Until my nephew, Elliott, was born almost 13 years ago I had no clue that rare chromosome disorders existed. I knew about Down’s Syndrome – which Downs Side Up so eloquently writes about – and I knew about ADHD and autism but there was something else that was going to enter in our family’s fold. A rare chromosome imbalance. So rare that it doesn’t even have a name and that, apart from Elliott, only affects 2 other people in the world that we know of. Elliott’s karyotype is 46,XY, der(18)t(18;20)(p11.21;p11.2)mat whereas people with normal chromosomes will have a karyotype of 46, XY (male) or 46, XX (female).
When I found out out that my sister, Stephanie, had discovered that she carried a balanced translocation in her chromosomes, I knew that I needed to get tested too. It required a blood test that was sent off to a laboratory in London. I then found out that I also carried the balanced translocation which basically means that part of my 18 and part of my 20 chromosomes have swapped places. They have balanced each other out so that I carry no disabilities.
I have a lot to be thankful for because of Elliott. I was much more aware of my body and how it might affect my children and, when I was pregnant with Grace, I had a CVS done to find out whether she carried any abnormal chromosomes. It turned out that all of her chromosomes were straightforward and not affected. He has shown me just how strong a family can be and I have complete and utter respect for my sister and her husband. He has a very big family who are full of love for him. In fact, I wrote a post about him around this time last year for Rare Chromosome Disorder week.
There are a few of us siblings who carry the balanced translocation but we are armed with the knowledge that we may not have had and it means that we can be prepared for anything! We also joined a charity called Unique and they are the people who have put together the Rare Chromosome Disorder Awareness week. It can certainly be a tricky subject to understand and for that reason, on Thursday of Awareness Week (June 11th), they will be taking your questions on their public Facebook page. They can’t promise to answer everything, but they can help with broad questions relating to rare chromosome disorders and if they feel your question requires a confidential answer, they will contact you afterwards.
There are many things being done across the country to help raise money for this extremely worthy cause. If you would like to find out more or to donate to Unique for Rare Chromosome Disorder Week then you can find their website here. They are also on Facebook and Twitter.
In the meantime, I shall leave you with more about our cheeky boy, Elliott.