The FamilieSCN2a Foundation has established an international database of therapists working with children who are diagnosed with SCN2a.
SCN2a: Finding our Way
SCN2a is a genetic link to rare forms of epilepsy and autism. OTC is working to bridge the gap between research and the real life struggles of children and families living with SCN2a. SCN2a is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay. (Sanders et. al, 2015). Occupational Therapy Consulting is working with The FamilieSCN2a Foundation to establish an international database of therapists working with children who are diagnosed with SCN2a. For more information on the FamilieSCN2a Foundation, please visit SCN2a.org.
A Database to Connect Therapists
By establishing an international database of OTs working with SCN2a children, we can begin to define parameters of best practices to ultimately measure effectiveness of therapy and determine multiple ways of supporting children diagnosed with SCN2a. With the scope of data available through therapy sessions, OTs also have the capacity to inform lab research, and to make a real difference not only in the research but in the lives of children and families living with the daily reality of SCN2a.
If your child is working with or has worked with an OT, your therapist can help you fill out the SCN2a form. If you have worked with an OT in the past OT but are no longer in contact, please complete the form with the therapist’s name and any prior contact information you have, and we may be able to locate them.
Medical Database via FamilieSCN2a
The FamilieSCN2a Foundation also has a database, in partnership with Simons VIP, to assist them in collecting clinical, developmental and other medical information to be made available to interested researchers. Families who register play an active role in helping to find a cure. Registration information for that project can be found here.
Video Presentation from the FamilieSCN2a Foundation Conference, 2017
The following videos were compiled as part of a presentation by Kelly Beins, OTR/L. Kelly presented “OT & SCN2a: Finding our Way” at the “Families SCN2a Foundation Conference” July 14-15, 2017 held at Nemours/Alfred I duPont, Children’s Hospital in Wilmington, DE. These videos highlight many significant gains made by these two young boys, over the course of their OT treatment thus far and what OT can look like for children who have SCN2a. OT may serve as a bridge and source of hope between the genetic research and quest for a cure that is currently taking place and the real life struggles that children with SCN2a and their families face. OTC is grateful to the parents and families of Ben and Mark for encouraging us to share our work and for allowing us to accompany them on their journey.