# Very rare chromosome abnormality and epilepsy...a siblings story



## Broody85

Hi everyone :thumbup:

So I was just lurking around (as you do :winkwink:) and thought I would introduce myself. Im thinking I may be able to help some of you :shrug:

So my little brother (who is not so little anymore, he is 21 in August) was born with an extreamely rare chromosome abnormality. We only know of 1 other person in the world to have it and it doesnt actually have a name its that rare. Basically there is a problem with his no. 17 chromosone (however not too much is known about it). 

A bit about him. Well when he was born he was like any other baby. However, his development was quite delayed and he didnt start to walk until about 18 month (dont quote me on that). It wasnt until he was about 2 when doctors did some investigations due to servere constipation that he was diognosed. Of course though, because it is so uncommon they couldnt really tell us what to expect. 

To cut a long story short he is mentally developmentally delayed (about age 5 years) he cant read or write but you can hold a decent convo with him. He attended SEN schools since he was 5 (he was kept back a year as he was born in august and it seemed the best thing for him). 

Medically he has a few issues, he developed epilepsie when he was young which he still suffers from now (bless him) he can go some days with no seizures, other days he can have 6-7. They result in him falling and he has had a few scary falls resulting in broken bones and stitches being needed in his head!!! but he is a very tough cookie! (he doesnt seem to feel pain, i have never seen him cry since he was a baby) He has a device fitted in his collar bone area which sends electrical signals to his brain to try and prevent them. Sorry i cant for the life of me remember the name of it but if anyones interested i will ask my mam tomorrow for you :thumbup: We think it has worked for him a bit. He is also on a lot of meds for them. Poor thing :hugs: He also has low muscle tone (hence the constipation...thats fine now tho). He dribbled quite a bit and a few years back he had 2 op's to tie his saliva glands. Out of the 4 he has had 3 tied and he still dribbles now...although there is a marked improvement. Thats about it medically. I know it may sound a lot to some people but personally i think he has done really well.

When he finished school (at 18) he went on to residential college, which he LOVES. He has really came on with his development since he has been there (because my mam isnt there to do everything for him, bless her). He is due to leave there this summer and at the moment were busy working with his social worker etc to find him a shared house and to arrange what he will spend his days doing. 

He is the most precious thing in my life and i love him to bits. He is so loving and if someone said to me they could make him "normal" tomorrow i really dont think i would want them to!!!

Sorry its turned out long but i just thought that with me being a sibling of a SEN child/person, him being such a rare case and also him being older that I may be able to offer you guys some insight into things that may be worrying you :hugs:


----------



## gde78

Thank you very much for your post. I have been worried how Ellie will react to Evie when she's old enough to understand everything. This has really helped put my mind at ease. Big hugs to your and to your family.


----------



## Broody85

Ahh your welcome. 

One piece of advice that i would maybe give you it to let your child "speak to someone" if it is offered. We were offered it but me and my older sister said no at the time. In a way i wish my parents had have just made us go as I think it would have helped us understand things more. Also me and my sister do sometimes feel a little hard done by (or as my mam would say, we have a chip on our shoulder haha) as so much time was spent on/with my brother. Which i know is inevitable but we never really seemed to have "special" time with out mam as once she got our bro into bed etc she would just want to chill. Totally understandable but all the same...

Sorry if this sounds patronising. I really dont mean it to but I found it quite hard to put into words


----------



## Lottie86

As the Mummy of a little one with a very rare chromosome abnormality and epilepsy this was a very interesting read :thumbup::thumbup: Like your little brother we know of only one other person in America with the same abnormality as Findlay and we are also aware of one LO who died from it :cry:


----------



## Broody85

Hiya, sorry about the slow reply. 

The only other person we know of my bros condition is also in America!

I did a little research a few weeks back about my brothers condition and discovered there are a few conditions similar but not exactly the same. it was really interesting to see.

How old is your little one? and how is he doing? i just had a look at your link to the fundraising site, he looks so cute! also i noticed he has a duplication of part of the long arm (q) on his chromosome 12. My bro has the same but on chromosome 17


----------

