Blood tests back.....and, Jack has a genetic disorder, anyone help?

[caitlinnjacksmummy]

Hi, well Jack has had bloods bk, apparently he has a genetic disorder and will b dependant on me for life, poor little man he has something like, chromosome 6 has joined onto chromosome 12 so therefore chromosome 6 has lost some of it's qualities, resulting in Jack's damage to brain, epilepsy, GDD and hypotonia.....very upset. I hd bloods taken and Jack again, Jack's dad has to be tested too as we need to know if it is me or Jack's dad together that caused it, or if it is either one of us, but I already have a dd to diff partnr, so hoping this means I am not carrying it, this is just so hard, anyone else have experience of this? Further investigations have to be done as they do not know too much about this disorder, grateful for yr input

sorry don't know anything relevant, but just wanted to say sorry you had such upsetting news.

Thanku, hope someone cn help me out....evrything just seems to be gttn worse

another link to a support group here:-

www.cafamily.org.uk/rda-uk.html

www.cafamily.org.uk/rda-uk.html

I remember getting the results of my sons blood tests. The doc had pretty much ruled out antyhing being found as he didnt think they would show anything- they did- Williams syndrome which is chromosome 7. He also has a little extra deviation thrown in for good measure and this is where the seizures came in....!!!

We were both tested and it showed to just be one of those things.....you know what your dealing with now and that can ony help in the long run?

Keep talking X

again im not clued up on this myself but i hope you are ok and get all the help you deserve to look after your little boy

this site has been huge help to me even if someone doesnt fully understand they listen and they give words of encouragement so were all here if you want to talk xx

this may help

HI, I'm sorry to hear your news.

I have no experience in the particular disorder your son has but do understand how you must be feeling right now.

We got a diagnosis of a genetic disorder for our Ds at the end of last year and it was a hellish time.

On the positive side the help and information has increased ten fold since we got the diagnosis. We see the right doctors now and therapists, and actually things are better, (as long as we don't think too far ahead).

Myself and DH were tested and our chromosomes were completely normal. It was just one of those things. Try not to beat yourself up about it.

Take care, Caroline.x

Thanks guys, I feel like I have bn hit by a sledgehammer...And right now I really need people to speak to, and u's are all such a support

Hi, also wanted to post as I'm sure it's a tough time. No idea of what you're going through as my DD is completely different, but just wanted to be supportive. Hopefully it will help to know what the problem is. to your wee man too!

My dd was diagnosed with a genetic condition as a baby. She has part of a chromosome missing. It came completely out of the blue as we weren't aware she had any difficulties at all at that stage. We rushed home and looked for all the info we could find via the internet. It was completely devastating. We read she would have retardation and all kinds of medical problems were listed. We cried for about a week. Then we just got on with things. As she was diagnosed so early we had early intervention from physio, OT, portage, etc. Now she's 5 and just finishing her reception year at school. She loves it and is doing well(knows all her letter sounds, starting to read, knows numbers, is starting to add/subtract)She has an amazing memory and is always reminding me to do things. She is v imaginative and can make up her own stories. She does have some problems with speech and hypotonia, for example. She has some health problems too, which are manageable.She had some delays reaching her milestones and is immature in some ways but she's a delight and its not at all like we feared initially. I know this is only our experience but genetics are very much about individuals and very hard to predict. I know its so hard but be optimistic and take the future as it comes.Best wishes.

Hi cj mummy, sorry you are feeling upset about the diagnosis. You've had so much to deal with, and now this.
I hope that, on the positive side, it means you can find other parents with children with a similar chromosone issue. I met someone at Gt Ormond St the other day whose child has such a rare problem, he's the only child in the UK. Yet because she has a diagnosis, she could find a specific US-based support group and is getting much support from them.
DD apparently 'looks like' she has a chromosone problem (dysmorphic features) and has had various genetic tests but so far they haven't found the source of her problems. DD is having more blood taken next week so they can send some of her DNA to Holland where they're researching some rare defect.

Sorry to hear your news.

I am not at all familiar with your DS's dx, but hope you can get some answers soon.

Sorry to hear your difficult news CJM. I cannot help with any knowledge, but just want to say take your time and look after yourselves. Take care, love Magso.

Thanks everyone, have tears in my eyes reading yr messages...I just don't even know how I feel right now, I actually woke this morning feeling like it had been a dream and then realised it wasn't...was like being told all over again, the bloods we had taken yesterday are for further investigations into it as tey do not know much about it and I am soo afraid what they will show up

Sorry for withdrawn post - it was nothing to do with Jack (I asked for it to be withdrawn).

If you need any help interpreting the results please shout, I used to work in a very closely related area.

Did they tell you when the results will come back- they can take ages (too long to be on tenterhooks for iyswim).

Thanku, a do feel like shit wats yr story with yr LO fiofio? Sorry but not got a good memory lol

Sorry getbackinyurtjimjams a dont know wat u mean? You asked for my post to be withdrwn?

No- my earlier post was withdrawn (20:58 last night)- at my request - because I said something about myself that I wanted withdrawn. I didn't want you to think that I'd said something dodgy or something about you.

Sorry for the confusion and I hope you get more answers sooon.