"I am aware of Fragile X Syndrome (FXS). Are you?" asks a woman in a black and white photograph, making an X symbol with her hands. Powerful imagery, indeed.
"The need of the hour is such impactful communication. 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," says Shalini Kedia, Chairperson of Fragile X Society – India, the only organisation working for this cause in the country.
FXS is the most common inherited, single-gene cause of intellectual disability and autism worldwide. It can cause intellectual disabilities, attention deficit and hyperactivity, autism, autistic features, speech delay etc. Seizures affect about 25 percent people with FXS.
It is a genetically defined inherited condition that can be diagnosed by a DNA blood test. About four lakh children in India alone are affected by this condition. About the work that has been going on, Kedia says, "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 Kedia.
The society recently roped in Bollywood actor Boman Irani to talk about it in a video. Getting the Taj Mahal Tower, Mumbai, illuminated in green on July 22, 2019, was among their big milestones in spreading awareness about the disease. "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 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." Kedia says 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 that's very encouraging. Today with telemedicine we have assessed the best teams sitting right here at home. That’s a huge step forward," she adds.
More light on the condition
Fragile X Syndrome (FXS) can pass silently through generations until someone in the family is affected
A DNA blood test is more than 99 percent accurate for diagnosing it
FXS is the most common inherited, single-gene cause of intellectual disability and autism worldwide
It can cause intellectual disabilities, attention deficit and hyperactivity, autism and speech delay. Seizures affect about 25 percent of people with FXS. It is a genetically-defined inherited condition.
All children diagnosed with intellectual disability/autism should be tested for FXS
Fragile X Society India was conceptualised in 2003. Their primary goal was to be a support group for families affected providing them with accurate information. Now, they support and counsel over 650 affected families.
There are various organisations all over the world working towards creating awareness on Fragile X and related disorders.