Rare Chromosome Disorder Awareness Week 7th to 13th June 2015
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.
My daughter is being tested for chromosome issues, she has a marfanoid habitus (long, stretchy body) but the genetic tests have not proven anything positive yet, so she’s having chromosome testing as a back up. It’s amazing what they can do these days, My daughter might not be here now if it hadn’t been for my pushing the medics to finding out what was wrong. These kind of tests are so important and anything rare needs to be highlighted so it’s not missed in the future. So well done in raising awareness, and much love to your family xx
I had no idea about this – great post and thank you for sharing and raising awareness. Kaz x
Thanks so much for sharing this Vic and highlighting chromosome week. Elliot really is a unique young man and has an incredible family around him! I have a friend whose son has a rare chromosome disorder so have a bit of an understanding. I know that it can be really tough at times but he is such a joy. #pocolo
Well isn’t he looking smart in his tie?! Great to help other people realise that there are all sorts of conditions going on there in the real world, a little more understanding is always helpful. Sasha loves Minecraft too, is much better at it than me (though that wouldn’t be difficult ;)) xx
Thank you for sharing, it has certainly raised awareness here as was not something I knew about.
Thank you so much for highlighting the facts about chromosome disorders and imbalances. I had no idea about it. I will go and take a look at Unique’s website and find out more about how they are raising awareness x
Thank you for hightlighting this as I had never heard of it but raising the awareness is what it’s all about x
I knew nothing about this until reading this post, thank you for making me aware
Thank you for sharing this. Such a rare condition but just shows that Elliott is more than a one in a million 🙂 He definitely has a cheeky smile!
Becky xx
I know a few families whose children have chromosome disorders that I had never heard of who I met through our time on the children’s cardiac ward. Sounds like your sister and her husband have a wonderful supportive family and what a gorgeous smile Elliot has. It must be very hard when there are so few other families whose child has the same condition. Thank you for helping to raise awareness.
Oh my goodness, I can’t imagine having something that rare. That makes him incredibly special doesn’t it? I studied biochemistry and genetics at university and have never heard of anything like this. Thank you for raising awareness of it. Have a great weekend.
Wow, that really is very rare indeed. I have heard of chromosome disorders before but didn’t realise they could be so rare and specific. Well done to you and your family for raising a lovely boy and raising awareness too.
Great to raise awareness of this. I know a bit about some chromosome disorders, but had never heard of a chromosome imbalance like this (probably unsurprisingly, given how rare it is). It sounds like Elliott is doing brilliant, but it must be very hard to cope with a condition so rare that there are hardly any other comparable cases out there – well done to your sister & your family. #PoCoLo
It’s great to help raise awareness of this. I have a friend with a rare chromosome disorder, so rare they actually named the disorder after him. It is tough for them, but raising awareness definitely helps. x
It’s good of you to raise awareness in this way, I hope the fundraising goes well. Elliot looks like a real happy chap despite his problems. Thanks for sharing x
You’re great to be raising awareness for this! Elliot sounds like such a sweet boy full of personality. Thanks for sharing #PoCoLo x
I remember that post from the past (was it a year already?) and that is the first time that I have heard of this. I cant help financially but I will try to repost this on my social media accounts. I hope that would help on telling people about this =)
Yes, I agree, you can totally see Elliott’s personality shining in that picture. I have heard of chromosome disorders (though never this exact one or how it affects individuals.) Sometimes I feel I should use my blog more actively for charity work and awareness (We have plenty of issues believe me!). But it is a hard thing for me to be so open online. So, well done you! For helping out a little boy, and telling a part of your families story x
I love yours and your families attitude to just gather up the information and raise awareness. such a positive and inspiring post, great stuff and best of luck! #pocolo
I must admit that I don’t know much about this – thanks for raising awareness lovely xx
Elliott’s sense of humour shines out from that photo! Thank you for posting about this Vic, I didn’t know anything about chromosomal imbalances before reading. x
I haven’t come across this before and so good that you know about yourself because of Elliot. Elliot sure has given so many so much and it’s lovely that he is surrounded by so much love. I’m off to share your post and contribute a tad bit to raising awareness. This is one of those situations where it’s helpful to be informed. #aNoviceMumCommentLuv