Vera’s Story

I am Cecilia, mother of Vera, 21 years old. Vera has an older brother, who is now studying neuroscience. We live in south of Sweden. Vera has been living in her own apartment with her assistants for one year. My body could not cope with any more sleepless nights and happily everything turned out so much better than we ever thought. We see her 3–4 times a week and she loves to be in her own place. She was tested earlier for Angelman and Rett Syndrome, but they were of course negative. I had a strange feeling that something was wrong with her already when she was a newborn, even though she had the highest apgar score when she was born. I started to see different doctors with her, but they just told me nothing was wrong, until we met a Neurologist who told us that she had Cerebral Palsy and that she would not able to walk, ever. We decided to take her to a chiropractic clinic and she made a lot of progress quickly. She could not crawl or walk when we started the treatment in July. After just a few treatments she started to crawl and she took her first steps five months later, at 3 ½ years old. Water therapy and hippo therapy have been absolutely great for her. Music is her whole life and she is going dancing and ”singing” a couple of times a month. She doesn’t talk but when she was about one year old she was saying a few words that never ever came back. Vera is a very happy individual, who laughs a lot and loves being around people. We never thought that we were going to have a diagnosis and we probably wouldn’t if it wasn’t for my father. One day when he was buying groceries he suddenly saw Vera in a wheelchair with an assistant he had never seen before. Of course it wasn’t Vera. It was Katarina, one of the two already diagnosed girls in Sweden. Katarina and her mother, Lena were on vacation in our area. Thanks to my talkative father we met Katerina and Lena at our house the day after. The two girls look very much alike, and they move and ”talk” the same way. I immediately got in contact with an genetic counselor, who had never heard about Pitt Hopkins Syndrome! A few months later we got the diagnosis of PTHS. We are very proud of our beautiful girl, so full of love.