I look forward to the NORD Rare Summit each year. It is a time to reflect on the work all of us do in the rare disease community−whatever area we work in, be it drug development, clinical research, regulatory compliance or patient advocacy. It’s a wonderful opportunity to collaborate as a community, truly learn from one another, and most importantly return to our work with a renewed focus and passion for advancing treatments for rare disease patients, knowing that the patient is central to all our work.
This year’s Summit held in Washington D.C., Oct. 16-17, brought together hundreds of stakeholders including representatives from the FDA, NIH, orphan drug development industry, and most importantly members of patient advocacy groups.
Among the most powerful presentations of the summit was one given by Mike Porath who founded The Mighty, a digital health community created to empower and connect people facing health challenges and disabilities. The Mighty provides an open forum for people of all backgrounds to share their experiences and learn from one another. By focusing on the people rather than their conditions, Mike has helped build a community that is impacting the industry and affecting changes. Mike reminded us of the importance of amplifying the patient voice and being an advocate.
In his presentation, Mike shared a story from The Mighty about woman named Jean who, as a child, was misdiagnosed with spastic paraplegia and cerebral palsy. It wasn’t until later in life that she visited a new specialist and learned that she actually had a rare disease called dopa-responsive dystonia (DRD). When treated for it, she no longer needed the wheel chair she had been confined to for so many years. One pill completely changed the way she lived and significantly improved her quality of life. Based on her story, many others have become aware of their misdiagnoses. When Jean shared her story on The Mighty, she received messages from many others who told her that they had the same condition and had also been misdiagnosed. These patients are their own advocates and they find strength and empowerment from others in similar situations.
An Unprecedented Opportunity to Advance Care & Treatment
The summit concluded with an evening reception to celebrate the recent opening of the Children’s National Rare Disease Institute (CNRDI). The center is the first to be focused exclusively on advancing the care and treatment of children with rare and genetic diseases. Approximately 30 million Americans are currently living with a rare disease. There are an estimated 7,000 known rare diseases, many others undiagnosed, and only approximately 500 of those diseases have any treatment. Dr. Marshall Summar, Director of CNRDI, emphasized that the Institute is unique as it brings together scientists and clinicians across disciplines to develop and test new treatment options for patients with rare diseases.
The Face of Rare Diseases
For me, a highlight of the Summit was connecting with patients and patient advocates. For any direct stakeholder in rare disease research or patient care, it really is important to not only understand the patient, and their journey to diagnosis and treatment, but also to take time to listen to the caregiver’s perspective. Unfortunately, for many patients, it takes years and years to find a diagnosis. For many there is no diagnosis. We have heard the saying in medicine, “When you hear hoof beats, think HORSE, not zebra.” To a clinician, this means to look for the obvious diagnosis, not the rare one. But sometimes what we encounter is a zebra, not a horse. In this community, the zebras – or the rare – are common, but their experiences are very unique. Every patient and patient advocate I met had an incredible story, and I am proud to be an advocate for the rare disease community.
UBC’s Patient and Physician Services team works with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. We are on the ground helping alleviate trial-related patient and caregiver burden by coordinating travel to study visits through our concierge service and providing home health study visits. By working with patient advocates and utilizing social media, we are able to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials.
To learn more about our big solutions for small patient populations click here, and contact us to find out how UBC can help you do more for your rare-disease patients.
Physicians treating the rare disorders PANDAS/PANS met yesterday in London to discuss ways forward in treatment solutions for children affected by this previously unknown condition. It seems that an autoimmune response to the antibodies of these agents affects the brain causing symptoms such as obsessive-compulsive disorder, behavioral changes, rage, anorexia, bed wetting and a loss of handwriting skills. This is terrifying for both the child and their families and warrants immediate medical intervention.
PANDAS stands for Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections. PANS is a newer term which recognises the larger class of acute-onset OCD cases, Paediatric Acute-onset Neuropsychiatric Syndrome and includes all cases of abrupt onset OCD following infection, not just those associated with streptococcal infections.
Treatment options vary and may include a simple course of antibiotics to more extensive immune modulators that try to reset the immune system.
The onset of PANDAS/PANS can be so sudden that children are often reported to literally change overnight. Often when parents go to their GP, the GP has never come across anything like this before so gaining quick access to medical professionals who can help with this condition is critical.
Dr. Tim Ubhi, Paediatrician at the Children’s E-Hospital and Dr. Ming Lim, Paediatric Neurologist at Guys & St Thomas’s are two of the doctors leading the way in setting up a paediatric network to benefit other physicians. This will enable other doctors to learn more about this condition and ultimately get faster treatment for their children, he says…… ‘It’s great to see this landmark meeting happening today in London. Many doctors are seeing patients like this and require guidelines as to the best clinical treatment protocols available.’ Dr. Lim is seeing many such cases in his clinics and wants there to be access to similar services throughout the NHS in the UK.
Parents were instrumental in bringing today’s gathering to fruition. First-hand experience of the severity with which this condition can strike has driven forward family voices over the need for change. It’s hoped the children of the future will access speedier treatment going forward.
Contact: Dr. Tim Ubhi at The Children’s E-Hospital on 07967 822808 or firstname.lastname@example.org
PANDAS/PANS UK PARENTS SUPPORT GROUP – Facebook or Twitter
After the success of our London Festival in 2017, we are now raring to go once more. We will return to our hometown for the third Festival of Genomics London on the 30th & 31st January 2018.
And we've got some good news... registration is now open for you to secure your FREE Festival Pass. Register online at http://www.festivalofgenomicslondon.com/rrm using promotion code SM1
The Festival is for anyone generating, using, or studying genomic information. We have designed the show to offer insights and value for the full breadth of the genomics community – from academia, biopharma, healthcare organisations, investment firms, patient organisations and solution providers.
Our numerous stages will be packed with presentations and panels from some of the industry’s most influential figures and prestigious organisations.
In 2018 we will hone in on discussion topics such as: Cancer genomics, cardiovascular health, clinical genomics, CRISPR, drug development, enabling data, genetic counselling, immuno-oncology, implementation of genomics in the clinic, infectious diseases, patient engagement and much more.
If you’re using genomics to drive forward R&D, drug development or the diagnosis and treatment of disease then the Festival is the place to get inspired and informed.
Join us on our mission to deliver the benefits of genomics faster!
Use promotion code SM1 to register for free at http://www.festivalofgenomicslondon.com/rrm
Event Enquiries: email@example.com
September 6, 2017 (Philadelphia, PA) – VitalTrax today announced availability of Wing, a Clinical Trial Network, that gives patients, caregivers and physicians an OpenTable like experience in finding and enrolling in clinical trials. It is a first of its kind solution that is optimized for patients’ experience. Wing contains information for over 55,000 clinical trials currently enrolling giving patients a single destination.
Wing provides trial sponsors and research sites the ability to publish and promote their trials so patients can easily find them. It also gives the research sites the tools to interact with and enrol patients. By addressing the unique needs of the entire eco system – patients, research sites and sponsors – Wing creates a seamless Clinical Trial Network that facilitates enrolment and participation of patients in clinical trials.
“VitalTrax team has decades of experience in building secure and compliant solutions for the pharmaceutical industry. Wing complies with the HIPAA and FDA regulations to ensure patient’s data is secure and shared with only the healthcare providers they chose. We have worked closely with patients and patient advocates to ensure the solution is easy to use and addresses patients’ needs” said, Todd Kueny, cofounder and CTO of VitalTrax.
“Finding a clinical trial in Wing is simple and easy. It also helps to manage the application process which can be a stressful and arduous process for patients. It meets a critical need for patients today who are looking to find the right clinical trial for them” said T.J. Sharpe, a cancer survivor and patient advocate who serves on the advisory board for VitalTrax.
“Our first and foremost objective is to create a great experience for patients and for that we work closely with patients and patient advocates to design our solution. Wing meets a critical need for patients – to find and enrol in clinical trials – efficiently. It also gives research sites and sponsors the ability to easily publish and promote their trials to encourage enrolment.” said Zikria Syed, cofounder and CEO of VitalTrax.
VitalTrax volunteer and stay involved during the trial. For more information, please visit vitaltrax.net.
Zikria Syed – CEO, VitalTrax
Rick, Founder and Director of Positive Exposure (https://positiveexposure.org/) has taken images of people with albinism in several countries to help deepen awareness and understanding of the condition globally, along with using photography to raise their confidence and self-esteem. Albinism, usually characterised by white hair, pale skin and severe sight impairment, affects around 3,000 people living in the UK and Republic of Ireland.
Photo Credit Rick Guidotti
About the Albinism Fellowship
Founded in 1979, the Albinism Fellowship (www.albinism.org.uk) is a positive and sociable volunteer-run organisation that aims to provide information, advice and support for people with albinism and their families. The fellowship, which is a registered charity, also provides information about the condition to professionals working with people with albinism and other appropriate interested parties.
The vision for the Albinism Fellowship is that all people with albinism should have the opportunity to reach their full potential.
About Positive Exposure
Positive Exposure, (website: https://positiveexposure.org/) is a not-for-profit organisation that uses photography, film and narrative to transform public perceptions of people living with genetic, physical, intellectual and behavioural differences, including albinism.
Based in New York City, in the United States, its educational and advocacy programmes reach around the globe to promote a more inclusive, compassionate world where differences are celebrated.
Albinism is a comparatively rare genetically inherited group of conditions which lead to a reduction or complete lack of pigment (colour) in people’s skin, eyes and hair. This can result in pale skin which burns easily in the sun. People with albinism can also have virtually white hair, severe short sight and photophobia (a severe sensitivity to light). Around 3,000 people live with albinism in the UK and the Republic of Ireland. More information is available at: http://www.albinism.org.uk/about_albinism.php
The International Rare Diseases Research Consortium (IRDiRC) is proud to announce the new vision and goals for 2017-2027. IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years have seen considerable progress on these goals: the goal to deliver 200 new therapies was achieved in early 2017 – three years earlier than expected – and the goal for diagnostics is
within reach. These accomplishments were celebrated at the 3rd IRDiRC Conference in Paris in February 2017.
In light of this, IRDiRC initiated a year-long collaborative process to devise a new set of global rare disease goals for the upcoming decade. IRDiRC aims to accelerate progress in the short-term with three goals for the Consortium, and ambitiously push the limits of what is currently possible in the longer term with an audacious vision for the field, all with rare disease patients’ lives in mind.
The new vision: Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.
In order to work towards this bold and ambitious vision, IRDiRC has set three goals for the next decade:
1. All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently in-diagnosable individuals will enter a globally coordinated diagnostic and research pipeline.
2. 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options.
3. Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients.
The progress on the previous goals has shown that the international rare diseases research community is eager to share knowledge and experience, and work collaboratively across borders in order to bring diagnoses and therapies to patients. These new goals can only be achieved with fundamental changes to the way science is conducted, shared, and applied to the care of rare disease patients. IRDiRC members have committed to catalyze such changes and we hope that others will share and help with this commitment to action. It is time to build new bridges and raise the bar for rare diseases research worldwide.
For more detailed information on the past progress and future actions, please read three papers that have just been published by IRDiRC:
- Nature Commentary: http://www.nature.com/uidfinder/10.1038/548158c
- CTS Past Perspective: http://onlinelibrary.wiley.com/doi/10.1111/cts.12501/full
- CTS Future Perspective: http://onlinelibrary.wiley.com/doi/10.1111/cts.12500/full
To apply to become a member of IRDiRC, please see the below link: http://www.irdirc.org/about-us/become-a-member/
About the International Rare Diseases Research Consortium (IRDiRC): IRDiRC was formed to unite public and private sector funders of research, patient advocacy groups, and scientific researchers to advance rare diseases research worldwide. For more information about how IRDiRC is accelerating rare diseases research progress with the ultimate goal of improved health for people living with rare diseases worldwide, visit www.irdirc.org
Current genetic test reports are written for genetic experts to understand and then relay back to patients. We are working on creating a report that is friendlier to non-geneticists. This is so that patients and other general healthcare workers can be more involved with their medical decision-making.
We are recruiting participants to help us find out which reports, or features of reports, are good/bad so that together we can design a new one that is understandable by anyone who reads it. All that we require is your opinion and a small amount of your time.
Who we are looking for
When will we do it:
Where we will do it:
What do you get?
If you are interested in participating then please email Harry Gray (firstname.lastname@example.org) with your preference of focus group/interview/survey (if you have one) who will get in contact to arrange exact times/dates.
Alex and JuanJo are part of The Pongo Bongo, a social communication agency specialising in helping small charities.
1 in 10,000 babies are born with Stickler Syndrome, a condition that effects the entire body: joints, hearing and sight. Alex and JuanJo first heard about Stickler Syndrome in December 2014 when we were working on a campaign to raise awareness and funds for people affected by this condition
With events such as RARE DISEASE DAY doing much to raise the profile of rare diseases the team at The Pongo Bongo wanted to do their bit and take an active part in Rare Disease Day 2018. They have teamed up with unbound.com to create this special picture book for children. Through illustrated tales, they aim is to help children and adults, whether they are directly affected or not, to understand this rare disease and to improve the social experiences of those who are, by raising awareness.
A version of this picture book has already published in Spanish telling the story of Little Anton (https://vimeo.com/196412393). Through the success of this campaign they have been encouraged to bring the project to the English speaking rare community.
They have launched a crowd funding campaign to raise the funds necessary to make this project a reality. Through this picture book we aim to raise awareness in a positive and age appropriate way.
You can visit their crowdfunding campaign page to pledge your support. https://unbound.com/books/little-mia
"We are so excited to have such a strong Youth Editorial team, at the helm of our first ever youth magazine. Here, is our new Youth Editor, Rowan Wallace, setting out her vision for her tenure to this project, and letting us all know, just why this project is so important to her." Nicola Miller, Editor, Rare Revolution Magazine
My name is Rowan, and I am the first ever Youth Editor for Rare Revolution Magazine. I am interested in politics and children’s rights and am excited to use my interests and experience in giving others a voice.
I became interested because my mother and little brother suffer from familial cold autoinflammatory syndrome type 2. They are the only two with the disease in the United Kingdom.
I write as a young blogger for the Children’s Commissioner for Scotland’s website, where I write about children’s rights, rare diseases and being a young carer.
Not having age appropriate material really bothered me when I went to a parliamentary reception in the Scottish Parliament where the Minister Mark McDonald MSP was launching The State of Children’s Rights 2016. The evening was organised by Together (The Scottish Alliance for Children’s Rights). Despite it being specifically about children's rights, I was the only child in the audience, because, it wasn’t advertised to children to know the state of their rights.
When I saw the copy of the report that they had, it was a book. It was 196 pages long with 1,902 references which took up 32 pages!
Children’s rights are becoming harder to understand for children themselves because adults are not speaking to children to ask them how they want the information. As they had spent so much time and money on this document, in my opinion, some of the money should have gone to helping children understand these rights. Surely, this is the only way that children can trust that they have rights and they are being respected?
It made me very angry and I told my father it was wrong. Spending all this money researching and writing this book every year and yet had not making it accessible and readable to anyone who hadn’t gone to University, just did not make sense.
I have found that most people don’t think about children when they are writing things about children, and this can be bad because: children cannot understand the information which means that they cannot receive the information which they need in their daily lives.
This is happening more and more and I am glad that Rare Revolution Magazine want to put a stop to it. Their children’s magazine will help inform children with rare diseases, doctors who support them and the young carers of children with rare diseases to better understand the child’s view.
This magazine, will also allow children to use their creativity in writing and editing the magazine, and will teach adults that children do have the ability to write and design the magazine no matter what disease they have, because having a rare disease does not stop you being creative or having lots of great skills to help others.
Partnering - Can you help Rowan's voice be heard?
We are looking for investment and sponsorship for this innovative, first of its kind project. To discuss collaboration and funding opportunities and our highly personalises funder services please contact us now.
Contact: Rebecca Stewart
Tel: 07795 663589
Fatima Perez shares how she has channeled her energy into creating XP Grupo Luz de Esperanza (XP Light of Hope Group) helping those affected by xeroderma pigmentosum
The following story is featured within our Summer 2017 Edition (Issue 004) RARE Skin, see page 55.
For the benefit of our Spanish speaking readership, you can read the article in full below in Spanish:
¿Puedes imaginarte si tuvieras que vivir la mayoría del tiempo dentro de cuatro paredes porque los rayos ultravioleta del sol te pueden matar? Pues, esa es la realidad que me ha tocado vivir a mí y a otros con mi condición alrededor del mundo, y en especial en nuestros países Latinoamericanos.
Me gustaría compartir con ustedes un poco sobre la historia de mi vida. Mi nombre es Fátima Pérez, y soy nativa de la República Dominicana. A los seis meses de nacida, fui diagnosticada con Xerodermia Pigmentosa, (XP), una rara enfermedad genética y hereditaria que afecta la piel causada por un defecto en la habilidad del cuerpo para reparar las células del ADN dañadas por la radiación ultravioleta y algunas luces artificiales.
Debido al desconocimiento sobre Xerodermia Pigmentosa, por más de 30 años viví expuesta a los mortíferos rayos ultravioleta del sol sin protección alguna para mi piel o mis ojos. En la República Dominicana, ni siquiera los doctores podían ayudarme con mi necesidad médica. Mi única esperanza para sobrevivir era dejar mi país y venir a los Estados Unidos con una visa médica. Cuando tenía 4 años de edad, un oncólogo ignorante acerca de lo que significa la Xerodermia Pigmentosa me trató un tumor en mi hombro izquierdo, aplicándome más de 40 sesiones de radiación; negligencia la cual no solamente empeoró cada vez más mi condición, sino que también me pudo haber causado la muerte. Sabiendo que de haberme quedado en mi país, pude haber muerto en cualquier momento, y después de haber perdido la vista debido a los severos daños en mis córneas causados por los rayos ultravioleta del sol y los terribles tratamientos de radiación, luché por cinco años para llegar a los Estados Unidos. Vine a este país sintiéndome muy deprimida y muy mal física y emocionalmente. Mis mejillas estaban ulceradas, mi piel no se regeneraba y tenía ampollas de sangre en mi cara. Y lo peor de todo fue que en la República Dominicana los doctores nunca me dijeron que debido al daño causado por el sol, yo tenía cáncer de la piel en mis mejillas, brazos y piernas. Este fue otro golpe duro que recibí a mi llegada a los Estados Unidos.
A pesar de todo el dolor y sufrimiento que he tenido que enfrentar durante toda mi existencia, no he permitido que la enfermedad de Xerodermia Pigmentosa se convierta en un obstáculo en mi vida. ¡Vivo alegre, contenta, feliz y llena de vida! He superado muchos retos. He alcanzado metas que muchos pensaban serían imposibles de lograr. Hace 29 años emigre a los Estados Unidos, me atreví a coger un avión sola para venir a los Estados Unidos después de cuatro fracasos de intentar obtener una visa médica. Aprendí a escribir y hablar el idioma inglés fluidamente, y con máximo esfuerzo me convertí en Ciudadana Americana. Aprendí a usar la computadora con un programa especial llamado Jaws, a pesar de que durante mi niñez, en vez de asistir a la escuela como cualquier niño, porque debido a la enfermedad de Xerodermia Pigmentosa, pasé la mayoría de mi tiempo lidiando con médicos y hospitales. ¿Pero saben qué? En lo primero que me enfoqué a mi llegada a los Estados Unidos, fue en cómo completar mis estudios secundarios. Y el tratar de encontrar la manera de completar esta meta fue otra jornada muy difícil para mí. Pero gracias a mi determinación y persistencia, he completado exitosamente mis estudios secundarios por correspondencia. ¡Y cuando me gradué en el 2004 de la escuela Hadley para personas ciegas en Chicago Illinois, fui galardonada como la estudiante más sobresaliente del año! Y aunque me siento también muy orgullosa de haber recibido otros reconocimientos, mi gran preciado sueño ha sido el haber incorporado la fundación XP Grupo Luz de Esperanza para llevarles información, valentía y coraje a familias quienes sufren de esta devastadora y severa enfermedad.
El nacimiento de la fundación XP Grupo Luz de Esperanza, ¡Es para mí un sueño hecho realidad! Pero debo decirles que la realización de esta organización ha sido uno de mis más grandes retos. Para mí, esto ha sido una jornada muy difícil. Yo sabía que la realización de este sueño requeriría tiempo, esfuerzo, sacrificio y muchas veces fue necesario sobreponerme a las voces que me decían: “no, no, tú no puedes hacer eso, tú estás loca, tú nunca lograrás realizar ese sueño.” Cuando empecé con el proceso de incorporación de esta fundación, Algunas de mis amigas me dieron la espalda, me dijeron que yo estaba loca y que iba a terminar gastando el dinero que no tenía tratando de lograr un sueño imposible. Aun así, no me di por vencida y seguí adelante con mi meta sobre cómo incorporar una fundación sin fines de lucro. Esto no fue una tarea fácil para mí, durante este proceso, lloré, me sentí impotente, sin ayuda, sola y muy frustrada. Por más de 8 meses estuve lidiando sola con abogados sin ninguna ayuda y tenía en la mesa de mi cocina un grupo de papeles legales que me estaban volviendo loca. Pero finalmente cuando recibí la carta del Departamento de Rentas Interna (IRS) ¡con el código 501(c) (3) salté y lloré de alegría! Gracias a mi persistencia y determinación, hoy, ¡la creación de la fundación XP Grupo Luz de Esperanza es un sueño hecho realidad!
Debido a la falta de información y el tratamiento adecuado, muchas personas alrededor del mundo están muriendo innecesariamente de esta rara enfermedad de Xerodermia Pigmentosa. Ellos no saben que existen métodos efectivos para lidiar con la severidad de esta condición. Y para mí ha sido una gran tristeza saber que no existen grupos de apoyo para personas con XP en América Latina y que además de eso, la información sobre Xerodermia Pigmentosa estaba únicamente accesible para la población de habla inglesa.
Con el apoyo de voluntarios y su generosa contribución financiera, la fundación XP Grupo Luz de Esperanza provee información educacional y ayuda a sobrevivir y a mejorar la vida de niños y adultos con XP. Nuestra página web y todos nuestros materiales son bilingüe.
Mi sueño es ayudar a mejorar la calidad de vida de personas afectadas con Xerodermia Pigmentosa y sus familiares. ¡No me cabe duda que Dios me ha dejado en esta tierra para cumplir con una misión! Y esa misión es: ¡El llevarle una luz de esperanza a muchas personas con Xerodermia Pigmentosa!