Siobhan

Martin and I are parents to three wonderful children – Euan (8) Luke (6) and Anna (2).

When Euan was born he was delivered without complication and by all accounts was a happy, healthy and content little boy.

Two years later Euan was joined by a gorgeous little brother and seemed to accept this new arrival with great excitement and pleasure. As Euan turned three he was enrolled at nursery school and it suddenly became obvious to me that Euan's speech was far less developed than that of his peers.

After many months of assessments by several health and education experts, the suggestion was made that blood tests and possibly even a brain scan may be necessary to establish the reason for Euan's difficulties. When Euan was three and a half I was summoned to an appointment at our local health centre to hear the result of blood tests. The result read "Fragile X Syndrome" and was given to us by a paediatrician who had no real knowledge of the condition. In fact, I went home oblivious to the implications of such a diagnosis. The real information was given to me that night by searching the internet, and then my husband and I were devastated.

"Life-long living assistance, learning disabilities, speech and language problems, hyperactivity, social anxiety, possible epilepsy…"

After this diagnosis we received direct contact from the Clinical Genetics Department at Yorkhill in Glasgow. For the first time we felt someone had some compassion towards our situation. Facts were explained simply and every discussion was followed in writing which helped us go over things again ourselves and make sure we understood the sometimes complicated facts surrounding genetics! Most importantly, we learned that Fragile X Syndrome carries a 50/50 chance of being passed to further siblings. We knew then too that any further children would be at equal risk.

Life has a funny way of throwing things at you when you least expect and, two years after Euan's diagnosis, we learned that I was pregnant again, this time expecting twins. To feel such joy and such worry at the same time is indescribable.

I contacted Clinical Genetics and everyone worked to help and advise us. Tests were carried out at Yorkhill and all of the staff could not possibly have been more thoughtful or understanding. Eventually we received the sad truth that one twin was affected by Fragile X Syndrome and that his health was poor. The second twin, our daughter Anna, was unaffected.

Again, how do you describe the mixture of emotions? The staff at Yorkhill were constantly on hand, by phone and in writing during the subsequent hard months. Our unborn son died and Anna was delivered some weeks later. She is happy and healthy today, and a miracle in our eyes. Throughout the trauma that we experienced during the whole pregnancy, Martin and I found the staff at Yorkhill so warm, helpful, thoughtful and ultimately professional. Without their expertise we may not have our healthy little girl now. Our gratitude is immense.

Siobhan and Martin
Stirling

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