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?!

That sounds familiar!

Oops. Meant "about dx".

Hi all my daughter has rett syndromes.She also has epilepsy and scoliosis.I wish there had been something like this around ten years ago.My dd was tested for angelmans along with loads of other things.It really looked like that was what she had until she started to go into regression and lost the ability to do a lot of what she had learned.She is now in a wheelchair,her epilepsy has got worse recently and her scoliosis now needs looking at.She has trouble eating and suffers with aspirating on her food.In the main she is tube fed.She now wrings her hands a lot but can still play with toys although the hand wringing gets in the way.But apart from all this she loves life and loves to try anything-sailing,skiing swimming,horseriding.Oh and she has a wicked sence of humour.

Hi growlybear - welcome :)
I know a little bit about rett's from the research I've done on angelman! Your dd sounds like a little character, what age is she?
I'm finding the support on this thread and forum invaluable - hope you do to. Look forward to 'chatting' to you some more.

Welcome Growlybear and thanks for your intro.
How old is your daughter now? I know so little about the different syndromes. Do you expect the regression to continue? That must be incredibly difficult.
Many here don't have a diagnosis and find it very difficult to get the right support without one. Our dd got diagnosed in the last months and our case is a 'bit different' in the sense that it was a complete surprise to us and I am still in shock.

Hi everyone thanks for the welcome.This is a fantastic forumbut this thread is invaluable especially to people who are at the start of finding a diagnosis.I know for us it was a horrible time in our lives.We felt numb and it felt as though our lives were at a standstill.My heart goes out to you glimmer.Its never easy getting a dx.When we got our dd's it was done so bluntly and coldly.Im not sure that shock feeling ever totally goes it just gets easier to live with and in some ways makes you fight for everything that your child deserves.I also feel for those who never get a dx as im sure it makes things ever so difficult.My dd regression lasted a good few months but she lost everything.The ability to sit up,to feed to play.She started having seizures and she withdrew into herself.They were hard times.Now she can sit up she can play,she can laugh and she has the most cheeky smile.

Hi guys sorry I've been a bit quiet - poorly dh at home . Well saw consultant today - some of the genetic results have come back - she didn't say which ones but the one so far are all clear :) Not sure which are back but she is gonna write and let me know. She doesn't want to see ds for another 3 mths and she says she will write as and when other results come in. So I suppose its good news for now......but still no nearer dx. Hope you are all well x

Hi Everyone,

Great thread!!

I'm mum to Luuk, age 6 ( yesterday ) which in itsself is a miracle as we were told he wouldn't make it to birth!!

Everyone thought he had either Edwards or Patau Syndrome and just wouldn't make it. Well he didn't have either of those and he is still alive and kicking! (another).

He has undergone so many tests, FISH, Microarrays and so far they have come up with zilch.

He has: Exomphalos (liver only, repaired), 3 repaired heart defexts, extra bronchial tube, pierre robin with cleft of soft palate (repaired), very short and high palate requiring extensive surgery not yet done, liver, kidneys, stomach, heart, small and large intestine, pancreas, spleen and diphragm not in the right place and funny shapes, missing major arteries, extra arteries in kidneys,really wonky blood chemistry, hepatic artery which is curled arounnd on itsself at 560 degree angle, GERD, hypermobility syndrome, hypotonia, complex bilateral talipes, completely tube (button) fed, paralitic ileus, Sensory processing disorder,exaggerated gag reflex speech problems, astigmatism,terrible veins and no access left, keloid scarring and many little abnormal physical things. Cognitively he is doing really well and is on a parr with his peers. Above all he has a fantastic sense of humour and the sunniest personality which makes up for the rest.

If you made it through the list well done - and there is more would you believe........

We have been told he is completely unique - even his abnormalities are abnormal!

The last we heard was that geneticist thought it was a single gene problem. However haven't seenthe geneticist for about 2 years - think I should contact him and ask if he's planning on reviewing?

Anyway that's us. Hello and sorry for the epic!! xx

just a quickie -

Good news on the results farming but more waiting....

Hi Shaz - that's a list and a half. Makes you realise how much there must still be to learn about genetics when they haven't been able to find a cause yet! Do you think about getting a dx much or are you too busy just getting on with it? Sorry if that's a stupid question!

Growlybear,I really sympathise, my DD also regressed and was tested for Rett (negative but tests for similar conditions still not all back) the regression itself and the neuro appointments are really traumatic.

1980- I do think about it all the time mainly because as it is we don't know if Luuk is life limited or not! Would be good to know he isn't although the chances of him getting infections is quite high.

Everytime I read something about a conditiion and some of it fits, I go researching and sometimes email the geneticist to ask if he's been tested for it - usually he has!! This is the only contact we've had with genetics in 2 years though. Am going to email to ask if he's been discharged from them.

I think that's the bit that most people don't understand - when I say I'm exhausted, I'm mentally exhausted because my brain ins workingall the time. if I'm not thinking about what it could be, I'm thinking about calories, volume, tube feeds ( Luuk has real food in his tube)...........

xx

1980, dd3 will be 5 next month and is in ms reception with a hearing impairment base at the moment, we're after a ss that's out of borough. We had a bit of a fight to get the LEA to agree to the ss assessing her for a place so am really nervous about whether they'll cough up for a place there or not. The ss have offered her a place!!!!!! which is fantastic, it's a fab school and all the staff we saw were lovely, I was worried they'd say they couldn't meet her needs. The way the school system works is a bit of a minefield, that's why this board is so useful!

glimmer, dd3's syndrome is the same, just unlucky she got it, so it was not going to be passed on but I still got the 'women of your age' speech from the geneticist, as it was I found the pregnancy quite stressful. I went into it with my eyes fully open to the risks, but that was before hormones struck so couldn't really fully relax, scans were the worst for me even though I got extra ones and none of them showed anything I was always convinced they would. It's been worth it though ds2 is gorgeous, not that I'm biased or anything

stillin, hope you get something soon, the waiting's tough isn't it! May be it's a dh thing, mine was in the denial phase at the beginning.

growlybear, hello Do you think the hand wringing is a sensory thing? Dd3 pulls her hair out and we're trying to work out why at the moment.

farming, hope the letter turns up soon

shaz, hello sounds like Luuk's doing really well, was it your thread about him doing well on real food?

fanjo, how's your dd doing? She was drawing again I think the last I read?

well, we got our diagnosis this morning, a letter dropped through the letterbox which said she has a small deletion on chromosome 9, which is the cause of her issues.

I then called to make the appointment to discuss this/find out the implications and was given one for 7th April, wish they hadn't told us until nearer the time.

Trying to take it all in, and not google, because it's scary.

She is doing well anyway, still drawing and trying to speak.

oh fanjo, why do they have to do that, leave you hanging for weeks!! Still drawing and trying to speak is good

Shaz - I completely understand what you mean about mentally exhausted, I'm only 6 months into the process and already starting to feel that way. So you have my sympathies to be 6 years on and no answers on top of the day to day care of your DS.

Bigcar - Fantastic that you've got the place, hope she loves it!

Fanjo - Good news that you finally know and of course great news that DD is starting to head in the right direction again! Crap that you have so long to wait to see the geneticist, I hope the next few months don't drag too much.

Glimmer - I've pm'd you, hope you don't mind.

Hi all,fanjo i know how this feels but try to just take one day at a time.Unfotunately everything in this game seems to take an age and its not easy because we just want to know.Its fantastic that your dd is doing well and trying to speak am sure she is a georgeous girl just like my dd.Hold on in there.

Shaz know what the exhausted feeling feels like my head is spinning today due to 2 hours physio appointment as my dd scoliosis is starting to get worse.Now we will be having another truck load of equipment.

Bigcar i think that the hand wringing could be sensory for the part but it is also something that rett girls cant help but do.Its classed as an involuntary movement.We are trying out splinting for short bursts to try and break the habit a bit.DDfinds it relaxing as her body isnt fighting to do the hand wringing all the time and she can concentrate better.

Thanks, it has indeed been a long 2 years

Hi all.

Good to come here and there are so many new posts! And even a diagnosis! I have a bunch of deadlines coming up and since I wasn't very productive in the last weeks, I sort of have to finish things right now if I want to or not....

Fanjo - I am not sure how much you want to know, but Unique has a leaflet on deletions on chromosome 9:

www.rarechromo.org/forum/DisordersLeaflets.asp

In my case their leaflet was more helpful than the geneticist...

Okay have to run.
Quick wave to everybody.

Fanjo - I just had a quick look at deletions on 9 and was positively surprised by the info in the leaflet. I would call it "very positive" . DD's problem is also linked to 9, this is why I was interested.

Sport - thanks for your pm. Totally get it and will reply to you as soon as deadlines over.

Yes, 9 seems a better one to have than.some, not that any are good.

Am worried she has some undiagnosed heart problem though..

thanks growlybear, that's interesting, I'll ask on the support group and see if anyone else has this issue.

glimmer, hope you get everything sorted

fanjo, I'm sure that's something they'll pick up on next visit. I would have thought anything serious would already have been picked up?

Hi all

Just wanted to add my belated support to the thread. The testing takes so long and when you and DH/DP have to have tests too it seems to amplify the issues. Then it takes so long and the experts, however wonderful, may not even know what they're looking for.

There's the whole, should we get a DX issue? DC will be the same with or without a DX but will it help with a prognosis or with others understanding etc?

For what it's worth we went through all this last year. Our DS has a diagnosis (microdeletion) but there is no other recorded case and nobody knows what the missing genes do, so we just have to plod on. Unique is fab, but am also pleased that we are helping professionals so other babies with similar issues can be tested for the same, we've agreed to a number of studies and if our experiences can help other people on mumsnet, all the better :)

Hello, my 6.5 year old son has had many tests since 5months old. Genetic tests were fine. He has diabetes insipidus (not sugar diabetes, its "water diabetes) , growth hormone deficiency (starts daily injections friday 18th and im dreading it!) and just had verbal diagnosis of aspergers. Hospitals have ruled our lives for years and as you all already know its very stressful and upsetting for us parents. Great to meet people who know what im going through

Isn't it amazing the the strength we all find to cope with all the medical stuff .At one time we were normal(if there is such a thing)parents the next minute we are thrown into a totally differant world.Am sure brandy that you will find the strength to do these injections.I have had to learn how to change my daughters feeding tube.When i first saw it i said to them you have got to be kidding.But at the end of the day my dd needs to be fed and thats all i think of.Then there is the chest physio and epilepsy and therapy.Its amazing how we just keep going.

Fanjo, great that you have a diagnosis.GRRRR to the docs for not having the sense to let you knwo nearer the appointment date - insensitive gits!

Bigcar - Yip Luuk is th eone having real food!!

Growlybear - How right you are. The obscure becomes the norm. You find yourself talking to folks about your little one having been in ITU and explaining that it really wasn't a big emergency, he just needed some help with his breathing ( likening it to needing a plaster for a cut). Then you realise thet maybe your life is just a little bit different!!