Families and Researchers, Center for Autism and the Developing Brain, July 2018
With gifts from the Simons Variantion in Individuals Project & Kiwanis Club of Parkchester, the YBRP was able to organize the first of its kind Family Meeting, joining families, clinicians and researchers who all feel connected to learning more and sharing what is already known about the rare HNRNPH2 mutations. It was held on the NY Presbyterian Campus at the Center for Autism and the Developing Brain, who so generously donated the space for our conference.
Parents and children touched by an HNRNPH2 mutation met for the very first time. These were extraordinarily powerful and emotional moments. Deep bonds were made, strengthening our shared vision to help our children!
A review of what is currently known about the HNRNPH2 condition based on the families who are participating in research through Simons VIP was given by trusted scientific advisor, Dr. Wendy Chung.
Information and direction were given by Chris Adams, CEO of CYDAN, an orphan drug accelerator company we’ve connected to, that deepened our conviction to identify more with the diagnosis. 300 is the MAGIC NUMBER!
Descriptions and explanations were given in regard to in depth studies of the condition by scientists, Dr. Kim and Dr. Korff, from St. Jude Children’s Research Hospital.
Parents volunteered to speak on camera for the SPARK organization, to describe the value they have found in pursuing genetic testing and receiving final diagnosis. We hope this helps us identify more HNRNPH2 variants.
Discussions about how to best advocate for our children in educational settings and the importance of caring for the caregiver empowered parents to be the best they can be.
Dr. Jennifer Bain’s Natural History Study of HNRNPH2 commenced and a battery of tests were given to our children by cheerful, sensitive and professional evaluators that will result in many scientific publications in the not so far off future.
We are so proud of what was accomplished at the Family Meeting. We are filled with gratitude to everyone who participated, including families, speakers, researchers, music therapists, volunteers – EVERYONE who played a role in making the event such a success.
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HNRNPH2 Family Meeting 2018 – Highlights:
Pictures courtesy of the Yellow Brick Road Project (YBRP).