“What we all really need, apart from food to fill our bellies and a roof over our heads is unconditional love, affection and most important of all, acceptance. And that is just about everything a child with Fragile X Syndrome hopes for. Fragile X is the one of the most common causes of intellectual disability related delayed developmental autism.
I have been working closely with the FX Society for almost two decades now and Shalini ma’am, the Chairperson and Founder of Fragile X India has been the driving force in raising awareness for children with FX across the country.
The first patient that I ever had the chance to see was during my residency days, except, back then not a lot of people knew about FX. But as the years have passed, we have started seeing more patient with fragile x mostly because we know what to look for now.
Us as doctors, we can separate the sentiments from the science but it is harder for the parents to accept it because there is no evidence of cure even with pharmacological intervention- and that leads to the stigma that we face in the society. But what is not conveyed to the parents is that inspite of not having a specific treatment model for children with FX, there is still hope for betterment of the condition of the child.
While I was working with the FX India society, I had the chance to work with a family where all four of their children are affected. It is a family in Bangalore that we met in 2017. When they came to us, we refused to believe that that was possible, it seemed like they had defied the laws of probability. Which is when we went through the reports for all four children.
The first child presented with delayed speech. The second child had behavioural changes. The third child was diagnosed with autism and the fourth child had the typical physical physical features accompanied by all the other behavioural and development delays- the most severely affected one- and that is when they decided to get all their children tested.
This speaks volumes of how unspoken and unheard of FX is. Because had the first child been diagnosed appropriately and on time, the parents could have made an informed decision on whether or not they want to have any more children.
We stay in touch with every family that has gotten in touch with us. Every now and then, the parents send in videos and photographs of what their children are doing and nothing brings us more joy than to see them walk past their labels and to think that we enabled the process, makes it even more gratifying.”