 The long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and the very identity of people affected by a rare disease and their families. 72% of rare diseases are genetic and 70% of those genetic rare diseases start in childhood. Despite advancements in medicine and technology, it can still take an average of five years or longer before a child living with a rare disease is able to receive an accurate diagnosis.  In 2018, Takeda, Microsoft and EURORDIS-Rare Diseases Europe formed the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (“the Global Commission”) in order to bring the technology and rare disease communities together to overcome the complex barriers to a faster diagnosis. Since then, the Global Commission has been working to empower patients, families, and healthcare providers to accelerate the time to accurately diagnose a child with a rare disease by harnessing the power of technology, developing supporting policies, and driving increased awareness. The Global Commission recently gave an update about the group’s work during the 10th Annual European Conference on Rare Diseases & Orphan Products (ECRD) virtual event, outlining its progress and path forward to accelerate the time to diagnosis. During the session, speakers including Global Commission Co-Chairs Wolfram Nothaft, M.D., Chief Medical Officer at Takeda, Gregory Moore, M.D., PhD., Corporate Vice President at Microsoft Health and Yann Le Cam, Chief Executive Officer at EURORDIS, who shared the Global Commission’s vision and goals, plans for an upcoming patient empowerment campaign and updates about innovative technology health pilots the group has been advancing. Listed below are a few key updates: Since the launch of the Global Commission’s Year-One Report outlining actionable recommendations to end the diagnostic odyssey, the group has been supporting Foundation 29 in their development and testing of a digital platform called Dx29. The tool uses artificial intelligence to support frontline providers by linking disparate symptoms and expediting patient diagnosis. Test cases show that Dx29 has helped lead to a correct diagnosis 79% of the time. Now more than ever, providers are looking for innovative solutions to help them care for patients in efficient, effective ways. The second pilot, launched at Children’s National Hospital in Washington, D.C., utilizes telemedicine to enable physicians and specialists to more easily collaborate through the use of virtual tools – such as facial recognition, video visits, and a triaging system. By delivering genetic assessments and counseling remotely to patients and primary care physicians, it reduces the time and cost burden of in-person consultations for the patients who often see multiple specialists before receiving a rare disease diagnosis. A multi-channel patient empowerment and awareness campaign is being developed in close partnership with medical experts from the Global Commission and local patient organizations to increase awareness of a rare disease as a consideration among parents and/or caregivers searching for a diagnosis for their child. By leveraging multiple digital channels, the campaign drives effective conversations between parents and HCPs, and it ensures parents are reached in the right way, with the right message, at the right time. The Global Commission recognises that there have been many impactful initiatives and technologies introduced in recent years that can help to speed the diagnostic timeline for rare disease patients, and plans to collaborate with other key players. Yann Le Cam, Global Commission co-chair, commented “We benefit from the expertise of the Commission members and our collective track record of successful collaboration with multi-stakeholder partners to bring solutions to people living with a rare disease. Over the next five years, we aim to foster global collaboration and build on critical work underway to achieve greater impact in speeding up time to diagnosis. We plan to partner with other key rare disease organisations and leaders to develop new standards of practice for diagnosing rare diseases, leveraging advances in technology and genetics.” Over the next five years, we aim to foster global collaboration and build on critical work underway to achieve greater impact in speeding up time to diagnosis To learn more, you can view a brief video which provides an overview of the group’s progress to date and path forward to have a far-reaching impact – benefiting not only those living with a rare disease and their caregivers, but ultimately for all patients. A recording of the full ECRD session can also be found here. As the Global Commission considers future efforts, the group would like to learn about the areas of interest and the relevant work that other parties are progressing. If you are interested in supporting the work of the Global Commission, you can complete this form. The Global Commission will continue to take concerted action to advance its vision: A clear path to a timely, accurate diagnosis for children around the world.
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The results indicated our baby had been infected with cytomegalovirus (CMV). We had never heard of CMV before. We were told that there was no way to know how our child would be impacted. The possible outcomes ranged from mild hearing loss, to cerebral palsy, to death. We were heartbroken that our child could have permanent affects from CMV. We went through the remainder of the pregnancy without a clear idea of what to expect, and it was truly terrifying. We used that time to seek out experimental treatment and to learn more about CMV. We learned that CMV is a common virus, and most people will be infected at some point in their lives. The virus is usually harmless, but the impact can be devastating to immunocompromised individuals, as well as to babies infected before birth. Women who are infected with the virus during pregnancy can pass the virus to their unborn child, this is called congenital CMV. We learned that 1 in 200 infants are born with the virus in the United States, and 1 in 5 of those infants will have a permanent birth defect or health condition due to CMV. Ninety per cent of infants born with CMV will be asymptomatic but can develop symptoms months or years later. CMV causes approximately 400 infant deaths each year in the US. We do not screen all infants for CMV, although some states have required infants who fail their newborn hearing screening to be tested for CMV. Currently, there is no CMV vaccine. The only way to prevent CMV is through using good hygiene measures during pregnancy and while planning a pregnancy. Only nine per cent of women have heard of CMV. At the time of my pregnancy I had been a nurse for eight years, and did not realise the impact CMV can have on pregnancy. CMV is rarely discussed, and is not a standard part of prenatal education.
Pippa, Amanda's daughter pictured above in a ballerina's dress and Pippa photographed smiling above Today, our daughter is four years old. As many parents of children with disabilities can attest, Pippa is the light of our lives. CMV caused permanent brain damage in utero, resulting in many complications in her little life. She has diagnoses including: polymicrogyria (a condition where the brain develops many small folds), intellectual disability, developmental delay, epilepsy, hearing loss and more. She has trouble swallowing and has a feeding tube. She is non-verbal. Despite these challenges, she continues to be a happy and joyous child, and we are privileged to be her parents. We hope that her story can help educate pregnant women about the seriousness of CMV, and how it can be prevented. I began working for the National CMV Foundation in January of this year, as the program director. My background is in public health nursing, and this work seemed like a perfect fit for me. Our foundation’s mission is to educate women of childbearing age about congenital CMV. Our vision is to eliminate congenital CMV in the United States for the next generation. We work to accomplish these goals through awareness activities and advocacy work. June is CMV Awareness Month, and our theme this year is: CMV Speaks. We want to speak out about this important cause of birth defects. During CMV Awareness Month, I cannot help but think about all the lives that have been impacted by CMV, especially my daughter’s and my own. Pippa’s life and my life would be so different if it weren’t for this virus. Pippa should be running, jumping, and swimming. She should be telling stories about what happened at school. We must do better for future families. Despite everything going on in the world, families affected by CMV are still here. Waiting for this virus to be discussed. Waiting for funding that is proportional to the devastation CMV causes. Waiting for a vaccine. Waiting for better treatment options. And waiting for a day when the burden of this disease is no more. *Amniocentesis is a test you may be offered during pregnancy to check if your baby has a genetic or chromosomal condition, such as Down's syndrome, Edwards' syndrome or Patau's syndrome. It involves removing and testing a small sample of cells from amniotic fluid, the fluid that surrounds the unborn baby in the womb (uterus).  For more information about the National CMV Foundation and prevention tips please use the buttons below.
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Before the INPDR was developed patients with rare diseases were often told that they may never meet anyone with the same condition – now there are some amazing advocates and networks that have helped patients and their families to connect across the World.
Patient registries were often unique to a certain treatment study and exclusive to the pharmaceutical company – the INPDR breaks that mould by bringing together vital information from patients across the World and providing equitable access to the data. |
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With over 300 ASMD and NPC patient records from 13 different countries, the INPDR is attracting interest from clinicians, researchers and scientists hoping to learn and improve understanding, diagnosis and therapy for NPD patients and their families. Several more clinicians across the globe are going through the process of consenting patients so they can add to the data. Researchers and industry are exploring more ways they can use the data to learn and progress – we have a stringent Data Access Request process so we can make sure the INPDR and those who use the data within directly contribute to progress for the Niemann-Pick Disease community.
A lasting legacy
Signing up to the INPDR is an opportunity for patients and families to contribute to a legacy.
By sharing their experience of the disease, it will help to make a difference for families, the NPD community and future generations – maybe one day helping to find a cure.
Patient records are increasing but the INPDR need more people to sign up in order to harness the power of patient data.
We urge patients and their families living with Niemann-Pick Disease to speak to their clinicians and let them know they would like their data added to the Registry.
Their clinician can get in touch with us directly for support with the R&D process and relevant paperwork to ensure their patients can provide their informed consent. Patients and their families can also sign up themselves through our new website www.inpdr.org to share their experiences of living with the disease.
We urge patients and their families living with Niemann-Pick Disease to speak to their clinicians and let them know they would like their data added to the Registry.
Their clinician can get in touch with us directly for support with the R&D process and relevant paperwork to ensure their patients can provide their informed consent. Patients and their families can also sign up themselves through our new website www.inpdr.org to share their experiences of living with the disease.
The patients’ point of view is absolutely paramount in making sure the INPDR can support earlier diagnosis and better treatment.
We already know what a difference a strong community and network can make to the experience of living with a rare disease. We are surrounded by positive stories of special achievements (big and small), as well as genuine understanding and support during the hard times.
More information about Niemann-Pick Disease
Niemann-Pick Diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults. The INPDR empowers Niemann-Pick Disease patients and their families by giving the opportunity for their vital patient data to redefine the future of the condition.
Niemann-Pick Disease in all its forms is incredibly rare:
Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NP-A) and type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.
Niemann-Pick Disease Type C (NP-C) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.
Niemann-Pick Disease in all its forms is incredibly rare:
Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NP-A) and type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.
Niemann-Pick Disease Type C (NP-C) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.
There is useful information about the INPDR and how you can sign up to either the Clinician Reported Database and/or the Patient Reported Database on our new website or you can connect with us on our Facebook, Twitter and LinkedIn.
We also have a hard-working team behind the scenes ready to guide you through the process of signing up, answer questions you might have and share our work with the rare disease community. You can contact them through the website or by emailing using the buttons below.
We also have a hard-working team behind the scenes ready to guide you through the process of signing up, answer questions you might have and share our work with the rare disease community. You can contact them through the website or by emailing using the buttons below.
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Holding a national and international Nystagmus Awareness Day serves as a reminder to everyone that the Nystagmus community is here and their voices need to be heard.” |
The Nystagmus Network raises awareness of the condition every single day of the year, because they believe that the more people who know about it the better. It means that adults and children who have nystagmus will get the help, support and services they need in education, employment, health, mobility and leisure to be able to lead a successful and independent life. Nystagmus is a serious, lifelong, incurable form of visual impairment where the eyes constantly move uncontrollably, affecting focus and depth perception.
At least 1 in 1,000 babies are born with nystagmus. Many other people acquire nystagmus beyond infancy and into later life. It’s national and international Nystagmus Awareness Day on Saturday 20 June 2020. We may all be staying at home this year, but we can still mark the day and raise awareness to ensure that the 1 in 1,000 adults and children living with nystagmus enjoys a greater understanding of their condition and a better quality of life as a result. Here are just some of the ways people can get involved.
At least 1 in 1,000 babies are born with nystagmus. Many other people acquire nystagmus beyond infancy and into later life. It’s national and international Nystagmus Awareness Day on Saturday 20 June 2020. We may all be staying at home this year, but we can still mark the day and raise awareness to ensure that the 1 in 1,000 adults and children living with nystagmus enjoys a greater understanding of their condition and a better quality of life as a result. Here are just some of the ways people can get involved.
How amazing are you?
In the lead up to the big day, the charity is running its how amazing are you? campaign, sharing stories of adults and children who have achieved great things despite living with nystagmus, or maybe even because they do. These stories bring a great deal of hope and comfort to families where there is a new diagnosis of nystagmus. Anyone who has nystagmus can submit their story.
The Nystagmus Network want to raise as much awareness of nystagmus as possible this year and make sure that everyone has a chance to take part, so are running a wobbly photography competition: The View From My Window. They know that lots of people who have nystagmus are also keen photographers. Most notably, of course, is internationally acclaimed photographer, David Katz. David revealed only in recent years, in his film Through my Lenses that he has ocular albinism and nystagmus and is actually registered blind. Nevertheless he has enjoyed a stellar career in photography and has created some of the most iconic press images. David was delighted and honoured when the charity asked him to judge the competition.
I would be absolutely delighted and very honoured to judge the Nystagmus Network competition … It has constantly amazed me since making my story public how many of us with VI are into photography.”
David Katz, photographer
Whether you have nystagmus or not, whether you have the latest camera or just a phone, and wherever you are in the world, you can take part.
The charity launches a brand new publication, Nystagmus is …, inspired by 80 year old Roger, on Nystagmus Awareness Day 2020. The booklet is full of contributions from people, like Roger, who live with nystagmus, describing how they feel about it and how it affects their lives. For the first time people can read what it’s really like to have nystagmus by the people who really know. Nystagmus is … will be available FREE from the charity’s online shop from 20 June 2020.
Every time someone takes part in Nystagmus Awareness Day or tells someone what they’re doing and why, that’s one more person who understands what nystagmus is. Every pound raised or donated helps the Nystagmus Network support research teams across the UK to investigate this hugely complex condition, to find better diagnosis, treatments and continue to work towards prevention and cure.
Every time someone takes part in Nystagmus Awareness Day or tells someone what they’re doing and why, that’s one more person who understands what nystagmus is. Every pound raised or donated helps the Nystagmus Network support research teams across the UK to investigate this hugely complex condition, to find better diagnosis, treatments and continue to work towards prevention and cure.
You can find out more about The Nystagmus Network on their YouTube channel: www.youtube.com/channel/UCRRCkrzGCin-4o2t_W8Ivvw
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About The Nystagmus Network
The Nystagmus Network is a registered charity in England and Wales, number 1180450. Our charitable objectives are to provide support and information, to raise awareness and to fund research. For more information contact Sue Ricketts at Nystagmus Network below.
The arrival of a new baby in the family is a joyful occasion, but when parents find their child has albinism, this can prompt many questions and even concerns. Children with albinism are visually impaired and very sensitive to the sun meaning they need extra care.
Roselle Potts, Chair of the Albinism Fellowship
While the birth of a new baby is an occasion to celebrate, parents of children born with albinism often find that support for children with this rare genetic condition is hard to access. To mark International Albinism Awareness Day* on June 13th, the Albinism Fellowship has stepped in with a new Baby Box scheme. This is available for all families who have a child with albinism who is under a year old and who become paid up members of the charity for the sum of £20 per year. The charity has obtained grant funding for this project and the items in the baby box .
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As the only charity in the UK and Republic of Ireland for people with albinism, we have around 40 years’ experience in helping mums and dads of young children with albinism.
Roselle Potts
From the 13th June, mums and dads will receive an Albinism Fellowship baby box as part of their membership. This contains items to help parents meet the specific needs of their young child; sunglasses, a factor 50 SPF sun protection hat, sun cream samples, a high contrast book and sensory toy as well as the Fellowship's Understanding Albinism booklet. Roselle Potts, Chair of the Albinism Fellowship expresses, “The baby box is an exciting new initiative which we are sure will be welcomed by new parents of children with albinism. When we chose which items to include in our baby box we looked at the most common queries raised by new parents. They often ask us questions about how to protect children from the sun and how to best stimulate their babies’ sight, as children with albinism live with high degrees of visual impairment.”
Rachel Whyte, received the first baby box for her son ( pictured with his book and glasses)
The baby box from the Albinism Fellowship was a gratefully received addition to the support they have already given my family. Having something in my hands meant I could use the helpful advice without having to worry about sourcing the right items. It gave me ideas of the right creams and hats to use and my son loved the easy grip brightly coloured balls. Thank you so much, we love it!
Rachel Whyte
About International Albinism Awareness Day*
International Albinism Awareness Day is marked every year on June 13th to celebrate the human rights of people with albinism around the world. It is marked with specific events in various countries, social media activity and campaigns. The United Nations General Assembly proclaimed June 13th as this specific day with a resolution it adopted in 2014.
About the Albinism Fellowship
For more information about the Albinism Fellowship, which provides help and support to children, their parents and adults with albinism in the UK and Republic of Ireland and information about the Albinism Fellowship Baby Box Scheme, or for interview and photo requests.
Please contact Roselle Potts at the Albinism Fellowship using the buttons below.
Volunteers' Week takes place 1-7 June every year and is an opportunity to celebrate volunteering in all its diversity. Unable to hold a big event to mark the occasion, the charity prepared and sent personalised thank you certificates and words of thanks from the entire team. Local children’s charity Charlie House today (Monday 1st June) joined charities across the UK by participating in Volunteers’ Week to thank its volunteers for giving the gift of time. Joan Cowie, Volunteer and information co-ordinator says ''In the last year, we have been so grateful for every minute our fabulous volunteers have given to Charlie House. Due to the current restrictions we have been unable to hold a big event to thank everyone who has helped us over the last year but we couldn’t let the occasion pass without thanking everyone for their incredible contribution.''
Over the last year volunteers have got involved in so many ways - at our children and family activities, at our fundraising events, in our ReCHarge cafe in Bon Accord, in our office, wrapping prizes and gifts, and, of course, stepping into our mascot, Charlie Dog, paws! Our corporate supporters have given their time too - helping us to raise vital funds and awareness.
Joan Cowie
| Joan continues, “During lockdown, although our face to face activities have stopped our volunteers have been busy fundraising and offering quiet support with essential projects to allow us to continue operating. Fundraising has been incredibly challenging over the last few months and we have been blown away by the ingenuity and generosity of our supporters from individuals walking backwards to businesses who have donated a percentage of profits from online events to us. The current situation has forced us review how we best use our volunteers’ skills and experience - there are still plenty of opportunities to get involved and support us, we just need to be more creative and are always open to any ideas from our volunteers.” |  Mascot Charlie Dog shows his thanks to Charlie House volunteers on the first day of Volunteers’ Week 2020. |
Local volunteer Lynne Reid, of Newtonhill, says “It means a lot to me to be a small part of this network and to be doing something meaningful for so many people. I usually volunteer at ReCHarge Café one day per week, which I am missing due to the current temporary closure, and I also do other things for Charlie House on occasion. I enjoy chatting to new customers and telling them what their money will go towards and support and I also enjoy welcoming a Charlie House family into the café from time to time. It's lovely when someone comes in and says they know of someone who is supported by Charlie House and they have come in specifically to support the café.
I love wearing my volunteering hat for Charlie House and have been involved with Charlie House for a number of years. I have heard a number of Charlie House parents speak about how their lives have changed when their children have been born with varying degrees of additional support needs and also how their lives have changed again when they have found the support network in Charlie House.
Lynne Reid - Local volunteer
When I am in the Charlie House office, I am always amazed by the hard work and dedication of the team. They are always rushing off to speak to an organisation or a school or arrange some activity and support some families. Volunteers can help in so many ways at Charlie House and there is something for everyone to get involved with. Whether you can manage term-time, weekends or evenings you are made to feel valued. I'm proud to be a part of the Charlie House team.”
In the North-east of Scotland alone there are more than 1,600 babies, children and young people with complex disabilities and life-limiting conditions. Alongside running ongoing activities and services, Charlie House is undertaking an £8million appeal for a specialist support centre to be built on the grounds of Woodend Hospital offering families dedicated support and local respite facilities.
In the North-east of Scotland alone there are more than 1,600 babies, children and young people with complex disabilities and life-limiting conditions. Alongside running ongoing activities and services, Charlie House is undertaking an £8million appeal for a specialist support centre to be built on the grounds of Woodend Hospital offering families dedicated support and local respite facilities.
'Our dream is to have a purpose-built support centre right here in Aberdeen'
Charlie House is a local children's charity which supports babies, children and young people with complex disabilities and life-limiting conditions in the North-east of Scotland, and their families. Established in 2011, our current services include activity clubs, sibling’s clubs, support from our very own Charlie House Community Nurse, one-to-one emotional and practical support from our Children & Family Support Manager and our annual adventure trip to Kielder Forest Park, run by Calvert Trust.
Find out how you can get involved and for further information contact Charlie House using the buttons below.
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