How is life with the Angelman?
Angelman Syndrome
This disease is caused by the loss of a small section of the 15th chromosome. It is diagnosed between the ages of 6 and 12 months. In the Czech Republic, approximately 100 patients are registered. The disease can only be diagnosed through DNA analysis, which means children may have previously been classified under cerebral palsy. The syndrome used to be colloquially called „happy puppet“ because patients have a smiley face and coordination disorders.
Symptoms:
- Delayed psychomotor development.
- Subsequent development is very slow.
- Speech disorder (non-verbal).
- Autistic behavior.
- Coordination disorders of both gross and fine motor skills.
- Laughter episodes.
- Epilepsy.
Alex – 22 years old, Angelman Syndrome, lives in Paris, France; answered by his mother Lara
Alex is a smiling, positive, and loving young man. He’s very courageous, stubborn, and innocent. Living with Alex makes you a better person: more open, tolerant, patient, and focused on what matters most. When you meet Alex in an elevator, on the street, or in a supermarket, please talk to him as you would anyone else. Alex understands more than he can express. He’ll gladly greet you, and his companion will „translate“ his signs or symbols for you. Please, don’t ignore him: he isn’t invisible just because he has a disability! He may be non-verbal, but he’s not „non-thinking.“
Josef (25 years old), Angelman Syndrome (AS); answered by his mother Stáňa, co-founder of the patient organization Angelman.CZ
Our little angels don’t realize the disadvantages of their condition – that’s more for the caregivers. My only wish was for Pepa to be healthy.
In the summer of 2021, I broke my ankle badly and couldn’t care for Pepa. I encountered a terrible system. A crisis bed needed to be reported three months in advance. Eventually, a place was found almost sixty kilometers from us, in an old large institution. But they prepared a separate room for Pepa, and according to his current behavior, he’s content there. For the first two months, I couldn’t even call. Every time I introduced myself on the phone, I started crying. I spent the first few months falling asleep in tears, constantly thinking about Pepa.
Thankfully, he was okay, even making progress, cleaning up after himself, and allowing himself to be shaved and trimmed.He learned to function independently. When I talked to his primary worker, she knew things about him we hadn’t even told them. While Pepa is far away, he’s at ease. I realized it’s not about distance or old furniture but how they treat him. And most importantly, that he’s happy.
Not a day goes by that I don’t think about him, but I need to be rational. The first year was tough for me, but the second was better. I realized I could go to the movies whenever I wanted, without having to arrange for his care. I allowed myself to think more about my needs. But he’s still our biggest sweetheart.
