Ciitizen launches SCN8A Program: Helping Patients Control Their Medical Records and Drive Research Forward
Head over to the portal to sign up here:
Being a parent to an SCN8A warrior can be overwhelming. In the rare disease world, it seems like many families have to become experts on the diagnosis, so that they can train and teach their medical teams and professionals. If you’re lucky, you end up at a healthcare institution that has maybe 3 or 4 kids with the same diagnosis, and you may have to go through several medical institutions before you get there. With advancing technology, wouldn’t it be great if that clinical data could be compiled for you, stored for review at any time, and shared easily with your physicians?
Ciitizen has a free sherpa service to help patients do exactly that!
2020 has been quite a year. I know we are all disappointed about not being able to all be together in person for our 6th Annual SCN8A Clinician, Researcher, and Family Gathering in December. However, with the help of John Schreiber, Manoj Patel, and TCSF's volunteer team, we are planning a virtual Gathering so that we can convene as a community to share our work and updates from the last year. The Gathering is tentatively scheduled for Dec 4.
The Cute Syndrome Foundation has received a fantastic impact report from Dr. John Schreiber at Children's National on his clinical research which we funded in 2019. This research focused on how to improve access to quality care for individuals with SCN8A. TCSF invests in scientific (both bench and clinical) research to better understand SCN8A generally--but, of course, that information is only as good as it's actual impact on the lives of our loved ones--better treatments, better outcomes, better quality of life!
When we decided to fund this grant to Dr. Schreiber, it came from a place of frustration that we had known some important basic information about best practices for pharmaceutical treatment for individuals with SCN8A, but that information was not always making its way to the clinicians who treat our children. So, we funded Dr. Schreiber's work to better understand why that was the case--and to advise on what could be done to change this, and quickly!
Here is the full report of his results. We are grateful for Dr. Schreiber's dedication to our SCN8A community and that we are able to fund this kind of import research!
In partnership with The Cute Syndrome Foundation, John M. Schreiber, MD from Children's National Hospital is collecting survey data from health care providers. The survey is intended to assess comfort in ordering and interpreting genetic testing and knowledge among medical professionals about SCN8A-related epilepsy, preferred treatments, and SUDEP risk. This research will help direct future education initiatives. Click the button below for access to the survey (Medical Professionals only, please).
There is a also a free informational webinar given by Dr. Schreiber geared towards clinicians that will provide an overview of genetic evaluation in patients with refractory epilepsy with particular attention to SCN8A. This is being held by Global Genes from 1-2 pm EST on Wednesday, October 2. Please click on the following button to register. The password to access the webinar, when available is TCSF2019.
This webinar will provide a brief overview of genetic evaluation in refractory epilepsy and specific examples of how a positive test may influence management. SCN8A-related epilepsy will be discussed in detail, with attention to epilepsy phenotype, diagnostic testing, associated co-morbidities including sudden unexpected death in epilepsy, and treatment.
The 2019 SCN8A Research Roundtable took place in Chapel Hill, North Carolina in July. This event brought together a select group of key SCN8A professionals for an intensive strategic planning meeting. Over a day and a half of meetings, participants focused on the state of SCN8A research, collaborate on grant efforts, and outlined next steps necessary to translate the scientific understanding of SCN8A into improved treatments and outcomes for individuals living with SCN8A. We believe the collaborative work between family advocacy groups, clinicians, researchers, and industry partners in driving research forward is key.
Pilot Research Project with Children's National: Evaluating Education and Access to Expert Care for SCN8A
The Cute Syndrome Foundation is thrilled to share the awarding of a clinical research grant, originally announced at our 2018 SCN8A Clinician, Researcher, and Family Gathering, to Dr. John Schreiber and Children's National. The vision for this grant developed after the devastating loss of two infants in our SCN8A community last fall, and we are grateful to Dr. Schreiber for working with us to look for ways to improve access to expert advice in the treatment of individuals with SCN8A.
In January 2016, as a collaborative effort with our Brazilian partners, Ajude o Rafa, The Cute Syndrome Foundation awarded $25,000 the 2016 SCN8A Epilepsy Research Grant to Dr Miriam Meisler of The University of Michigan.