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Original poster

Support thread for Chromosomal/Genetic testing and diagnoses

500 replies

glimmer · 20/01/2011 17:50

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?!

OP posts:
Original poster
glimmer · 14/02/2011 21:31

How's everybody?

DD has kidney and heart ultra-sounds tomorrow.
At least 50% of children with her dx have problems with the heart and/or the kidneys.
Let's hope for the best.

Herecomestheninkynonk - I appreciate your p
ost. While I appreciate the power of having a dx, I personally would have preferred not to know. It's just that individuals with her dx, have all major problems and she hasn't so far/yet.
So while I am truly grateful for the latter
and for being able to help her, the outlook is so discouraging that I would have preferred not to know.

Well, I better don't post before getting tomorrow results back. Maybe she has major problems and we just don't know.

shaz298 and growly - I really admire your strength and totally understand. I do appreciate a lot more that DD has no overtly health problems.

The thing is - we didn't chose this. We were never asked. But we have to life with it and rise to the occasion. And while admiration is in place, it's not what we chose this life.

OP posts:
StillinMyPJs · 15/02/2011 06:31

Hi glimmer, we're good. My appeal against the rejection for carer allowance was accepted and the payment has been backdated to when I made the claim 6 months ago. The lady said that I will always struggle to get past the periodical reviews that are done because DS's potential dx is not a common one.

I'll be thinking of you on Tuesday - I've been there. The first syndrome that DS was thought to have has a 90% incidence of dilated cardiomyopathy. I was petrified and kept looking at my DS in tears, thinking of the potential time bomb that was about to go off. Like you I had only just found out that DS had a serious genetic disorder; I hadn't even come to terms with that and then we were on our way to a cardiologist's clinic. Fortunately the echocardiogram showed no abnormalities and I got to relax a bit, hoping that DS was one of the 10%. We were supposed to go back to the clinic 6 months later, but by then the test for the syndrome had come back negative and we moved interstate so we dropped out of the system.

Now I am back to where you are, a new clinical diagnosis of a genetic disorder, but with about the same odds of dilated cardiomyopathy as before. DS has another echocardiogram booked for early March. I'm really quite scared that it's going to show that he has problems. I am coping with it a bit better this time because I have had the time to take it all in and it is possible to distract myself from it (distraction was impossible in the early days of the dx).

You haven't said what heart problems the cardiologist will be looking for in your DD, but when we saw the cardiologist, he said that dilated cardiomyopathy can be picked up on the scan before the child shows any symptoms and that there are medications that can be used to slow the damage done to the heart.

You're right that we did not choose this life. I have found that knowing the different stages of grief (shock and denial, anger, depression and detachment, dialogue and bargaining and acceptance/empowerment) has helped me understand my emotions over the past year.

Gotta go now, DS has woken up.

bigcar · 15/02/2011 14:38

stillin, that's great news Smile Hope the ecg goes well next month.

glimmer, have everything crossed for you for today x

growlybear · 15/02/2011 14:49

Hi glimmer hope everything went well.Stillin glad you got the carers allowance.Why oh why do we have to fight for everything.Makes me soooo mad.Glimmer we are ok had a bit of nasty shock in pc world my daughter had a massive fit-shook violently,gulped for air and went very blue.Absolutely horrid she has not had a big one for 3 years but lots of differant ones including ones that are bought on by hormone levels.I agree stillin if you know about the differant stages of grieving it helps you to understand what you go through.

growlybear · 15/02/2011 14:50

Hi glimmer hope everything went well.Stillin glad you got the carers allowance.Why oh why do we have to fight for everything.Makes me soooo mad.Glimmer we are ok had a bit of nasty shock in pc world my daughter had a massive fit-shook violently,gulped for air and went very blue.Absolutely horrid she has not had a big one for 3 years but lots of differant ones including ones that are bought on by hormone levels.I agree stillin if you know about the differant stages of grieving it helps you to understand what you go through.

growlybear · 15/02/2011 14:52

Hi glimmer hope everything went well.Stillin glad you got the carers allowance.Why oh why do we have to fight for everything.Makes me soooo mad.Glimmer we are ok had a bit of nasty shock in pc world my daughter had a massive fit-shook violently,gulped for air and went very blue.Absolutely horrid she has not had a big one for 3 years but lots of differant ones including ones that are bought on by hormone levels.I agree stillin if you know about the differant stages of grieving it helps you to understand what you go through.

bigcar · 15/02/2011 15:50

oh no growly, is she ok?

growlybear · 15/02/2011 15:59

Hi bigcar has not really been the same since can't put my finger on it though-no temp is still eating the little she can eat and is tollerating gastro feeds.We are seeing the consultant on friday.

bigcar · 15/02/2011 16:10

I hope she's back to her normal self soon growly

growlybear · 15/02/2011 16:12

Thanks bigcar.

mole1 · 16/02/2011 16:00

Hi all. My dd2 is 9 - they have only recently found a small deletion on the long arm of chromosome 10, so it can take many years to find anything unfortunately. I never really believed they were going to find anything it had taken so long.

She has microcephaly, severe learning disabilities, impaired growth/failure to thrive, hypermobility, squint and poor circulation meaning she has trouble keeping warm. She's having a peg feeding tube operation in a couple of weeks as her weight gain has been so poor. Today she had to have a barium meal but the radiographer was lovely, and it wasn't that bad :)

growlybear · 16/02/2011 19:31

Hi mole really feel for you going through such a tough time.Everything seems to happen all at the same time which makes it all horrid.Stick around on here tis a great thread.

mole1 · 16/02/2011 20:46

Thanks growlybear :) Hope your dd feels better soon, it can all be so worrying. I will stick around!

growlybear · 18/02/2011 08:59

Oh well off to see consultant today.DD still having silly amount of blue episodes and hyperventilating quite badly.Also had a small seizure yesterday and the day before.Hope we get something sorted.

bigcar · 18/02/2011 09:28

growly, hope all goes well today and they can sort something for her.

Hi mole Smile has it made a difference do you think finding the fault? Thankfully dd3 grew out of her failure to thrive eventually, hope all goes well with the peg op.

growlybear · 18/02/2011 09:42

Hi bigcar thanks for that.Mole my dd failed to thrive but once she had the feeding tube op done she changed for the better and became more alert and it took a lot of the worry ie aspiration and failur to thrive away from us.

shaz298 · 18/02/2011 09:51

Growlybear - Hope you get some helpful answers and your lo feels better.

Mole- Hope the op goes well. SOme people are really against feeding tubes. However if it ewasn't for the tube my DS wouldn't be alive so they can be real lifesavers. In a few weeks you'll wonder what you did without it.

xx

Original poster
glimmer · 18/02/2011 17:35

Growlybear - how did your appointment go? Am so sorry to hear of the seizures. I hope they can help.

Hi and welcome, Mole. I am thrilled that we get more posters on this thread. It has been so helpful to me! Sometimes feeding DD takes over whole days (this is not true - but it feels like this) and I wished she'd had a feeding button. But - I realize I don't know what I am talking about!

PJs - great news about the carer's allowance!
Thanks for your kind words.

The heart and kidney results were good.
DD has a PFO (Patent foramen ovale) = "hole in the heart", but the cardiologist was not concerned about it. (???_!!!) It sounds not as benign when you google it, but I think we don't even have to come back in a year.

Wave to bigcar and Shaz and everybody else.

OP posts:
bigcar · 18/02/2011 17:43

glimmer, good to hear all went well. Is that the sort of hole that lots of people have, the one that hasn't closed properly just after birth? I feel your pain on the feeding, dd3 just never got hungry, not interested in food at all, took ages to get anything into her.

growlybear · 18/02/2011 19:02

Hi glimmer yeh appointment went well consultant has now increaser meds again so hopefully they will start to work soon.Good to hear your appoinment went well.I know what you mean babout feeding taking hours althougg our dd is mainly tube fed she can have some orally but we have to go really really slowly but it is a joy to watch her as she really slaps and makes such a noice because she is sooooo enjoying it.

bigcar · 18/02/2011 19:33

growly, glad it went well, do they think it'll take long to work?

growlybear · 18/02/2011 19:44

Two of them will take 3-4 weeks but the other one which she takes for 2 weeks every month to control the hormone related epilepsy will work fairly quickly and will have a covering effect on everything else hopefully.

Original poster
glimmer · 18/02/2011 21:20

Yes bigcar - it's the one that hasn't closed properly after birth, but I think it won't close now if it hasn't...

DD is in a rice and cracker and cheese phase, but unfortunately she also suffers from bad constipation so that I need to balance her food intake. I am so happy when she eats that I don't care what and then I feel bad when she suffers from the constipation. I think I can manage this, but I need more practice...

Growly - hope the meds help.

OP posts:
shaz298 · 21/02/2011 11:15

Hi Everyone,

I very cheekily sent an emial to the geneticist this morning. We haven't seen him for years and I was asking if Luuk had been discharged since we hadn't heard anything from them......

Well this is the response I got..'Yes he is still in my thoughts. There is a study in Cambridge about to start looking to sequence the entire genome of affected patients. Luke would be a idea candidate for this. I was going to contact you once it is up and running and will neeed both parents DNA.'

Great news, would be better if he spelled his name right though........

I'd given up all hope of any more tests thinking they had decided it was impossible........very excited.

xx

bigcar · 21/02/2011 11:42

shaz, we have similar with dd3, she's still on their books should any new tests become available, just not an active case. I have learnt to bite my tongue about spelling of dd3s name, can be G or J, bloody dh chose the less common way round, shame he's not the one that constantly needs to say dd3 with a J Grin Hope things work out with this new study.

glimmer, they can't be worried if they don't want you to go back, step away from Dr Google, it'll do you no favours Wink

growly, how's dd getting on with her meds?