The story of Ashley N Weinberg
My son Conner was diagnosed with Angelman Syndrome UPD in July of 2020, UPD is a genetic phenomenon, he recieved 2 copies of chromosome 15 from his Dad and none from me. Of those diagnosed with Angelman Syndrome, only 3 to 5% are diagnosed with UPD. It took us 5 years to get a diagnosis, and also took 2 genetic tests to get definitive results. Conner has always been a very happy boy even with the daily struggles. Conner also has epilepsy which is very common among AS individuals. We actually had an epilepsy diagnosis before we had the Angelman Diagnosis. Conner went undiagnosed for so long because his doctors saw continued progress in most areas other than speech, we were told he would possibly grow out of these delays. 5 years later we still heard no words. He was still having mobility issues, sleep issues, he has severe anxiety, both fine and gross motor skills were and still are delayed. Conner has learned to communicate using body language and some sign language, and we are working on an AAC device in therapy. He has a rigorous therapy schedule and he does it all with a smile. Conner literally has brightened our world and those around him. He has brought so many people into our lives that have changed it for the better. Although there are moments where we feel lost and like we can’t go on, Conner brings us back with his determination and strength. He never gives up, no matter the obstacles in his way. He is my strength, he is my determination. I will never give up because he continues to fight every single day with a big smile on his face.