How many of us have heard of the Fragile X Syndrome or FXS?  The chances are that most of us haven’t.

What is Fragile X syndrome?

A single gene cause of intellectual disability and autism worldwide, FXS can cause intellectual disabilities, attention deficit, hyperactivity, speech delay, etc.  The Fragile X gene is passed down or inherited from one generation to another. A mother who carries the gene has a 50% chance of passing it on to her child. However, a father who is the carrier of the gene will pass it on to only his daughter and not his son. This is because daughters will inherit the X chromosome from affected fathers. But because women have two X chromosomes children of either sex of an affected mother can have the chance of inheriting the gene.

It is estimated that that approximately one in 3600-4000 males and one in every 4000-6000 females are affected with FXS. However, the awareness around Fragile X Syndrome is yet to become as commonplace as Down’s Syndrome or Autism.

Fragile X Society India

To spread awareness about FXS, Shalini Kedia has been spearheading the Fragile X Society India. Founded in 2003, the society’s core goal was to provide support to families that had children already affected with FXS. “We started serving as a platform for families to connect with each other. We wanted to be a support by empowering the families with more resources, with an individual to speak with, sharing with them the right treatments and do’s and don’ts, etc. Initially, there was a lot of resistance; people would not want to reveal anything. But because we are a neutral organization and we don’t give them unsolicited advice, they slowly opened up and we had more and more families join us,” says Shalini.

However, as more families got connected, the role of the society expanded – and by 2008, it was a registered organization with a scientific board that had the best team put together from India and the USA. The team consists of Dr. Randi Hagerman, who is a pioneer for Fragile X studies in the world along with other doctors including a pediatrician, geneticist, gynecologist, neurologist,, etc. As Shalini says, “The idea is to be a complete powerhouse and be equipped to help the family in whichever area they need.” Today the network works really well, with a list of doctors and medical contacts listed on Fragile X society’s website. “If doctors had a question or they came across a child, they could find us on the internet and connect with us, and vice versa. If a family connected with us and said a particular doctor diagnosed their child, we would ask them to share the contact of the doctor with us so that they could be a part of our resources. Ultimately, it is about adding value to the life of the child and the family. Luckily and thankfully, whenever I have approached a doctor they are happy to get more inputs on what they can do for the child.”

Around 15 years back getting any information on FXS or even a book to read up on it was unheard of. However, research had begun in the USA and it was the Society that acted as a bridge getting the information to India and also continuing to collaborate along the way.

The Fragile X Society is the only such organization in India and it is doing tremendous work. It has a WhatsApp group of 300 families where they all share their successes, triumphs, and failures. Shalini adds, “Today if a child has taken his first steps at the age of four, the neighbor or friends are not going to understand the importance of it. But when it is put on this group, everyone is congratulating because they all have gone through the journey and it’s like a celebration. Sometimes there are sad moments also, where a parent is feeling low and the other parents talk to them to lift up the spirit and show them the brighter side and so it works both ways. That has been our strongest point and the group is very active. It is truly a safe haven for the parents and they know that this is the one place they can ask anything and not be judged.”

Yet, spreading awareness about FXS is extremely important on more than counts. Of course, knowing about the syndrome helps hugely in supporting the diagnosed child. But because FXS is a genetic condition it is imperative to grasp its understanding if parents want to extend the family further. As Shalini points out, “It’s plain simple science. The family receives genetic counseling and it’s medically absolutely possible to have the next child who doesn’t have the condition. If the mother is a carrier, she has a 50-50% chance of passing it on to her children. At 12 weeks of pregnancy, an amniocentesis can be done and the doctors can test if the child is affected or not. The family can then make a decision if they want to keep the pregnancy or terminate it, which is absolutely legally allowed in our country because it is a genetic disorder and they already have one affected child. Now we also have preimplantation genetic diagnosis available in our country wherein the couples who can afford to go in for IVF and the embryos are tested and only the healthy embryos are implanted.”

Shalini Kedia talks to us more about the syndrome, the Fragile X Society, and the everyday joys and trials of running the organization.

Fragile X syndrome on the face of it sounds a bit complex. How do parents or family members usually react? On the other hand, how would you suggest them to respond to both the syndrome and their child?

Shalini: I don’t think I can dictate how I want them to react because everybody is a human being and everybody who has called me has called me at a different point. Some people call on the same day they receive the diagnosis and some people call after six months. So my role is to pick them up from where they are rather than being judgmental or scrutinizing them. My first half an hour is only listening to them and not everybody is ready for all the information I can offer them so it’s not prudent to put across so much information and overwhelm them. Of course, I always try to show them the brighter side and we share examples of students who have achieved a lot, etc. Sometimes with one phone call, they realize the need to give the child unconditional love, and sometimes it takes time because it’s not an easy journey. You have a child in front of you who is one or two years old and is not yet walking or talking and you realize it’s a genetic condition that you have passed onto the child. There is guilt and you feel so helpless because there is no cure for Fragile X.  Every reaction that the parents have, I take it as the right reaction for them, otherwise, they are not going to open up and talk to me. And for them, we are a safe place.

As we live in a patriarchal society, how does the fact that women are the carriers of the gene work against the women in the families and how can empowerment of women be achieved through informed choices?

Shalini: It does work against the women sometimes. That is why we at the society are very careful when we speak with the parents because we have seen families where the parents have come together and the minute it comes out that the mother is the carrier, we know hell has broken at home. So we play it very carefully because we don’t want to worsen things for them. Sometimes we talk to the mother personally because we don’t know the dynamics of every family. Giving the women the information is empowering them. If a woman is carrying a child and the doctor has said that a test can help then spreading that awareness and giving them this choice and the science and medical reality of it all is empowerment. Because otherwise do we want the woman to just go on having children with all of them affected? That’s not fair! We are advocating for the right for the woman to know what she is going to live with. Ultimately, it is the woman who has to go through everything so why cannot she be informed and make an informed decision?

In what ways can the affected children be made self-sufficient?

Shalini: Early diagnosis would lead to early intervention and early intervention plays a huge role. As soon as the child is diagnosed after the therapies one can see a complete difference versus a delayed diagnosis and intervention. There are many children who have got into baking, painting and they are very creative. Some children are more impacted and some are less impacted so it depends from child to child. Also, it depends on the facilities, how much is the family supporting them, what is the infrastructure they have in their city, etc. Of course, a child with the condition is not going to be like a child without the condition. You have to look at the child as an individual, compare the child not with another child but with the same child six months ago and later. It’s all about making progress in life and learning skills and learning to be independent and self-sufficient.

What are some of the ways through which you spread awareness about the syndrome?

Shalini: We do various things. Our last conference was in 2017, we had a team of seven doctors flown in from the US. It was a multi-city conference so we did consecutive conferences in Delhi, Kolkata, Bangalore, Mumbai – and that was a very good way of getting the professionals more involved with the condition and empowering them with the latest techniques and everything that is available for the children. Whenever we get the opportunity, we keep doing workshops and seminars, etc. In 2019, the Indian Academy of Pediatrics launched the guidelines for Fragile X in India for the first time and we were quite instrumental in putting the whole meeting together. This year, we had planned another conference with the US team but COVID came around. So in the last six months, we have changed our approach to a total 360-degree awareness approach where we decided to create awareness around laypeople because it is quite essential for every individual to be well informed about their health.

If you had to list down things that society could help to better the lives of affected persons, what would these be?

Shalini: The first and biggest suggestion is acceptance. I have spoken and dealt with over 1100 families. The stigma of having a child with special needs is huge in our country and I say the next time you see someone who is different from you, don’t shy away from that person, just smile at that person. That one smile has so much power because that person is going to go home with a feeling that my existence matters in a positive way. That’s the first and simplest thing we all can do. If I am given the opportunity to ask for more, I would say if you come across a child with an intellectual disability without a known reason or with autism, tell them about Fragile X, let them read up about Fragile X.

Unlike some other conditions, such as Cerebral Palsy or Autism, Fragile X syndrome is relatively unknown. Why do you think so? Why is there not much understanding about it?

Shalini: It’s a genetic disorder and the gene responsible for the Fragile X syndrome was discovered in the year 1991, which is not even 30 years ago. Also, I think even today, information about the gene is still evolving. So when you look at the impact this one gene can have on so many people, that is why it is a whole worldwide endeavor to spread awareness. There are 30 organizations in the world working for awareness and support for Fragile X, and in India, ours is the only one. This is a huge responsibility for us! So we truly need a lot of help and support to be able to make a difference.