On Tuesday 10th April 2018 we had 2 very interesting visiting speakers from the Oxted based charity called Unique. Dr. Beverley Searle – Chief Executive, and Arti Patel – Information Officer, who attended to tell us about the work of Unique which strives to inform, support, and alleviate the isolation of anyone affected by rare chromosome disorders, and to raise public awareness of rare chromosome disorders.
At least 12 in 200 new-born babies will have a rare chromosome disorder, which means that they have genes missing, added or re-arranged on one or more chromosomes. The effects can be devastating, generating severe physical and learning disabilities. Some are unable to walk, talk or feed themselves, whilst others only find out that they are affected when they grow up and try to have children of their own. These disorders are very rare but collectively more common than even Downs Syndrome, and they are lifelong disorders for which there is no cure.
Due to the rarity of these disorders, doctors, social workers, and physicians are often unaware of the thousands of different disorders that exist, some of which are literally unique to one person. The charity Unique supports 16,600+ member families across the world. Unique provides a lifeline for families, providing a ‘listening ear’ helpline, providing information fact sheets on many of the rare chromosome disorders, linking families with others living with similar disorders to provide mutual support, support medical professionals of those affected, and being a networking point of local and national sources of help. Unique also produces over 250 family friendly disorder specific information guides, available in many languages including; English, French, Spanish, Arabic, Greek, Russian.
Beverley told us the heart wrenching story of her daughter Jenny who was born with a severe rare chromosome disorder, who was wheelchair bound, unable to speak and totally reliant on her parents. Beverley told us that before she had children that she had worked as a post-doctoral biologist specialising in genetics, and after Jenny was born she realised that she could make a difference for patients with these rare chromosome disorders and joined Unique in 1991. The small charity which comprises just 8 staff, and 8 trustees, receives no government funding, relying on voluntary donations, fundraising and corporate support to generate its income.
I came to invite this charity along, because in 2008, when my wife and I were having fertility tests done to research why we could not conceive a 2nd child, I discovered that I have one of these rare chromosome disorders called 47XYY. I did quite a lot or research myself into this disorder, and I noted that this disorder is only passed to males, but the most startling discovery that I encountered was that 50% of all carriers have problems with fluency, which for me was a huge weight lifted from my shoulders, to discover that this is most likely to be the reason why I stammer. It is estimated that approximately 85% of all 47XYY carriers will never know that they are carriers of this rare chromosome, because they would be unlikely to have the need to have a chromosome test undertaken. If you want to learn more about Unique see their website at:- www.rarechromo.org
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