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?!

Sport - yes that's right. Although we've decided to delay making a decision about more dc for another year as ds is really quite big (close to 40 lbs) and not walking yet. I really could not be pregnant and do all the lifting and carrying that I do now.

I'm a bit slow unpa1dcar3r I'm only just getting your name now! That was a lovely post, it made me laugh and gave me a lot of hope for the future! OT told us this week that ds has a very limited capacity to learn and I thought he 'learns' when he wants to - arm over his mouth when he's had enough dinner but mouth wide open the minute I walk to the dessert cupboard, plays happily until I lift ds2 then arms up in the air and moans to be lifted too etc.

Pjs - I know what you mean about the lifting. Ds is about 30lbs I think and my back is wrecked already!

Yes Sport there is always hope. I never would've thought at diagnosis that my boys would be achieving the things they do now.
They always surprise us with what they do actually know.
My younger son hears everything. At school his teachers decided to talk in welsh when they didn't want him to know what they were saying. However, within 2 months even that didn't work cos he understood welsh! We've lived here 7 yrs and even I can't understand it!
They have a great understanding of their language (English in this case) but find it difficult to express themselves through language, often using one word sentences. Such as park/dog/ball (I went to the park, saw a dog who chased the ball). However younger son has palilalia which means he repeats himself literally 10000's of times, elder son has more echolalia which means he echoes what we say (usually in a funny voice!!!)
A lot of things we couldn't contemplate when they were younger, e.g. a trip to the cinema but now they go quite happily.
They are polite, charming and caring- at least to others, but then again aren't all kids like that? Monsters for mum n dad but little angels for others!
wink

Hi, i'm new here. I have 3 boys 2 of which we "think" have an undiagnosed genetic condition.They are at different ends of the scale, my 12 year old has some learning difficulties, ataxia, fine and gross motor problems and very bendy. My youngest (10) is a full time w/c user, sld, very unclear speech,incontinent, hypotonia and was born with bilateral talipes.
There are 3 other children in the family on the maternal side that have undiagnosed conditions. All the children are different BUT i think they all have similar problems, learning difficulties, hypotonia, ataxia and speech difficulties.
My youngest has had years of genetic tests, the latest being the CGH array, this picked up a duplation on chromosome 8 but i have the same duplication so it is thought not to be the cause!! He had an MRI at 18 months which was normal but another at 9 found moderate cerebella atrophy, this still doesn't tell us anything!!
We are now on a lot of research projects and will get the latest new tests as they become available.
It is thought to be x linked.
I feel we need to know as a family, the implications for the unaffected children are unclear, my eldest son has already asked me if he will have a child with special needs!! I can't answer him, if it is x linked he will be ok but that's as much as i can tell him.
Knowing will also give us a place to belong, it wont cure them, or help them in any way really as obviously they differ so much now.
I don't know how i would feel now if we linked all of the children and found out what it is, i have been searching for 10 years now. I understand WHY it is so difficult to diagnose but still struggle to get my head round the fact that you can have so much wrong and they haven't a clue :(

ive been told that i may never get a dx for my ds2

Hi Toerag.
I assume your boys have been tested for the fragile x syndrome n it's come back clear?
As far as the X in that condition goes, the count the number of repeats in a certain length of DNA
If you have 0-50 odd you're ok, not a carrier, just 'normal'.
If you have between 50 n 200 odd you are a carrier. And anything above this means you have the full mutation and will be affected.

If you have carrier status then there is a good likelihood that you will pass it on to your children. However, men cannot give it to a son as they pass on the Y chromosome.
Men will either makes daughters carriers or full mutation.
Women have a 50/50 chance of passing on the X to either boy or girl (although this %age increases with each generation, so my daughters would've had a 90% chance of passing it on if they were carriers)

It makes no odds whether you have say 100 repeats or 190 repeats, it won't mean that you're more of a carrier if you have 190.
Now they are discovering the effects on carrier mothers (which I am), such as problems with maths and lots of other weird and wonderful quirks.

I would suggest getting your other children tested. Now I had a bit of a battle here, they said not 'til they're 16 cos of their human rights etc. I argued that i also had HR's and needed to know if my girls were likely to have children like my boys- after all they could have got pregnant at 15 (although I would've killed em lol) and not known if their child would be disabled or not.

I wonder if all X linked abnormalities have the same criteria for passing it on. I don't know. But it could be similar.

Both boys have been tested for fragile x right at the begining along with all the other usual ones.
They can't find anything so there is no point testing my eldest until they find something (if they ever do)
We have recently gone on an ataxia research study, my middle son will also have the cgh array on the study, maybe they can compare both cgh results then!!! We are also on the GOLD study, they are looking for genes on the x chromosome that cause learning difficulties, we have been on that one for about 5 years now and they haven't found anything yet, although they have found some genes just not the ones that affect us :-(

How frustrating for you Toerag.
I once heard said that for all the recognised genetic problems there will be another 300 unrecognised.
I do feel that many X linked disabilities have some similar traits e.g with behaviour/the way they learn etc.
I do hope you get something soon, always better to know I think!
Have you recognised any similar things with your boys?
like they look similar or have certain similar tendencies?
Maybe if so you could try to work out better for yourselves what makes them tick or tock.

What I mean is I know if you creep up on my boys you'll get a punch in the mouth and some suitably effective swear words thrown in. Although they differ in some ways too despite both having FXS.

Thanks, i find it sooooooo frustrating but after so long waiting i do manage to put it to the back of my mind most of the time!! Every now and then it rears it's ugly head LOL and i end up trawling the net for hours on end looking for something..anything, pretty much a waste of time really because if the experts can't find it am i going to?!!! but i have to look.
The boys have loads of similarities but am never sure if it's because they are brother traits or faulty gene traits!!
Who knows eh, maybe one day
Oh did you see that pig fly past my window LOL X

Lol yeah toerag i saw it; it was my ex husband! :)

LOL love it, i got one of them as well

We got a crushing diagnosis way earlier than we assumed. Any advice on how to survive the first days and weeks?

Oh glimmer - that was quick. Sorry I have no proper advice, just be kind to yourself and take some time to get your head around it all!

glimmer - sorry to hear about your dx - I don't have much advice but just wanted to send hugs and support, having been through it recently. If I were you i'd avoid google, and don't feel you have to rush into telling everybody you know, seek out other parents in same position and don't take as read what the experts say re prognosis. I found unique helpful in arranging contact with other families. Does your dx have a name or is it just a series of co-ordinates like mine? Is it based on blood tests or the doctor's opinion? Don't feel you have to share if you're not ready... you can PM me if you'd rather although I might not be online for much longer, take care

Hi Glimmer
Would you be happy to say what the diagnosis is?
All I can say is remember your child is still your child first, the same as before diagnosis.
Learn what you can about the condition and perhaps see if there is a support group specifically for your childs condition.

When I got my eldest's results back, I rang the NAS and they gave me contact details for the Fragile X Society. To be fair they were a life line and possibly a life saver in those darkest hours; someone on the end of the phone who knew Exactly what I was going through and was able to give hope and advice for the future.

glimmer, I agree with those saying find a support group asap if you can, they can be an absolute sanity saver. A lot have yahoo groups, it'd be a good place to start looking. And of course we are here if you want to talk to us.

Oh glimmer I'm so sorry the news wasn't good. We have a diagnosis for ds2 and I can clearly remember that dreadful, shocking feeling. Support groups are a fantastic source of info and emotional support. Also, be careful of any googling.

Take care.

Thanks for your responses. Today is a little better. The dx is very rare (just numbers), so while I don't want to post it for privacy reasons, it's unlikely any of you has family members with it. It's from the micro-array, so there are no doubts. It's mosaics, so I think nobody wants to come up with a diagnosis.

Unique has been helpful and I ask everybody foremost for linking me with support groups, but it this takes time to get my info to them. I know she will be just my little girl in a while, but I am so insecure right now and don't want to break her (and on top of it she's sick and has high fever).

It changes your whole outlook on your life, doesn't it? Nothing you thought you would do is any longer possible. Maybe it's not for the worse, but it certainly needs adjusting.

Luckily it's so rare, that googling is impossible :-) But - also no specific support groups. That's fine, I think a lot I am going through emotionally is not specific to the condition at all.
What is NAS, please?

Glad today is a little better. If it is a rare condition are the medics themselves able to give you much information as to what to expect?

It is important to allow yourself time to grieve whilst coming to terms with all of this.

You are so right about it changing your perspective but life will feel normal again. Just a different normal.

I think the professionals will be very vague and not make a prognosis. Unique has a leaflet about the condition, and it sais it takes 10 years before it becomes clear what is possible for a specific individuum.

I also think the medics will drag us into doing more and more tests (we will pay for), so will be careful about this.

I think the professionals will be very vague and not make a prognosis. Unique has a leaflet about the condition, and it sais it takes 10 years before it becomes clear what is possible for a specific individuum.

I also think the medics will drag us into doing more and more tests (we will pay for), so will be careful about this.

Hi Glimmer Sorry I should've been specific- my life seems full of acronyms since I had the boys! National Autistic Society (NAS), they thought my eldest had autism at first so that's why they checked for FXS. That's also why I contacted them first as it was the only port of call to my knowledge then. Hadn't even heard of Fragile X never mind that they had their own (incredibly fantastic) society!

The condition my two have also has mosaics. I don't completely understand it to be honest. Mine are not mosaic, but full mutation. Think mosaic is somewhere in between- sort of!

good to hear today is better. It will get easier, but for now just concentrate on getting through each day at a time and concentrate on what you can do for your dd now, try not to dwell on the future too much.

'It changes your whole outlook on your life, doesn't it? Nothing you thought you would do is any longer possible. Maybe it's not for the worse, but it certainly needs adjusting.' This is true, the future may well be different and you need to give yourself time to grieve for that but you will adjust as many of us here have and the 'different' will become the 'everyday' and the 'usual'.

she's still your lovely little girl, just now you know why things are happening, I found getting support, referrals, therapy etc easier once we got dd3s dx, which incidentally is also a mosaic syndrome.

Hi bigcar - your post above 'the different will become the everyday and the usual' has been a help to me, thanks.

We got some results back - a negative for the suspected syndrome. But only a negative for the most common form of this syndrome, next stage is the test for the rarer form, if that proves negative too, then possible clinical dx or testing for conditions which mimic this syndrome! More waiting!

How's things today glimmer?