SGS Foundation Founder and Chair of Trustees
My daughter Ophelia was born in 2011 after an uneventful pregnancy and birth. However she suffered a respiratory arrest just minutes after birth and spent several weeks in a neonatal intensive care unit at a central London teaching hospital, baffling all the specialist doctors as to what was wrong with her. Once she was well enough to come home, life was a constant roller coaster of emotions, hospital visits and tests. Ophelia developed seizures at the age of 9 months old and it was this that led to her being diagnosed with Schinzel-Giedion Syndrome by a clinical geneticist who had trained with Professor Albert Schinzel (who first described the condition in in 1978). What are the chances of that!
Ophelia is our only child. She is now 9 years old and lives with myself and her father (and our 2 dogs and a cat) in West Sussex, UK. She continues to have daily seizures as well as suffering from many of the typical Schinzel-Giedion Syndrome symptoms such as severe neurodevelopmental delay, bladder problems and feeding problems. However, she is a wonderful, happy, sociable little girl who loves spending time with family and friends, enjoys going to school and loves nothing better than swimming and warm baths! She truly loves life and she is our daily inspiration.
I have been a practicing veterinary surgeon for over 20 years and have been involved in both clinical practice and in clinical research studies. I understand the need to practice evidence-based medicine founded on scientifically rigorous studies, but as a parent of a child with a severe life-limiting genetic condition, I also understand the desperation of parents to have research move more quickly from the laboratory to the clinic, where it can have a meaningful quality-of-life impact on our children. This was the driving force that led to the decision to establish The Schinzel-Giedion Syndrome Foundation in 2019 and I have been extremely fortunate to have been joined by such wonderful fellow parent Trustees in this endeavour.
As a new rare-disease organisation, with an important role of being the only charity representing the international Schinzel-Giedion Syndrome community, we have developed a well-defined strategic research plan with help from our Scientific and Medical Advisory Board, to ensure that we achieve our goal of accelerating the development of effective therapies for our amazing children.
Posted by COMBINEDBrain – Outcome Measures and Biomarkers for Neurodevelopmental on Saturday, July 11, 2020
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