After 12 years of questions about our son Stephen, we have got news that through high resolution micro array analysis, they have found a deletion of 1.85 Megabases on Stephen’s 5th chromosome. This is huge news for us, as up to now the doctors could find nothing to explain Stephen’s condition. Stephen is 12 years old and is classified at the severe end of intellectual disability. He has had every test possible, including MRI scans, lumbar punctures etc. where nothing has shown up. Now for the first time the doctors have found an explanation.
Science is moving on in a massive way in the area of genetics and diagnosis. Up to now the doctors could only really test for known conditions or give a diagnosis based on symptoms. But that has now changed; with this new array testing, they can now look in a very detailed way into the DNA to find any abnormalities and have a better chance at finding out what is wrong.
Unique, the UK-based rare chromosomal support group, explains it like this: ‘previous test results were like an old.fashioned map of the world which showed just a wide overview (country level). Doing an array is more like using Google earth which allows us to zoom in much more closely, even down to street level, to give a closer and clearer idea of which genes, if any, are missing or duplicated.’ (For more information see www.rarechromo.org)
Science is progressing, but it is just the beginning. There is so much we still don’t know. As Scott LeRette, the father of a child with autism, points out in his blog ‘There are many things about our son that we will never began to understand and comprehend. What makes this ever more complex is the fact that the experts, clinicians and thought leaders aren’t that much further ahead of us. Sure, there are great leaps and bounds with technology and therapy, but the fact remains that we have a very long way to go.’
Indeed, there is a long way to go. We went to meet the doctors to understand what this deletion on the 5th chromosome means. After all the years of no diagnosis, I was expecting to hear that Stephen has ‘xxxx’ syndrome, and there is a family you can contact who has a child with the same syndrome. However, that was not the case; what the doctors told us was that Stephen is unique! They cannot find any other child (not only in Ireland, but also across the world) with the same condition. The doctors explained that in fact they know very little. As yet, they do not know exactly what each part of every chromosome does. We have given our consent to be involved in research with doctors and scientists that will hopefully help Stephen and other children in the future.
The other worry for us is the possibility that Stephen’s condition could in some way be hereditary, as this is very significant information for Stephen’s siblings. The doctors told us that they are 99% sure it is not hereditary, but just to be sure my husband and I are having our bloods checked and we will have results in a few months.
There are many children and adults with intellectual disabilities across Ireland with no diagnosis. We need to raise awareness that there are new genetic tests available that can identify rare chromosomal disorders. At least 1 in every 200 babies in the UK is born with a chromosome disorder (it is probably around the same in Ireland). So this can happen to anyone. Rare chromosome disorders occur because of extra, missing or rearranged chromosomal material. This means that the certain genes (the instructions that should make our bodies work and develop properly) don’t function correctly.
We discovered that, in fact, this array testing has been available for a few years; by good luck we met a doctor about something else who suggested we request these tests for Stephen. If you have no diagnosis or know someone in a similar situation, please let them know about this array testing and that they have to request to have it done. It can be organised through their own GP, or by contacting the National Medical Genetics Centre in our Lady’s Hospital for Sick Children in Crumlin, Dublin.