The story of Edward
Maria was our first child. When she was born in 2008 we noticed her impressive thick black hair and short fat thumbs and joked they looked like daddies. After two years we suspected some speech delay, but it wasn’t until she was three that a geneticist confirmed the unvoiced opinion of our paediatrician that she had Rubinstein-Taybi Syndrome (RTS). Googling the condition, my heart dropped. Maria was not going to have a normal life and we, her parents, were going to have to change our expectations. With nobody in the medical. social services and educational world able to advise us on this rare condition, we joined our UK support group for RTS and attended our first meeting. There we met many people of all ages with the condition and were free to discuss it with everyone we met, in a relaxed atmosphere. I read all the journal papers I could find and quickly got up to speed on the medical, genetic, educational and social issues and latest research. But none of this helped day to day issues. This we had to learn for ourselves. Holding down two full time jobs was difficult by the time our third child was born, so we moved out of London and I gave up my job to look after the children. Maria is a happy child but is becoming more belligerent as she grows in intelligence. Although she’s chronologically seven years old, mentally she’s around three years old. Development is slow but she’s maturing and her language skills, although still basic, are becoming more sophisticated. She still can’t read or write; physically writing is still a bit difficult with here hyper-flexible thumbs. But in general she’s in good health. She needs a sachet of Movicol to handle her constipation, and she has a mild eczema since birth, which we treat with Cetruben cream. She still gags and chokes a bit when eating, but the reflux has stopped although she occasionally vomits when eating. Her genetic condition is a mutation on the CREBBP gene on chromosome 16, which causes very typical RTS symptoms. Our hope is that she will continue to develop and learn to read and write by the time she’s a teenager – largely because she has always loved to look at books. With her other siblings aged five and three, we have a good yardstick to compare Maria’s progress.