What comes to your mind when you read the word Fragile?
Immediately you have an image of a sticker with a red glass and a warning “handle with care”
Today Shalini will talk about Fragile X Syndrome which also needs to be handled with care but more of love, understanding and awareness. Fragile X Syndrome is an inherited condition which causes intellectual disability and Autism. It is often carried down silently through generations.
Roopa and Harish welcomed their baby boy in June 2015. Their happiness was beyond measure as things were panning out just as they had planned. Marriage, secure job and then children. Everything was so perfect! This was their first baby, at six months baby could not sit and was a cranky baby who did not even sleep well. By 12 months baby was not even standing independently and this was an alarm for his parents. A few visits to doctors, innumerable tests, loads of anxiety and tonnes of tears and fears later they received the diagnosis that their baby had Fragile X Syndrome. Their world was shattered! How could their plan have gone wrong? Nobody in their family had any intellectual or developmental problems.
Shalini, Chairperson of the Fragile X Society of India, started this organisation in the year 2003 with a simple goal to provide a support to families just like Roopa and Harish. Having a diagnosis of a rare condition is very challenging and families need a road map. They want someone to hear them out and tell them things are not that bad. They need to have faith to climb the mountain and hope to see the rainbow on the other side. We at the fragile X society are all of this and a lot more.
The number of families affected was growing and we started seeing families with more than two or even three children impacted in one family. After all, we are talking about a condition which is rare and a country with a large population. We started spreading awareness on Fragile X to enable children to get an early and accurate diagnosis. This also empowers families to make informed decisions for their next child.
Things to look out for would be delayed development, speech delay, intellectual disability, autism or autistic traits. There are also a few physical features like a long face, protruding ears, large forehead, prominent jawline, hyper-flexible joints.
It is important to know that it is a spectrum disorder and one may not see all symptoms always. As of today there is no cure for Fragile X, but early intervention makes a huge difference and ca help the child’s prognosis dramatically.
How is it possible for everyone to be aware of so many conditions in the world? Ask a family this question and one will realise that sometimes it is better to be safe than sorry.
Harish and Roopa are doing a wonderful job in raising their son who has achieved a lot of milestones and is a happy child. They also have a little baby girl who is not affected and fills their life with colours like a rainbow!
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