Can you light up a building in teal?
It’s a favour Shalini Kedia has been requesting from almost everyone in her social circle since April this year. This peculiar demand was part of a strategy to generate awareness about a rare genetic condition known as Fragile X syndrome (FXS), which can lead to ADD, ADHD, autism and speech delays in children. The Mumbai-based healthcare activist has since been engaging in conversations, writing, and sharing information about FXS across platforms, including TV, blogs and social media. Her sole aim: encourage people to ask a crucial question, “What exactly is Fragile X syndrome?”
It is a genetic disorder that affects cognitive and developmental functions in children. It’s caused by a mutation in the FMR1 gene on the X chromosome. This gene produces a vital protein called FMRP, necessary for normal brain development. Individuals with this syndrome, however, do not produce enough or any of this protein. Characteristic behaviour associated with it includes social anxiety, self-biting, repetitive movements and poor eye contact.
Kedia, the founder and chairperson of the 20-year-old Fragile X Society India, says, “Change begins when people ask questions.” Her life’s mission revolves around motivating prospective parents to undergo a simple DNA test during pregnancy, which can prevent the occurrence of FXS. Children diagnosed with this condition require additional care, often necessitating attendance at special schools and possibly continuous assistance throughout their developmental years.
What is it like living with an individual affected by FXS? Rachana Joglekar, a 42-year-old mother with a child diagnosed with the condition, experienced immense joy when her daughter Raveena took her hand and guided her to the kitchen. This seemingly simple action held significant meaning for her, as children with Fragile X often struggle to communicate their desires due to speech delays or hyperactivity. Raveena, who possesses the full mutation of FXS and also deals with ADHD, undergoes weekly occupational, physical and speech therapy at her special school. Joglekar and countless others like her seek guidance from the Fragile X Society at various stages of their children’s lives to be able to navigate the condition.
According to the July 2023 statistics from Fragile X Society India, it is estimated that the prevalence of FXS is one in 3,600 for males and one in 4,000 for females. India is home to approximately four lakh children with the condition, a majority of whom remain undiagnosed and untreated. Around 5 per cent of individuals with Autism Spectrum Disorder also have FXS. The majority of males with the syndrome exhibit significant intellectual disabilities.
Kedia’s personal encounter with someone close to her affected by FXS, coupled with the absence of proper guidance, motivated her to initiate a support group for affected families. Reflecting on the need for a society like this, Kedia says, “Dealing with a rare condition can leave families feeling hopeless. Providing them with support, guidance and direction is crucial. That’s what I established with Fragile X Society India 20 years ago.”
On World Fragile X Awareness Day on July 22, over 15 iconic landmarks across the nation—from India Gate to Atal Sethu Bridge in Goa and the Taj Mahal Palace Hotel in Mumbai—were illuminated with teal lighting. “That’s an unusual colour. Moreover, it wasn’t a national holiday or festival. Naturally, anyone who witnessed the illuminated structures enquired about the reason behind it. This served as a catalyst for sparking curiosity, explains Kedia. Bollywood actors Boman Irani and Nilu Kohli are among the celebrities who have been supporting the cause for the last five years. They have consistently joined hands with Kedia to spread the message on social media.
The 50-year-old mother of two has so far aided more than 7,500 families across the country. The society has facilitated over 1,200 DNA tests and assisted people in over 30 cities in India and worldwide. Their website also provides a list of locations where one can undergo the diagnostic test, which costs `7,000 and typically takes about a week for results to be delivered.
Presently, Kedia is focused on advocating for the Indian government to mandate Fragile X testing in the third trimester for all IVF centres across the country. She questions, “The US has already implemented this, so why not India?” The activist is also engaging with medical professionals, parents of FXS-affected children, advocacy groups, and lawmakers to drive change at the diagnostic stage.
This year, the society’s emphasis is on empowering women to make informed medical decisions. “Why should a mother have to raise a special-needs child due to lack of awareness? When she enters an IVF clinic, should she be prepared to accept motherhood at the potential cost of having a child with special needs?” she asks, pointing out that it has been 32 years since the discovery of the FXS gene.
While there is no singular treatment for the syndrome, there are interventions that help mitigate it. Individuals with FXS who receive appropriate education, therapeutic services and medications stand the best chance of maximising their capabilities and skills.
