What is Rubinstein-Taybi Syndrome
"Rubinstein-Taybi syndrome refers to a specific pattern of physical features and developmental disabilities which occur together in a consistent fashion. Individuals with Rubinstein-Taybi syndrome have short stature, developmental delay, similar facial features, and broad thumbs and first toes. The condition was first described in 1963 by Dr. Jack Rubinstein and Dr. Hooshang Taybi who recognized this pattern in seven unrelated children. Since 1963, there have been over 400 individuals reported with the Rubinstein-Taybi syndrome. Although the exact incidence is unknown, it has been estimated that approximately 1 out of 300,000 persons has the Rubinstein-Taybi syndrome. The condition occurs with equal frequency in males and females."
From Book For Families by Dr. Cathy A. Stevens
So that is the medical, formal definition. But that definition doesn't really describe my son - he is so much more. He has a sense of humour. He has opinions about things - like what bedtime book you should read tonight. When he laughs he does so with his whole being, not just his mouth. He loves music. He loves swimming. He has a favourite song that will always cheer him up. He is curious and likes to explore how things work. He often surprises with the stuff he knows. I really enjoy his company, as do our friends and family. It is important to remember that the medical definitions and research, although very helpful, do not capture the beautiful personalities and characters of children who have RTS.
From Book For Families by Dr. Cathy A. Stevens
So that is the medical, formal definition. But that definition doesn't really describe my son - he is so much more. He has a sense of humour. He has opinions about things - like what bedtime book you should read tonight. When he laughs he does so with his whole being, not just his mouth. He loves music. He loves swimming. He has a favourite song that will always cheer him up. He is curious and likes to explore how things work. He often surprises with the stuff he knows. I really enjoy his company, as do our friends and family. It is important to remember that the medical definitions and research, although very helpful, do not capture the beautiful personalities and characters of children who have RTS.
For a loads more information about RTS visit these two websites:
http://www.rubinstein-taybi.org/
Besides having lots of information, this website has the stories of many other kids with RTS from around the world, and information on how to join an email support group for parents. Many of us subscribe to this email group and have found it very helpful.
http://www.specialfriends.org/
The Special Friends Foundation is dedicated to providing information and resources to individuals with RTS and their families
http://www.rubinstein-taybi.org/
Besides having lots of information, this website has the stories of many other kids with RTS from around the world, and information on how to join an email support group for parents. Many of us subscribe to this email group and have found it very helpful.
http://www.specialfriends.org/
The Special Friends Foundation is dedicated to providing information and resources to individuals with RTS and their families