HYDERABAD: Given the worldwide ratio of around one in 500 individuals being affected by Fragile X Syndrome, it is safe to say 25,000 in Hyderabad could be suffering the condition. So many of us haven’t heard about Fragile X. But Shalini Kedia, Chairperson of Fragile X Society- India, tells us that it is time we discuss this condition and take concrete solutions to help those suffering from it.
Fragile X Syndrome (FXS) is the most common inherited, single gene cause of intellectual disability and autism worldwide. FXS can cause intellectual disabilities, attention deficit and hyperactivity, autism, autistic features, speech delay. Seizures affect about 25% of people with FXS. It is a genetically-defined inherited condition that can be diagnosed by a DNA blood test.
“We are the only organisation working for this cause in India. It is estimated that in India we have approximately two lakh children with FXS, most of whom are undiagnosed and untreated. There are also millions of carriers of the genetic premutation who are at risk for one of the other Fragile X-associated Disorders.” Talking about the work that has been going on, Shalini informs, “July 22 is Fragile X Awareness Day.
We sent out messages to 76,000 IVF specialists via the federation talking about the connection between infertility and Fragile x.” So what’s the best way to create awareness about the condition? “We need to get media, medical journals and eminent people to talk about it and create awareness. More families sharing their stories,” says Shalini.
“Bloggers are people who get heard and hence their support will make a huge difference. Every common person can support us by just talking about it and joining our endeavours,” she adds. What is the most latest and positive news you have heard about Fragile X treatment? “Many drug trials are going on and while they do sound promising, I like to speak less about it.” She says that families get so swayed with any new exciting development that at times they stop focusing on what’s in hand.
Medical trials go through phases and then approvals and then will be accessible to us here in India. We need to give it enough time to see the reactions and side-effects before getting excited. The therapies have evolved and those are very encouraging pieces of information. Today with telemedicine we have assessed to the world’s best teams sitting right here at home. That’s a huge step forward,” she adds.
More light on Fragile X
Fragile X can pass silently through generations until a someone in the family is affected
A DNA blood test is more than 99% accurate for diagnosing FXS.
“Fragile X Society - India was conceptualised in the year 2003. Their primary goal was to be a support group for families affected providing them with accurate information. Now, hey support and counsel over 650 affected families
Fragile X Syndrome (FXS) is the most common inherited, single gene cause of intellectual disability and autism worldwide.
FXS can cause intellectual disabilities, attention deficit and hyperactivity, autism and speech delay.
Seizures affect about 25% of people with FXS. It is a genetically-defined inherited condition that can be diagnosed by a DNA blood test.
There are various organisations all over the world working towards creating awareness on Fragile X and related disorders.
All children diagnosed with intellectual disability/autism should be tested for the medical condition called Fragile X syndrome.
Every child affected with Fragile X Syndrome should receive the latest research and evidence based treatments.
— Manju Latha Kalanidhi email@example.com @mkalanidhi