Helping families find the critical information and support they need
December 11, 2019
Report from Rare Disease Week in D.C.
March 2, 2017
2019 - The Year in Review
December 31, 2019
Multi-Disciplinary SCN8A Epilepsy Clinic Updates
August 11, 2017
Dear SCN8A friends and families,
We are pleased to openly share the emerging details for the clinic for SCN8A children being offered during the American Epilepsy Society (AES) Meeting in Washington, DC this December 2017.
BACKGROUND ON THE EVENT
Over the last several years, Wishes for Elliott has been taking a number of steps to advance the research to find answers on SCN8A. In preparation for hosting the 2nd SCN8A Scientific Meeting at AES in 2016, Wishes for Elliott worked closely with our scientific planning committee to outline possible initiatives that might help us accelerate progress. During this meeting, the 40+ SCN8A scientists in attendance agreed that one of the most important impediments to more thorough and conclusive SCN8A research was the incomplete data on the condition and experiences of our children. They also observed that this is particularly critical given the very wide variation in how our still small community of children are affected by SCN8A mutations.
One major recommendation was to facilitate family participation in the SCN8A Registry developed by Dr. Michael Hammer and hosted on his website scn8a.net. Notable progress has been made with the support provided by Alixx on Michael’s team and the leadership of TCSF on the family page. A number of families have completed the survey and even more have completed at least one module of the on-line survey. Thanks to all those who recognize the importance of this registry and making the effort to find the time to participate. However, further progress is still needed to reach Dr. Hammer’s goal of 100 completed surveys by the December 1st meeting this year.
The second recommendation to improving what is known about our children’s experience was to offer an open clinic for SCN8A children as they gathered in DC. To that end, we expanded our partnership with Dr. John Schreiber, a senior neurologist at Children’s National Medical Center (CNMC) to organize and host such an event. Dr. Schreiber has been working with a group of scientists on planning the clinic and identifying the most critical information to fill gaps in data for research. He concluded that the best way to organize the clinic would be as a RESEARCH event, which would allow the consultations to be offered at no cost to participants and with no need for insurance pre-approvals.
STATUS OF EVENTS AND PROCEDURES
The details for the event must still be approved and finalized by CNMC’s internal review board (IRB - the medical ethics panel which functions to assure complete protection of children and families’ rights in all medical research). Therefore, as of now, we only have preliminary details on the specifics of the Multi-Disciplinary SCN8A Epilepsy Clinic.
As such, all the information below is still tentative, pending approval by the IRB for the SCN8A Clinic.
TIME AND LOCATION: Friday December 1st at Children’s National Medical Center (CNMC) in Northwest, Washington D.C. Appointments could potentially continue on Saturday, depending on the scope of interest and availability of consulting specialties.
SCOPE OF CONSULTATIONS: The proposal calls for a wide variety of specialists to be available to see children and would include some testing (such as blood tests). The proposal includes a plan to review EEG and MRI data already collected, and may include standardized developmental assessments, ECG /echocardiogram, and other studies or assessments deemed important. Specialists at this point are likely to include: physical medicine and rehabilitation, development, movement disorders, speech and language pathology, epilepsy, GI, cardiology, and perhaps pulmonary and sleep medicine. The procedures are likely to allow families to be able to select with which specialists they desire consultations.
ELIGIBILITY: Once the research protocol is finalized it will be clearer what the basic eligibility factors will be. It certainly will revolve around having completed sufficient genetic testing to clearly reveal an SCN8A mutation. Being designed as a research effort, the clinic may be more likely to include children/families who live outside the US. There may also be opportunities for participation by children whom are unable to attend the clinic in person.
OFFICIAL COMMUNICATIONS WITH RESEARCH TEAM: Dr. Schreiber’s communication with families is closely restricted until the protocols are approved. Once approved, depending on the approved procedures, ALL SCN8A families will receive an e-mail invitation to participate, either from Dr. Schreiber directly or Dr. Hammer. That communication will then become the official source of information on procedures, advance data requests, and scheduling specific consultations, etc.
At any point we are happy to respond to your questions and comments on the event – which has two central objectives. They are to provide:
families expert consultations offering potentially new perspectives or recommendations to consider in the treatment of their children, and
comprehensive and more complete new data on the diverse conditions and functions of the various mutations, our children’s varied condition and development over time, and their responsiveness to treatments.
We so hope to see as many of you as possible in DC! Please let us know how we may be able to facilitate your participation in this important event! We may be able to help find home stays with friends in the area for those who have restricted funds or who prefer to stay in a private home.
We remain fully dedicated to improving the lives of all our children and hope to see many of you in December,
Elliott’s grandmother and active caregiver
Executive Director of Wishes for Elliott
You can reach us directly at wishesforElliott@gmail.com.