With the generous support of Ovid Pharmaceuticals, TOM had the honor of hosting a miniMakeathon at Exponential Medicine. Makers from around the world descended on San Diego to develop open-source solutions with Stacy McCarrell Ruddick, mother of three children with Angelman Syndrome. The conference was a tremendous opportunity to raise awareness about TOM, Angelman Syndrome, and to discuss solutions with the world's leading innovators of healthtech. The resulting solutions from the makeathon have already benifited other children experiencing similar challenges.
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.
Stacy's three children were all born with Angelman Syndrome. Olivia (11), Harrison (9), and Denise (7) are happy, outgoing children. They are all nonverbal and use communication devices to communicate, they are treated for seizures, and have a heightened sensitivity to different materials.
Stacy shared a few of her challenges:
- From experience she can usually tell if one of her children is about to experience a seizure, but she doesn't have a way to detect seizures. Current products on the market include wristbands, but her children won't wear them.
Stacy's children have challenges with fine motor skills and it can make using their iPad based communication devices challenges.
All three children go to schools with emphasis on mainstreamed education. Using pens and markers can be challenging as a result of challenges with fine motor skills and the material of the writing utensils.
- Child gates are made for small children. Stacy keeps dangerous objects in her kitchen, but as her children grow, her child gate no longer keeps them out of danger.
Makers of all background met with Stacy at her home - the dream team was made up of Ilan Sherman, Jonathan Asher, Matan Ninio, Guy Sheffer, Hagit Alon, Yoav Argov, Oded Shorer, Bo Pollet, Matthew Leong Chun, Dexter Ang, David Cipoletta, Sarayah Moore, and Gal Friedman.