Mumbai: Around 50 parents of children suffering from Rett Syndrome, a rare genetic disorder that affects one in 10,000 newborn girls, met senior doctors at the Narayana Health SRCC Children’s Hospital in Haji Ali on Sunday to know more about advances in treatment, including a new drug trial. While the Indian Rett Syndrome Foundation has organised nine such support group meetings in New Delhi, this was the first in Mumbai.
Rett Syndrome is a neurodevelopmental disorder that becomes evident between six to 18 months of age. It is caused by a mutation in the MECP2 gene present in the X chromosome, and predominantly affects female children. Cases of male children with Rett Syndrome are rare.
A new drug trial for children with Rett Syndrome showing severe breathing pattern abnormalities was discussed at length in Sunday’s meeting. The trials for Sarizotan have begun in the US and Europe. In India, centres in Mumbai, Kolkata, Cochin, Chennai and Delhi will carry out the trial. In Mumbai, the trials will be conducted by Jaslok and Hinduja hospitals. Dr. Anaita Hedge, a paediatric neurologist attached to Jaslok, Wadia and Narayana hospitals, said recruitment is on for the trial, and each centre will recruit five to seven children.
Often misdiagnosed
Dr. Puja Mehta, a paediatric neurologist at Narayana Health SRCC Children’s Hospital, said, “Rett syndrome is often misdiagnosed as autism, cerebral palsy or developmental delay, but there are distinguishing features that parents and experts may be able to identify, including an undersized head, hand-wringing, hyperventilating. Support group meetings help parents get up-to-date with dealing with such children and their treatment.”
The disorder has no known cure and treatment is mostly symptomatic. For example, if a child has seizures, she may be put relevant medication. Occupational therapy is a must to keep these children active. Rahul Shukla, whose younger daughter, aged five, is afflicted with Rett Syndrome, said, “Doctors can tell you about medical management of children with Rett Syndrome, but as parents, we realise they need immense attention and love.”
Mr. Shukla, a member of the Indian Rett Syndrome Foundation, had his daughter’s blood tested in Germany to confirm the disorder, and took a second opinion from Johns Hopkins Hospital in the USA. “We saw the signs when she was one-and-a-half years old. We suspected her behaviour was different from her sister’s. Now, when parents tell me about taking their children to the US for an opinion or treatment, I tell them it won’t help. Alternate days of occupation therapy and treatment for specific symptoms are the only options to enhance quality of life of children with Rett.”