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?!

Thanks ninja just had a peek and yes thats where she would have been had they plotted it! So I guess to be on the 0.4th at three was worrying. But she is now near 2nd so maybe there has been some catch up. She is on 75th for height and 90th for weight (another issue!) so I can see the worry and have been laying awake in the night thinking about it all and that I so wish I was "just" faced with her medical issues from the genetic condition and how sad I was even with the assumption she would develope normally.

But today it is sunny and I am able to see it all a bit better, the thing is just because a piece of paper says she has learning difficulties and microcephaly doesn't change the fact that she has made so much progress s and l wise recently so I need to TRY and focus on that. Which is fine in the day but at night....!

Off to a recreational facility for children with SN today with our SN group so a much nicer day and well deserved treat for DD.

Yes the ecg lady was so unused to children and we had to sit in the adult waiting room with people so ill they were struggling to breathe and one couple who were obviously very upset (sad! shouted dd!) It was a shock coming from the lovely staff on the children's daycare ward who know DD so well and brought a picture book with photos to prepare her for her ecg and distracted her with toys and bubbles through the bloods.

HC can be surprisingly hard to measure - ds has usually measured around the 9th centile though we have had blips as high as 50th (!) and as low as 2nd - it does not help that the measurements are in a tight cluster so a slight mis measurement can make a big difference to the centile. I once joined a yahoo micro group which was very interesting in that some children with very small HC were more or less on track, whereas some who were only borderline micro had significant delays. Not sure if this helps or not but micro has been an on off issue for us since birth - now off as HC stablised at 9th centile. I do feel there is a link to the language and learning difficulties though as it is all far from an exact science.

willowthecat that is interesting, its not something many people have heard of. The paediatrician did say it sometimes means nothing but can mean learning difficulties and given that DD has her s and lang impairment it is likely to be linked.

It does seem hit and miss doesn't it and everyone I have mentioned it to says but DD has a perfectly normal head. She has massive hair due to crazy curls so I think that must disguise it a bit.

Did your Ds have to have tests/an Mri due to it?

Hi Everyone!

Used2bethin - DS also has microcephaly 0.4 at the last measurement. He also has brachcephaly but they think that was caused by sleeping so much on his back and not moving at all. He also has a massive mop of bonkers hair which disguises his flat head :)

When I read every report from the Paed - I cry, its the words significant developmental delay that always get me :(

Sorry you had a crap day at the ECG! Hope today was a better one!

Glimmer - you mentioned before about the cost of the tests and how they want to do everything where you are, that made me realise for the first time why we do things in stages here - money, money, money!

Anon - hi again!

Ninja - any news with you?

We're enjoying some lovely weather and for the first time since 2007 I can take antihistamines - yeehaa! DS2 is also up to all sorts, he's kind of commando crawling now - I'm watching him with amazement as DS1 hasn't done any of these things! This week I'm hoping to find out more about a possible SN nursery place for DS1, the Paed was supposed to have sent the referral last August which she didn't so she promised she'd do it at our last appointment and we would hear from the EA in a week - two weeks on and still nothing. So I think its time I did it myself!

Greetings to everyone else too x

Hi 1980sport, thats interesting, another microcephaly case, I had never heard of it and so thought nothing last year when the paed report said small head circumference in the list of diagnoses.

Yes its horrible seeing it written down. The paed last year prepared me and said just be aware the report will say words like significant and profound. She said she knew this was really upsetting tonparenst so wanted to warn me. She is now on mat leave so it was someone else we saw this time and what a difference!

Am with you on taking matters into your own hands re the nursery place, its the only way it seems. I almost always chase up results and it seems the only way things get done sometimes doesnt it.

Lovely day today thank you. All SN kids at the place we were at and thier siblings and just so relaxed. DD did some drumming and had an amazing time. An antidote to yesterday and its amazing how much more NT DD seems when we do SN stuff, not because of comparison I mean but because she is just easier to deal with and seems to come out of herself.

Hi Glimmer only just read you message dont get to come on here too often, my DS wont let me!!

I do have my 12 week scan on 21st, so I will ask more questions then, to be honest we thought we were only going to the geneticist about possible craniosysnostosis in my unborn child, we had no idea any of my DS' problems with his development had to do with any genetic/chromosones problems as no-one had ever mentioned it before.

We have struggled to get this far as we were constantly told he would catch up, but he went to see a development paed 4 months ago and she asked him to do loads of things (use scissors - he's 2?!, jump up and down on one spot, he only learned to walk 5 months previously!) so she just said very casually oh he has global development delay, get him into nursery asap, it was left there and nothing else was said. So it never crossed our mind it would be something genetic and these tests are only happening now cos im pregnant and my pregnancy consultant sent me for them.

Sorry i've droned on havent I!

1980sport - Hiya!

Anon that paed sounds so tactless! I once took part in some research a medical student did for her dissertation-it was about how parents feel when given a diagnosis and what helps/what is upsetting. I had lots to say!

It sounds like the tests are being done to see if it could be genetic? So it may not be? It should have been mentioned before though to save you the double amount of worry you are having now.

Any idea when they will give you some answers?

Yes it is quite surprising that microcephaly is not more widely known about considering how often it comes up as a possible issue for SN children. DS was born 3 weeks premature and underweight but age adjusted hc close to 9th centile - said at the time to be borderline normal range. At the time, I only heard what I wanted to hear, normal range and not borderline. The 4 months measurement showed a surprising jump up to 50th centile ( I now think this measurement was likely to have been wrong). The next two measurements before 12 months were back on the 9th centile. The issue really went away (after 20 months we were on the autism track) but at the age of 4 years, the paed said 'oh he has a small head' before measuring it and then after a not very successful attempt to get the measuring tape round his head, said that the hc was on the 2nd centile . I did not find out that a diagnosis of microcephaly had been made until I got the letter. I was not very happy that such a diagnosis had been made on the basis of one not very good attempt at measuring his head so I phoned to query it and she agreed she would re measure at the next appointment. When she did re measure, it was back on the 9th centile on the 0-5 age range (he was five by then) and on the 5-12 years chart well above the 9th centile and so the diagnosis of microcephaly was removed. So all in all a bit confusing and although he is not technically micro, his hc is at lower end of normal so I do feel there is a link to the brain development. Having said that, ds2 has a small head too but absolutely no issues whatsoever !! I think I am thinking about this too much at times.

Hi Used2,

Yes the tests are being done to see if its genetic, the consultant who we went to see said my DS has features that might mean he has a difference in his chromosone pattern, but she didnt mention this while we were there, it was wrote in a letter afterwards. Dont know if this means that another child could have it or not as dont really understand all that side of things.

She said that we could get the results anything up to 3 months, but they try to rush them if you are pregnant (why dont they do that anyway?!)

Hi Everybody!

Anon it sound like you are being treated horribly.
First of all - not using scissors at 2 and not jumping up and down in place seem to me totally normal in itself. Anybody else on this. So it seems if your DS has something it is mild.

And the consultant mentioning a possible chromosomal issue in a letter? You have some yelling (okay - it will be crying to do). Seriously, you have to decide fast which tests you want do not want in your current pregnancy and you can only do this if you are fully informed. It's okay, if they say: "I don't know without running test but it could be chromosomal", that's totally valid. But they have to fill you in what they are thinking about. Can you call and ask for a call back?

I did that when paed mentioned possibly chromosomal disorder casually when I left the office. I "talked" to the nurse two hours later and told her, you can't tell this a mother without filling her in some more. 30min later the paed called back ans we talked foe 30min. She is now much better in communicating with me, because she knows she can't just say something.

I do not want to tell you what do do. But I have been so many times

where you are and regretted not having spoken up. So I really speak from experience.

I really agree with glimmer anon and had the paed on the phone at 7pm last week after I left her a message saying call me back before the weekend! It got things done anyway and I totally agree its on fair when they suggest things and leave you wondering, I also think it is down to a lack of awareness about how much we are reading into everything they say sometimes.

I am going to ring the endocrine dr who we know v well tomorrow and chase up the ecg results and also spurred on by this thread am going to just come out and ask whether they have something in mind or are they covering bases checking. I feel she will be honest with me so think I will get more joy from her. Lol that is if I can get hold of anyone to put me through to her!

willowthecat they said small heads can run in families, I didn't worry about it at all last year, I remember having a thread here about it in a panic then thinking well I have got a small head, when I graduated the hats or whatever those things are called were all too big! But appaerently my head is normal. Crikey we could drive ourselves insane with all of this couldn't we!

Just wanted to say to all of you feeling stressed with this stuff whose children are under five nearby (and you prob do there are lots of them) that its the kind of thing they can offer support with (I work for one) and they can be brilliant at putting you in touch with other people or chasing things up for you, they usually have outreach workers and my local one even has a support group for parents and children with SN. Just a thought anyway as I've seen how helpful the outreach workers at my work have been and thought I wish I'd known about all of this when DD was tiny.

Argh stupid computer that should have said whose children are under five and if you have a childrens centre nearby! usually they say surestart or pact outside for those who havent used them.

Yes, your right, I think at 2 they shouldnt be expected to do things like that, I have never given my son scissors, why would I? even elc say they are not for under 3 years! Also was asked if I let him walk upstairs by himself - what?!! maybe just a overprotective first time mom but no!!!

It says on the letter he has slightly slow development, so I know he's not too bad anyway it the fact she kept pointing out things like big ears and flat fingernails and stuff that freaked me out a bit!

I always assumed his development was down to his cranio as he didnt have his op til 8 months old and his brain was squashed inside his skull for all that time as he had a very narrow head. So all of this is a somewhat of a shock that they think my perfect little boy has something else to deal with :(

But yes being spurred on by you lovely people I am now going to ring and give them an ear bashing!

Hope everyone is ok xx

It makes me :( that basically all of us have had really bad communication problems/experiences with our doctors/professionals at some stage!

Anon - genetic conditions can be inherited or de novo (dn) which basically means new (so not inherited). But it's such a minefield - Angelman for example has an inherited form and a dn form.

It is sad isn't it, I have had some shockers. But also some really amazingly supportive professionals involved. I rang and left a message for our consultant to say have they looked at the ecg yet. No call back yet. And she is part time so it may well be next week now.

Just wanted to let off a bit of steam -

Paed at DS's last review said she was going to send in the referral to our education authority to request that he be assessed for a statement. She said that they might not be willing to do it just yet as he is young and has no diagnosis. They may want to wait and see how he progresses but that she would be keen that we really try and get him an SN nursery place starting this September!
Anyway, I phoned the education authority on Thursday to check if they'd received the referral to be told yes and that he was at panel that day and to phone back in the morning to find out the result! So I phoned and they've agreed to assess him for a statement. So obviously this is good news - but why then am I so upset? I think I spend most of yesterday crying bit better today but I thought I'd offload on here and get it out of my system!!

((((hugs)))) 1980, it's a crap feeling, you always hope that they don't really need it and someone will come along and tell you not to be so daft of course you don't need a statement. It's the same with dla, you always work hard to fill the form in, then cry when you get the award, even on the renewal I can recommend some of the following as a tried and tested method to help [an extra tight hug with your child]

Yes ninja that's exactly it - I cried when we got DLA too! I'm on my third glass of vino, had a bowl of mint choc chip ice-cream and a crunchie and feeling a good bit better! Hope all is well with you x

you should be able to get that on prescription

Let's start a campaign :)

I'm in

Hi all,

1980sport so sorry you are feeling low, I was the same after the transition meeting at the school and XP was. We went in expecting them to say a load of stauff about how she would be fine, isn't severe enough for all this support. And fully prepared to argue it. But then they said they want full time one to one and a load of strategies that were better than I expected. The meeting was over two hours and very thourough and also they agreed that mainstream may not be apprpriate so we will keep reviewing! So I came away thinking OMG DD has proper, real SN! Which shouldn't be a shock I've been aware of it for years now but it still is a shock!

Good to get such a quick result on the statementing stuff though. We are at the next stage on so have posted off my parental contribution and been reading everyone elses reports this week all four of them! It has been a bit exhausting but I have to say, reading the reports the people who know her wrote (it was inclusion teacher, ed psych , SALT and her lovely lovely keyworker) was a relief after the hospital stuff. A list of diagnoses looks so cold whereas the reports were much more positive- ie she will need this this and this in order to progress, she has had this input and it has improved a little but she needs more etc etc.

Hope you all have sunshine where you are, I was nursing a very bad hangover yday so didn't get out much but going for a walk today.

Oh 1980Sport. I so understand how you feel. It's good that DS will get the help
and attention to detail he needs but having it black on white is so sad.

We got the final genetic report today. They had made two errors in the
preliminary one and I had to point out that the sub band they quote does not exist. Well, at least they agreed and used the word "error" twice.

300!!

Thanks everyone - feeling much better today! Hope you've all had nice weekends!

Hope everyone is well and that 1980sport you are feeling better still. So much easier to be positive when the sun shines.

Glimmer thats good you got the errors sorted, so hard to see it written down I agree.

I rang our consultant for the second time to see if they have looked at the ecg results- funnily enough I am not going to relax much till I know if her heart is ok its kind of essential! The reg is looking at it, the secretary has left her a note but she must have not read it yet. I know they have more urgent stuff going on I really really do and that they will have priorities and time constraints but just wish they'd do it as it is one less thing to worry about 9hopefullhy)