Diagnosis Angelman Syndrom:
- Angelman syndrome is a genetic defect on the 15th chromosome
- Consequences are u.a. mental and motor developmental disorders, cognitive disability, hyperactivity and greatly reduced to no spoken language. Almost all Angelman children develop treatment-requiring epilepsy.
- Those affected have a normal life expectancy but will always need help from others.
The Angelman Association helps parents with Angelman children to better understand the diagnosis, to accept it and to reshape everyday life with a "Angel". Experience, a sense of belonging and empathy create an environment in which each member can find answers to their individual questions. Founded in 1993, the Angelman Club is a community of parents for parents.
The goal is to raise awareness of this rare neurological disease and its associated problems. As with many rare diseases, Angelman syndrome is not only a simple diagnosis, but also the need for parents and caregivers to adapt to changing situations to help people with this syndrome continue into old age.
The next big project is the construction of two Angelman Centers in Germany. For the first time, affected persons should be given the opportunity to be advised by specialists and treated symptomatically. Here also studies on the causal treatment by means of gene therapy should be coordinated.