The Story of Rett Syndrome

The story of Rett Syndrome began when Dr Andreas Rett noticed two girls in his waiting room of his clinic in Vienna, both wringing their hands. Dr Rett found other girls with the same symptoms and began to write about the syndrome. However, his work did not receive much attention.

The story continues with a study by three European paedatricians in Sweden, France and Spain. They listed a group of symptoms exhibited by their patients, though not all the girls had exactly the same symptoms. The way the syndrome expressed itself was curious and it was difficult to make a diagnosis until several of the girls had been examined.

After many years of descriptive analysis a breakthrough was made when a research group led by Dr Zoghbi discovered a mutation on the MeCP2 gene, revealing the cause of the strange cluster of symptoms. The international community was excited by this discovery as we hoped that in time it would lead to improved treatment and hopefully a cure. Years later we know it will take time and we must concentrate on helping each child reach their potential.

Dr Mike Sullivan, a cancer specialist from Otago University, attended the conference where Dr Zoghbi’s discovery was publicised. He later met Kathy Hunter, president of the International Rett Syndrome Association, who had visited New Zealand earlier. This prompted Mike to begin research into Rett syndrome at the Children's Cancer Research Group at Otago.

Some interesting relationships between developmental genetics and the development of tumors have been discovered by Dr Tony Raizis , Elizabeth Caygill and Sarah Abbott, working with Mike on testing New Zealand girls.

See also Gillian Deane's personal history of the beginnings of Rett Syndrome Association and Rett NZ.