Making the RARE voice heard
Register for the International Network of Paediatric Surveillance Units 10th biennial conference 2018
The International Network of Paediatric Surveillance Units (INOPSU) is due to hold its 10th scientific conference in Glasgow, Scotland at the SEC Centre on Tuesday 13th March 2018. The conference will be held as a satellite session of the Royal College of Paediatrics and Child Health annual meeting.
The conference will explore paediatric rare disease surveillance and its global impact on public health and clinical practice.
Cutting edge scientific data will be presented from world leading clinicians, scientists and policy-makers. Presentations will consider the central role paediatric surveillance has played in addressing infectious diseases and other conditions. Presentations will consider variant CJD; the primacy of international collaborations on understanding the natural history of rare diseases; the continued importance of monitoring emerging and re-emerging diseases such as E. coli. O157; and more!
Places are limited so make sure you reserve your place.
A key note speach will be received from Professor Rob Will, Director of the National CJD Surveillance Unit.
Presentations will also be received from, Dr Alison Smith-Palmer, Health Protection Scotland; Dr Chris Verity, Addenbrookes Hospital; Dr Michael Flavin, Queen’s University, Canada; Professor Yvonne Zurynski, Australian Paediatric Surveillance Unit and Dr Mirjam Mäusezahl-Feuz, Chair of INOPSU amongst others.
Neonatal meningitis; Group b strep; UK vaccination programme; Kawasaki disease; sepsis; E.coli; type 2 diabetes; rickets; FGM and others.
Dr Richard Reading, Chair, BPSU Scientific Committee
BPSU, Royal College of Paediatrics and Child Health, 5-11 Theobalds Road, London, WC1X 8SH
Tel. +44 (0) 20 7092 6174
Dr Mirjam Mäusezahl-Feuz, Chair of INOPSU
Eidgenössisches Departement des Innern EDI Bundesamt für Gesundheit BAG Abteilung Übertragbare Krankheiten
Schwarztorstrasse 96, CH-3003 Bern
Tel. +41 058 463 8758
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 email@example.com
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: firstname.lastname@example.org
Rare Revolution Editor