Living with Fragile X

7 Apr

From an NhS site I found. I chose this story because I have taught a child with fragile X. It was extremely tough to comprehend what they were facing, yet an extraordinarily rewarding experience being her teacher.

How did you find out about the condition in your family?

My son Shiv has Fragile X. It all started with my nephew, who was diagnosed when he was 10 years old with the same syndrome. By that time, my son was already born. My sister briefly told me about it – my son was only 15 months old. The more I thought about it, I could see more signs – something was not right.

We went to a hospital and asked for DNA tests – through our paediatrician. We kept comparing my son to our daughter. We went for the tests, which take about six weeks to come back. The hospital called us in but the doctor (who was Asian), called me in first. He knew being Asian, that things could be difficult as I am the carrier. The doctor said “Do you want me to speak with your husband? As I know how Asian families work and that could be difficult for you.” I said “No, it’s fine, you can bring him in (referring to my husband). I want him to know what’s happening.”

What information did you receive?

In terms of information, no information was given. We were just told it was Fragile X and that was it. Total shock – didn’t know what it was, how it goes, anything about it. In shock. Just left. At home – started to look at it, how to get information. Someone gave us a number – a nurse or doctor, for the Fragile X society, a name, contact / link. I phoned them, had no knowledge of it. They sent some information to read, still in total shock. Never expect it’s going to happen to you. For a few months, I couldn’t talk about it, kept bursting into tears. Found it difficult. My husband was ok – it didn’t sink in how difficult life could get. As he got older, 2/3 years old, I did things to teach him, spoke to the health visitor, went to a Fragile X society conference.

What about health and social care input?

The health visitor recommended portage – teaching him how to play, talk – as he could not speak or communicate. The lady used to come in once a week and taught me how to interact with my child, play with him, setting me targets. I had to leave my job to become a full time mom as I felt that no one could give him the input that I could. The portage lady was very good and this early intervention was very good. A speech therapist also used to come to our house and I would go to the hospital once a month – to see doctors on a Sunday. It was a special clinic for students (medical) – on how to give a diagnosis and how they could help. Much information was received that was helpful. The health visitor has also been helpful with practical support – informing me of aids I can get and her and the social worker organising their visits together, so they can work together.

At 2 and half years old, Shiv went to nursery with a one to one key worker. This stopped when he was 3 and a half years old as they said it would be better if he went to a special needs school – but no school was allocated. Then he went to a school for 3 days for a couple of hours and a carer had him for two more hours, giving me a chance to do all my other chores and have a break from him. At 5 years old, he went to another school full time – a mild to moderate learning disabilities school. At 7 years old, he went to another special educational needs school.

My husband could not cope with it and has ended up in counselling. I felt I had no time for my daughter and whilst I think I am doing ok, my husband thinks I am in denial.

Receiving the news

Going back to the diagnosis, it was handled very sensitively. A nurse came and told us the result and that the doctor would be coming along shortly to talk to us. She sat us down in a quiet room and said that it would be like bereavement. Every parent has dreams for their child and things will never be the same. I was in tears and she comforted me and said that if there are any questions, please feel free to phone us – if not now, later.

Genetic counselling was available and we took it up because I wanted to know how I got it. The geneticist explained the family tree and how it happened. My father was the carrier but not affected and through him, I became a carrier. I asked both my parents to be tested but my mother refused, not wanting to know and not wanting to be labelled. My dad said “I’ll do anything to help” and took DNA tests. My mother didn’t want to go for tests and I could not force her. Thereafter, my parents were supportive and dad said whatever we can do, we will. He felt guilty but had not been aware. I said to him that it’s not your fault.

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One Response to “Living with Fragile X”

  1. MsGrnEyz April 10, 2013 at 00:22 #

    I love reading the stories about how people learn they have fxs in their family. My son was missing major milestones. No one would get tested outside of myself.Everyone guesses who has it, who carries, and who doesn’t. My son is almost 17 now and is doing excellent despite the fxs :).

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