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?!

Hi used2b.
I am so sorry you had such a rough few days.
That sounds all so upsetting and the the bit about that you need to wait for another referral because they couldn't fit in the time to see the geneticist?!
What? I would have been boiling, but you probably had to worry about more important things at that moment.
So they are thinking she might have another condition in addition you know about? And they don't fill you in? This is so upsetting! We were never there
(we got the dx months before expecting it and it was very clear, because it could be diagnosed via karyotype), so I cannot fully understand how agonizing it must be to go through all the suspicions, symptoms and not being fully informed.
Well maybe there is some truth in "one step at a time". And come here for support! I am sorry to hear about the high BP. I had preeclampsia and the BP never returned to normal after giving birth, so I know a little too much about this part, too. Is she on meds? Just too much to worry about.
Thinking of you !

Wave to everybody else.

The local DS association finally replied and they are welcoming me into their circle. I hope I will fit (as the odd one out, certainly).

Hi used2b sorry you are going through all of this.Can remember how gut churning hard it is when they don't know whats wrong we went through 6 possible diagnosis to get final one.Thinking of you.
Glimmer yeh i had pre eclampsia too was leading onto toximia and my bp never settled down again and gave me kidney damage.Who says have children is easy!!!!!Good news about the ds support group.

Oh and about brain size.
I have a tiny head (can't wear bycicle helmets for adults...) and a PhD ( not that this is an objective measure of intelligence...). Obviously it's more important to keep track of, when there are some issues. I just mean brain size and head circumference might be an indication, but it doesn't tell you for sure.

Another interesting issues is that DD has additional duplication on chromosome 5 and they tested us the parents for this duplication with FISH (for free).
Since I have it as well, they conclude it's a variation of normal and not causing any issues. So we might make it into the medical literature... ) I think this is how they gain insight about 'normal' variatiations on the chromosomes and all the unusual things the miscro-array reveals knowbody knew about...

Used2 - how are you today?

Thank you, I am a bit better thank you trying to just relax into not knowing for now, maybe it is the better bit than knowing!

Interesting to hear the head size bit Glimmer, and also BP does it give you both symptoms? It is due to her steroids but because she had a borderline ecg after her collapse last year they are repeating it to check the BP hasnt affected her heart I think. She has kidney level checks once a year anyway as part of monitering her condition so they are doing it same day as the bloods.

I am cross about the paed who seems to think it will be ok for me to wait however long before doing chromosome tests, as if any parent would choose to wait to hear when a doctor has been that vague, I don't even know what she is testing for, grr!

Growlybear it seems you have really had a hard time too, six possible diagnoses!!You must have found them hard to trust after a while!

Meant to say thats good about the DS group. And yes they are now testing for other conditions as well as the one/s she already has

yep am i still do find it hard to trust them sometimes.The dr who was there back then is still seeing us today although she does seem to make more sense than back then.It just really anoys me that people are still in this situation.Mind you my dd had hip and scoliogram today and i really wanted to know the results today and i know that by tomorrow the dr's will know the results but i have to wait for next appoinment.Really feel for you glimmer.

That is so frustrating isn't it. Of course parents would want to know asap about these things, it could affect the whole future.

Feeling rubbish again today, was set to go for a nice walk, enjoy the sunshine and forget a bit but got letter about the eeg, booking dd in for 1pm the day we were due back from hol. Have started another thread because in theory its possible but fgs what a way to end a holiday we booked because it will be a releif from all the stress! There is also the problem that XPs new baby is due the same week so he prob couldnt come and DP would be with me anyway as we'd have to literally go to the appointment on way back from the isle of wight. It would be nicer for me to have DP there but then XP might mind a bit. Why is it all so complex!

Oh meant to say, DD is driving me insane! Her behaviour is so tricky at the mo and I am not managing it that well as keep losing my temper. Which then makes me feel awful given she may not be all that well from the blood pressure and who knows what else is going on in her head. Anyone else get this? When she was younger I was so worried she would die that I wanted it all to be nice for her all the time, and now I am feeling it!

Ps when is the next appointment growleybear and would they take pity on you if you rang and said please say now? DDs endo consultant is brilliant and I know she would tell me asap about things but I know not all doctors are so helpful.

So sorry to hear that used2b.Really seems somtimes that we can never really get away from it all and relax and if we do the benefits are very short lived.Next appoinment is 2 months away.Have tried phoning but consultant does not want to comment as dd seeing new consultant which i can kind of understand but still frustrating.Depending on the results would make a big problem from the future.Keep your chin up used2b.

Hi everyone -

Apologies Used2bethin - I never really picked up on the fact that the geneticist hadn't made it to the review apt! That's crap and now another wait for the next apt!

Life's never simple is it! Do you think there might be a chance of getting the other apt change or would it mean another long wait?

Glimmer - for some reason I thought your DD's dx came from the microarray. I really need to read people's posts a bit better!

Growly - we went for our DS's MRI results, sleepless nights for days beforehand, nervous tummies etc etc. Walked into the apt and it was one of the registrars instead of the consultant. He looked at us - we looked at him and he said so what are you here for? He then had to run and try and find the actual results. The doctors really don't seem to appreciate the stress caused by having to wait for the results and the often inappropriate ways they are communicated! Right, rant over - hope you're ok :)

Hi,

Could do with some handholding here!

My son was born with craniosynostosis, had surgery at 8 months, then as he got older realised he wasnt hitting his milestones when he should then got told at 26 months he has GDD.

Now I'm pregnant again and now my consultant who I see at birmingham womans wants my son to have genetic testing to make sure this baby wont have the same problems.

No-one even mentioned having these tests before I got pregnant so never crossed my mind that there would be anything that would affect this baby too.

So basically feel like crap, saw the geneticist the other day and she thinks my son has features (big ears, chubby hands) that might mean he has a difference in his chromosone pattern.

Hope everyone is ok :)

growlybear 2 months is a long time for you to wait thats so hard. Yes you are right it is impossible to get away, I've never taken dd abroad as been too worried about ending up in a hospital where everything is unknown or running out of meds or something dreadful.

1980sport I hadnt noticed don't worry! The geneticist was there about her existing condition and has seen both XP and me separately recently so prob thought we wouldnt need her. There are some chromosome tests being done mon now anyway but not sure how long that will take. Last time she had an ecg the results were instant so hoping that it will be the same this time. Am too nervous to even try to change appointment time I think, I think we will just come back early if they won't let us do sun-sun instead of mon to mon. Desperate for the results but don't want to know at same time.

anon hi, poor you that sounds stressful. Have you had the genetics appointment yet?

Used2 - you are getting it thick right now. Can you ask to change the appointment? Maybe even ask if they can put you additionally on the wait list in case there is a cancellation? Isle of Wight - what a nice place to go for a break!

Hi and welcome Anon. And congratulations! It sounds like it would be good to get as much information as possible and then you and only you should decide what's right for your family. Most do want to know and hope to get a diagnosis,
but some of us are happier without. I am a bit surprised they want to test your son rather than do an amnio?

1980 Sport - yes geneticist ordered an micro-array, but then it was clear from karyotype done at the same time. We live in a country where you pay for health care privately, so the strategy is opposite to treatment in the UK (where I have lived for several years). You will get tested for everything and by any means, because/but you have to pay for it. (To be honest, we have received excellent medical care and bad-manners - but at a prime cost!)

Hi,

I have had the genetecist appointment and all she managed to do was scare me with her extremeley vague information! she wants to test for fragile x - but looking on here it seems to be the first thing that comes to mind when they start testing and im really hoping he doesnt have that as it sounds horrendous and really feel for anybody who does have to cope with it.

Not really sure why they havent just done an amnio, I am 10 weeks preg, so maybe that could still happen, but at the same time I am classed as high risk due to a previous abruption, so that could be why they havent mentioned it.

Sorry im only talking about myself, but there are 11 pages here so is taking me a while to catch up!

take care xx

glimmer, think I will leave the appointment and come back a day early, we are looking into going sun to sun if they haven't got a full booking for the previous and following weeks they may consider it, its a family park and it is in term time that we are going so I am hoping they are quiet enough not to mind. Or we may just forget isle of wight and try to find a cottage in Devon or somewhere that will do sun to sun bookings. But that is a good idea about the cancellation if we decide to do the coming home early thing I will definately do that. ECG tomorrow and bloods for her her existing condition, will feel a bit calmer once I know her heart is ok I think (touch wood touch wood!). Easier to feel positive in day time especially when its sunny. Bit worried as have felt positive before hospital trips this last couple of weeks and come back feeling awful but fingers crossed tomorrow will be the exception. We will be on the ward and the staff know DD well so that should help, they are really lovely there.

How are things with you anyway?

Anon don't worry I have only recently joined the thread too it is a long one and you have lots going on you don't have to remember everyones story. I sympathise with the vague information, it just gives leaves you more worried and confused. Is someone going with you to appointments? If they can, I always find that useful as sometimes I am too busy panicking to take it all in. Hope you're ok. Pregnancy is a difficult enough time in my experience without all the worry.

My DD was tested for fragile x when she was born so I looked into it a bit.

anon, I know it's easier said than done but do try not to google Dr google will not be your friend at this point in time. There's a couple of things to remember about googling. First is that most syndromes come on a spectrum, there will be those only mildly affected and those more severely affected. Second is that only the more severe cases will be medically interesting and papers will be written about these cases which is what is likely to come up on a google search.

if you google dd3s syndrome, the list of symptoms is as long as your arm and includes things like brain tumours, in reality no one in the support group has had a dc with any sort of tumour and no ones child has all the symptoms.

congratulations on your pregnancy hope they rush the tests through for you.

waves to everyone else keeping fingers crossed that appointments and results come back quickly! There should be a module on the medical training course about the pressure of waiting for results and appointments.

Hi been to hosp today for bloods and ecg, was awful. And had to sneak a peek at dds notes on way from ecg to the ward it said her genetic conditon, then microcephaly (small head?) then learning difficulties. I know she has them but still made me sad to see it written down for the first time.

sorry to hear you've had a tough day How long before you get results?

Oh used2 - I am so sorry to hear about the awful appointment.
Wiki sais about Microcephaly:
"Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex."
I understand the shock of it being written down. I just want to give you a big hug. Do you have the ecg results yet? You know you could always ask for a copy of the record. Just make sure to tell them that you want them "to understand things" better, so that they won't take anything out (which I believe they can do, if they feel "threatened".)

Anon - amnio is normally done around 16 weeks. CVS at 11, so you would need to get an booking immediately. However, I don't get the impression you particularly want one? I think this is the first thing to consider and if you want one, then you will probably have to ask (fight) for it. Do they think your DS sons condition might be inherited? DD's daughter is "de novo", so it was never even consifered to check DS.

Thank you. Not sure but I think I will ring her consultant tomorrow and see if she has heard anything. I know last time we got them almost straight away but we were in a and e. Thats the ecg anyway, the bloods etc will be longer but one set just related to management of her existing condition, bet the chromosome one takes ages. She suffered for those bloods she has tricky veins from over use and I was impressed but saddened that she was so submissive about it when she was in pain.

The ecg was a different story she yelled loudly "poorly" at everyone who walked in then said baby in there to an overweight man and finally kicked the ecg technician, who saud she wouldnt do it if she got kicked! I think they were un used to kids in the ecg department tbh it wa shorrible. And they had to repeat the ecg 3 times and still may call us back if it looks like dd moving has ruined the result. Ugh.

How are you?

glimmer I cross posted with you will just read your bit...

Thanks glimmer yes I have thought of asking for her notes although they are huge it would take ages! The bit I read was just the front of the ecg request, it said clinical diagnoses. The term learning difficulties though, is that a diagnoses? Or maybe just a term when there is no proper diagnoses for it...?

Feeling so worried, she seems so clumsy and kept dropping a ball yesterday, she's always been so good at that sort of thing but I am maybe just looking at everything with suspician.

Thanks re microcephaly, esp as it saves me googling!

Oops have been googling a bit anyway. And then remembered the paed last year saying did I have my red book for dd and was her head circ normal when she was born. Just dug it out and they recored her head as 33 cm when born but no one charted it so am not sure which centile that was and no one measured again till her paed assessment last year. Unless its in her hospital notes but am thinking not as she asked.

used2, there's a head circumferance chart at the back of the red book. If she was born on time then that would put her on the 9th centile at birth. I don't know how that puts her with the height and weight centiles but I think the drs start to get concerned when HC grows much slower than everything else, if that makes sense, so if she's always been on the lower centiles that may not be an indication of anything to worry about.

hope dd is ok today, I don't blame her for being upset, why didn't they send her to someone who is used to dealing with children