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Klinefelter's Syndrome
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Does Understanding Our Difference Make a Difference?Have your say on the benefits of genetic testing for learning disability.
By Brendan Gogarty
I have recently taken up the role of Public Involvement Manager at the Cambridge Genetics Knowledge Park, one of six such organisations in England and Wales dedicated to bringing together different areas of expertise in medical genetics to create benefits for the community as a whole. This has brought me into contact with some very talented geneticists, clinicians and researchers. Often as I talk to them I find the conversation peppered with strange abbreviations, new words and complicated science. More than a few times my head has spun with the complexity of it all. I’m sure my colleagues have stifled a laugh or two as I furrow my brow in a desperate attempt to remember what ‘CGKP’ or other acronyms stand for. Maybe this is in part because I am new to the Knowledge Park and indeed to your country (I am yet another Australian to take root upon your sunny shores). It could also be because our backgrounds are different – I was trained in law and policy. Yet, it must be more than just my training, because while I have always enjoyed and appreciated science, it is the literary arts at which I have always been best at. So perhaps the reality is that my brain is wired a bit differently to my scientific colleagues and I will always take that little bit longer to get my head around the technical side of things. Luckily for me, people who work at and visit the Genetics Knowledge Park understand that not everyone thinks, learns or reasons in the same way. They take the time to explain areas that I am a little confused about, just as I try to simplify and explain social or legal issues that they may not understand so well. We recognise that everyone has different skills and limitations, not just physically, but mentally too. These differences are important because we can all benefit from individual’s unique qualities. On the other hand, we also need to be aware that, at times, we must put a bit of effort in to assist those who don’t have the same skills as us. This doesn’t just benefit them; it benefits us all, because it allows us to find the common ground needed to move forward. If we didn’t do this then the scientists, ethicists, lawyers and other professionals at the Genetics Knowledge Park would stay in their own groups and very little would get done. Exclusion is something we work very hard to avoid. Working in the area of genetics makes you realise that difference should be celebrated. It is what makes us unique, individual and special and it is what makes our society work so well. However, we are also aware that society is structured in a way that makes it harder for people with certain inherited physical or mental differences to act or interact in the same way as others. This can impact on their lives, their family’s and loved one’s lives, the services available to them, the things they can do or the way others treat them. Where this is the case, the Genetics Knowledge Park and the health professionals we represent endeavour to understand the genetic basis for such inherited difference. Our aim is to use this knowledge to help those whose lives are made harder by genetic difference to overcome the challenges they face. One of the groups the Genetics Knowledge Park is interested in is those with learning disability. Learning disability is an umbrella term used to group people with similar conditions together so as to ensure they receive appropriate recognition, help and support. Generally, it refers to someone who finds it harder to learn, reason, or interact than others. It is also used to refer to situations where a child’s ability to learn is not yet clear. Because it’s such a broad term, learning disability can mean very different things to those who experience it. In this way it is similar to other conditions such as blindness. Someone may be fully blind or partially blind and so on and so forth. So too may someone be described as having a ‘severe’ or ‘moderate’ learning disability. Furthermore, just as people may be blind for a variety of reasons, learning disability can also be said to have various causes. However, in many groups that exhibit learning disability symptoms – particularly where those symptoms are severe – there seems to be an abnormality or difference in their genetic make-up that can be said to have caused the condition. We believe that, as the science and our knowledge advances, even more learning disabilities may be seen to have a genetic cause. Knowing something’s root cause is different to knowing what to do about it. However, it certainly can help. Take me for example. Just because we know why I don’t have the technical know-how that some of the scientists do doesn’t automatically make the conversation between us any easier. On the other hand, it is a good start. Understanding each other’s backgrounds and skills helps us to approach each other, find common ground and work out what support each of us might need. Certainly it takes a little bit of effort on all our parts, but it means that each time we talk my head swims a little less and we all understand each other a little better. Who knows, maybe it’s the same for them too. How is this at all relevant to our work on learning disability? Well, as science and understanding advances, we have in our possession more and more tests that can help us identify the underlying genetic cause of learning disabilities. In many cases there is a benefit to be gained from a genetic test. Sometimes it may help us find a treatment. In other instances, it can inform parents about the possibility that any further children they have might also have special needs. On the other hand, it might reveal that the child with the learning difficulty is unique and other family members, their children and descendants will not be affected by the condition. In other cases the benefit of a genetic test isn’t so clear and the test will only provide raw data in the form of a diagnosis. Is simply knowing something’s root cause enough? Are there times when it is better not to know? How could we improve the way a test is undertaken, delivered and followed up? We think these are important questions that need to be addressed. We want to work out when and if a genetic test for learning disability is beneficial or what additional support might be needed to make it so. While our work will involve the expertise of geneticists and clinicians we think it is imperative to involve those who are affected by an inherited learning disability. We want to draw on their experience of how obtaining a genetic diagnosis has impacted, or could impact, on their lives. We aim to use this information and advice to build guidelines on the way genetic testing for learning disability occurs. As part of this process, we plan to undertake discussion groups in Cambridge and London (travel and care costs can be reimbursed) supplemented by an internet discussion board with those who are affected by the condition. We are also happy to hear the personal stories of those unable to participate in the above events. If you, a family member, or someone you care about has a learning disability we would greatly appreciate your expertise and experience. If you would like to be involved, please contact me, Brendan Gogarty, by email [email protected], phone 01223 740784 or by post [Cambridge Genetics Knowledge Park, SRL, Worts Causeway, Cambridge CB1 8RN]. We hope you can raise our awareness, because in this instance it is you who are the experts and we who need to be educated. It might take a little bit of effort on your part but your involvement will hopefully result in an improvement to the lives of many others. Your unique contribution is valuable to us, so please help us make a difference.
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All information on this site is correct to the best of our knowledge, however the KSA (UK) recommends that you verify all facts before acting upon them. Medical treatment and advice should always be confirmed by your GP, consultant or family doctor. Copyright ©Klinefelter's Syndrome Association UK |