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.
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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:
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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
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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.
For more information and support around CDG please go to:
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”.
To find out more about the organisations mentioned in this article please go to:
For more information and support around CDG please go to:
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.
For more information and to take part in the CDG global patient registry go to:
For more information and support around CDG go to:
To continue learning about CDG and patient support you can read the following articles in this Digital Spotlight here:
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.”
For more information about the Frontiers in Congenital Disorders of Glycosylation (FCDGC) please go to:
For more information and support around CDG please go to:
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 email@example.com 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.
Rare Revolution Editor