Sydney Stelmaszek is Emmitt’s Mom and a member of the SynGAP Research Fund Board of Directors. On behalf of SRF, Sydney serves as the Relationship Manager with CHOP as well as being involved with patient engagement in the SYNGAP1 community. Sydney also shared her experiences and what to expect when going to CHOP in this blog.
The world of Syngap was surprised and excited to learn earlier this year that an anonymous $25 million gift had been made to the Children’s Hospital of Philadelphia (CHOP) to establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD). The two anchor disorders which the Center will first focus on treating are STXBP1 and, yes!, our own SYNGAP1. SYNGAP1-affected families have long been traveling to CHOP to receive care and advice from Dr.Helbig and his team at ENGIN, the Epilepsy and Neurogenetics Initiative.
However, ENDD will now be able to allocate substantial time and resources to collecting information from SYNGAP1 patients and families which will prepare us for clinical trials. This is especially exciting because we have promising work on treatments already taking place at the University of Pennsylvania (the educational institution associated with CHOP) with Drs. Ben Prosser and Liz Heller. You can hear a quick breakdown of all the news related to this study in episode 105 of Mike’s Syngap10 podcast.
Why the Natural History Study at CHOP is such a win for the Syngap community (and why we need our families to participate):
Why CHOP’s study is such a win for YOU and YOUR LOVED ONE:
A tremendous gift has been given to our community in the opportunity to participate in CHOP’s Natural History Study. SRF would love nothing more than to inundate their team with patients from which they can receive multiple forms of data to design a clinical trial for the therapies being developed down the road at UPenn.
See the graphic below for more information about the study. If you are interested in participating, send an email with your child’s name, date of birth, and your location to email@example.com. Please cc firstname.lastname@example.org and email@example.com.
Finally, if you desire to participate in the study but are prevented from doing so due to cost, please send an email to firstname.lastname@example.org to find out more about SRF’s ability to help. We are committed to helping families who otherwise wouldn’t be able to participate by reimbursing up to $1,000 against receipts from each trip to CHOP. Information can be found here (en español).