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?!

I think it will be an MRI yes. Waiting for an appointment date but I think it will be soon.

The nursery stuff sounds really difficult... the last thing you want with a child who is more vulnerable or has extra needs is to feel you have to force a nursery to take them .

Thanks 1980!

The paed was very non-committal and gave absolutely nothing away, even when asked. I probed and asked if he thought there could be a chromosomal issue and he said it's quite possible. He also said we may not ever get to the bottom of it in which case we'd just need to go down the therapy route...

Muscular dystrophy. This is the one that scares me the most to be honest. I didn't even ask about this but of course have since come home and googled... The degenerative conditions just sound so frightening.

How is DS doing at 2.8? I know they're all so different but it's useful to hear how other little ones have progressed over time. What is genome sequencing?

crazycat our MRI is booked for october we will have to hold hands! It is helpful talking to people in the same boat and if you have any groups for children with SN locally (children's centres often have them) I would recommend going, mine has been great. I stayed away from all things SN for aaaages as didn't feel we belonged (denial!) but the needs of the kids vary so much and its been a real lifeline.

I keep looking up conditions trying to find what they are looking for it does no good really but is impossible not to do. Agree about the degenerative conditions, there are always variations though.

As for nurseries etc most will not be like the ones we've said about, my dd's playgroup and the school she is going to be at in sept have both been great, really supportive and going out of their way to work with the other professionals involved in dd's care.

Definitely. I am so nervous about the MRI.

How did you find out about local groups? Google, HV? We are in south London at the moment but will be in Surrey near Guildford as soon as the house is sold...

At 2.8 his progress is still very slow but on a positive he is making progress. He can now finger feed a little and is trying to hold his beaker, he definitely says hi ya, he can get himself up from lying down, he can weight bear and stand leaning against something for a long time, he can roll to get something he wants, this week he looks like he's trying to bum shuffle, he can do mid line play, lift things out of boxes, get things hidden under boxes/bits of cloth, his tracking and concentration have improved and he's got some joint attention. He couldn't do any of these things last year and I was thinking he never would. His arms remain a big problem - he wont take weight on them so wont push himself up on his tummy, save himself if he falls over or let you use his arms to play with toys!

Genome sequencing is basically writing out his whole genetic code to look for any tiny problems - I understand it's the most advanced genetic testing currently available.

For anyone interested there's a really interesting genetics article in last Wednesdays Times.

Agree with Used2 about SN playgroup - we love ours too! Our social worker found ours for us, but you could try phoning your local SureStart or any nearby SN schools.

Used2 - I so wanted him in a nursery for a few days for the whole social interaction and being around other little ones but I'd rather him not go than have any worries about him.

Well I work for a similar service so found ot through work but your local children's centre would have info. The HV should also know and would be able to tell you where your local childrens centre is too. We have a family information service where I live and they have a list of groups online but not sure if every area has one.

My dd had an MRI at 2 weeks old and it was ok. She didn't need anything for it as she slept but obviously the next one will be impossible to do like that as she is now a very active nearly five year old. have they said what they will do for your DS? It is a scary thought but he will be ok, it isn't too long a procedure I don't think.

1980 I so understand that. And the nurseries being difficult about it are obviously ignorant and missing out. So much better to wait and have somewhere that will enefit your DS and possibly be a support to you.

2 weeks old! Goodness... although I guess they are so sleepy at that age perhaps it's easier...

Don't know what they'll do yet for DS. He's very alert now he's 5 months. I doubt I could get him to sleep and keep him asleep through it so does that mean sedation?

I think I will venture back to baby clinic on Monday while my older DD is at nursery and see the HV. I know nothing about support services in the area or where the nearest children's centre is! Although I suspect there's one within walking distance since we're in such an urban area.

I'll seek out that genetics article, thanks 1980. I can't seem to stop reading stuff at the moment. I'm in the phase of wanting as much input as I can get so I feel a bit informed.

I would imagine you have a children's centre nearby tbh and highly recommend them for support, they can point you in the right direction at the very least.

My dd will be having aneasthetic for her MRI but they may not need to do that for a baby, she had sedation for her eeg and they used melatonin which is more natural and shorter lasting. At two weeks they did something called cuddle and wrap, I fed her loads, wrapped her in a blanket tightly with the nurse and then she slept through it! It was quite noisy but I guess when they are tiny they sleep through anything. I stayed with ehr throughout it.

Just bumping! :)

Hope everyone is well!

hello, 1980sport, can I just ask you a question about genome testing?

Ds has had bloodtests, for genetic testing which all came back clear (karotype?). Does that mean that there is no point in doing stuff like genome testing, because the cause of ds's problem's are not chromosomal/genetic? I only ask because his paed has just ordered a raft of tests, and is trying to bump his mri, but when they first looked at him, they pointed at things like ds's flat bridge of nose and drooping eyelids and seemed to think that they pointed to a genetic cause (although they are very subtle).

BTW talking about timescale of tests, with ds they fast tracked his genetics results through, so they came back in a matter of weeks rather than the 4 months they originally said, because they were concerned that he had spinal muscular atrophy. I think that if they are concerned that it is something like this (ie degenerative) then they try to get the results faster - his tests were, fortunately clear.

Hi - I'm going to put a link up to the Unique little yellow book and the microarray test but basically -

The karyotype looks for large obvious deletions and chromosome abnormalities for example Downs Syndrome would show up as there is a full additional chromosome. (My DS's karyotype was also normal) I think the karyotype will eventually become obsolete as the microarray becomes more available.

The microarray looks for deletions and duplications under a high powered microscope. It can see tiny tiny faults but can't find mutations or translocations. (Again my DS's was normal)

Genome testing - which I think you mean genome coding will basically involve writing out the whole gene code of that person and gives the best chance of finding a genetic fault as it will find any or all of the problems.

My DS's genetic features are very mild but despite all his genetic tests being clear so far they are enough for the geneticist to be convinced that a chromosome abnormality is the cause, they just haven't found it yet. This of course is backed up by a normal MRI brain scan which shows no damage - but of course can't show if the brain is functioning properly which in our case we know it obviously isn't.

The best analogy I've heard is thinking of your DS as a book - each chromosome represents a chapter - the karotype looks for missing chapters/paragraphs or additional chapters/paragraphs. The microarray looks for missing words or additional words but can't see if words have been swapped round or are spelt wrong - which would mean that bit no longer makes sense!
The gene coding means someone is going to write out the whole book again and try and find possibly a bit missing from a letter or two letters swapped round!
I hope this is what you are after and Ive not waffled too much!!
www.rarechromo.org/fpdl/LittleYellowBook.pdf
www.rarechromo.org/files/Array%20CGH%20QFN.pdf

I think once your MRI comes back if it is clear then the Docs will be pretty certain that there is a genetic cause to your DS's problems! Your MRI is pretty soon isn't it?

Thankyou so much for all that, 1980Sport.

That all makes sense, and I will read those links. I suppose they have to follow a process, that is akin to tweaking the focus on a microspcope, and the further they look into things, hopefully the clearer they get.

Yes I think so - and it's such a fast moving field the chances of finding a DX is increasing daily (I hope).

I think when they first did the gene coding in the late nineties it cost millions of dollars it now costs about $7,000!

Didn't see the post before mine, 1980sport, ds's MRI was on a non urgent list, and when I last phoned to check they said probably around Xmas(they only do 3 children a month here) . When paed saw ds last week he said he wanted to push for it to be sooner, so hopefully we won't have to wait too much longer. I thought we were completely away from the world of genetic conditions, but from what you say, maybe not.

Hopefully you'll get it done a good bit before Xmas! But my understanding is if they've ruled out 'brain damage/abnormality' as a cause for the problems the only cause can be genetic. I was surprised at how unknowkedgeable our Dev Paed was/is regarding the genetics field. Once the MRI and obvious genetic testing had been done - fragile x, muscular dystrophy she basically said that's it, you're now unlikely to get a DX - cue tears from me and begging from DH. She rather reluctantly agreed to refer us to a geneticist. Within 10 minutes of seeing us, he pointed out wide spaced teeth, snub nose, prominent jaw and facial dimorphism has obvious genetic indicators - the Paed had never even mentioned these! At a later review apt with the Paed we mentioned microarray - she had never even heard of it! The geneticist said an untrained eye would not identify DS's features!

1980Sport - enjoyed your explanation chromosomes as really struggling to remember anything from a level biology (well it was 20 years a while a go!).

Got a letter yesterday about Ds age 5's tests. His MRI was "entirely normal" - both I and dh feel bad that we are surprised by this. They did find a duplication on short arm of x chromosome. They want both dh and me to have blood test to see if this a benign variant that we have passed on or an explanation for his delays etc.

Does anyone know how a duplication on a chromosome actually causes the problems? i had thought that such a duplication would cause the brain to form/structure abnormally causing learning difficulties, asd etc. But ds's MRI is normal. So how does a dodgy chromosome cause problems? I've read wikipedia articles etc but they dont explain this.

The only x-linked conditions I've heard of are fragile x and ATRX but he doesn't have the physical characteristics for either.

Scary stuff but feeling excited that we might one day have a dx.

Its me Sport with a name change!! Hi Crunchyside - I stole your explanation and modified it slightly. You were the first person who helped me really understand (even with an A-Level in Biology)

I'm linking this article - although it refers to the testing of Angelman, is has been one of the clearest pieces I have read on how some mutations/deletions can have detrimental impact while others do not www.cureangelman.org/what-testing101.html especially the bit at the bottom where the sentences change their meaning.

I think Crunchy that a duplication just like a deletion or mutation can cause the brain not to function properly, as in the instructions aren't being processed properly even though the structure/form is ok especially if it is a small duplication. With DS his MRI is fine too - but the Paed was quick to point out even though it is structurally sound we don't actually know how its working, the Geneticist described it to us as the problem (the chromosome problem - whatever it may be) is making it difficult for the brain to get out of 2nd gear so that is why the delays are occurring! Hope you are well, and positive news that you might be nearing the end of your journey to finding a dx - its a strange feeling, wanting it, not wanting it, hoping its not something too bad..!

Hi there,

I am new to this so please forgive.
My son is nearly 1yr old, fed continuously via tube over 18hrs per day, centrally hypotonic, does not hold his head up yet, severely myopic, has glasses and I am at the end of my sanity!!! We have been in Chelwest for most of his life, have now been sent home with the tube feeding and he is being seen by all and sundry. However, can anyone give me some idea as to how severe this can be, will he walk?? Would just like to hear your thoughts although feel a bit rude for intruding ........

Don't feel rude - welcome! We all kind of pop in and out! But we try and keep this thread up near the top for anyone new to see. Theres also a support thread about for those on the bumpy road to a diagnosis. There's a bit of cross over between posters but do introduce yourself there as well.

I think its very difficult to tell how severe it will be! What tests has he had done to date or are they giving you any indication of what the thinking might be regarding the cause?

We were told that if a child sits independently by 2 then they will have the ability to walk. What sort of therapies is he having - Physio? OT? Regular Physio and OT will give him the best chance of reaching his milestones. I'll post links to a few good books tomorrow.

There is also a project run by the Genetic Alliance called Syndromes without a name for families with children with undiagnosed conditions. You can find it on Facebook or email [email protected] most of the members have reached a stage where it is believed their children's problems are caused by a genetic abnormality, it might not be applicable to your situation but just thought I'd let you know about it anyway!

mrssouth

here is the support thread for those of us waiting for a diagnosis. My ds (14 months) has hypotonia, and some feeding issues (although they don't sound as severe as your ds's). Has your ds had a videofluorscopy?

sorry, I forgot to say hello!

My manners are appalling due to lack of sleep!

Hello, hope everyone is getting on ok.

has anyone on here pushed for further genetic testing, because they suspect a particular syndrome? I have been googling (I know, I know...) and there are just a couple of things about ds, that just jump out to me. I know that his paed has noticed a couple of things, but his initial genetic blood tests came back all clear, and now we are waiting for an MRI. I just wondered if it is worth mentioning my concerns, or whether i will come across as an overgoogling, neurotic nightmare, and really the best thing is to wait fr the MRI, and see what happens then.