Support thread for Chromosomal/Genetic testing and diagnoses

[glimmer]

Hey all,

My daughter, 15 months, is currently tested for genetic abnormalities, because she is not gaining weight (failure to thrive). It will be a few months before we get the initial results back but my understanding is that this might just be the first set of test and the we might be in for assessment over the next several years. Is anybody else interested in a support thread for those waiting for results, those who have gotten them back and are adjusting to the findings and those who are willing to share their stories and knowledge?!

Hi All!

Been to my 12 week scan today, and everything looks good so far, due 5th Nov!

Have told family now, only got told by my brother that we should have got the genetic testing done before and I didnt push enough for it (even though he was one of the people telling me there was nothing wrong with my DS and he will catch up) and if it was his child he would have done more.

Ah well you cant choose your family.

How's everyone doing? been quiet on here lately. xx

anon thats wonderful about the scan! Argh I can sympathise about the comments, they have no idea what they would do in your situation because they aren't in it!

anon, wondeful news

think everyone's off enjoying the sun, pretty good at the moment isn't it

Hi everyone hope you all enjoying the fab weather.Great news anon really hope its plain sailing for you.Just found out that dd scoliosis appointment has been bought forward to next tuesday at a local hospital with the london based consultant.For once i am impressed.So we shall see what he has to say.

Good luck growlybear for the appointment.

Had a letter through the post the other day from BCH about my sons 3 year check up for his cranio, in october! now thats service!! lol

Thanks anon feeling a bit nervous about this appointment as we will find out if scoliosis has turned from non structual to structual.Fantastic service we are experiancing:o:o

Happy Easter everybody!

Congrats on the scan, Anon.

Hope your appointment goes well, Growly.

Thanks glimmer hope you are doing ok and enjoying the sunshine.

No sunshine were I live :-) We just had 15cm of snow yesterday and it's freezing today. But we will be hunting outside anyway :-)
We are having a wonderfully relaxed day. (Did do a lot yesterday...)

Hunting Easter eggs. No other hunting here :-) Husband's vegan...

Snow .Mind you we had snow around this time last year.

wow to snow, don't your eggs get frozen we've had a lovely sunny day, dcs have been out in the garden for most of it

happy easter [busmile]

Update,

My DS has got into nursery, he started today only for an hour... and cried!

Really hoping tomorrow goes better as he is usually such a happy child and will 'talk' to anyone!

My mom reckons we shouldnt even be sending him as there is nothing wrong with him as far as she is concerned and we should pull him out so he doesnt get upset. Obviously I didnt listen!

God why do my family have to be so bloody unsupportive of everything I do?!!

How was everyones easter, I feel mega fat now, too much chocolate!

Update,

Got some results back, fragile x came back clear, also had a muscle enzyme measurement thingy done - normal! Chromosone 22 also came back normal.

Also downs syndrome testing from my blood screening/nuchal fold for the baby came back as a 1 in 100,000 chance too.

Ds seems to have settled into nursery a bit better as is now doing 3 hour days 3 times a week.

How's everyone doing?

Hi, I'm new to this thread but read it often. My DD2 has Mirocephaly with no neurological deficit and no developmental delay, we had some genetic tests done when she was a few months old and development was checked by paed up till she was 2.

At the last paed appt I mentioned a little mark on DD2's eye and that although I was certain it was there, after 2 visits to the local Eye hospital's A&E department I had been assured there wasnt. Paed agreed he could see something although it looked rather superficial.

DD2 was referred on to paed ophthalmologist, the 'superficial mark' turned out to be scarring to the cornea. Closer examination showed that she has limbal stem cell failure, vascularisation of the cornea, corneal swelling, conjuctiva cell migration and also the retina is not developed properly, and because of the thick scarring to DD2's right eye this is now severely amblyopic. Sadly both eyes are affected and eventually my beautiful baby girl will lose her sight.

The doctors have never seen a case like this and orginally thought it had been caused by a deletion or mutation of the PaX6 gene, similar to aniridia, however the tests have come back showing this is not the case. We saw the geneticist in clinic on Friday and he suggested chromosome sequencing and then if that comes back clear he would put her forward for some research thing coordinated by cambridge university where DD2 would be 'mapped out'?

Sorry it's so long, I'm not even sure what I want anyone to say? What is chromosome sequencing and has anyone else heard of this reseach thing?

I feel so desperately sad

hi noodles, sorry to hear about your dd2's vision. What support have you been offered, have you been put in touch with your local sensory impairment service, if not you may be able to self refer or get one of the drs to do it, they can be found usually under education but work with children from birth. There's also a few charities you may want to contact if you haven't already, look, nbcs and victa. Dd3 also has severe amblyopia in her left eye with no useful vision and not great vision in her right eye, there's a small amount of nerve damage, severe myopia and scarring on the retina and something else that I can never remember the name of! It is horrible to think of your child losing their vision but children are remarkably adaptable especially when they are young and there is help and support out there. There's a bit further up the thread that has links to some of the testing, and unique has some useful info worth looking at.

anon, pleased ds has settled at nursery and tests have come back low risk for the baby, bet november seems to be fast approaching now

glimmer, you still got snow?

waves to everyone

Thank you for your reply NinjaGoose, we have a QTVI involved and she visits once a fortnight, is already liaising with state nursery ready for September and has visited DD2's private nursery to offer advice and support although I had to ask to be referred. DD2 is also long sighted in one eye and short sighted in the other?? the hospital use the pictures to assess her vision and I can't remember the logmar figures but have had it explained as she would not be able to read the top line of the vision test board from 6 meters with her right eye but would possibly get the 3rd line down with her left. the doctors predict that within the next couple of years, because of the vascularisation/cell migration/scarring DD2's vision will be 'residual' and she will only be able to make out the outline of large objects if close enough, tell the difference between light and dark. I know children adapt and I keep telling myself that. DD2 is such a bright and happy child, she's loving and kind and she amazes me every single day, for that I am so incredibly grateful and when I read some of the threads on here I almost feel like a fraud for feeling so sad. After all DD2 IS ok, she is light sensitive and suffers pain but can wear sunglasses and we are managing her pain with steroids, dry eye treatment and calpol, there is no reason for her not to lead a full and happy life. I'm normally such a positive person and believe that something positive will always come from a negative situation but I just can't seem to pull myself together with this? some days I'm fine and throw myself into finding help for my DD2, and learning how to help her and understand her vision. Then I have days, like today, where I remember the first operation, the one that was to be so simple (peel a bit of skin off, patch it up, all fixed) and the doctor putting his head down, saying 'I think we need to have a chat', to hardly being able to breathe as I ask if DD2 is going blind and then the doctor's reply of 'well, she wont be totally blind, but in terms of residual vision then yes'. And the genetic tests, I want them and feel I owe it to DD2 and any future generation to get to tests done, but on the other hand I kinda don't want to know? When DD2 was born and we had the first tests done for the Microcephaly we feared that DD2 may not walk/talk and be seriously ill etc. If someone had said to us then, well developmentally she will be fine but she wont be able to see very well and will eventually be blind, other than that she will be healthy. I would've been relieved, so why do i feel so sad? Our situation could be so much worse.

no need to feel a fraud noodles, I think you need to read a few more threads, you'll struggle to find someone here who hasn't felt the same way you do right now just because our dcs may adapt easily doesn't we do

Hi Noodles,

Just wanted to send you an (((((hug)))))

Please dont feel like you are a fraud, I think you are well within your rights to feel sad cos this is happening to your beautiful DD, no-one wants any of this to happen to our children, but sadly it does and it's so hard getting support from family and friends who arent going through the same thing, and places like this are sometimes the only vent we have!

x

Hi everyone! And welcome Noodles, I see Ninja has already given you lots of great advice - I'd second Unique for any info relating to genetic tests, they've been brilliant with us! I feel like a fraud often too as my DS has no medical issues and is very healthy I should count myself lucky but it's hard not feel down sometimes!

Anon - great news about the tests, how are you feeling? Remind me when you are due?

We've been busy busy - DS was trying a buddy roamer last week so we have it on loan next week I'm very excited! We're going to see another SN school on Wednesday. I had a lovely chat with the Vice today and got a really nice feeling about her and the school (if that's poss in a 20 min conversation) We're also trying two more walkers this week but physio had warned us that the budget is extremely low and we may not get one and at £2k a bit out of our price range but if he really need one we'll have to beg borrow and steal :)

Anyway - hello to everyone else hope you are all well!

Hi 1980,

Im due Nov 5th, seems ages away, although may be a good thing as we went to a christening yesterday and DS was a nightmare in church, wouldnt keep still and then started crying/whinging. DH ended up taking him outside and all the in-laws were tutting at us and generally made me feel awful to the point I was almost crying. I really dont know how im gonna cope with a newborn too, unless Im housebound!! Not really sure if it's normal for a 2 and half year old or not cos you seem to question everything, whether its normal for their age or not.

Wow £2k is a lot of money, thats pretty awful that their budget doesnt allow for your DS. Hope wednesday goes well for you.

Sorry for the rant, should probably post somewhere else...

Don't be daft - here is for ranting! I'm going to have a rant about people doing their jobs soon but it'll be a long one so I need to do it from my computer!! My phone only allows me to type so many words :(

Nov will fly in and you'll cope grand - you just find a way and sometimes that means doing new things and stopping going places you used to go but that's ok too! I always felt bad not taking DS1 to mums and tots groups he was always asleep so when DS2 came along I made myself go but after a few weeks I realised - this is just too stressful, I don't enjoy it they don't enjoy it so what's the point. I also avoid shopping centres! Saves lots of money! But we have found a fantastic wetlands centre near to us - we go at least three times a week - it's always quiet, there's a lovely walk and soft play area, excellent facilities and the staff have got to know us which is great! Ignore your inlaws, it's a lot to expect any toddler to sit for a long time quietly! My DS makes lots of loud random noises - they'd have had a canary if we'd been there :) But I understand what you mean about the normal/SN behaviour. My DS hated his pram for a few months recently and I kept asking myself - is this normal or because of his GDD. But now I just think - it's him! He is who he is - we love him and we'll do anything to make him happy and as long as we're not upsetting or hurting anyone else let them look and or tut! I got a few looks recently carrying him on my back around Next when I had to brave the shops to choose a present! One mum was mortified when her son pointed and said loudly mum what's wrong with that wee boy that he's being carried like that :) I just smiled and said he's helping me do my weight training!

1980,

I stopped going to mums and tots groups cos I found them really hard to cope with, it just seemed full of people bragging about their childs achievements, oh my DS/DD can count to 20 now and they are only x age this must be cos I am so fantastic as a parent.

I do feel guilty about this but i'm constantly questioning myself whether its my fault that DS is delayed, maybe I dont do enough with him etc. The amount of disgusted looks I got when my DS wasnt walking too made me feel so sad, as it doesnt help that he looks much older, at the mo he can reach light switches but cant talk :(

Made me :) about next, the other day we were walking round a shopping centre and had both of DS's hands and he kept letting his knees buckle so we were basically dragging him!! I dont think next like us anyway, cos if DS is in his buggy he will reach out hands and grab EVERYTHING off racks and whilst I am putting some back, he goes for more, I just give up and move on, lol!

Hi, Not been on here for a while. Hope all is well with eveyone. Will do a catch up read later.

Just wondering how many of our kids are participating in the Deciphering Developmental Disorders Getetic research? (www.ddduk.org).

We're in :) x

We're in too Shaz - I was actually going to ask you awhile back because I'd noticed you mention a research project!