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 glimmer yeah i know what you mean about no speech but good communication if i tell my dd NO she blows a rasberry at me

or even as raspberrydamn this computer.

Hi all, also haven't been on recently as our genetic results will take so long. Also can't remember where I got to on here (have had help from some of you on my other threads) but dd had an abnormal eeg result indicating benign rolandic epilepsy so thinking that may be the next diagnosis tbh!

Waiting for an MRI now and neurology appointment to find out more and trying to carry on as normal but failing!

Hazeyjane the JR is our local hospital too! Or are you just there as a one off?

Hi used2bthin i am sure you are not failing.It is always horrid when our dc's start changing and we don't know whats going on.I really hate it too.But you know your dd best just keep all the records you can.We even plot all of our dd seizures on a daily year planner as then you can see if there are any patterns and of course if you can record any episodes thats allways good.Personally i hate doing the recoding it feels so intrusive but we do it because we know it will help.Keep you chin up used2b.x

Thanks growleybear hope things are going ok for you. I feel I have to be really upbeat about it in RL ie oh its ok if they medicate her, she's very used to meds so am I etc and oh well epilepsy is manageable could be worse etc. But its a huge deal to cope with on top of her other medical and developmental issues or even on its own so its a bit of a secret feeling down iyswim.

Know exactly what you mean about feeling intrusive, I went in last night with the camera and was watching DD lip smack and eyes open but unfocused and she suddenly rolled over and said go way! So she is fed up with me appearing in her room lol! But good idea plotting it on the calender.

DD is unwell today so I have been waiting for things to get worse bt so far so good.

I think we are all so good at putting a brave face on things but of course it hurts deep down.We hate seeing our children have all of this.But then they smile at us or do something funny and it cheers us up for a while.We never know whats around the corner but we all cope,most of us are not nurses and people expect us to cope.I find it really scary sometimes but i probably would not admit that to many.We cope bacause we have to cope.

Very very true. So much that I do now seems normal but it can be frightening.

So right we cope because we have to. But thats just reminded me of my friend whose dd was admitted for a night or two in hospital with a chest infection , it was her first time in hospital with any of her children and she rang me after and said it was horrible to which I sympathised entirely having spent so much time in hospital with dd, she kept on ranting about it though and ended by saying how do you do it, I ouldn't cope I am just not cut out for that because obviously I was born for it lol!

Yep i get that one all the time.But we cope like she coped and if she had to do it again and again and again she would cope.I think for us and our dc's its hard because its hard to plan even a day ahead when things are changing and you don't ever want to be too far from them.I find the epilepsy horrid because you just never know when they are going to have a seizure-although my dd has had loads right in front of the consultants just lately which is always a bonus.But joking aside it can really tie you down.But things do and will get better im sure.x

"We cope because we have to". True. True. But I just can't make my peace with this (yet?). I am angry and upset and I am not willing to give in my fate. I do ask - why me? - over and over, even if I know it doesn't help.

I know most of you have much more on their plate health wise. DD seems to be healthy so far and I am grateful for this. I understand that the fear of a seizure can be really paralising.

We saw the endocrinologist today and it was quite frustrating to me. The doctors don't agree if her small stature is genetic (that was the concensus so far) or caused by lacking nutrition (new on the table, but previously 'ruled out'). He's opinion was it's the latter and hence growth hormone therapy wouldn't help. We have heard this the first time, so we'll need to help to sort through the new info with the Pediatrician. I hated how patronizing he was. He had been recommended to us as expert by a number of doctors, but then he didn't know about the 18deletion research and told us "people keep asking me if there is a link to cognitive behavior, but no research has been done on this", to which I promptly pulled out the publication and handed it to him :o :o :o While I am proud how prepared I was, I really feel more :( about his ignorance.

Hi glimmer it really is horrible when professionals don't agree.Sorry you are having such a hard time of it we always seem to know more than them but half the time they don't listen to us.We are having this with our dd epilepsy and scoliosis at the moment.We have a really arrogant orthopeadic surgeon who apparently is very good at his job,i don't doubt it but he has no people skills,his reply about my dd scoliosis was'well what do you expect'.Well what i expect is that we try to slow down the process so that surgery comes later rather than sooner.I can't just sit back and wait for the inevitable i have to be helping mny dd as much as possible.

Hi glimmer, sorry have been offline. We are in London. All the research I have found has come from Dr Jennifer Miller, University of Florida. This is the info that I saw that really made me want my ds to start GH asap.

She is very well known in the US and our endocrinolgist at Chelsea and Westminster hospital had heard of her and her research into GH/IQ. We were fortunate that our endo here (Dr Nicola Bridges) agreed our son could start at 7 months.

His syndrome, Prader-Willi, means he is deficient in GH so the drug is licensed for this. From the info I have it is licensed for particular syndromes so I don't know how it will work for you in terms of getting it prescribed. Yes, it is expensive from what I know. If you google Dr Miller you will find her email address and she is usually more than willing to respond and may be able to send you some research you can use to fight your corner. Good luck.

BTW you could ask for an IGF 1 blood test, this will show GH levels, we were told our DS levels were the low end of normal, that's with GH. We are aiming for the high end of normal for optimum results. There is some controversy around dosage.

Thanks for the info, Hellenbach.
The IGF 1 was normal, so there is not a clear GH deficit per se and GH is not
approved for DDs particular disorder. I don't want to push something that's not a problem, but information is always better!

Hi - just bumping this back up!

Hazey - re your question about a developmental delay thread. I was referring to the new research project which has just started called Deciphering Developmental Delay - it will be testing 12,000 children living in the UK who have undiagnosed developmental delay using the most advanced genetic testing techniques available. I think there will be a lot of families receiving dxs and restarting testing in the coming months and years!

Hi all, Glimmer that sounds stressful and so unfair when professionals can't decide and make you feel like you are the one who doesn't know.

I have a thread on this but only had one reply so far and thought I'd try here-DD's geneticist has written saying that now we have the epilepsy etc then that with the microcephaly and a few other unusual features-short neck, low hairline, something else... it is worth testing for MPS and amino acid syndromes. Not the exact wording but you get the gist. Is this normal or maybe they have something in mind? I had almost forgotten the genetic tests as just thought oh it s epilepsy but of course the geneticist said that if we were seeing emerging seizures on top of the learning issues then there were certain things she'd test for. Just so worried.

Hi Sport and Used. Wave.

What is MPS? You know this is somewhat of a recurrent theme here, but a diagnosis might not be so bad - at least you would know what to look out for.
It won't chance the challenges DD has. Sorry also don't know anything about amino acid syndromes.

Yes I agree re diagnosis. I just want to face whatever it is and life has been on hold too long already. MPS I now know from my other thread, is a collection of diseases which are metabolic, they seem to vary greatly in terms of prognosis. I wondered if this stuff was routinely tested for but perhaps not since not many on the SN board seem to have heard of it. Also need to ring the geneticist and check whether they need dd to do a urine test for the new tests she is doing- she has blood and DNA already.

Hi used2 - sorry I missed your other thread! My DS had amino acids and metabolics done too through his neurologist - she said she had nothing in mind but would do them to rule out a lot of conditions. She said she would be surprised if any came back abnormal and that if he did have a metabolic condition it would be on the milder side. It was urine and blood tests - she didn't mention specific conditions but rather various levels of names I can't remember but I can hunt out the results if that's of any help?

Hi 1980s how are you? oh I am glad that you posted that, my thread had one answer with a really good link to a site all about the lots of MPS conditions and some of the conditions are a bit on the worrying side. So I think I have found the conditions they are testing for but thank you that is a really kind offer and its reassuring that it isn't just dd on here being tested for it, it may be another one they routinely do in certain circs.

DD has some of the physical characteristics but then so does her dad and his dad. I have just re read the letter and it says she wants to test for these but after the MRI and neurology results, crikey this is a long wait.
We have decided that getting married in november with all this going on is a bad plan as we could be looking at results not long before that. So delaying till feb/march but finding it hard to motivate myself.It really can take life over can't it, I have my appraisal next week and its such a reminder that life just has to goon as normal in the meantime,I am thinking of leaving and getting less involved work closer to home or even childminding depending on results tbh.

Any others of us got a child starting school or nursery this sept? DD is and things are going to plan, statement etc.

Hi Used2be - yes the neurologist told us that some of the metabolic conditions had poor prognosis - Your timeline of testing seems quite similar to ours. DS had his MRI first then the metabolic. I think all in all we had 17 months of waiting for results but during that time we had DS2 which very much helped us take our mind of things. It is very difficult just to get on with normal life, on one hand it would be nice to have the wedding to look forward to in Nov but the results would probably take away from the enjoyment of organising it so maybe it's best to postpone and give yourself some time to get the results in (whatever they may be). Weddings can be stressful enough too :) but in a good way!

We're expecting our draft statement next Tuesday - yikes! But I know we won't get it, I phoned on Thursday and they are still waiting on his medical report which was due to be returned on the 28th of June!! I phoned the Paeds secretary and they are 6 weeks behind on typing up reports. She said she'd try her best to get his typed (it was on her desk) and posted with 48 hours. We are hoping he will be offered a pre pre school place at our local SN school but he's not 3 until December so we've been told it'll be unlikely! No other private nursery or prepre school group would take him so it's looking more and more likely that I will have to gI've up work too or work in the evenings. We're going to trial g'parents doing the looking after for a couple of months but I think it might be too much for them. He's so heavy now, they're struggling to lift him and he won't sit in a pram. But everything works itself out in the end!

Yes its hard to know whats the right thing to do about work. My job is badly paid but its an area it took me a while to get into because of having had four years off caring for dd and could be good career wise. OTOH I could earn more doing less career enahancing but better paid work but it would feel a bit like throwing away my hard work-I want another baby though and with all the stuff with dd maybe now isn't time to be building my career.

Ooh good luck with the statementing, we have done well with dd's school I feel and am cautiously hopeful about september. I would think all nurseries have to make adjustments for children with special needs and shouldn't be saying they can't take him? Can see why you wouldn't want to get him settled then move him though. My parents have dd after playgroup atm and in holidays-this is my first summer working and I am feeling extreme guilt at them having her three full days a week esp as she can also be very physical to look after due to needing lifting and general running off stuff so I don't think it will work long term but its good in that I don't worry about dd when I am at work as I know she is happy and they will look after her.

Yes I thought that too but I've phoned loads and all said no. The one he was in when I initially went back to work - he was 1 so the delays weren't just as obvious - met with us and then had a 'regional' meeting about it but decided that the adjustments required would be too much for them to handle. They are a private nursery and the most expensive in the area, all the church run/govt subsidised were a definite no. One church run one quite far away said they never say no to any child but then proceeded to tell me about an SN child they had last year who 'was so much work we were glad to see the back of her' I thought no thanks I don't want you thinking about my child like that. She sent out the reg form with a note saying - we learn as much from disabled children as we can teach them' which made me feel slightly ill, although I'm sure she meant well.

I'm in a strange position due to a restructure while I was on maternity leave I ended up with a less responsible job at my higher salary. I'd never get something like that again - it suits so well, no stress, good pay but needs must. Like you I'm feeling terribly guilty at the thought of relying on g'parents for the three days! I'd be so over the moon if he got this nursery place!

Hello. I posted on this thread a couple of months back about my DS (5 months) who is developmentally delayed, has some dysmorphic features and hypospadias. I have been in total denial ever since and haven't been back - so sorry to those who responded to me!

DS has been having physio privately for 9 weeks now and we saw the paediatrician at the Evelina on Thursday who agreed with the need to investigate DS further and has ordered a whole load of tests. I'm just looking for some advice really on what to expect from the first stage of testing? I was so overwhelmed on Thursday I forgot to ask about timescales etc.

They took blood and urine samples on Thurs. Paed said he would also be ordering a brainscan and referring to neurologist and their own physio. We see the paed again in October.

It sounds like he is being fairly thorough, but when asked he didn't mention anything specific that they are testing for. I'm confused now about what they are looking for in DS and what the next steps will be. How long to blood and urine test results tend to take? Will they wait until our next paed appt to tell us? I'm not sure I want to wait that long...

used2bethin I'm with you on just wanting to know what it is so we can face it.

Oh 1980 that sounds just awful about nurseries and I am shocked they can get away with that. I looked around a private school when dd was two and a half as a few friends were sending theior kids to the nursery bit and it was jjust up the road-they were awful-said she could only go once potty trained and that if I put her needs on paper they would let me know what they can accomodate. Such a contrast to her playgroup who had the attitude that they would find a way to meet her needs and were very keen to learn etc. I totally agree about then thinking well I don't want that for her then I couldn't get over how frosty they were. that does sound a great deal with work! Mine is hard going tbh as I feel I am lagging behind and not great at it a lot of the time.

Oh when that school was so awful to me about dd's needs I rang our local childrens information service and they were encouraging me to ring ofsted so they shouldnt be saying things like that- I was same as you though just thought well why on earth would I force them to take her it would be a nightmare.

Hi crazycat, poor you I empathise completely with the denial I go through phases of it too, in fact I swing between that and reality a lot tbh.

Test resultys vary. When my dd was born everything was done urgently-some tests results came back in a few days others were a week or more but generally it is more like months in my experience since. Is it an MRI you are waiting for too? I think the results are quick from that too, when is it booked for?

Hi Crazycat - welcome back! Most of us dip in and out of here! But I went through quite a few months of despair and denial too around the same time I joined the SN board and it has helped immensely.

On another thread we were talking about the various tests and the not knowing what exactly they are testing for. I think the problem is most of the time they are unsure and are hoping the blood test levels will point them in the right direction esp with babies and little ones whfn their appearance isnt giving any clues. On average our results have taken 6 weeks to 3 months to be returned. DS has GDD and testing began at 11 months. It's gone something like this - muscular dystrophy, fragile x, MRI, karotype, metabolic, EEG, mircodeletions, microarray. We're currently waiting for genome sequencing. DS is 2.8 this month with no dx yet although confirmation that the cause is genetic due to his dysmorphic features and wide spaced teeth. Is your Paed thinking a genetic cause?