Bryn and Shelley’s Story
Bryn was my third child and his first year was not without its up and downs. From a very early age he found feeding very difficult and suffered from severe reflux. Many sleepless nights and many anguish filled visits to doctors and specialists were undertaken for Bryn who seemed to be struggling to master the basic skills of survival that had come naturally to both of my other children.
As time went on things didn’t seem to get easier. By 18 months Bryn was not developing like those at the same age and stage and we had noticed that he had developed some unusual behaviours. Bryn liked to rock, and became stressed with bright lights and noise. His feeding and coordination was still a struggle and he was not yet crawling let alone walking. When it was all put together it seemed to us that something was not quite right. After more frustrating visits to doctors and more opinions it was just put down to general developmental delay and that with time and work he would hopefully catch up.
Bryn’s cousin Connor, who was 6 months older than him, was also having many of the same problems. A paediatrician that Connor had seen had undertaken a number of tests and had already diagnosed Connor as being on the Autistic spectrum.
When the tests came back for Connor with a positive result for Fragile X syndrome our world was turned upside down. I had never heard of Fragile X before and so started undertaking my own research of the condition. I quickly discovered that Fragile X syndrome was a genetic condition passed down through the generations of a family and therefore decided to have Bryn and myself tested. Bryn’s tests came back positive for full mutation Fragile X and I was a carrier.
Those first few months were a period of great uncertainty, guilt and grief. Initially we were devastated by the news and assumed the very worst outcome for Bryn. I read about physical as well as intellectual disability and the struggle for those with Fragile X to achieve meaningful relationships with those around them. My husband and I grieved for Bryn and the future that we felt he had lost and we spent some time coming to terms with the new picture that had been presented to us. I felt a sense of guilt for passing on the gene to Bryn, not only for my little boy but for the rest of my family and my husband.
However, once this initial period of shock passed we came to terms with the diagnosis and although the future had changed, it was not bleak at all. Bryn was still Bryn, a beautiful, smiling, loving little boy. Yes, he would continue to have struggles with things that others may not do daily battle with but he would have a patient, compassionate and beautiful nature as a result.
I understood that my guilt was not reasonable and that it was not my fault at all, it was just my genetics and I was powerless to prevent something I did not know that I carried.
I see the diagnosis as a positive turning point in our lives. This knowledge empowered me to seek help for my son, and to tell my family so as to help them make more informed decisions when planning a family. I took time to look back through my family history and saw how Fragile X had been affecting us for generations and we didn’t realise. In fact it had been affecting me for my whole life and I didn’t realise. I am a qualified bio-chemist, I have always had a successful and full life and yet at times I had felt social awkwardness and sometimes suffered from anxiety which all now made sense given what we know about carriers of Fragile X.
Bryn is nearly three years old now and it is obvious to everyone that he is a happy child. Although at times frustrated, he is undoubtedly benefitting from the early interventions and therapies that are designed to help him learn and make sense of the world in a way unique to him.