A Rare Patient Voice Case Study
In medical school, students are trained to look for common ailments and not rare illnesses, hence the saying, “When you hear hoofbeats, think horses, not zebras.” However, doctors should not ignore the possibility of an illness being a “zebra.” Those who do risk putting their patients’ health at risk.
However, doctors should not ignore the possibility of an illness being a “zebra.” Those who do risk putting their patients’ health at risk.
At Rare Patient Voice, the experiences and viewpoints of patients and caregivers are valued as vital components in progress towards new treatments and cures. A recent RPV case study on rare disease patients’ diagnostic “odyssey” — a long, complicated journey that inches forward towards a goal — was undertaken with the goal of revealing the effects of delayed and inaccurate diagnoses of rare diseases. Researchers surveyed 3,471 patients and caregivers across 436 rare diseases. Some of the questions asked were how often they had to undergo testing, how many physicians they needed to see, how long they waited to receive a diagnosis, and whether they were misdiagnosed. The results are not representative because of the respondents’ different experiences, but they reveal common issues in the diagnostic process.
Summary of the study:
Recognising the highly varied experiences of the respondents, the researchers focused on the commonalities of their experiences instead of making a conclusive statement about rare disease patients. The study’s key findings:
The average waiting period before patients received a diagnosis is 4.4 years.
The median waiting period is 1.1 years
This data means that half of the survey participants received their diagnosis after just over a year. Many, however, waited for a much longer period, which explains why the average (mean) waiting period skewed to 4.4 years. Other important findings are:
To find the common experiences of the patients surveyed, the researchers analysed the data of 61 diseases that had 10 diagnosed patients. The patients eventually diagnosed with primary immunodeficiency illnesses, ankylosing spondylitis, celiac disease, depression, Ehlers-Danlos syndrome, Fabry disease, mastocytosis, and Pompe disease had a median waiting period of five years and an average waiting period of 10 years. Researchers identified a couple of factors for the long wait:
Multiple testing was necessary
Patients needed to see many physicians
Some were misdiagnosed
The Zebras Do Exist case study highlights some common roadblocks to timely and correct diagnosis: allowing preconceptions about a disease to influence the direction of the diagnostic process, gender biases, lack of awareness about a specific disease, late consultations with knowledgeable specialists, and lack of insurance, among others.
Patients must overcome their fear and avoid being in denial of their condition. They must be vocal when they feel that physicians are inattentive about their symptoms, given the latter’s inclination to “look for horses instead of zebras.” Physicians must be proactive in learning more about rare diseases, their symptoms, and diagnostic procedures.
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The founder of the Visual Snow Initiative, Sierra Domb, tells us about her journey with visual snow syndrome. Sierra struggled to find support and answers for her condition and is now on a mission to make sure no one goes through what she did. Sierra explains how her experiences shaped the charity now providing support, education, and furthering research for visual snow syndrome.
What is visual snow syndrome?
Q. Please can you introduce the Visual Snow Initiative and explain why you founded it?
I had several misdiagnoses and was told I might go blind or even die. I spent years believing this—until I discovered what visual snow syndrome was.
Years ago, I began experiencing symptoms of Visual Snow Syndrome (VSS). Thousands of black dots and flashing lights in my field of vision 24/7 was not normal. I visited numerous medical professionals and underwent years of testing, but no one could provide an answer. I had several misdiagnoses and was told I might go blind or even die. I spent years believing this—until I discovered what visual snow syndrome was. An online article, written by Dr. Peter Goadsby, perfectly described my symptoms. I reached out to him, and he made my official diagnosis of visual snow. He explained how, despite the scientific evidence, many in the medical community were unaware of VSS, and some even questioned its legitimacy. Countless patients around the world were being turned away, undiagnosed, isolated, and void of hope. That thought saddened me deeply. I hoped that fostering education and awareness for visual snow syndrome could reduce the problem. Doctors should know more about the condition, diagnose it, offer helpful resources to patients, and become interested in furthering research. In 2018, I organised the first-ever Visual Snow Conference in San Francisco. Dr. Goadsby and other experts from around the world joined me in presenting facts about visual snow. We shared current research and discussed VSS with those affected, their families, and medical professionals. I continued my mission by founding the Visual Snow Initiative (VSI), a non-profit dedicated to raising awareness, spreading education, and funding worldwide research for VSS.
In 2018, I organised the first-ever Visual Snow Conference in San Francisco. Dr. Goadsby and other experts from around the world joined me in presenting facts about Visual Snow. We shared current research and discussed VSS with those affected, their families, and medical professionals.
Q. I understand your diagnostic journey was difficult. What is the biggest barrier to receiving a diagnosis of VSS?
Another obstacle was clarifying that visual snow syndrome is neurological, not ophthalmological: the parts of the brain that control visual processing operate abnormally.
Previously, the biggest obstacle was a lack of knowledge about visual snow syndrome. The creation of VSI and the distribution of our content internationally has dramatically improved this. We have developed diagnostic criteria for VSS and an online global directory of doctors/specialists so we can direct people to the right specialists and resources. Videos, campaigns, and online content about visual snow further our mission, and VSI has featured in the media and academic articles. We collaborate with doctors and scientists globally to educate and fund research. Another obstacle was clarifying that visual snow syndrome is neurological, not ophthalmological: the parts of the brain that control visual processing operate abnormally. People with VSS do experience visual changes and impairments 24/7, yet their eye examinations typically yield “normal” results.
Q. What was your primary objective in setting up Visual Snow Initiative and how has this evolved?
Firstly, to generate awareness and educate the medical community. We needed them to recognise VSS, learn through our resources and events, and accurately diagnose it. Our information has been translated into many different languages and VSI has now been heard from people in 70 countries. We maintain a worldwide directory of doctors/specialists who now recognise and diagnose VSS. Our global research team of VSS experts collaborate and raise awareness for VSS within their respective fields and communities.
Q. Attracting research in rare diseases can be challenging: what is the current research environment like for visual snow and how does VSI support this?
Visual snow syndrome is not a disease; it is a syndrome or a collection of symptoms. Symptoms can be debilitating, ranging from visual (palinopsia, photophobia, enhanced entoptic phenomena, etc.) to non-visual (tinnitus, depersonalisation, etc.).
The biggest obstacle is a lack of funding. Donations translate to greater awareness and increase the possibilities for treatment and research. The VSI has brought together doctors, researchers, and scientists from around the world who are collaborating. In the future, this collaboration will lead to treatments or, ideally, a cure, for patients. VSI funds research worldwide. Studies are taking place currently in Australia, England, and the USA. In addition to research, the VSI works on near-term solutions and possible treatments. Studies in California and Texas have had positive initial outcomes in reducing VSS symptoms and returning those affected to their previous quality of life.
Q. What can people do to support raising awareness for visual snow syndrome and what advice would you give to others?
There are countless noble causes, but this condition’s severity does not match the attention it has received. Please help spread the word about Visual Snow, follow us on social media, and join the cause by donating! Your contribution makes a difference to people of all ages and backgrounds around the world. To those with VSS, you are not alone—thousands are affected. I really feel people need to hear that because VSS can be isolating and scary. Knowing that someone else understands your experience can keep you going, and this will inspire others too! If someone doubts you, feel confident expressing yourself and using the resources on our website or published studies.
Things may look and feel different, but there are still plenty of things you can do. Focus on what makes you happy. Make some lifestyle adjustments if you must. Look out for your health, both physically and mentally. Focus not on what you cannot do anymore, but what you can do. While the experts work on solutions, shifting your perspective can do wonders.
'Visual Snow Syndrome is a neurological condition that impacts an individual’s vision, hearing, and quality of life. Patients see flashing lights, flickering dots, and static, all of which obstruct their visual field 24/7. There is no relief for them, even when their eyes are closed. Our goal is to help those with Visual Snow live and enjoy their life without fear. Together, we will find a cure!'
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According to the Mental Health Foundation, “In England, around one in eight men has a common mental health problem such as depression, anxiety, panic disorder or obsessive-compulsive disorder (OCD).” It is no secret that talking about mental health can be hard for men, “societal expectations and traditional gender roles play a role in why men are less likely to discuss or seek help for their mental health problems.” In the past, expressing emotion has been seen as a sign of male weakness, which has led men to internalising their emotions, leaving them suffering with mental health issues and in some cases taking their own lives: “Three times as many men as women die by suicide.”
Having a rare condition can place additional strain on a person’s mental health because of isolation, the lack of people’s understanding, the loss of traditional roles and the impact on relationships and employment. All of this creates a harmful burden for which men are less likely to reach out for support. ‘Living with a rare condition can have a huge impact, including anxiety, stress, low mood, emotional exhaustion and suicidal thoughts.’
The motivation behind David’s virtual meetings to support men’s mental health
He had the idea to start a virtual meeting held on the last Sunday of every month where men from around the world could join him to talk about everything and anything important to them.
David explained his primary motivation of starting the group was that having never met his birth father he wanted like to “find the male role model from within” and help others in a similar situation. “I was aware of quite a few males who are suffering with mental health issues around the UK but unable to seek support or speak out because of our social conditioning. There are not many males talking about what they’re going through.” David reached out to Michael Mittelman, founder and CEO of The American Living Organ Donor Fund, who was interested in helping men talk about their mental health. “Michael believed in what I was saying and felt the same. It was amazing finding someone in America that was just as passionate.” David also reached out to Emmitt Henderson III, president at Male Lupus Warriors. With Michael and Emmitt on board, the three men began to support the male rare disease community.
I was aware of quite a few males who are suffering with mental health issues around the UK but unable to seek support or speak out because of our social conditioning. There are not many males talking about what they’re going through.
The impact of the meetings
The meetings have provided a safe and friendly space for men to talk openly without fear of judgement about things that are bothering them or just life in general. Some of the topics of conversation covered range from fatherhood to how a rare condition can impact romantic relationships. The meetings have given the men confidence to be able to talk openly, in a way some might not have ever done before. “It’s still a new group but it has been really successful; we have people from Russia, Pakistan, Malaysia, America and Europe.” As well as creating global connections and helping form friendships, the meetings have helped “in giving the guys a voice to talk about how they feel. Despite living in different countries and being from different cultures, we have more that unites us then separates us.”
It’s still a new group but it has been really successful; we have people from Russia, Pakistan, Malaysia, America and Europe.
The past, present and future for men’s mental health
It is evident that there is a gap in terms of mental health support after a rare disease diagnosis. Healthcare professionals are there to primarily treat the physical impact of a condition; therefore, it is sometimes left to the individual to seek out help for the emotional impact of a diagnosis. David believes several changes are needed. The first is more awareness: there needs to be more support from those working in the rare disease field to enable conversations about mental health. The second is a cultural shift: we need to change our perspective and understand that having a mental health issue is something that needs to be acknowledged and cared for just as you would a physical issue. David highlighted the need for more funding to be put into counselling services and for charities to have more financial support for patients’ mental wellbeing. The third is more dedicated charities for mental health and rare conditions. David believes the work Rare Minds are doing is essential. He feels it would be beneficial if other charities were able to collaborate on tackling mental health.
David is passionate about setting up a nonprofit dedicated to supporting those living with rare conditions and mental health issues and is on a mission to make sure no man stands alone.
If you would like to find out more information about the monthly meetings, please click the buttons below:
If you or someone you know is finding life difficult and struggling to manage their mental health, please do not hesitate to reach out and get support:
UK based organisations:
USA based organisations:
Who are the WCDGO?
World Congenital Disorders of Glycosylation Organization (WCDGO) is led and operated by CDG & Allies - Professionals and Patient Associations International Research Network (CDG & Allies - PPAIN). Working together to provide a strong voice to influence governments, researchers, clinicians and industry. WCDGO work hard to promote research, diagnosis, treatment and services for the congenital disorders of glycosylation (CDG) community.
As a united voice for people living CDG, the WCDGO exists to raise awareness and transform the world’s understanding of CDG.
World CDG Organization focus on working together to achieve A2.C3.U2.R3.E2, to support practices that:
The new WCDGO website is easy to navigate and can be translated into many languages. With a modern, minimalistic design it reflects WCDGO’s clear mission: to improve the lives of people living with CDG and their family members.
Highlighting the importance of plain lay language for effective communication and empowerment for the CDG community
The information on the website is written in an inclusive writing style, also known as plain lay language. This simplified style is oriented towards a non-scientific audience. The website includes information on the importance of plain lay language in science and research communication to ensure healthcare professionals communicate clearly to individuals living with CDG, their families, and the general public.
When doctors make the effort to communicate in a simplified manner, patients feel validated and have a better understanding of their clinical situation; therefore, they’ll be more likely to cooperate while being treated and be more trusting, leading to improved doctor–patient relations.
One of the biggest challenges for individuals living with CDG and their families is the lack of non-technical literature. A study by the Centers for Disease Control and Prevention (CDC) found that almost half of all American adults have basic or below basic health literacy skills.
The CDC defines health literacy as “the degree to which an individual has the capacity to obtain, communicate, process, and understand basic health information and services to make appropriate health decisions.
This lack of understanding can often make it more difficult for individuals to make informed decisions and actions about their health, which often hinders the treatment process. Providing individuals with accessible health information will mean patients are less likely to visit an emergency room, have fewer hospital stays, are more likely to follow treatment plans, and have a lower mortality rate.
To read more information on the importance of plain lay language and the benefits of increased health literacy, visit the WCDGO website under Empowerment for CDG Community.
Raising awareness for caregivers and medical experts, as well as those living with CDG, through new, shareable infographics
Click the images above to access downloadable resources.
WCDGO offers free, downloadable infographics on the “About CDG” and “Resources” section on the website. WCDGO hope the infographics will help raise awareness of CDG, including its signs and symptoms, and highlight the importance of CDG care and management. The infographics include an overview of CDG (causes, symptoms, treatment, history, etc), a CDG diagnostic roadmap, and major signs and symptoms of PMM2-CDG (the most common type of CDG). Many more infographics on lesser-known CDG types, such as FUT8-CDG, ALG6-CDG, and MAN1B1-CDG are also available. Steps to share and present the CDG infographics with schools and medical/research centres are provided. The infographics are available in several different languages and some infographics are available to download in different sizes (A4, A2, A0). Infographics can be accessed here:
Staying up-to-date on the process and development of CDG treatment
A new page on the WCDGO website supports individuals living with CDG and their families in being actively involved and informed in treatment development. The easy-to-understand graphs provide information on what is in the pipeline for dietary replacement therapies and non-dietary therapeutic approaches. The graphs list the type of drug and whether it is in a pre-clinical stage, phase 1, 2 or 3, or already approved. Sharing this information with CDG families enables more informed decision making around their health care options now and in the future.
Enabling CDG individuals to stay informed on clinical trials and research studies for CDG
A dedicated to upcoming or actively recruiting trials and research studies as well as information on completed and determined trials keeps families informed about investigational treatments. Information on the industry or institution conducting the study, the study name, therapeutic approach, eligibility, study type, and contact information to get involved is included. Information and contact information for upcoming clinical trials can be accessed here:
Your help is needed to make a change in the CDG community: an international study to CDG journey mapping
WCDGO is looking for participants for two online surveys to boost CDG research and improve the quality of life for CDG individuals. Survey 1: “Prioritizing symptoms impacting quality of life for CDG” can be taken by all CDG patients, family members and caregivers. The study evaluates symptom prioritisation for the development of new and improved therapies for symptom relief among people living with CDG, as well as current care and management across all CDG types. Survey 2: “CDG experiences over time from families’ and professionals’ views” is split into two surveys: one for people living with CDG and their families and caregivers, and the other for professionals, biotech and related stakeholders. The study corresponds to part 2 of an international study aiming to capture the full picture of people living with CDG from different perspectives. Both surveys can be participated in anonymously and will take an average of 45 minutes to complete; they can be saved and finished at a later date at any stage. For more information or to take part in either or both of these surveys visit:
Other features and signposting available on the WCDGO website
Click the buttons below for WCDGO social media platforms:
For more information and support around CDG please go to:
My sister lives with PMM2-CDG, which is the most common CDG type. From a young age I always wanted to help my sister, Liliana, and so when I grew up, I decided to study biology, which led to a PhD in cell biology. During my PhD, I organised a scientific event dedicated to rare diseases. The event was a success: stakeholders from different rare diseases attended, and it really opened my eyes to the potential of working in the field. It was here I realised my unique position as both a scientist and family member; I realised I had the opportunity to bridge the gap between medical researchers and CDG families.
Now knowing how I could best help either my sister and other CDG families, I started to look for associations to connect with. Through the Spanish Association for CDG, we met other CDG families for the first time. It was amazing to be able to share our experiences and challenges. From this meeting, I knew I wanted to be more involved, and in 2010, we officially set up the Portuguese Association for CDG.
My background in science opened the door for me to reach out to other researchers and clinicians and have them listen to what we wanted to achieve; and, as a family member of someone with CDG, there was a personal, meaningful effort behind my research.
Q.What does the World CDG Organization (WCDGO) do as an umbrella organisation?
Currently, the WCDGO is led and operated on a volunteer basis by several members of the CDG & Allies PPAIN which is based at NOVA School of Science and Technology (FCT NOVA).
Having an umbrella organisation gives us a stronger voice to direct research and engage with regulatory bodies and is good for coordinating the work of national patient organisations. By uniting the CDG community globally we are strengthened by numbers that attract pharmaceutical industry interest.
Q. From what I’ve seen of the CDG community, they’re really invested and engaged in research priorities, how have you taken that interest to drive people-centric research?
Through personal experience and anecdotal evidence from other families, we discovered many people were experiencing strokes-like episodes that seemed frequently triggered for example, by fever. Nobody yet understands what is causing these issues and in 2016 there wasn’t much research being done to investigate. To me, as a CDG family member, the research was not meeting our needs, so we identified someone with expertise in immunology and glycosylation and are driving this research. We then, identified many other areas where research did not exist yet or was limited, such as Clinical Outcomes Assessments (COAs) or Patient Preference Information (PPI) studies. We are leading international research projects in these areas. These tools are a “must have” for benefit–risk assessment, Health Technology Assessment, and pricing and reimbursement decisions and they require the voice of people living with CDG and their family members to be integrated at conception. Thus, our research is facilitating and opening avenues for the journey of future and current CDG clinical development programs.
Journey-mapping was another area where there was a lack of robust evidence. Recording the first signs and symptoms, how long a diagnosis took, any misdiagnosis, needs post-diagnosis and disease progression is important to understand where to concentrate research and support. However, this type of research can only be led by someone with a family perspective: someone who has lived this journey.
Through the design of carefully constructed electronic questionnaires we have been able to prove previously written theories and learn a great deal about the diagnostic journey and unmet needs. The data from these surveys allows for tailored solutions for the community.
We have assembled knowledge from 200 families living with CDG utilising digital surveys … family co-creation and participation in these surveys is an essential approach for future research for the CDG community.
Q. As a global project across various geographical boundaries, were there any challenges?
One of the biggest challenges is language barriers; there is a limited amount of funding to translate all resources into every language we would like to. However, we are fortunate to have volunteers, including CDG experts, that dedicate their time to translating to ensure individuals have access to information and are able to participate in our projects.
Q. Following the success of the digital survey, what support do you need to move this research to the next level?
Running alongside our digital survey on immunological issues we have lab-based research to understand more about why these happen. Funding and attracting pharma collaboration is key to our ability to continue this research and bring new treatments to our families.
Whilst pharmaceutical companies have started to take an interest in CDG, we still need funding to have a good global registry. This is an important next step to becoming ready for clinical trials.
We want to do all we can to make sure we are ready to embark with pharma as partners before they set up their clinical development programs.
Q. What would you say to encourage other patient groups thinking about research?
The CDG community have faced many challenges but we have learned how to put innovation, creativity and people at the forefront. Just because the disease is rare is not a reason to not care. I hope others see what we have achieved and believe it is possible for them. We believe that our journey can be transferred successfully for other rare diseases.
For more information and support around CDG please go to:
CDG & Allies – PPAIN: a people-orientated research method to turn families’ needs and ideas into scientific projects
Rita first contacted CDG & Allies – PPAIN, based in the Department of Life Sciences of the Science and Technology faculty of the Nova University in Lisbon, Portugal, in 2016. Through listening to the community needs, namely to families of individuals with CDG and to professionals working on CDG, Rita identified a gap in CDG research in the involvement of the immune system in CDG. Rita’s PhD research focuses on whether CDG patients have an increased susceptibility for infections or other immune-related manifestations. With infections often causing serious complications for individuals living with CDG, she hopes her research will help families manage these complications and minimise their severity.
To better understand the extent of the complications and the frequency of infections in individuals living with CDG, Rita’s research involved families and patients from the beginning. Because the information was invaluable, the families and individuals living with CDG were kept fully involved in the research at every stage.
Ensuring diverse perspectives and people-driven values
To better involve all individuals in the research, two advisory committees were established; one advisory committee composed of CDG families, and another for professionals with varying backgrounds to bring together their different perspectives and expertise. Following the establishment of these committees, all members were seen as official team members and were subsequently involved and consulted equally. A strong emphasis on the value of interaction between both committees enabled a powerful, united CDG community and successful research collaboration.
A final product that is both scientifically accurate, but also goes in the direction of meeting the needs and the understanding of CDG families, was always fundamental in our project.
Building a study to reach a global community
To reach a vast geographical spread of individuals, an electronic The Immunology and CDG Questionnaire (ImmunoCDGQ) was developed so that it could be distributed digitally around the globe. As families usually visit their general practitioners and are not referred to an immunologist for CDG, data about immune-related manifestations is scattered. Therefore, the questionnaire was directed to those who centralise the data: CDG families.
There is a broad range of health literacy across CDG families, so it was vital to the study’s success that the questionnaire used as much plain lay language (an inclusive writing style oriented towards a lay non-scientist audience)1 as possible. To achieve this clarity, the family advisory board provided critical insight into how doctors communicate information to CDG families. This was helpful with wording questions using terminology participants were more likely to be familiar with. The clear language also meant the questionnaire was easier to translate into multiple languages.
A successful communication strategy for research
The information on the topic meant families were able to familiarise themselves with terms relating to immunology before the questionnaire was launched. As the survey was digitally distributed, participants did not have immediate access to ask questions as they would in a face-to-face survey, so the information supplied to the community included various theme-specific glossaries and other tools to help them to fully understand the questionnaire language. This allowed participants to feel confident to fill out the questionnaire without the assistance of a third party.
The survey was distributed through email, social media and web-based platforms, including RareConnect. A website was created for the study to centralise all resources and information on the project.
The power of communication
Rita accredits the communication strategy before and after the questionnaire launch as a key factor to the success of the study: it ignited interest in the project and helped the community understand the significance the research findings could have. Another factor boosting participation was the range of distribution methods used to reach families with different digital preferences. ''Recognising the diversity that exists within the CDG community, we wanted our communication strategy to meet this need.'' Rita explains.
It was also vital to Rita and the team that they reported back to the community regularly on their findings.
It is fundamental to generate trust in and awareness of research and it is important to diversify outside of traditional scientific communication channels to achieve this.
Study results confirm literature and uncover novel research avenues
There were 209 participants included in the study. Included in that figure, 122 of the participants had the most common CDG type, PMM2-CDG. With an estimated 1200 patients living with PMM2-CDG worldwide, the study captured 10% of the worldwide population. This makes this study the largest ever published on PMM2-CDG, reflecting its huge recruitment success.
“We were able to collect data that confirms literature data that goes back two to three decades,” Rita explains.
Something that came out of this project was the interplay that seems to exist between the immune system and the gastrointestinal (GI) tract in PMM2-CDG. Infections affecting the GI tract are really the ones that stand out in terms of prevalence and severity.
This research finding was the “highlight in terms of scientific medical conclusion” and is something that is being worked on to further unravel the findings. Read the full paper here.
Next steps for CDG research
Rita’s research is complementary with a colleague’s research who is also doing their PhD on CDG. Her colleague, Carlota Pascoal, is also exploring immune-related manifestations of CDG; however, unlike Rita’s research, Carlota’s is lab-based, working with patients’ samples to see how they respond to infection stimuli. The two researchers now want to establish collaborations with other CDG researchers, particularly those who have the expertise to lead the research on GI symptoms in CDG. They are currently applying for funding and assembling a team to drive the research findings forward.
What advice would you give to other patient groups who are thinking about undertaking their own research study? And to researchers wondering if they could or should include patient groups/communities in their research?
Talking to the rare disease community and finding out their concerns and needs is vital to find a meaningful research area to study, Rita explains. Rita believes that it is “very possible” for patient groups to undertake a research study within their disease communities using the same methodology used for her study. Rita’s first advice would be for patient association to clearly identify research as one of their priorities or areas of action and, thus, incorporate boards or governance people who can provide support. Following this, it is crucial to identify your allies, those who believe in this methodology, and assemble a team of people on the same wavelength. Once you have a research area of focus, collaborating and finding a researcher or research group that wants to work on your specific disease is best achieved by collaborating with a university where scientists are often doing their PhDs, Rita explains.
In the future, Rita hopes to see more patient associations who fundraise and donate to a research team or a specific project be more involved and informed in the research they help to fund:
I think if patient associations are helping to finance research, they should demand to be more involved and more informed on the research progress and findings. It’s not just the money that they can bring in, they can bring in much more; they are an added value and should be seen as such.
As for researchers, Rita hopes that her work and the work CDG & Allies -PPAIN has been leading can stimulate other researchers, particularly in the biomedical field, to explore people-centricity and adopt this principle from ideation to co-development of clinical programmes and regulatory activities. Rita expressed that: ''Involving families and people living with a disease is not only possible, but it is, in fact, a solid way to produce novel research findings. It is a way to promote health and science literacy as well as to improve research transparency. While this pandemic has shown us how much the world needs scientific advances, it has also clearly underlined that people need to understand and trust scientific discoveries to effectively adopt them. People-centric research does that – it generates trust!''
For a deeper dive into this published research "New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach", click HERE for the lay friendly video abstract and HERE for the full paper .
You can also access additional materials created about the project HERE.
For more information and support around CDG please go to:
1. WCDG, Plain Lay Language & Health Literacy, Available: https://worldcdg.org/advocacy/empowerment-cdg-community, 17th May 2021.
Getting a diagnosis: the early signs and symptoms of PIGA-CDG
When Emmett was born in April 2016, he presented with medical issues from the start, remaining in the neonatal intensive care unit (NICU) for the first ten days of his life. He was given the all-clear and discharged; however, Emmett failed to meet milestones such as smiling, holding his head up and sitting. Later that year Emmett was hospitalised for a month and a half with respiratory problems and seizures. Initial epilepsy panels came back negative, so the family underwent whole exome sequencing. It was through that that Ann and Steve received Emmett’s rare diagnosis: PIGA-CDG. There were no treatment options or research into PIGA-CDG, and Emmett spent a lot of time in hospital with gastrointestinal and respiratory complications. Most children with PIGA-CDG struggle with a range of symptoms, including global developmental delays, seizures, muscle tone disorders, recurring respiratory illnesses, and more. Some end up needing feeding tubes and/or tracheostomies. And, as in Emmett’s case, many end up passing away at a very young age.
A lack of signposting and accessible information led to Ann and Steve searching for answers alone
At one point I was looking up online classes on biology and neurology and genetics, just trying
When Ann and Steve received Emmett’s diagnosis, they found it difficult to find out about the disease and whether there was any research. Any information they did find was very scientific and not available in lay language. Their geneticist and neurologist pointed them to PubMed publications where there was a handful of papers that documented similar mutations and characteristics of the disease. But, there was not anything beyond that, and the rarity of Emmett’s disease meant the couple also struggled to find other families with the same diagnosis.
Searching for treatment options with an international team
Steve reached out to his friend Andrew, and with his help the family began their research journey. They started by focusing on small molecule replacement. The idea was to understand the role the PIGA gene played in the body, and what small molecule replacements might be supplemented to make up for the PIGA gene’s impaired function. The research and networking led them to a researcher in Osaka, Japan and a chemist in Germany. The lab in Japan had discovered a lot about the different genes involved in the pathway that PIGA-CDG was in and the researcher agreed to work with them. They used Emmett’s cell lines to assess whether various supplements had a noticeable impact. In Germany, the chemist worked with them to create a new molecule that was essentially the output of what the PIGA gene created. Whilst this showed great promise in vitro, when tested in mouse models, the results could not be replicated.
At this point, with limited funds, Ann and Steve shifted their focus to gene therapy. Through Steve’s work, they were able to make connections with companies that specialised in cell and gene therapies. “In principle, if you have a disorder that’s caused by a single mutation (monogenic) and the gene itself is within a certain size, it should be viable for gene therapy,” Steve explains.
Creating interest in ultra-rare diseases
The problem is finding somebody to help us—most of the companies I had connections with were busy with their existing pipelines—many companies weren’t interested in a disease with fewer than 100 patients.
However, their contacts did provide a consensus that, in principle, gene therapy should work for the disease. Eventually, Ann and Steve were connected with Nationwide Children’s Hospital in Ohio and a researcher at the hospital. Ann and Steve continue to work with them today, along with other researchers in Japan and Utah. (The researcher in Utah is working with them on a drug repurposing project for PIGA-CDG, in parallel with the gene therapy project.)
Preparing for the next steps to drive PIGA-CDG research towards a treatment
At present, the couple are focused on proof of concept for a gene therapy. With a successful outcome in-vitro, the next stage is to test the gene therapy vector in mice, which they hope to receive results for in the next six months. Once this testing stage is complete, the next stage will be safety and toxicity—which Ann and Steve have already begun fundraising for.
“The amount of money we need for clinical grade manufacturing and clinical trials is in the millions. It’s too difficult to raise these kind of funds on a non-profit basis, so we know we need to look at external funding and partnering”, Steve explains. “We hope that once we have proof of concept data, there will be a good level of interest from gene therapy companies.”
Building a website to raise awareness and unite families globally
Awareness is really critical, for both education and to raise the money we need for life-saving research.
When exploring ways to fundraise, Ann and Steve decided to partner with CDG CARE, the oldest CDG non-profit in the world. They felt it would be beneficial to work with an organisation that had an established structure and process, as well as network. Through CDG CARE, three grants have been awarded for PIGA-CDG research, one of them being for the current gene therapy project.
They also decided to start a website dedicated to sharing information and resources on PIGA-CDG to help other families who may be newly diagnosed. And that number seems to be increasing. When Emmett was diagnosed in 2017, there had only been 20 published cases of PIGA-CDG. A more recent research paper shows that there are now almost 100 published cases of PIGA-CDG, most likely due to increasing genetic testing.
The whole effort has been an international one, working both with researchers and families. A lot of the families that we’ve been connected with are more active outside of the US — Europe and Latin America – and we need to continue the search to find others.
Building a legacy for Emmett: finding a treatment that will benefit others
“When we started our research journey, it was to help Emmett, and the hope was to develop something in time to improve his condition”, Steve explains. Sadly, a treatment was not found in time for Emmett, who passed away February 2020 just shy of his fourth birthday from respiratory complications. But Ann and Steve continue to advocate and drive forward PIGA-CDG research in the hopes that it might help other families.
Emmett was on this earth for such a short period of time but, because of his life, if we can make a difference in helping others find a treatment, that will mean so much to us—that’s what keeps us going.
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Professor Jaak Jaeken | An overview of the discovery and complexity of congenital disorders of glycosylation (CDG)
Q. Can you explain to us what CDG is and what makes it so complex?
About half of our body proteins and many lipids carry a complex ‘sugar tree’ called glycan. This glycan consists of several branches, composed of different sugars, or monosaccharides, such as mannose, galactose, sialic acid and others. The assembly, or the building, of the glycan and the attachment to the protein and the lipids is called glycosylation. The glycan is very important for the many different functions of the proteins and the lipids carrying these glycans.
In CDG, there is a genetic defect in the glycan assembly, and more specifically, in the enzymes and transporters needed for this assembly. There are several hundreds of these enzymes and transporters known, and we know defects in some 160 of them.
Glycosylation is present in all our organs and systems, particularly in the brain. Therefore, these patients show mostly multisystem involvement, including brain disease, with intellectual disability, epilepsy, hypertonia, and ataxia, and symptoms from other organs such as the liver, eyes, kidneys, heart, immunological system and many others. A few CDG involve only one organ because of a defect in the glycosylation that is specific for that organ.
The nomenclature of CDG has been changed over time. Initially, I numbered the CDG in the order of discovery. We had CDG-Ia, CDG-Ib, etcetera, until we were at the end of the alphabet, and then CDG-IIa, CDG-IIb, and so on. However, in 2009 we decided to introduce a more informative nomenclature by using the gene name followed by the umbrella name CDG. For example, PMM2-CDG. PMM-2 stands for phosphomannomutase 2, and this is still the most frequent CDG, with nearly 1000 reported patients. As to the other CDG, only between 1 and 100 patients have been reported.
Q. Could you tell us about the history of CDG and your work?
This story started in 1978 when I was asked to investigate 18-month-old twin sisters because of their psychomotor disability. This meant they were unable to speak and could not sit without support. I started the usual investigations of blood and urine and found a combination of protein abnormalities that I had not observed before. I was of course curious to know the mechanism, or the cause, of these findings. It took me some time to arrive at the conclusion that there should be a problem with something that is common to these proteins. By looking into the literature, I came across a paper from Professor Henk van Eijk, a blood specialist in Rotterdam, about transferrin isoelectric focusing.
Isoelectric focusing is a technique of electrophoresis (the movement of charged particles in a fluid or gel under the influence of an electric field) in which the resolution is improved by maintaining a pH gradient between the electrodes (definitions from Oxford Languages).
Transferrin is a protein that transports iron in the blood, and when this protein is subjected to an electric field, it shows several bands. The most important band is called 4-sialotransferrin, because it carries 4 sialic acid molecules. Sialic acid is a sugar with a negative electric charge. When there is a change in the sialic acid content, there is also a change in the pattern of these bands on the isoelectric focusing. I thought that this test might be useful to clarify the problem of my two patients, and so I sent serum to Professor Van Eijk. Within two days, the professor found an abnormality that he had never seen before—a decrease in the sugar sialic acid in transferrin. Subsequently, we found that many other proteins showed the same deficiency in sialic acid. This was the start of the CDG story. Many scientists have since then contributed to the unravelling of the CDG fields, and I hereby want to mention in particular geneticist Professor Gert Matthijs and biochemist Professor Emile van Schaftingen.
PMM2-CDG is by far the most frequent CDG. The start was very slow but the discovery of other CDG was more rapid with sometimes more than 10 CDG discovered in one year. Actually, there are many research groups all over the world working on CDG with advanced genetic and other techniques, and so the discoveries continue to be much more rapid.
Q. What have been your biggest challenges in treating patients with CDG over your career?
The biggest challenge in treating patients with CDG is the lack of effective treatments. There is a more or less effective treatment for only two CDG. One is an oral treatment with the sugar mannose, and the other is a treatment with oral uridine. Partial treatments are available with two other sugars, namely galactose and fructose, but promisingly, other treatments are in the pipeline with clinical trials in different phases.
Q. In your opinion, what is the biggest unmet need for those with CDG?
A big unmet need for these patients, besides the lack of effective treatment, is the lack of awareness of these diseases by physicians. This can lead to great delays in diagnosis, sometimes for many years. Some patients have seen up to 20 doctors before arriving at the diagnosis.
Q. Looking to the future, what are your hopes for research and treatment development for CDG?
I have many hopes for CDG diagnostics and treatment in the future. Firstly, that unknown CDG are discovered as soon as possible—it is likely there are still 100 or more still to be discovered. Secondly, that patients are diagnosed very early, preferably in the neonatal period (first four weeks of a child’s life)—hence the importance of neonatal screening. Finally, that effective treatments become available with minimum side effects and that patients would receive an optimal symptomatic treatment by a dedicated multidisciplinary team. Optimal psychological and emotional support for individuals living with CDG and their families should also be a high priority for the CDG community.
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Jaeken J, Van Eijk HG, van der Heul C et al. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly diagnosed genetic syndrome. Clin Chim Acta 1984; 144: 245-247
Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995; 377: 318-320
Matthijs G, Schollen E, Pardon E et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 1997; 16: 88-92
Jaeken J, Péanne R. What is new in CDG? J Inherit Metab Dis 2017; 40: 569-586
Brasil S, Pascoal C, Francisco R et al. CDG therapies: from bench to bedside. In J Mol Sci 2018; 19: 1304. doi: 10.3390/ijms19051304
A carer’s perspective: the impact a diagnosis of congenital disorders of glycosylation (CDG) has on a family
Despite being separated by over 9000 miles, Mandy Pinheiro and Mariana Esquinca share many of the same challenges and goals: seeking a diagnosis, accessing treatment and therapies for their children and accelerating research. Here they share their experiences of caring for their children, each diagnosed with a different type of congenital disorders of glycosylation (CDG).
The road to diagnosis
Mandy Pinheiro lives in South Africa with her husband Paulo and their children Luca, Emma and eight-year-old son Marco. Mariana Esquinca and Paul Collot live in Mexico with their daughter Isabella and 19-month-old son Romeo. Both Mandy and Mariana had healthy pregnancies with their youngest sons with no warning signs to suspect anything was going to be wrong with their babies.
For Mandy, Marco was a healthy and relaxed baby for the first 3 months of his life. Mandy and her family first became concerned when Marco was around 4 months old. “He wasn't meeting those little milestones that happen in the early months of a child’s life in terms of his control.” Marco was seen by many different medical professionals to try and find out the cause and was initially diagnosed with West syndrome, a form of epilepsy which causes infantile spasms. Marco began an intensive treatment plan but had several side effects and complications to the medication. His initial hospitalisation lasted for 21 days as they struggled to get the seizures controlled. Marco’s pediatric neurologist Dr Dorcas Wilson turned him inside out trying to establish the etiology of his condition and eventually was referred to Dr Lindsay Lambie, a geneticist. “In South Africa, at the time, we didn't have that kind of level of intense genetic testing, as they do in 1st world countries. So we needed to send all his samples to the Netherlands. We had to wait six months to eventually get the diagnosis—after four years—which was the CDG.” Marco was diagnosed with having a genetic mutation in the gene ALG13 resulting in ALG13-CDG.
In South Africa, at the time, we didn't have that kind of level of intense genetic testing, as they do in 1st world countries. So we needed to send all his samples to the Netherlands. We had to wait six months to eventually get the diagnosis—after four years—which was the CDG.
For Mariana, the signs were also early. Romeo also missed milestones and had unexplained seizures which increased in frequency. “When he was one year old he wouldn’t sit but he was advancing in other ways and otherwise seemed physically normal, but we had to go deeper.” We were put in contact with the Geneticist Dr Susana Monroy, based in Mexico City and after a few months of follow up, she told us the only way to determine what was wrong with Romeo was through a genetic test that we had to send to USA. Although expensive, it was the only hope in finding a diagnosis for their son and one month later he was diagnosed with PIGA CDG. “PIGA-CDG is an extremely rare genetic disorder that affects children from birth. It is also known as PIGA deficiency or multiple birth defects-hypotonia-seizure syndrome type 2 (MCAHS2).” Romeo started weekly therapy at great expense; Mariana stressed how no help was given by the Mexican government with funding Romeo’s treatment as little is known about the disease.
Romeo is the first one in the family to have this genetic condition. Nobody knew anything about it and no insurers would help because he was born with it.
The impact on family life
A global support network
For most families affected by a rare diagnosis, support networks online and offline are a light in the dark. Mandy found a great support network in family and friends but also within the CDG community. “The CDG Global Alliance is a Facebook platform where people share their stories and their difficulties. Reading these gives you so much more insight in terms of what you’re going through, and how it is actually quite similar to somebody on the other side of the world.” Mandy runs her own support group in South Africa for the small number of families with a diagnosis of CDG, “There are only about seven CDG children in South Africa with this diagnosis. So it’s very few and Marco is the only child with this specific subtype in South Africa.” Medical professionals also provide a type of support system for Mandy and Marco which she can rely on anytime, especially in a crisis. “We have an amazing group of specialists made up of his geneticist, neurologist, paediatrician and physical therapist that really care for Marco and support us.”
There are only about seven CDG children in South Africa with this diagnosis. So it’s very few and Marco is the only child with this specific subtype in South Africa.
With a lack of local patient support organisations in Mexico, Mariana and Paul found support through their geneticist, Susana Monroy who, through working with Dr Morava-Kozicz, a specialist in CDG and was able to educate them on the disease. Mariana and Paul found a scientist locally, Dr Ivan Martinez Duncker who will be carrying out research into Romeo’s condition, as part of a natural history programme.
They have been very helpful in giving us tips to discuss with the doctors, maybe to try a new therapy or diet, which our doctor will then agree to try.
They found their community when they joined the World CDG Organization where they met Dr Vanessa Ferreira, founder and operations team leader, who helped them understand CDG and gave them vital support. They connected with other families online in the CDG and PIGA community and found comfort and knowledge from learning about their experiences. Paul commented that “they have been very helpful in giving us tips to discuss with the doctors, maybe to try a new therapy or diet, which our doctor will then agree to try”. This was the spark for creating their own network, CDG Mexico: “We started to provide this information locally; we wanted to share and find information in different languages, to help others.
The unmet global needs in CDG
Something which both families described was a lack of resources and opportunities in their own countries. Mandy stresses that in South Africa there are fewer opportunities to join clinical trials or to be involved in medical programmes than there are in Europe or America, which is why they had to seek help overseas. Furthermore, although Marco’s medical team is very supportive, they are not always “knowledgeable in terms of CDG” as there is no CDG Specialist. Mandy explains how she often does a lot of research, which she shares with her medical team in order to keep them educated on the latest findings, research and therapies linked to CDG. Mandy believes more awareness is needed in their countries about the condition. “The more we get the knowledge out there, and the more awareness there is about CDG, the more things will happen.” For Mandy, the biggest unmet need is a cure. “We live with a lot of hope that someday, through research, they can find cures for some of the subtypes of CDG.”
The unmet need of awareness was also highlighted by Paul and Mariana in Mexico; they feel that Mexico only recognises around 20–30 rare diseases out of the 7000 that exist. Mariana emphasises how it would help if doctors were to include CDG types as a possibility when genetic tests are carried out. At present there are only three confirmed cases of CDG in Mexico. Both Mariana and Paul are passionate about helping other families around the globe find a diagnosis. Paul says, “It is part of our job and our fight to spread the word, and fight for CDG—not only PIGA, but all types of CDG–and all the other rare diseases to be heard.” The biggest unmet need is research for a cure: “PIGA is so new; it is stressful not to know what his future will be like, not knowing if he can go to university and have a normal life, so a cure is my hope and my dream.”
Research and CDG
Both families passionately believe that global communication and collaborative research in the CDG space is vital to find the cure the community so desperately needs. Mandy questions the current situation: “Everybody’s doing something but are they all really collaborating with each other?” She is sure that a collaborative approach would speed up the process for organisations, researchers and industry and benefit the community enormously. Paul recognises that “there is some research starting all over the world” but he believes “it should be centralised—all working together”.
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By nine months old, Bianca was experiencing significant developmental and motor delays. With initial concerns over a brain tumour ruled out, we went in to see an ophthalmology surgeon who suggested she may have a genetic disorder. I didn’t know anything about genetics or rare diseases at that time. After two months of testing, at 15 months old, Bianca was diagnosed with PMM2-CDG.
My path into advocacy was having that initial diagnosis and not knowing where to turn for help. On the night Bianca was diagnosed, I reached out to a doctor I found through an internet search: Dr Marquardt, in Germany. He responded reassuringly and sent me some resources. It was such a relief as everything I had found on the internet was very scary and made it seem like there wasn’t much hope. I took his email back to Bianca’s doctor. Despite this information her doctor continued to tell me that her average lifespan was 12 months and to cherish every day. It was heartbreaking. I connected with specialists across the world and realised I needed to find other families like us.
When you’re a parent of a child with a rare disease you should be awarded a master’s degree: in four to six weeks you become a specialist in your own child’s disorder.
In 2012 I met Vanessa Ferreira (now president and founder of the Portuguese Association for CDG and Rare Metabolic Diseases and operations team member at the World CDG Organization) at a CDG conference in Chicago. We started connecting regularly to find ways we could work together to find and support families. In 2014 I formed CDG CARE as a non-profit organisation in the US and continue to collaborate closely with other CDG organisations.
Q. What services does your organisation provide to patients and families with CDG?
We began with a website to provide newly diagnosed families with the sort of resources and opportunities to connect that I wished I had received when Bianca was first diagnosed. We developed a triage line with a network of doctors with expertise that families could email to support their own doctors.
In 2016, in the US, we held our first educational conference, which was a huge success with around 100 attendees. By that time social media had taken off and we created a Facebook page to begin connecting families. With more and more CDG types being identified, more families were being diagnosed and the community grew rapidly. At this point we really became a global community.
We realised that we are stronger together and we needed to be one voice. Even though there are different CDG types, we all experience a lot of the same signs and symptoms. And so, we stood united.
In 2018 we started delving into research. We have been able to gain the trust of other non-profit organisations, sponsors, industry partners and our patient community, and we now have a sustainable source of fundraised income to fund basic research to clinical trials, family travel grants to medical equipment for families that don’t have resources: it’s amazing.
Q. As a global organisation, how do you reach your diverse geographical community?
We organised a group of families to become the administrators of a global Facebook group and we have families in different countries who voluntarily reach out to new families and welcome them to our community.
The FCDGC consortium has allowed us to network with larger, more established rare disease groups and learn from the wider rare community.
Right now, we are focusing on reducing health disparities among CDG families with different cultural backgrounds and languages. We are looking at translating and developing brochures that are culturally specific and offered in communities that have been identified throughout the USA by our medical professionals. For example, in Houston, Texas, there’s a significant Vietnamese community, and there are CDG families who don’t have any internet resources. We need to ensure they have a place to turn to. In 2019 we partnered with the Frontiers in CDG Consortium (FCDGC), which is a nationwide collaboration made up of nine medical centres across the USA and continues to expand. The FCDGC recently expanded research centres into Belgium and Sweden. The FCDGC continues to look for additional global partnerships so we can continue expand patient access and develop these specialty CDG medical centres which families can turn to within their own country to receive expert care.
Q. What support does your organisation need to move forward with research?
The CDG Community would really benefit from having the next generation of scientists and researchers interested in advancing the cause for CDG. We have pockets of researchers who are interested in researching organism models for developing tests for CDG, or gene therapy, and we could definitely benefit from additional internships and educational opportunities in these areas. Speaking to professionals over the years, they have said that there was just one question on their medical exam about genetic disorders, or about CDG, and that is something we want to change—we want to advance our awareness and interest among the professional community, particularly in the educational environment.
I think that, as with all patient associations, if we have committed doctors and devoted researchers who are informed and engaged, then we are going to be able to improve patient outcomes.
Q. What do you feel is still the biggest unmet need for those with CDG?
We want to see CDG included in prenatal genetic screening; this would prevent so many misdiagnosed families. We know that the prevalence of CDG is much higher than we have been able to prove with diagnosed cases, and we know that there are families that have been misdiagnosed, most commonly with autism or with cerebral palsy. Some individuals do not get a correct diagnosis until they have reached their twenties!
One thing I learned from a recent conference is that we still don’t have a centralised place to keep track of research. For example, we didn’t know that there is some very interesting CDG research being done in Brazil.
A communication platform—a network with details of all CDG research—could really help to accelerate research, encourage collaboration and avoid duplication.
Q. Can you tell us about how your organisation is driving research?
We have a global registry called CDG Connect that we would like all CDG families to enrol in. The registry is a partnership between CDG CARE and CDG Canada, and we would love for all of the patient associations worldwide to join on and help promote it.
It’s truly owned by the families who take the time to input their data via questionnaires designed by patient association groups and medical professionals.
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Professor Eva Morava-Kozicz | The scientist dividing her time between lab research and patient care to improve the lives of CDG families around the world
As a paediatrician, Professor Morava became involved in CDG early in her career: “I learned about this new disease and when I made my first diagnosis, I fell in love with helping these children and their families. Despite their challenges the children are genuinely kind, cheerful and with a great sense of humour.”
Lab research: educating the scientists of tomorrow while developing new therapies for the CDG community
To date, Professor Morava’s research has focussed on discovering new disorders related to glycosylation. This research aims to have a clear understanding of the interaction of the genotype with the environment based on observable characteristics. This helps to predict how the disease may progress long-term and which organs might be involved. Professor Morava was also involved in functional studies, mostly biochemical or genetic, to prove that a certain gene causes that disease.
More recently, Professor Morava has been focusing on developing new therapies with several doctors, technicians and students.
It is hands-on lab work, for example, culturing cells, evaluating proteins, looking at genetic manipulations to see whether a gene is functioning abnormally and that is causing the phenotype. We do natural history studies, clinical trials and training for students, residents, and fellows who are joining us to learn about CDG.
Collaborations with labs on a global scale: the significance and opportunities sufficient funding provides
Joining Mayo Clinic three years ago, Professor Morava feels “very fortunate” to have received the Frontiers of CDG Consortium grant. With sites in the US and Europe, researchers and other CDG associations collaborate in research, making a huge difference to the speed at which research is developed. “Mayo Clinic was amazing; they supported me a lot to get all the documentation completed and the grant submitted.” With the grant supporting the notion to serve all individuals living with CDG, including travel assistance and educational resources, Professor Morava has seen a huge difference in the number of individuals with CDG she has been able to support: “I saw 100 CDG patients in the last 18 months at Mayo Clinic, which is just amazing.”
All those involved: physicians, scientists, parents and so on, they’re all so devoted.
Putting families at the centre: accelerating CDG research
CDG associations and families have played an essential role in securing the grant: “We could never have got the grant without the patient organisation: they were a part of the whole proposal.”
Professor Morava provides an example of how individuals living with CDG were able to drive forward research in a clinical trial in Europe: “There was a clinical trial, a pilot with a new medication for PMM2-CDG, and it was concluded that it could be a beneficial approach”. There was a need to repeat the study using a placebo approach to ensure the findings were accurate; however, there was no funding. The not-for-profit CDG association, CDG CARE (Community Alliance and Resource Exchange), reached out to sponsors and CDG family members and got enough money together to set up the trial as a double-blind placebo-controlled trial: “With the support of the patients, we were able to set up the trial, and have begun enrolment. It’s amazing to see this in action: we are in total harmony, and the support is clear from both sides.”
Identifying unmet needs and directions for future research
Despite establishing CDG clinics around the world, in the Netherlands, Belgium and the US, Professor Morava explains that the limited number of CDG specialist clinics means that not everyone has equal access to expertise and good disease management.
We need funding to establish new specialist centres globally and to help with travel expenses to ease the financial burden for families, many of whom have to travel great distances.
Professor Morava also feels it is equally important to empower both CDG families and medical professionals. “Even with a diagnosis many families don’t know that they could be part of a care network and community for CDG. Being connected to other families and experts is a huge lifeline.”
Attending video consultations with CDG families and their local clinician means Professor Morava can support both the patient and the clinician. This support, empowering health care professionals, will in turn, lead to increased diagnosis and a greater network of professionals interested in CDG and knowledgeable about it, local to where families are.
I hope that we can put more effort into education, not just patient education, but
Thinking of the future for CDG research and the clinical trials under way, Professor Morava highlights the vast variations of the disease and how important it is to “think about this group of disorders globally”. With more than 140 CDG, current therapy research only looks at a few of these. “Moving forward, I would like to see research into more types of CDG to tackle the huge unmet need for these families.”
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World Conference on CDG: the largest CDG event worldwide
From May 13th to May 16th, the Portuguese Association of Congenital Disorders of Glycosylation and Other Rare Metabolic Diseases (APCDG), together with the CDG & Allies - Professionals and Patient Associations International Research Network (CDG & Allies - PPAIN), held the 5th World Conference on congenital disorders of glycosylation (CDG). The event was hosted virtually by Vanessa Ferreira, president and founder of APCDG and operations team member at the World CDG Organization (WCDGO). “The online option ensures access, equity and inclusion for all participants'', Vanessa explains.
This biannual conference is considered the largest CDG event worldwide, with 423 participants from 32 different countries attending. This included families, health care professionals, researchers and pharmaceutical industry representatives.
A space for open dialogue between all CDG stakeholders
The conference provided a platform where all individuals in the CDG community could have their voices heard. There were 22 sessions across 9 main themes with an incredible 18 posters presented. This also included panel discussions from families and stakeholders in an effort to strengthen communication and champion the unity of the CDG community.
The following is an overview of a round-table discussion to identify the primary needs of people living with CDG and their families. The theme of the session was ‘objectives, goals and wishes for CDG’ and all panellists were invited to contribute. It also provided the opportunity for updates on newly established CDG organisations and the latest developments from researchers and international studies.
Objective: disease awareness
Addressing the lack of awareness of CDG, both on an international and local level, was a common goal for families and other stakeholders. A particular emphasis was put on the importance of raising awareness for all types of CDG and not just the most common: PMM2-CDG.
Goal: understanding disease progression
CDG is like a blank sheet of paper, each one draws their life story differently. All are different, regardless of their subtype.
For some CDG current therapeutic and dietary interventions are increasing life expectancy; however, there is little data on disease progression and the related struggles families face as children become adolescents and adults. Understanding the natural history across CDG was highlighted as a priority by both families and researchers.
“Care for adults should be as good as the care for children—this is not always the case”, explains Professor Jaak Jaeken, the first doctor to publish a clinical description of PMM2-CDG.
Wishes: specialist outreach centres and coordination of care
Although an increasing number of CDG specialist centres are being founded around the world, there is still a need for increased specialist outreach services. Families who do not live near a CDG centre shared their feelings of “isolation and a lack of equal access to care”. This postcode lottery places a huge burden on families, and they shared their hopes for more funding to help them with travel costs and medical insurance. This was deemed crucial to enable equitable care for all CDG families.
Sharing information and improving the dialogue between all CDG stakeholders for better coordination of care was also highlighted, and Professor Jaeken stressed the need for “emotional and physiological support” as part of multidisciplinary care.
Objective: education and structures for successful clinical trials
Being informed of and partaking in clinical trials was considered a priority for many CDG families: “It is so important to be involved in clinical trials to improve the quality of life for CDG children”, explains Tata Tsintsadze, founder of CDG Georgia.
It is so important to be involved in clinical trials to improve the quality of life for CDG children.
From a pharma perspective “access to information and education on clinical trials and research” is considered a high priority by Dottie Caplan, Snr V.P of patient advocacy at Applied Therapeutics. Dottie explained that helping the CDG community feel prepared when a trial is announced will empower individuals to step into the trial process much sooner: “research cannot advance without engagement and participation from the community”.
The importance of a balance between speed and thoroughness was discussed. Structured, people-centred trial design is needed to ensure the best possible trial outcomes. The need to include participants from diverse cultures and geographical locations to take into consideration different genetic backgrounds was also raised.
Goal: driving research through trusted relationships
Building trusted relationships between the community and stakeholders to continue driving research was considered fundamental. Journey mapping, improving diagnosis to identify more patients, and understanding where to direct new research were all highlighted. “We recognise that every piece of information we learn about this disease is precious”, Dr Marc Patterson at Mayo Clinic explains, “we need to find a way to capture this to benefit the whole community.” Dr Patterson discussed the need for an international database driven by the families which includes data from both medical professionals and families. The doctor believes that having this database will help uncover information on research gaps, for example, why CDG causes brain malfunctions. “We need to start treating causes, not symptoms”.
We recognise that every piece of information we learn about this disease is precious.
The study ‘CDG Journey Mapping’, which aims to learn about the journey of people living with CDG and their families hopes to support these goals.
More than just an international meeting: “genuine friendships and collaborations are made.”
This event symbolises support, strength, hope and friendship.
For more information and support around CDG please go to:
The first diagnosis Fiona received was liver fibrosis. She was admitted to hospital many times. On one occasion a doctor happened to be reading an article about CDG. He noticed Fiona’s symptoms and wanted her to be tested for CDG. ‘‘He had been reading an article about CDG which reported that MPI-CDG (CDG 1b at that time) had been discovered, but there was only one boy in Germany with it. Yet the test result came back and Fiona had MPI-CDG she was only the second person in the world to be diagnosed with the condition. ‘‘When I discovered that I had MPI-CDG a lot of things fell into place.’’ Fiona was in hospital for over a year when she was diagnosed with MPI-CDG. Her condition worsened when she got older. She was suffering from ammonia poisoning due to the fibrosis deteriorating into cirrhosis and she needed to be on an oxygen machine 24 hours a day and was living in constant pain, but the doctors were at a loss about how to help.
Fiona was a member of the Dutch metabolic disorder patient group (VKS) where she had met Professor Eva Morava, a paediatrician who specialises in CDG and metabolic disorders. Fiona remembered meeting Eva and reached out to her. ‘‘When the doctors in the hospital where I was being treated originally, gave up on me, I contacted Eva and she suggested a liver transplant.’’ Fiona also met Dr Mirian Janssen, a metabolic disorders specialist who is now one of her doctors; she was working with Eva in the same hospital. “Although Eva and Mirian suggested a liver transplant, the transplant couldn't take place in the Radboudumc in Nijmegen because they don’t do liver transplants. I had to go to the UMC Groningen for the transplant.” Fiona waited for the go ahead and finally the telephone rang. ‘‘It was New Year’s Eve and it was the doctor: There was a new liver for me!’’
When I discovered that I had MPI-CDG a lot of things fell into place.
A transplant on a patient with MPI CDG had not been attempted before and the operation was complicated. Afterwards, Fiona suffered with internal bleeding in her legs which mean she had to learn to walk again and undergo yet another surgery. The road to recovery was long and it took many months, but ultimately the transplant was a success. This drastically improved Fiona's life: many of her symptoms subsided and she was feeling better each day.
The doctor said the new liver was like a missing puzzle piece being put in place but because of all the side effects of the immunosuppressants I was on after the transplant and the lack of CDG expertise in that hospital, Mirian suggested going to Professor David Cassiman in the UZ Leuven (Belgium) as he specialises in CDG and in liver transplants.
The impact of CDG on Fiona’s life
Due to the time Fiona spent in hospital, she missed a lot of school, which took a toll on her studies. Fiona managed to get through primary school, but secondary school was more challenging; she was kept behind to repeat years, which was difficult for her socially and emotionally. ‘‘I was in class with children who were two years younger, and at that age, that was really tough.’’ When Fiona went to college, she would sometimes study from the hospital, leave to take exams, and then make her way back.
Fiona also feels her independence was taken away by CDG so that she missed a lot of social milestones as a young person. ‘‘When I was studying journalism, I had enough. I couldn’t go out, I couldn't live on my own... I tried to live on my own: I had an apartment, but every two or three days I went home to my parents because I was ill—because it was too much.’’ (Fiona pull out quote). So, CDG impacted not only Fiona’s social life but her emotional well-being too. Eventually something had to give: “I gave up my apartment. That was really tough because I didn't get to have the student life.’’
Support and where it is missing for a life with CDG
Fiona was supported by her family and by Professor Eva Morava and Dr Mirian Janssen. Fiona expresses her gratitude for having met Eva who, she believes, really saved her life.
Fiona feels there was a lack of support in most hospitals. She describes a constant struggle to be believed, ‘‘It is always a fight to prove what is wrong with you. Even though you are so ill, you have people not believe you or think that you’re exaggerating because CDG can cause strange things, things doctors have never heard about.’’ She explains how doctors need to believe the patient’s experiences and understand that these can be really helpful. She stresses the importance of having more psychological support and how the key in terms of support is doctors having more awareness. ‘‘There has to be more awareness that CDG has an impact on your whole body. It’s not just a physical disease; it has an impact on everything.’’
It is always a fight to prove what is wrong with you. Even though you are so ill, you have people not believe you or think that you’re exaggerating because CDG can cause strange things, things doctors have never heard about.
Research and CDG
Fiona’s contribution to current and past research is immense. The transplant was a first of its kind. The doctors were able to monitor what CDG symptoms improved because of the new liver. Fiona had a transferrin test which was completely normal after her transplant. They asked if they could have a piece of my old liver and it went to hospitals for research.’’ Fiona also plays a key role in raising awareness of CDG and gives presentations to doctors and students to explain how her life changed after the transplant: ‘‘You get to show them what happened and how it affected you, and then you’re not so theoretical anymore.’’
Fiona feels it is so important to educate others in the CDG community and beyond: ‘‘We have a patient group which the doctors can come tell about the latest research.’’ The group is working with doctors to create a digital CDG passport for CDG patients and families. Each patient or parent can fill in their own information. This is so useful because it can act as a guide explaining about CDG and the important things to know about a specific patient for babysitters, school, nursery, etc.
A top priority for research, in Fiona’s opinion, should be finding why CDG can cause such different reactions to medicine in comparison to people who do not have CDG and the effect the disorder has on the immune system and hormones.
For more information about the organisations mentioned in this article please go to:
For more information and support around CDG please go to:
About Wolfram Syndrome UK (WSUK)
WSUK is a small national charity based in West Sussex that supports children, young people and adults affected by Wolfram Syndrome (WS) and their parents/wider families. WS is an ultra-rare genetic disorder which causes a complex range of symptoms, including diabetes mellitus, vision problems, renal problems, deafness, and neurological problems. WSUK provides current, accurate and family-friendly information, raises awareness of WS among health professionals and the public, and helps to fund WS research. For further information about the charity visit:
WSUK about the adult support worker role
WSUK is seeking a part-time adult support worker (two days, per week 0.4 FTE, £9k-£11k per annum). This home-based role will provide support to WS affected adults and their families to help improve the quality of their lives. Through liaising with professionals, external or advocacy organisations, this role will help facilitate access to the services to which WS affected adults and their families are entitled. The support worker will help adults and their families to increase their confidence and independence in living with their condition. This role will also act as an important point of contact for WS affected adults, providing advice and support in confidence. As this is a new role, there is opportunity for the successful candidate to develop the role to best meet the on-going needs of WS affected adults and their families.
Skills and experience
Applicants should have several years’ experience in a similar position, working with people affected by sensory loss, long-term medical/genetic condition, or disability. Applicants should also have a strong desire to improve the lives of people living with a long-term condition or disability and be confident in talking with people with a range of abilities and diverse cultural backgrounds.
Applicants should have experience in homeworking and be confident in working independently on their own initiative and in managing conflicting priorities.
Some limited UK travel will be required (particularly to attend adult NHS WS multidisciplinary clinics in Birmingham, and the annual WS conference). Participation in regular trustee meetings via zoom (evenings) will also be expected. A DBS check will be required.
To apply, please email/ send your cv to firstname.lastname@example.org by July 2nd, 2021
Many organisations have refocused on their core mission during the pandemic and Genetic Disorders UK has been no exception with several changes announced this week.
The first is that Genetic Disorders UK is now Gene People.
Refocusing and renaming our charity was not a decision we took lightly. It demonstrates our commitment to the individuals and families living with the impact of genetic conditions across the UK.
Genetic Disorders UK (GDUK) was founded in 2012 and has grown to become a key source of information and support for both those affected by a genetic condition, and the charities and patient groups that support them. The trustees conducted a major review of its purpose by the trustees, leading to a new and exciting programme of change across all parts of the charity.
The Jeans for Genes Campaign (and grant programme) and Primary Immunodeficiency UK divisions have transferred out of GDUK to be run independently under new leadership.
The focus going forward will be on the remaining support and information-provision division. At the core of Gene People is the unique genetic counsellor-led helpline. The high-quality services provided will continue to grow in response to increasing demand, and over time Gene People will look for new ways to help the community of patient support organisations within the renamed Gene People Partnership Network.
“We have always put patient and family needs at the heart of everything we do.” said recently appointed chief executive Samantha (Sam) Barber, “We now want to grow and develop new and exciting ways of supporting the individuals and families we serve, and the patient groups who support them.”
“The publication of the new Rare Disease Framework by the Department of Health & Social Care gives us a great opportunity to support patients and families with genetic conditions.” Sam Barber said. “The team at Gene People are ready to rise to the challenge of working with our friends and allies to empower our community to better support patients and families with genetic conditions.
“I am delighted to join Gene People at this pivotal time for the charity and the sector. My previous experience at the Batten Disease Family Association and the Tuberous Sclerosis Association have demonstrated to me how vital patient organisations and groups are. They provide support, sometimes grants to those in need, fund research, and are key partners within the drug discovery process at all stages. The pandemic has proven the need for the services they give their communities, but it is hard work to be a patient organisation and I am determined that Gene People will help them to thrive.”
The team at Gene People are ready to rise to the challenge of working with our friends and allies to empower our community to better support patients and families with genetic conditions.
The changes do not stop there with a new Chair of Trustees with a long history within the sector.
Incoming Chair of Trustees, Alastair Kent stated “Genetic Disorders UK has an honourable tradition of providing timely help. The new name reflects our determination to continue to provide a patient- and family-centred focus to the work we do, and I am confident that Gene People will be a force for change in supporting those with genetic conditions.”
The top priorities for the new team at Gene People are promoting the Genetic Counsellor-led Helpline, and to increase the number of patient groups and organisations in the Gene People Partnership Network.
Alastair explained, “These two priorities are the driving pillars of our work. The Helpline complements other NHS services so well as our team can take time to make sure callers understand all that they need to. We have great feedback for this service so promoting it is fundamental to us. It is now available for four-days a week, which is a positive development.
We know that we can offer more and different things to the patient organisations and groups in the Partnership Network. We consulted with some partners at the very beginning of the review and have implemented some of the ideas for additional support already. There is more we can do, and we are continuing to refine ideas based on feedback from organisations – so expect to see new benefits announced in the coming months! Everyone at Gene People is very clear that we do not want to duplicate the efforts of other organisations in this field and are seeking to work together with others to create as much value for the sector as possible.
Current benefits of the Gene People Partnership Network include:
• free listing on the Gene People website with logo and link to the patient group website or page
• Gene People Partnership Network logo for patient groups to use
• exclusive access to the Gene People Partnership Network Facebook Group
• access to member-only Gene People Partnership Network virtual and in-person events
• invitations to participate in consultation responses co-ordinated by Gene People
• Discounted places at Gene People events where fees are charged.
A new name, new focus and new leadership all combining to bring new energy to this well-established charity.
The Gene People Helpline is available Mon-Thurs 9am-5pm via voicemail and email:
Organisations interested in joining the Gene People Partnership Network should use the button below to visit our website for more details and the simple form to complete.
This advertorial was written and paid for by PTC Therapeutics, Inc. and is aimed to be of interest to parents, patients, healthcare professionals and academics interested in the burden of care for children with rare diseases.
Complex, severely disabling childhood disorders take a huge toll on caregivers, as shown by first of a kind quality of life (QoL) data for the rare neurotransmitter disorder, AADC deficiency.1.
It is difficult to really understand how emotionally and physically demanding it is to care for a child with a life-limiting disease that not only requires 24-hour care, but one that is so rare that only those caring day-in-day-out for a child living with the disorder can truly understand. How do you manage having every waking moment consumed with tending to your child’s most basic needs, often while bearing their pain and distress? To have to visit as many as 24 doctors just to get some answers or a diagnosis? Then to live with the threat that your child will be taken too early by a common complication?
At this year’s Virtual ISPOR North America 2021 Conference, PTC Therapeutics presented the first data detailing the impact of providing care for people living with the ultra-rare neurological disorder, Aromatic L-Amino acid Decarboxylase (AADC) deficiency, which can present with similar symptoms to cerebral palsy. 2.
AADC deficiency - a severely disabling and fatal paediatric neurotransmitter disorder 3,4,5,6
AADC deficiency is caused by mutations in the dopa decarboxylase (DDC) gene.3 The condition decreases AADC enzyme activity, which in turn leads to a lack of key neurotransmitters, such as dopamine, impacting development, motor skills, growth, function, cognitive and language skills, and behaviour.3.
The condition typically presents from three to six months with hypotonia (low muscle tone), oculogyric crises (seizure-like episodes that cause the eyes to roll up in the head and can last for hours) and autonomic dysfunction (e.g., excessive sweating)7. In the patient quality of life data reported at ISPOR, the level of motor function ranged from having no motor function at all to being able to take a few steps without support.1. Most children with AADC deficiency were completely dependent on their caregivers for all aspects of their lives.1. Caregivers also reported a range of symptoms like gastrointestinal symptoms, sleep disruption, and excessive crying.3. One mother of a 7-year-old said:
He can’t sleep, and his eyes are just wide awake, and the frustration is all over his face, you can definitely tell that he has a lot of discomfort.8.
What does it mean to spend every waking hour caring for a child’s every need?
As with so many rare diseases, there is an underestimation of the colossal impact endured by a family caring for a child with AADC deficiency. To help understand the burden, PTC sought insights from twelve caregivers from Italy, Portugal, Spain and the United States via online questionnaires.
These data, presented at ISPOR, found that the primary carers for children with AADC deficiency spend on average 13 hours per day, or 90 hours per week caring for their child’s basic needs, like washing, dressing and feeding, as well as providing much-needed comfort and emotional support.1. Time spent varied but ranged from 56 to as many as 140 hours per week.1. In addition, primary carers also spend an average of 15 hours a week planning activities or travelling to and attending appointments related to the child’s condition.1. This means an average total of 105 hours per week, or 15 hours a day, of care, leaving barely enough time for sleep, let alone anything else.1.
For most, the burden cannot be shouldered by one person alone, with more than half of the caregivers (55%) needing additional help, paid or unpaid, to supplement the care they were providing their child.1. The unpaid support usually came from a partner who provided, on average, 37 hours of help a week.1. If families hired additional support, it was provided by a registered nurse or training nursing assistant who provided, on average, 27 additional hours of help.1.
The knock-on effect for caregivers is huge, affecting every aspect of life. 75% had to either reduce their working hours or stop work completely in order to care for their child.1. Caregivers are challenged to find time for themselves, even just to take a shower, let alone exercise or socialise.
Several participants in the study described how being a caregiver had a substantial impact on their emotional and physical wellbeing, with reports of depression and anxiety, as well as back pain and lack of sleep.9. These caregivers expressed a feeling of fear for the future. 8.
Seeking a diagnosis for AADC deficiency – a long and winding road
The low awareness of this rare disease means that the journey to diagnosis can be extremely challenging for patients, with some having to travel extensively, sometimes outside of their home country, to receive the correct diagnosis. For parents, the financial and emotional implications of navigating a complex diagnostic journey while also caring for a very disabled child can be extremely distressing.
Results from the study presented at ISPOR, showed that caregivers saw between 1 and 24 clinicians or experts before finally getting a diagnosis – a process that took an average of 19 months from the first symptom being acknowledged.1.
We need to value the experience of carers
Previously, researchers have compared caregiving to being exposed to a severe, long-term chronic stressor.10 Whether physical, social, mental or financial, the burden of looking after someone with a rare disease, like AADC deficiency, is substantial and and it is therefore important that this is given due weight when considering the overall disease burden.
ISPOR – the Professional Society for Health Economics and Outcomes Research – is an international, multi-stakeholder, non-profit organisation
that aims to improve healthcare decision making through scientific research.
EE/AADC/UK/21/0026 | Date of preparation: May 2021
About PTC Therapeutics, Inc.
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us on www.ptcbio.co.uk and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.
1. Buesch K, Williams K, et al. Caring for an Individual with Aromatic L-amino Acid Decarboxylase (AADC) Deficiency: Analysis of Reported Time for Practical and Emotional Care and Paid/Unpaid Help. Poster presented at Virtual ISPOR North America 2021 Conference.
2. Chien YH, et al. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. Mol Genet Metab. August 2016;118(4):259-263.
3.Wassenberg T, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.
4. Hwu WL et al. Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. JIMD Rep. 2018; 40:1-6.
5.Himmelreich N, et al. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12-22.
6. Chien YH, et al. Lancet Child Adolesc Health. 2017;1(4):265-273.
7. Pearson TS, Gilbert L, Opladen T, et al. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis. 2020;43(5):1121-1130.
8. Williams K. et al. Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency: A qualitative study. Poster presented at Virtual ISPOR North America 2021 Conference.
9. Skrobanski H, et al. A qualitative study on the impact of caring for an individual with aromatic l-amino acid decarboxylase deficiency (AADCd) [Abstract] ISPOR US 2021.
10. ScienceDirect. Caregiver Burden. Accessible at: https://www.sciencedirect.com/topics/medicine-and-dentistry/caregiver-burden. Accessed May 2021.
Surjeet Kaur (Ritu) is a multiple sclerosis (MS) warrior and inspiring advocate. Since her diagnosis in 2012 Ritu has gone on to create a global community for MS patients and those that support them. With a following of over 20k on social media Ritu is creating a hub for education, awareness and acceptance of MS amongst the patient’s families, friends, colleagues and society.
It was an ordinary day in November 2012 and I woke up with a stiff neck. I tried to brush this off thinking I had slept funny. This sensation then progressed down to the right side of my whole body with extreme touch sensitivity. In addition, I started to experience the strangest electric shock sensation throughout my body. Slowly my right side became so numb that I had started limping and I couldn’t even eat food by myself.
It was difficult to understand what was actually happening to me and what my future would look like
Little did I know that something I thought to be so simple would change my life forever. After visiting a number of neurologists who undertook various tests, I was diagnosed with multiple sclerosis (MS). MS? I barely had an inkling about what MS is let alone be faced with such a diagnosis myself. Despite my shock and the endless questions spinning through my head, I was somewhat relieved that I was finally given a diagnosis so that I could start to look at the road to recovery.
I had lots of questions pondering in my mind like, what about my future? Will I be able to walk properly? Will I die early? Will I be able to work like before? Will anyone accept me and marry me?
It was difficult to understand what was actually happening to me and what my future would look like. However, I was thankful for my family who supported me in every way. My sister who is a near specialised physiotherapist had a great role to play in the diagnosis of MS. My parents supported me mentally and financially. Whereas my little brother has been my strength and reason to smile.
I also create various MS Awareness campaigns in which I invite MS patients to participate. Some of the successful MS campaigns we have done are “Workout MS” , “How MS Feels” and “Beat MS With”. These campaigns are available on our IGTV and YouTube channel. Currently we are running a campaign called “We Switch MS” campaign.
To create knowledge about MS, I regularly interview multiple sclerosis specialists, doctors, nutritionists etc via Instagram Live which has proved to be extremely popular amongst the MS Community. What is great is that fellow warriors can put questions to the experts during my live sessions for free of charge. So if someone needs an opinion of an MS specialist, they can ask their questions without any hesitation or fear.
What is great is that fellow warriors can put questions to the experts during my live sessions for free of charge
Recently, I also launched a podcast “10 Minutes for MS”, where I interview doctors to speak about various topics related to MS. All of my content is available free of charge, at no cost at all to my viewers and listeners. This podcast is streaming on all major platforms like Spotify, Apple Podcast, Google Podcast and YouTube.
Today, I feel confident and strong. It is said that “everything happens for a reason” and I think that MS has given me a reason to do something great for the society and help others. I have become a torchbearer and spread awareness with love and courage to face it.
I have been an MS warrior for the last 9 years and in these years I have learnt that MS is a unique disease and it is different for everyone. No two patients of MS are alike and not everyone, as is widely believed ends up in a wheel chair. Through my efforts I am trying to remove the fear about MS and the taboo associated with this disease, so that the patients can live without fear and there is acceptance for the same in the society.
MS just doesn’t affect a person physically; it also affects mentally and can cause depression. When we as MS warriors are fighting with MS, we are also fighting with mental health. MS caregivers and society need to be educated around MS. MS is definitely nothing to be ashamed of and MS doesn’t define any person, we are stronger than MS.
World multiple sclerosis day is celebrated on the 30th May each year, to find out how you can be involved and raise awareness for everyone affected by MS go to:
For more information about Surjeet Kaur (Ritu) and her advocacy please click the buttons below:
The International Gaucher Alliance: a foothold in national grassroots advocacy and a collaborative global perspective
Q. Can you tell us about the IGA and the areas it operates?
Back in 1994 in Trieste, Italy, at the first European Working Group on Gaucher Disease, several different European patient groups sat in the back row and listened to the presentations. This was the beginning of the European Gaucher Alliance (EGA). In 2018, the EGA changed its name to the International Gaucher Alliance (IGA) recognising its global constituency. Today we have 56 members representing 54 countries around the globe and represent approximately 85% of the global Gaucher community.
The IGA operates under three strategic imperatives that seek to achieve a strong voice for Gaucher patients through collaboration and partnership:
1.To improve Gaucher patients’ access to optimal diagnosis, treatment, and care
2.To influence the Gaucher research agenda so that it’s focused on addressing key unmet needs
3.To support member organisations to be more effective and sustainable
Q. How challenging is it to operate internationally and across languages and how does IGA overcome these challenges to represent patient organisations globally?
Whether it's disease awareness, access to care and treatment, or personal challenges (social and economic) connected to the countries the individuals with Gaucher disease live in, there are many challenges: our communities are so diverse. As an umbrella organisation we work with our members who support us by acting as volunteer translators and buddies across (geography’s) cultures and languages. We have also begun a review of our literature and in 2021 we will be working to translate some of our key information into several languages and use subtitles on our webinars.
Q. How important do you feel it is to the success of research and the development of new treatments to have this international approach?
As an international organisation we have an overarching view of everything that is going on through our collaboration with all stakeholders. We are therefore in an ideal position to bring people together with common goals and interests, drive research into areas of unmet need, and be able to contribute to research and the development of new treatments.
Q. Through your work and involvement across many countries what do you see as the biggest needs/challenges of the Gaucher community and is there much variation from country to country?
There is huge variation but also similar challenges. As a global community we can allocate resources by sharing best practices and using our knowledge and experience as an organisation to support national patient groups and individual patients and their families. The biggest challenges are access to diagnosis, treatment, and clinical care in many countries, particularly in low to middle-income countries, but also in many other parts of the world. Other challenges include: no licensed treatment for the neuronopathic manifestations of the disease; the delay in getting access to licensed treatment due to the high cost of the treatments even in countries with established healthcare systems; and the increasing understanding of the challenges comorbidities create for clinical care and treatment.
As a global community we can allocate resources by sharing best practices and using our knowledge and experience as an organisation to support national patient groups and individual patients and their families.
With COVID 19 impacting access to treatment, the IGA are now tackling this by working in collaboration with stakeholders to raise awareness of the benefits of home therapy, and to share best practices and exchange knowledge of where home therapy is available.
Q. Does working internationally highlight in-equity in healthcare and treatments for people with Gaucher disease and if so, is IGA involved in trying to address this?
Yes, for individuals with Gaucher and for those with rare diseases in general. All of our work, including work (or our collaborations) with other stakeholders, is guided by our three strategic imperatives, which are each aimed at achieving equity. Internationally, we focus on building sustainable infrastructures and are driven by the patient community to support them with the tools they need.
Our regional manager programme was developed to provide additional on-the-ground resources as the eyes and ears of the IGA in the many different countries where there are Gaucher patients but do not have any formal patient organisation or where there are many challenges. This programme seeks to collect information on the status of awareness, education, diagnostics, treatment, doctors, and patient numbers within a country and then develop a collaborative development plan with all stakeholders to build a sustainable infrastructure for patient care and support.
To read part two of this article, 'UK Gaucher Alliance: a foothold in national grassroots advocacy and a collaborative global perspective', click here:
To continue learning about Gaucher disease and patient support you can read the following articles in this Digital Spotlight here:
Journey to diagnosis: “They didn’t think to look for a rare disorder in such a small community.''
Looking back, Pierre’s short stature, his bruising easily and his unexplained stomach pain all pointed towards the diagnosis he would eventually receive. But it wasn’t until Pierre was rushed to the ER with severe and progressive abdominal pain that the pieces of the puzzle started to come together. He was 15 years old. It was 1995 when the doctor in the ER room raised concerns that Pierre had an enlarged liver and spleen. An ultrasound was ordered and showed gallstones. Pre-op blood tests were scheduled and Pierre was given an operation date to remove his gallbladder a month later.
Post-surgery, Pierre’s surgeon expressed concerns over not only the size of Pierre’s gallbladder, which was more than twice the normal size, but also the amount he bled during surgery. On inspection of Pierre’s medical chart, it was discovered that the surgeon had not been given the results from Pierre’s pre-op blood test. Pierre was sent home to recover from his surgery while they tracked down the results. Two weeks later, Pierre’s family received an urgent call.
Pierre was told his platelet count was very low and, fearing it was leukaemia, he was referred to a hematologist for a bone marrow test. Following the test results, Pierre was presented with the term that would soon become a significant part of his life: Gaucher disease. It was now March 1996, seven months after his admittance into the ER.
Pierre believes the length of his diagnostic journey was partly due to the population size of where he was living. Pierre explains,
In big cities with higher populations, doctors are exposed to more cases of rare disorders. Doctors don’t really think of looking for these rare disorders in such a small community.
Gaucher and bone pain: understanding pain levels
Pierre explains there are two types of bone pain: day-to-day bone pain, which Pierre learned to live with over the years and managed with medication, and bone crisis. Pierre explains, to those fortunate enough to have never experienced it, how a bone crisis can feel:
If breaking a bone is a 10/10 pain, then bone crisis is an 11.
For Pierre, a bone crisis could last anywhere from a few days to a week and sometimes even longer with pain levels so high it was impossible to sleep.
The difficulty in raising awareness for invisible symptoms like bone pain and fatigue: “I don’t look sick.”
Invisible symptoms such as chronic and severe pain and associated fatigue is often misunderstood and the burden underestimated. Pierre suffers from fatigue frequently as a symptom of Gaucher disease. Often, very active days can leave Pierre feeling exhausted, and his evenings are spent recovering.
Fatigue is something that’s really hard to explain to people. My immune system is constantly trying to fight my disease, but because it can’t get rid of it, the result is chronic fatigue. This is my normal.
To demonstrate just how misunderstood invisible illnesses are, Pierre shared with us the experience of a National Gaucher Foundation of Canada advocate, who was trying to have a newly approved treatment for Gaucher approved in Canada. The advocacy leader had met several times, unsuccessfully, with health ministers to fight for the approval of the new treatment. However, prior to one such meeting, the advocate had a bone crisis and rearranged the meeting to take place at the hospital where he had been admitted. The Deputy Minister of Health now saw him at his worst. “That’s what it took for treatment to be to be approved in Ontario. At every meeting before that, he had been viewed by others as healthy and his condition not treated seriously because he didn’t look sick.”
Early disease intervention: issues with meeting health requirements
With Gaucher, and in the case of many other rare diseases, access to treatments depends on the individual being eligible. This can mean that some people may be deemed “not sick enough” to benefit from new therapeutics, and this difficult balancing act must weigh up the benefits of early disease intervention and need for treatment.
In Canada, where Pierre lives, there are certain requirements and criteria that must be met in order for patients to start treatments. In Pierre’s case, he did not meet the criteria for some time; however, his bone crisis in 1998, meant his doctor was then able to champion his cause and successfully apply for treatment approval.
My Gaucher Expedition
To continue learning about Gaucher disease and patient support you can read the following articles in this Digital Spotlight here:
National Gaucher Foundation of Canada | The power of individual stories to spark widespread advocacy
Christine White, President of the National Gaucher Foundation of Canada, discusses how publishing personal Gaucher stories acted as a catalyst for widespread media campaigns that gained political attention resulting in access to a new life-changing therapy for the Gaucher community.
Q. Can you tell us about your work with the National Gaucher Foundation for Canada and how your organisation supports your community?
The National Gaucher Foundation of Canada was founded by—and continues to comprise—individuals living with Gaucher and family members of those individuals. We support our community through education, advocacy, peer support and much more. We provide support to those affected by Gaucher disease every step of the way, up to and including helping to facilitate a diagnosis.
Q. What do you feel are your community’s biggest needs/challenges and how does your organisation work towards trying to resolve and raise the agenda for these?
Currently, our biggest challenge is access to new medications; for example, we do not have a first-line oral therapy listed on our provincial formulary—drugs for Gaucher in Canada are paid for by the government, and only those Canadians who have private insurance have access to therapies that are not listed with provincial plans.
We will have the opportunity very shortly to submit evidence to the government that this is an impactful and necessary therapy for patients; we have been successful in the past in gaining access and are hopeful that we can demonstrate a strong need for oral therapy.
This very unfair policy often results in patients being “prisoners in their own province”.
Q. I read on your website how instrumental you were in making the treatment Ceredase available in Canada, how challenging is the topic of treatment equity, and what advice would you give to patient organisations who face a similar challenge?
Treatment equity is still a big challenge here in Canada, quite often where you reside will determine which therapy you receive. This very unfair policy often results in patients being “prisoners in their own province”. This means that even if a patient has access in their province, moving elsewhere in the country could result in a change in drug therapy.
As we work very closely with the Canadian Organisation for Rare Disease (CORD), we recently had the opportunity to make a submission to Health Canada regarding a federal rare disease strategy. I would advise patient organisations that have similar challenges to reach out to CORD and other patient organisations for support and advice.
I find the rare disease community is very collegial and greatly supportive of one another here in Canada.
Q. With some treatments already in existence for Gaucher disease, why is there a need to keep researching new treatments?
Currently, the available therapies do not address the needs of all individuals living with Gaucher. At present, there is no cure for type 2 Gaucher disease, and sadly, many infants and very young children die. Also, there is not an effective treatment available for type 3 Gaucher disease as current therapies do not cross the blood-brain barrier. This leaves little hope for individuals afflicted with the more severe forms of Gaucher.
Q. What can people with Gaucher disease do to get involved with advocacy and why is it important that they do so?
One of the key strategies in advocacy is awareness—it is important for individuals living with Gaucher to tell their stories. For example, we gained access to a life-changing therapy once we began an awareness campaign through the media. Before our media exposure, every request we made to the government was denied, but once people heard the stories we promoted, they began to pressure the government to change their position which resulted in a successful outcome.
To continue learning about Gaucher disease and patient support you can read the following articles in this Digital Spotlight here:
Cyndi Frank, co-founder of the Gaucher Community Alliance (GCA) spoke with us about driving their fledgling organisation through listening to the community.
What is the Gaucher Community Alliance and what services does it offer to individuals with Gaucher disease?
Founded in 2019, the GCA has established itself with a clear mission to provide peer support and community-building for individuals living with all types of Gaucher disease. The alliance is a diverse community of individuals living with Gaucher, family members and representatives of Gaucher disease. The team works closely with other representatives, including the executive director of the Canadian NGF, a professional advisory council made up of patients, doctors, industry representatives and other partnerships, who all meet twice a year and discuss how they can work in harmony to best support one another and patient needs.
Cyndi and fellow co-founder, Aviva Rosenberg, are enthusiastic about collaboration and “conquering that patient advocacy triangle” (those with the disease, the industry, and healthcare professionals). The GCA is passionate about keeping lines of communication open, with a strong emphasis on the importance of regular and, most importantly, transparent communication from all parties to tackle unmet needs and issues.
The GCA aims to ensure everyone who wants to be involved in the community is both enabled and encouraged through a “buddy system”. The buddy system offers volunteers partnership opportunities with other individuals who are interested in similar areas of volunteer work and who may have more experience of it. This often helps individuals to feel more involved in the community and feel supported.
What are the biggest needs for the Gaucher community and how well are these currently being addressed?
High prices of drugs and insurance issues are some of Cyndi’s biggest concerns when it comes to community needs. Cyndi explains that the GCA team is working hard to address this area and will not allow this topic to fall silent. The GCA has built a programme around this issue through the use of volunteers who have now formed their own committee.
Issues around treatment access for types 2 and 3 Gaucher are also a problem due to there being no treatment that can cross the blood–brain barrier. With more treatments now available for type 1 Gaucher disease, there is a clear demand for more transparent information to allow people to make informed choices. The GCA is working hard to ensure this content is more widely available to the community via reliable and trusted medical organisations.
Opportunities for research in Gaucher disease: issues around condition management
Gaucher disease affects individuals differently, even within the same type and family. Some individuals have mild symptoms while others will have more severe symptoms, and for some, bone pain, inflammation and fatigue are parts of their symptoms. Cyndi believes that more research is needed into controlled diets for managing symptoms associated with inflammation, such as bone pain. As some emerging studies are beginning to link diet to inflammation levels, Cyndi feels the timing could be right for research in this area for Gaucher and that conversations and research on the topic could lead to a substantial discovery in aiding condition management.
Leveraging technology for global education: GCA’s webinar events
Safe, warm environment where individuals can share information
For anyone considering joining one of GCA’s webinar events, you can expect to hear important discussions on topical news in the Gaucher community. The GCA’s live webinar events offer a secure space to interact with guest speakers by allowing viewers to ask questions in a chat room which can then be answered live. Cyndi describes the webinars as a “safe, warm environment where individuals can share information”.
GCA’s most attended webinar, Gene Therapy: A Personal Gaucher Story, can be accessed freely on the GCA website. The webinar hosts several guest speakers, including Dr Aneal Khan of Alberta Children’s Hospital in Calgary, who discuss both a new gene therapy trial to treat Gaucher disease type 1 and the science behind it. The webinar also features Shondra, the first individual to be dosed in the clinical trial for a new investigational gene therapy. Shondra shares a raw account of her journey from diagnosis to therapy and the reality of how it affected her.
Engaging their community: future plans for the GCA and how to deliver big ideas with a volunteer team
With great excitement and anticipation, Cyndi discusses her plans to run in-person events after Covid-19 restrictions lift, including a large-scale conference to feature speaker sessions and workshops.
Future plans also include a Youth Advisory Committee, a more interactive social media platform to connect with a younger community and welcome boxes for those who are newly diagnosed.
The GCA is committed to services that support long-lasting connections with their community, whether they are adults or young people.
By reaching out to universities and opening the door for internship opportunities, students can help support permanent volunteers and bring particular skill sets to help develop a larger social media presence and form crucial connections between individuals with Gaucher disease.
Get involved: why should individuals get involved in advocacy?
The GCA are always delighted to hear from new individuals who either want to share their personal stories about living with Gaucher or to get involved in volunteer work for the community. The GCA continuously responds to unmet need through listening to their community. The more people who reach out, start conversations and feedback, the better GCA can respond to the unmet need-providing benefit to the wider community and driving more developments in research, collaborations and individual connections.
Gaucher consultant Dr Neal Weinreb: the function and complications of bones in individuals with Gaucher and advice to physicians and patients in managing and tracking symptoms
Despite being a busy practicing hematologist-oncologist, I was able to retain my interest and involvement in GD developments. When enzyme replacement therapy for GD was approved in 1991, I became a founding member of the International Collaborative Gaucher Group (ICGG) Scientific Advisory Board and a regional coordinator for the newly organized ICGG Registry. In this capacity, I functioned as an educator and advisor for physicians who were interested in caring for GD patients and had the opportunity to collaborate in clinical research with remarkable GD expert scientists and physicians from all over the world. During my career, I have cared for about 250 GD patients and I have been privileged to participate as an investigator in many of the key clinical trials and studies that have greatly advanced our knowledge of the natural history and management of patients with this rare disorder.
Q. What are some of the unmet needs and challenges when treating Gaucher disease?
We still do not fully understand why the manifestations of Gaucher disease are so variable and the course is so unpredictable. The most common type of GD in the Western world (type 1) rarely affects the brain except in a small number of patients who develop GD-associated Parkinson disease later in life. However, other GD variants (types 2 and 3) are associated with brain damage that begins early in life and with death at a young age. Current treatments are largely ineffective for the neurological manifestations. However, there are some promising new treatment approaches under investigation. Because early diagnosis of these variants may be crucial for treatments to be effective, it is important to develop programmes for newborn screening or even prenatal screening in both developed and developing countries.
One of the triumphs of ERT is that splenectomy is now very uncommon and we rarely see young wheelchair-bound GD patients.
Regarding type 1 GD, it is challenging to treat older individuals who suffered irreversible bone or liver damage before effective treatment became available. Such patients require intensive palliative care and multifaceted interventions to minimise pain and disability. We also know that medical practices such as removal of the spleen that were unavoidable before the advent of modern treatments likely contributed to disabling skeletal disease. One of the triumphs of ERT is that splenectomy is now very uncommon and we rarely see young wheelchair-bound GD patients. Nevertheless, it is frustrating that some patients continue to suffer bone pain and disability either because they are not diagnosed sufficiently early or because initiation of treatment is delayed. Finally, ERT may not prevent all bone complications. Hence, new treatments with different mechanisms of action continue to be investigated and introduced.
Q. Can you tell us a little bit about how our bones work in general and what causes the bone complications in the case of Gaucher?
Bones are made up of two compartments, the external calcified bony framework and the internal bone marrow. All the body’s blood cells and immune regulatory cells are made in the bone marrow. One type of bone marrow cell that can also travel throughout the body is called a macrophage. This type of cell grabs on to, internalises, and disposes of foreign substances like bacteria that get into the body. It also signals immune cells to make antibodies to fight the invader. Macrophages “eat” old blood cells that are ready for “retirement.” In GD, because of the deficient glucocerebrosidase enzyme that causes the disease, macrophages cannot digest everything that they eat and become engorged with glucocerebroside substrate. We call them Gaucher cells. Gaucher cells respond to “indigestion” by creating inflammation. We believe this at least partly explains some of the pathology of GD.
The skeleton is a living tissue that constantly must be nourished and replenished. Without this process, bones would develop microfractures and become brittle and snap.
The strength and integrity of the bony skeleton also depend on bone marrow cells. Osteoblasts deposit the calcified bone matrix and become the mature bone cells that keep the bone alive. Specialised macrophages called osteoclasts absorb and remodel the bones. The skeleton is a living tissue that constantly must be nourished and replenished. Without this process, bones would develop microfractures and become brittle and snap. Osteoblasts and osteoclasts normally operate in balance. The osteoclasts absorb the old bone matrix and the osteoblasts lay down new, fresh bone. In patients with GD, the osteoclasts are on overdrive and the osteoblasts are “poisoned” by a chemical product of GD called glucosylsphingosine and fail to do their job of creating new bone. Consequently, there is a net loss of bone substance, calcium crystals are not deposited normally, the bone becomes thinned out, weak, and brittle and prone to fracture even with minimal stress.
Q. What is a bone crisis?
Inflammatory cells rush to the area to clean up the dead tissue and release chemicals that cause redness, swelling and intense pain. Hence, a bone “crisis.
As Gaucher cells fill up the bone marrow, they may increase fluid pressure around the blood vessels and cut off supply of oxygen causing bone death (necrosis). Inflammatory cells rush to the area to clean up the dead tissue and release chemicals that cause redness, swelling and intense pain. Hence, a bone “crisis.” Inflammation associated with the bone crisis can lead to fever and mimic an infection of the bone (osteomyelitis). There is no need for antibiotics and biopsies are inadvisable as they may increase the risk for actual infection. Bed rest and pain medications are usually indicated until the acute symptoms subside. Subsequently, physical therapy can help restore the function of the bone. Sometimes, however, the bone and its joints may never get back to normal and eventual joint replacement may be necessary. Fortunately, we are seeing fewer bone crises now that earlier diagnosis and treatment are more common.
Q. Is bone pain a red flag for Gaucher disease diagnosis?
Absolutely, although GD is certainly not the most common cause of bone or joint pain. If an individual has a significant bone problem and other findings commonly associated with GD such as an enlarged spleen or a decreased platelet count for which there is no logical explanation, then Gaucher disease should be considered. In children, failure of bone growth (short stature) can also be associated with Gaucher disease.
Q. What advice would you give to physicians in managing the bone care of their patients with Gaucher disease?
Take a detailed history at every visit. Ask about episodes of pain including location, frequency, severity, and the nature of the pain. Review all medications. Check for range of motion and observe how the patient walks.
Ask about falls and functional disabilities. In patients older than age 50, screen for immunoglobulin abnormalities (monoclonal gammopathy) annually as GD patients, even those with clinically mild disease, have an increased risk for developing plasma cell malignancies. Bone mineral density testing (DEXA)should be done at initial evaluation (whole body DEXA in children) and serially every 2-3 years. X-rays are of limited utility for follow up but MRI examinations of the lower extremities and low back are useful for monitoring bone marrow infiltration with Gaucher cells and calculating the bone marrow burden score.
Q. What pro-active steps can people with Gaucher and bone issues take in managing and tracking their symptoms?
Regular physical exercise, preferably supervised by a qualified instructor, is very important. However, high impact sports may not be advisable for patients with osteoporosis, an enlarged spleen or a bleeding tendency. Unhealthy substances like excess alcohol and cigarettes should be avoided as these are deleterious for bone health as well as health in general. A nutritious diet is commendable. Many patients with GD, even those on treatment, suffer from fatigue. Evaluation for a sleep disorder may sometimes be warranted.
A supportive network of GD-affected friends and families who understand what you are going through is also especially important.
Attention to mental wellbeing and freedom from anxiety is also important and should be openly discussed with your physician. Documentation of health-related quality of life scores can be useful in patient-physician communication. A survey instrument designed specifically for GD is currently in development.
Continuing education about the disease is an exercise in personal responsibility. There are many reliable resources available online for keeping up to date with new developments in Gaucher disease. A supportive network of GD-affected friends and families who understand what you are going through is also especially important. This is where Gaucher advocate organisations can provide great support.
UK Gauchers Association: a foothold in national grassroots advocacy and a collaborative global perspective
We provide an advocacy service to all individuals living with Gaucher and their families, including access to education, support to social care, and other personal non-medical issues. We pride ourselves in circulating up-to-date information on medical research and possible new treatments through newsletters, meetings, and online webinars.
We work hard to collaborate with clinicians, other patient groups, NHS England, and the pharmaceutical companies, ensuring voices from the Gaucher community are always heard. The Gauchers Association is committed to provide access to the highest standard of clinical care, share trusted information on new and appropriate treatments, and to drive research into unmet needs and securing new services that our community needs.
Q. Does the subject of bone pain/crisis come up a lot amongst your community and how much of an unmet need is this?
The Gaucher community is very heterogeneous and despite treatment being around for the visceral aspects of the disease for 30 years, we are aware that bone crisis is still very much an issue for our community.
Pain is extremely hard to measure and explain; however, with an earlier diagnosis and access to treatment and excellent clinical management, many individuals may not experience the type of bone disease we saw before treatment.
This is sadly not the case for older patients diagnosed before the advent of treatment and for other patients that for unknown reasons have major bone involvement or develop multiple myeloma.
There are also the bone aspects of neuronopathic Gaucher disease, such as kyphosis, that are not yet understood but continue to have an impact on the community.
Kyphosis is curvature of the spine that causes the top of the back to appear more rounded than normal.
Although everyone will have some degree of curvature in their spine, a curve of more than 45 degrees is considered excessive.
Kyphosis can cause back pain and stiffness, tenderness of the spine, and tiredness.1
Q. Do you feel there is enough understanding of this topic for both the patient community and HCP’s?
Gaucher disease comes under highly specialised services within the NHS; therefore, our community is seen at specialist UK centres across the devolved nations. There is a high level of expertise in Gaucher disease and bone disease, and its management is included in the current clinical guidelines. In addition, in 2016, the Medical Research Council awarded a grant to The National Gaucherite Project for an on-going, wide-scale observational cohort study of Gaucher disease in the UK. To find out more about The National Gaucherite Project visit: https://www.gaucher.org.uk/gaucherite
The results from this study provide an insight into the UK Gaucher community bone issues and the data to drive further research to improve diagnostics and the quality of life of individuals with Gaucher through possible new treatments and supportive care. By promoting the research findings of the study, we intend to generate more awareness, continue highlighting the importance of early diagnosis, and explore more avenues for care and management in Gaucher to share with our community.