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 I have not read the full thread but will get on to it now :)

Was wondering if anyone could advise me. My daughter has some kind of blood vessel and clotting disorder and the doctors are baffled. They put her pics and symptoms on a forum for european and american consultants and a german consultant believes she knows what it is. Anyway dd me and dh had blood took the beginning of december that were sent straight away to germany.

How long should they take to come back? I have been emailing her consultant asking if they are back and he is not replying, this is worrying me as if i email him to ask anyything else he replies straight away. So could it be he has had them back but wants to discuss them in person in our appointment in 3 weeks or could they actually be taking this long?

Hi mummytopebs - they could easily take this long! Our first tests were in sept and we only got results last week, and that was earlier than expected.
Phone the geneticist's secretary - it's easy to ignore emails but not so easy a phone call, especially if you keep calling :)

Hi - how is everybody? Up and down here - we are all recovering from a bad cold.

Hi please may I join you all? We are currently waiting for the results of genetic tests taken in November to come back. DS is 3.9, has a form of myoclonic epilepsy and a severe language delay. All other development tests have come back fine so he doesn't "fit" the pattern of usual dxs so his consultant has decided to rule out as many as possible. Didn't realise the tests took so long.

(right off to make a cuppa and read the rest of this thread....)

Welcome farming4
(passes some choccy biscuits to accompany tea :) )

All good here glimmer! Managing to get back to normal after last weeks results! Sent off our lengthy email with about a billion questions - he'll love us! So hope it's not too long until he gets back to us! Ds has orthopaedics apt this fri to look at suspected curvature of the spine - physio thinks it'll be very minor if there is one but we're hoping he just slouches!
Anyway hope you're all over the cold!
How's everyone else?

:)

Welcome farming! Yes, the tests normally take a long time. We will have a meeting with the
geneticist tomorrow. I should have a list of questions, but I don't. I think I sort of know what will happen. I am fairly sure they won't make a prognosis, especially since they already told us over the phone, that there is not a single "case" with this particular disorder.

1980 good that you send a long list of questions. And sorry I seemed so sure, but was wrong!!! The doctors should really be appreciative of you wanting to know since it's a shared responsibility, isn't it.

I have two questions for the forum:
1.) when and how do you best diagnose problems with speech and language? DD is really just starting off with the whole talking thing and while I believe in early intervention, I don't know what to look out for.

2.) Those of you who had babies after having a child with SN. How did you convince your husbands? He-he :-)

oh yes, tests can take months, not fun waiting though.

glimmer, hope all goes well today. Ask the dr to refer to SALT, 15 months isn't too early, especially if it's known your dd already has additional needs and you are concerned (?) Also ask the geneticist what the chances of this happening with the next dc are, it may be that the risk is very low, it was for dd3s syndrome, I think that played a big part. We've got just over 3 years between dd3 and ds2 so by the time dd3 reached 2 we realised that everything had settled appointment wise, we had a good routine and had room for another lo. Helps that dh is a big softie when it comes to babies

glimmer, just had a quick look and found this and this that seems to give a fairly good idea of where you dd should be SAL wise, worth a read and a further google.

glimmer, I raised the poss of sli with hv when ds was 14 mths cos he wasn't doing any "normal" babbling (3rd dc). Referred to Salt at 18mths and ds will be 4 next mth and still seeing salt every 2 wks.

As regards having more dcs - in our case I was already pg with dd2 when we realised ds2 had "problems" tbh I'm not sure we would have planned any more as ds is such hard work - so in a way I'm glad the decision was already made iykwim

Hi all. We had our meeting with the geneticist. The prognosis is exactly what I expected: hope for everything, expect nothing and wait and see how it turns out.
I know I should be happy about the first part!
We won't live in the UK, so everything is different. I think we should do SALT ASAP, and have talked to the pediatrician. She really doesn't know what to do either, but is a very good doctor, so I feel we can work together.

I guess the experts are somewhat surprised about how well DD is doing given the dx. Obviously, this is good, but somehow makes the outlook bleaker.

How's everybody?

Hi glimmer. Sorry to read about your DD's diagnosis. I hope that she continues to surprise everyone for a long time to come. I am normally a bit of an optimist and I like to think that when it comes to rare conditions, the scientists that research and write the papers are more interested in the worst case scenarios than the people who are not so badly affected. (It may not be true, but it keeps me going on the bad days.)

We had some more test results back this week. The biggest clue that the geneticists have is an acid which is present in DS's urine. DH has been in denial about this acid for some time (the original test was carried out when DS was really ill in hospital) and the geneticist agreed to retest last week. As expected the acid is still present.

Today has not been a good day as I managed to cry on the phone while talking to a complete stranger who had called to tell me that I had been turned down for carer allowance again because DS's care needs 'aren't great enough'. I am not one for public displays of emotion, but there I was in the middle of a shopping centre, talking on the phone with tears running down my face.

Not having a dx for DS just makes it so hard to get help with anything and it is so frustrating that I can not 'tick a recognised syndrome box' to get a small payment that so many other people manage to get easily. It's not even that much money, but it would really help with the physio and other therapy bills that we have to pay. (We're not in the UK and still on a waiting list for Early Intervention.)

I'm feeling better now as DS is such a lovely little boy; he can always make me smile.

glimmer, you got the how long is a piece of string prognosis then too eh I think I'd rather hear that than some of the really depressing things some are told that never actually happen. I think it's a positive thing they think she's doing so well, we had similar with dd3, her mri was really grim and they were surprised with the child stood in front of them, I think had she been dxed a lot younger then we may well have been given a really bad prognosis.

stillin, I think the same, the more serious cases have got to be more medically interesting haven't they? Certainly when I read up on dd3's syndrome it's the most severe cases that are presented but there is a very wide spectrum of level of need in reality. Do the latest reesults mean they have an idea of what's going on for your ds? Hey, don't worry about crying, it's so frustrating knowing there's help there that you should be able to access.

StillinmyPJs - I am so sorry to hear you were turned down. This is so unfair. I think you are fully entitled to cry anywhere and you had lots of reason. Did you cry because you were sad or because you were angry? I normally cry because of the latter (not recently) and it often sends the wrong message, so I say "I am angry by the way, not sad".

Yes, I think you are right with what makes it into the scientific papers. Also there might be people out there with 'mild' forms, that are never diagnosed and so don't make it into the literature. I do appreciate more having a dx.

Today I realized for the first time that life will continue and that I might even laugh again. I am not proud to say that a lot of my emotions are self-pity. It's that life won't be what I hoped of it. Certainly it's also about the hopes for DD's life, but mostly for mine. Pretty selfish isn't it. (But - I was up all night long comforting DD who has caught the Rota0Virus vomiting bug. Nasty.)

Hi Everyone - I'm just catching up so sorry if this is a lengthy one :)

Glimmer - Hanen, It takes two to talk book is great - its really helped me look out for the signs of communication rather than just expecting speech. Its expensive but you can get it second hand or if you get to the SALT he/she might have a copy you could borrow.

As for another baby, I too was already pregnant with DS2 before we realised the extent of DS1's difficulties. If we knew then what we know now (possible inherited condition) I'm not sure we'd have gone for no.2 and unless we find out for sure that DS1's condition is definitely not inherited we wont go for 3 even though I'd love 3 or 4. DH agrees - we would like a big family because its only us, our DC have no cousins, only two aunts and of course g'parents (who are already struggling to lift him) so we have a very small extended family and I suppose I'm hoping lots of siblings will help share out the support of DS1 when we are no longer here (although that might be unfair of me to expect that of them - not that they are even here yet )

Anyway - Sorry you are having a crap day Stillinmypjs, I would've bawled too. In fact I cry constantly speaking to anyone professional about DS1. It's a combination of frustration and anger - then I get annoyed with myself because I must look like such a tit. Can you appeal the decision?

I agree about being given the worst case scenario - I asked my GP about it and he was quick to tell me that the spectrum for all these conditions is so broad and very similar to a stroke and to remember that geneticists/neurologists are scientists they focus on the dx and often forget the family who are left to deal with the reality of what they are saying. Its great glimmer that your dd is already surprising them, that can only be good!

We had DS1's orthopedics apt today - good news no spine curvature and he also said he was expecting his tone to be much worse from what he had read but was pleasantly surprised at it being much better than he would've thought!!

We sent our list of questions to the geneticist last week and although it was lengthy, most could be answered with a yes thats right or a date ie number of weeks/months. Questions such as has he had this test, could he have this one, does this test mean... etc etc. But he phoned today to say he doesn't respond to emails and will book us in for an apt at the end of March. I don't know whether to be annoyed that he won't just type up a response to the email or pleased that he is taking the time to see us again.

I get so fed up with how we are communicated with, we have to fight for every bit of information, its impossible to get a straight answer and then random bits of life changing information are just dropped into the conversation without a second thought!! Anyway my rant over!

Glimmer I don't think you would be human if you didn't feel some self-pity. But you are right life will continue and you most definitely will laugh again xx

Told you it would be a long one - right I'm away for a drink and to watch the rugby. Have a nice weekend everyone!

I'm just re-reading my post above and the bit about the stroke doesn't make sense. I don't mean similar to the symptoms of a stroke. Just similar in that there is a vast difference of how someone is affected from one end of the spectrum to the other for a lot of conditions. He made it make sense to me at the time - I'm doing a rubbish job of sharing it, sorry!

glimmer Rotavirus is quite possibly one of the worst reasons to be awake all night. I hope that your DD has recovered and that no one else got it.

I know what you mean by the self-pity, it is completely normal. There have been times when I have felt the same, especially when I catch pitying glances from people who do not understand the situation.

You will laugh again and you may even find time to think about something that is not related to your DD's dx!

1980Sport That was my appeal :(

I was crying out of frustration because the rules have been changed and I just could not understand why it had been refused when I had got DS's paediatrician to fill out a new medical form, ticking one of the boxes that should have meant that DS qualified automatically. I told the lady on the phone that was why I was crying, not because she personally had made me sad.

The lady had been reviewing the application because I had appealed against an earlier decision.

There may be hope because later in the day I had a voicemail from her saying that following our chat she had looked at the new medical form again and had previously overlooked the 'revised medical information'. She said that she would look into it and call me back on Monday.

bigcar The new test results just confirm that DS has a certain acid in his urine (which we already knew - DH was/is in denial and pushed for the retest). There are 4 identified disorders associated with this acid, but in addition to this there is an 'undiagnosed' section too. I'm not sure where I want DS to be.

I'll finish on a positive note - DS is 26 months (with low muscle tone) and today he cruised a short distance along the sofa for the first time. Two months ago if he stood for 20 seconds it was a good day. I can not stop

Oh stillinmypjs that is fantastic news about the cruising!! I'm smiling for you too! Our ds stood at the settee completely unaided yesterday and then sat down on his bum when he was tired (normally he collapses in a heap) we were just saying he MIGHT take a step in a few months so your news has given me lots of hope!!!

As for the carers allowance hopefully the news will also be good - fingers crossed!

What's the next steps on the dx journey for you?

stillin, fantastic and good luck for tomorrow when they have read your form properly!

Hi bigcar - how's things with you?

1980, must have x post missed your good news All fine here, dd3 has an assessment at a special school on tuesday so having a panic over that and her annual review is in about 4 weeks so have paperwork to get ready, I know how to have fun! Pain in the bum for the geneticist to do that, may be he's worried you'd quote him if he puts something in writing or may be he doesn't see it as straight forward yes/no and thinks it'll throw more questions up so best have a meeting?

Headed out and missed your response bigcar.
Yes you are right probably better to meet and his answers will I'm sure throw up more questions but as you said little bit of me thinks mmmm, you're worried I'll quote you back at a later date :)

Sorry I've forgotten what age your dd3 is, is she starting school or moving from ms to sn? I've no clue how the whole school system works yet but I'll have to learn soon. Is this the school you'd like her to go to and can they refuse her. Assessment too? You definitely know how to have fun :) - lots to keep you busy. Right back to the rugby...

StillinmyPJs -- I am smiling with you on the cruising!!! Fantastic news! I hope that the will give you the carer allowance after reviewing the new medical forms. Well, at least you are narrowing in on possible causes.
In which sense is DH in denial? Does he think DS is fine?

1980Sport -- thanks for the book tip. Will check it out. Good news on the absence of the spinal problem and fab news about the unaided standing!!!
Our doctor told us that email isn't really used in the medical profession yet. I think part of it is that they can't bill you for the time they spend answering the questions. Probably the not wanting anything in writing is a reason, too. I have gotten answers in writing in the past, after saying the should charge it as a consultation. Could you asked for a copy of the records, though. That might be helpful. It's good that you will have another appointment, but it's frustrati ng that it's so long away.

It was helpful to me to read your reasons for wanting a large family. Your are describing 100% our situation and these are exactly my reasons. Besides that I just would want to have a third :-) But - I am getting old, so there is limited time here.
Luckily it seems that DS, 3.5 years, is not affected and not even a carrier. The geneticist is convinced the disorder is 'de novo', so our chances are objectively the same as everybody else's our age. (?) But they are karyotyping us, too. (Since they are interested in our karyotypes, they do it for free ...) I don't think I can convince anytime soon, but that's okay. It's still early days and I do not want to rush into anything. Also, as we all know there is no guarantee that another child would be NT...

Bigcar -- good luck for the assessment. (Hope that's the right thing to wish.) You are so knowledgable.

Hi all
My DH agrees that there is something 'not quite right' with DS, but he has been in denial about the acid marker in DS's urine. The acid points DS's diagnosis towards a small number of disorders and none of them are pleasant (the worst cases include eventual blindness, intellectual impairment and heart failure in varying degrees, in addition to the low muscle tone and immunity issues that DS already has).

DH has been holding onto the thought that as DS's original urine sample was taken when he was very sick in hospital, it may have shown an incorrect result.

The geneticist is now trying to match DS with one of the five categories that this marker has. Two have already been ruled out, leaving us with two disorders only seen in (different) religious communities and the 'we don't have any idea what it is, so we'll just lump them all together here' category.

So the next step from here is for the geneticist to contact the doctor that discovered the syndrome that is the next best fit for DS and ask him if he is interested in testing for it as there are no commercial tests available.

So we are back to waiting again.

StillinMyPJs - it sounds you are between a rock and a tough place about ds. But contacting the expert geneticist sounds like a good next step, doesn't it? Hope he will have some insights.

Men tend to deal with these things so differently, it's amazing, isn't it. DH thinks DD will the be only one with her diagnosis that won't have issues .