What Is Angelman Syndrome?
People living with AS have a genetic difference on chromosome 15. People with these chromosomal changes do not produce any, or remotely enough, of something called UBE3A—which is a protein that helps us walk, talk and perform many other everyday tasks.
As a result, children and adults with AS typically have balance issues, motor impairment and can have debilitating seizures. Disruptive sleep is often a serious challenge. Some never walk. Most do not speak. Individuals with AS have a normal life expectancy, but require continuous care and are unable to live independently.
This is life today for people living with Angelman syndrome.
But it won’t be for long.
Scientists believe that AS is now the neurogenetic disorder with the greatest potential to be cured. FAST is the reason why, and the force making it happen.
Ready to know more about Angelman syndrome? You can start with the basics here.
For more about FAST, head on over here.