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.
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
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.