Picture Courtesy: Fragile X Society of India
It was a cold December morning in 2007 when my phone rang. On answering, there was a woman on the other end crying uncontrollably. Through her cries all I could hear was, “I need to get my foetus tested for Fragile X Syndrome. Please help me”. I gave her a few moments to gather herself before we could have a constructive conversation.
She introduced herself as Maya and shared her ordeal. She was 8 weeks pregnant with her second child and the evening before, her older sister told her that her son had Fragile X Syndrome which is a genetic condition. Hence, it was imperative for Maya to test her own baby, too. Maya was devastated on knowing about her sister’s son’s condition and the fact that they did not know about it for all these years. Maya had an older daughter aged 4 who was, by God’s grace, absolutely fine. We first needed to get Maya tested, to check if she was a carrier, before testing her foetus. Her results were back in four weeks and confirmed that she was a carrier for Fragile X premutation. She dreaded the future but went ahead to test her foetus.
Maya had spent the last eight weeks of her life with mixed emotions of fear and strength. The reports were in and they revealed that her foetus was affected with the condition. She needed to take a decision whether she wanted to bring a child with the condition into the world or let go of her baby. Her sister advised her not to cling on because dealing with a child with special needs is not easy. With a heavy heart, Maya went ahead and aborted the baby and with it a lot of her dreams, too.
This story does not advise you to abort a foetus if affected with the condition. While Maya chose to abort, there are many women who chose to bring their little ones into the world and deal with the consequences.
The above narration is only to highlight the need of creating awareness for this lesser known condition. It also shows how important it is to break taboos about such situations. Also, it is important that families avoid living in denial and accept the situation as is.
Fragile X syndrome is an inherited condition which can cause mild to moderate intellectual disability. It can silently pass down generations. It occurs because of changes in the FMR1 gene located in the X chromosome. These changes make the gene shut off and not produce a protein essential for brain development.
As of today there is no cure for Fragile X syndrome, but an accurate diagnosis and early intervention can truly help the prognosis. It is advised to do a prenatal genetic test, for both parents, prior to conceiving. Check here for more details on the same.
Family Health History and Ways to avoid Genetic Disorders
We at the Fragile X Society of India serve as a support system for families affected with the condition. We have been instrumental in the launch of the Guidelines for Fragile X Syndrome in India. We strive to spread awareness for Fragile X and related disorders.
We believe that, together, we can change lives, raise awareness and help make a difference. As a community, as a society, we can show our support to the affected families by helping in any way possible. Together, we are stronger. You can also support us monetarily by donating here.
ABOUT THE AUTHOR
Shalini Kedia
Chairperson, Fragile X Society-India
Shalini founded the Fragile X society of India in 2003 with a goal to provide support to families affected with Fragile X Syndrome. She saw that the families affected are growing in number a lot faster than the awareness on the condition and took up ‘awareness’ as the next goal.
The organization has supported around 3500 families in India.
Shalini is the co-author of the Guidelines for Fragile X, issued by the IAP.
She is a TedX speaker and has spoken at various conferences on the subject.
This blog post is part of the blog challenge
‘Blogaberry Dazzle’
hosted by Cindy D’Silva and Noor Anand Chawla
and powered by Deyga.
25 Comments
I have been coming across information on Fragile X quite frequently this year but had never heard of this condition earlier. This was an engaging post to introduce the problem.
Inclusiveness is really important in our society today. Glad that we are creating the awareness by writing about these kind of posts
This is a wonderful post I come to know new things Very Informative post.
Great post. Informative post. I did not know about this.
This article is so informative. It’s really important to spread awareness about Fragile X condition and how we can deal with it. This is new for me too. Shailini is doing a great work.
Fragile X syndrome is something that’s a lesser-known disease. The awareness spread by Shalini is motivating me to forward it to others.
I have heard of Fragile X earlier but don’t know much details about it. It is both physically & emotionally challenging to bring up a child with any kind of special needs. Awareness is also very important before the decision is made. Whether one decides to give birth or not, it should be the choice of the parents and in both cases, the decision deserves a salute as it will not be an easy one. Glad we now have support groups like Fragile X Society-India to help parents cope with conditions.
Reading about Fragile X made me sad. Glad that awareness about these known conditions is spreading.
I have never heard about Fragile x. It is really difficult as a parents. But yes, it doesn’t mean to abort the fetus. It require lot of patience n strength as a parents. Thank you for sharing.
This is the first time I have heard something like this. And I am personally one of those people who doesn’t ignore any condition I’m less knowledgeable of. I can imagine the awareness level of other people. Glad that you are taking steps to talk about it.
It must be so difficult to raise a child with special needs. I wouldn’t know what to do if my child was diagnosed with a genetic condition.
I guess the first step, as the article says, is to raise awareness about genetic conditions and the need to conduct tests before deciding to have a baby.
I’m glad people and institutions are working towards it.
We need more awareness about these conditions. Thank you for sharing about it. In India, there is very little awareness about fragile X. A friend has a special needs child and I have seen her struggle so much. Prenatal testing should be the norm.
OMG…I thought I almost knew everything to do with pregnancy and childbirth. But this post has shown that there are so many unknown factors which we need to know. Very informative post indeed.
Omg! I didn’t know anything about Fragile X. Thanks a lot for this awareness post. Very informative post.
Very few people in Indian know about Fragile X syndrome. We surely need more awareness about it. Prenatal genetic test is extremely important. And people should not judge if the parents want to terminate the pregnancy or continue with it.
This is so informative and insightful post about FRAGILE X SYNDROME. I did not about this syndrome and now when I read about all these I think we have encountered many babies with this syndrome. We always think they are abnormal but actually, this syndrome is sadly genetic.
Parenting of child with special needs is so tough , parents need support from others to deal it.
Fragile X is not a common condition and not many people are aware of it but to those affected , it has life long challenges.You are doing wonderful work by creating awareness and helping with funds for this untreatable condition.
This is such good information. I had no idea about this and this is great awareness information about it. Many might not be aware of this condition actually. Thanks for sharing.
The decision to go ahead with delivery or abort is a biggest dilemma. Awareness about Fragile X syndrome will help many upcoming parents to take a wise decision.
I have never heard of Fragile X . I can understand that how hard it must be for those parents whose kids are going through this. The positive side is people are becoming aware of this slowly steadily.
Of late the awareness about Fragile X is growing. The prime part is to identify the condition and do the needful.
There is very little awareness around FragileX syndrome in babies and how it can affect their life. I’m glad to see the awareness that is being created now across social media too. Very informative post.
Great post Cindy. yes frgile x syndrome is a rare condition and many people are not much aware about this, Shalini has shared great information with this post and she is doing great in supporting needed family.
I have never heard of Fragile X but as a parent, I can understand that how hard it must be for those who come to know of this condition about their child. But the good part if now people are becoming aware about it and there are support systems to help out the parents.