Diagnosis.

We learned about Fragile X when my son was 19 months old. We weren’t aware that our family were carriers for Fragile X so the diagnosis actually came as a surprise for us and completely out of the blue. None of my extended family have any learning disability, let alone intellectual disability.

Geoffrey was my first child. When we were still in hospital after his birth, one of the nurses said to my parents something about something being wrong, but did not say what or take it any further. We were confused by this statement, and I only found out about this after Geoffrey had been diagnosed.

With Geoffrey being my first child, I did not have any other children to compare to, to be aware of delayed milestones or anything being wrong. Whilst Geoffrey could not feed properly and did not have a developed suck response, I was totally unaware that this was an indication of something more significant to come along.

Life was pretty ‘normal’ in the first year. I went back to work as an Enrolled Nurse when Geoffrey was 6 months old and although slow, he did respond. He was such a happy little chap and would respond to our silly antics to make him laugh. He loved being bounced on our double bed when he was just over a year old and would scream in delight and laughter. He had an infectious little laugh which delighted all around him

When Geoffrey was 1, I fell pregnant with my second child. It was during visits to my local doctor that the issue of disability was raised. I had gone because both Geoffrey and my then husband were sick. I was also not very well, but we couldn’t afford the doctors fees for the three of us, so my husband and baby were attended to. The doctor we saw was concerned about my state of health and questioned me about Geoffrey’s developmental milestones. I remember it was a pretty vague conversation with me experiencing some confusion over why these questions were being asked.

I went back to the doctor a little later on, and saw my regular doctor. I became frustrated with him and asked him why everyone was asking me all these questions. He pulled out his pediatric book and asked me questions relating to all the milestones that Geoffrey should have reached at his age. I remember only answering positively to one question. With that, he referred me to a paediatrician who ordered blood tests from both Geoffrey and I. He questioned Fragile X and I am not sure what indicators were present for him to think of this, given that there is no family history of it in my living relatives.

The blood test came back approximately 6 weeks later confirming the diagnosis of Fragile X. At the time I was seven months pregnant with my daughter. The Paediatrician then went on to give an overview of genetic counseling and the various options. I was shell shocked. Numb was a description that I could apply at the time and whilst everything seemed to be going over my head in a blur, I remember the conversations word for word.

Katherine was born on August 24, 1989. Whilst in hospital the Paediatrician came to the bedside saying that he needed to take a blood test because she could be affected as well. I think this is when I realised the effects this disorder would have on our lives. I was also angry with the Paediatrician becaue he came and dropped this little piece of news in my lap whilst I was in hospital following the birth of my second child, and never actually sat down to comfort me or talk about how I felt about this news and how I was feeling. Whilst I thought he was a very good Paediatrician as far as the kids were concerned, I thought his bed side manner was appalling and very sub standard.

With this news came the rounds of early intervention. This had commenced prior to Katherine’s birth so we were in the midst of establishing new relationships and friendships that revolved around disability. What distressed me most in that environment, was that all the mum’s with Downs syndrome children tended to draw together, and often I felt like I was the one left out. No one else had a child with Fragile X. When people asked about it, it meant a lengthy conversation about the disorder, it’s transmission and also the potentials for any future children to have it. In amongst all this, my marriage broke down. I don’t think that either of us were to blame, we were both dealing with very changed circumstances and views in different ways. I also think that both of us were depressed but whilst I sought help for mine my ex-husband at the time drew to spiritualism – something that I am totally against as a Christian. I was scared about his involvement in this organisation, and also I gained the perception that they did nothing to help repair our marriage when we finally separated. Katherine was seven months old at the time.

Advertisements