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?!

When DD was tiny they didn't like to use emla I think it is because it isn't licensed for under ones possibly. They used to use Ametop though which is an alternative so maybe ask for that. I think proactive is the way to go and often ring ahead to check they have anything, th other thing is sometimes the nurse posts me the numbing cream and bandages so I put it on DD at home and it is ready when we get there, may be worth a call?

Sorry just seen the tests are today. Hope they go well, and you get some answers soon, the waiting bit is hard.

But yes enjoy your DS and be kind to yourself. I always give DD and I a treat after blood tests or tricky procedures, even if it is just a drink in the cafe or trip to the park. I think it helps me and her to give her something to look forward to after but I know this is harder when they are very young.

Hi Lisa - you've an awful lot to contend with!!

Our experience has been slightly different in that the dev paed had already done quite a few of the initial genetic tests before we seen the Geneticist. So the geneticist began by taking a detailed history of pregnancy, birth and DS's life to date, he had him measured, weighed and head circumference taken, he also gave him a thorough physical examination looking at his hands, feet, spine, nether regions, felt round his head etc etc. He pointed out to us a number of genetic indicators and based on this he ordered more blood tests looking for specific microdeletions! These have since came back clear so we are now waiting on a microarray which is the most detailed genetic test currently available but unfortunately not done at our genetics centre.

Have both your girls been referred?

Lisa - should also say he drew a family tree which was quite short as DH and I only have one sibling each and there are no cousins. I'm sure your geneticist will be interested in your family history.

Good luck Hazey - hope it's as stress free as poss!

lisa, hello What 1980 said plus a very detailed family history, ours wanted very specific info on what people had (down to what it listed as cause of death on my parents death certs, cancer wasn't good enough) so may be worth doing a list before you go just in case, because I sat there umming and erring a lot while I got my brain in gear and tried to figure out who was related to who and how that related to dd3 From all that they will decide what to do next, might be blood test for dds or yourselves or mris, skin/muscle biopsies etc. Blood test is the usual starting point but be aware that they can't see everything, even on a micro array/human genome hybridisation. How's dh doing these days?

hazeyjane, hope all goes well today. Ds2 had blood taken from the back of his hand at a similar age, he saw the phlebotomists rather than the nurses on the ward that had done dd3s and it was over and done in seconds with barely a wimper from him. Dd3 always involved at least an hour and a half on the ward, if she needs it doing again I'll be asking not to go to the ward! You can ask your gp to prescribe the 'magic cream' in future and put it on before you go, saves too much hanging around. Come and wait with us for the results, it's the worst bit but there will be on the go whenever you want

usedtobe, maybe they had a cancellation they gave you, not necessarily anything sinister, or could be that as she's already in the system she doesn't require a longer first appointment and is not treated as a new patient, hence not having a long wait. Try the consultants secretary, they won't give you results but may be able to put your mind at rest.

at proactive, I once got called willfull by dd3s headteacher, best compliment I've ever had!

waves to all

Hi back and welcome Lisa! I just rang the secretary she was so lovely and called me back within fifteen minutes to say she had spoken with the person in charge of appointments and it was just that they had a quiet few weeks and DD's file was on the table so she got the first available appointment, so it was efficiency as she put it! Funny I was so taken aback at the efficiency that I had assumed the worst! Ah well less worried now and glad I rang.

I guess the wait will be a little easier now, you just don't expect efficiency these days do you!

Well that was even more gruelling than i thought it would be!

They couldn't find a vein at all, one dr tried, but said she felt she would only cause him pain and distress, so she called someone else, who stuck a needle in his wrist, but no blood came out, she then tried to get 7 x 2 ml samples out of a heel prick! Ds was hysterical by this time, they then called in a third person who managed to find a vein in his other wrist, and they managed to get enough blood, it seemed to take for ever though, poor little man.

They didn't use any cream at all, because they said that it can make it harder to find a vein, and apparently it doesn't work in under ones?

We also had to get a urine sample, which involved me sitting with ds on my lap, holding a sample pot over his willy, for about half an hour, when he suddenly did the most enormous wee, filling the pot and drenching my lap!

All in all we were there for an hour and a half, and then had to go to the physio's for an assessment.

I am knackered!

Thankyou for the welcome, and offer of , I will definitely be having later!

I have no idea at all how long the results of chromosomal testing takes, and the dr taking the bloods could give me no idea. We have a Team Around the Child meeting next week, so I guess someone might be able to give me an idea then, but does anyone have any idea?

Sorry, meant to say, I'm glad your mind has been put at rest, Used2bethin. I have been amazed at how quickly everything seems to have been set in motion as regards ds. When my dd was referred to a SALT for her stammer, I rang after not hearing anything after 6 months and they said they'd never heard of her, ds was referred last week and we got an appointment after a few days!

sorry to hear it was stressful hazey, how's ds now, they do tend to forget things like this very quickly, unlike us Not heard that about the cream before, dd3 and ds2 between them have had quite a few blood tests between them under one, they've always had the cream. I can't remember how long dd3s bloods took but was counting in months rather than days, it wasn't a quick process for either the individual chromosome tests or the micro array. It probably depends on area though so could be different for you. Sympathies on the urine sample, have done that with dd3, had spare clothes for her but not me. Definitely for later

Oh hazey how i remember those days.If i wew you i would get some cream prescribed from gp if ds needs more bloods done.Can remember waiting for urine-slightly differant for girls they use a pad and just as dd did a wee she did a poo too!!!!!!!!so had to start all over again.Think bloods can take a while.Have a large glass of wine tonight.

Hi sport things have been rather hectic hear dd's scoliosis has got worse we are probably looking at surgery in a year or two.Plus her epilepsy is not good she has had two big seizures in 3 days and some smaller stuff.Still will be seeing new consultant after half term so hopefully he will be more helpful.Then on top of that school have been playing up a bit so have been looking at a new school which would not be good for dd as she hates change.Have had a lon g meeting with ht today to try to sort things.

Hope you doing ok x

hazeyjane poor you that sounds awful we had a similar trip recently due to DD's receding veins. Its odd because I used to ask them not to use cream for DD due to the receding veins problem and they never would listen then when eventually a more senior person would be called to try and they would say oh dear the cream has made them recede more! I thought in your case as your DS's veins aren't over used they would just use it but can vouch for it sometimes making veins recede when the needle is in. I really sympathise as have spent so much time beating myself up over blood tests that have been long and hard (anyone else always feel irrationally guilty at not stopping it happening even though it's not a choice at all?!) but agree that they forget so quickly. DD even loves the staff at our children's hospital, the ones she knows well even though they have done countless bloods so she hasn't taken it personally or been affected badly from it.

Wanted to add a wee sample story. After sitting with DD in hospital for an hour or more waiting for her to wee into a plastic bowl I gave her a cereal bar to dstract her-it fell into the wee she suddenly produced, ruining the sample! Think I cried!

Chromosomal tests take up to 6 months to come back :(

Hi hazey - sounds like a bit if a nightmare, but I'm sure he'll have forgotten about it already! All of our tests have taken three months thereabouts to come back!

Used2be - at least you can put your mind at rest now hopefully it'll not be too long a wait coming round! Efficiency?! There's a first :)

Oh Growly - you've a lot going on. How is she after the seizures? Is she in school at the moment? And now surgery to look forward to :( - is this the first??

Ninja - I laughed out loud at wilful and told DH! A lovely compliment

6 months! Oh well, I am getting used to waiting!

Ds was just knackered by the whole morning. He seems to get very easily tired, everyone who sees him, always says 'ooh he looks sleepy', but that could be at any time of the day.

If we have any more blood tests, I'll definitely insist on the cream, and coat him from head to toe in it. I will also insist that they don't add to his misery by stabbing him in his heel and his toe in order to get a few measly drips of blood that wouldn't be enough anyway.

Have had large glass of wine and have hunted down chocolate.

Thankyou again everyone

Oh HazeyJane that sounded stressful, you poor DS!

They always manage to get blood better out of my DS than me! My last blood test took about an hour resulting in the anaethestist being called! lol

I always remember my DS having to have a urine sample when he was 8 weeks old and they put this bag over his bits with a big sticky thing on it to hold it there on his balls! Oh the pain when they pulled it off, poor little mite!

Anyway received results from the microarrays today and it says that they are normal and although does not exclude an chromosome imbalance it makes it less likely. They estimate that the chance of similar problems in any further children is low at around 3-5%

BTW heard baby's heartbeat for the first time today!

Hope everyone else is well! and enjoy your

lovely news anon

growly, hope dd's ok

Hi everyone thats great anon.
Hope you feel less stressed today hazy.
Hi sport and ninja yeh dd not too bad today.Sport yes she is still in school at the moment.She is extremly tired after the bigger fits and yes will be first surgery on her back.

Brilliant news Anon!

That's rotten Growly - poor DD :( hope the fits settle down soon! I suppose you just try not to think about the surgery too much for now?!

The fits really are hormone related so we know roughly when to expect them-thats when most of the big ones happen anyway.We are seeing new consultant in 2 weeks so fingers crossed he will be able to do something to help.Yeh we are trying to put the thought of surgery at the back of our minds although we have done a bit of research in preparation and we are doing more and more exercises to try and strengthen dd upper body.

Hi - we have the EP coming to assess DS on Thursday, any advice or anything I should be aware of from those of you who have been there done that :)

Hope everyone is well! X

Yes growly fingers crossed the consultant will have a few tricks up his/her sleeve! What sort of exercises are you doing - we're working hard to try and strengthen DS's core and pelvis at the moment in a real push to try and get him up onto his feet!!