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?!

1980, the first time (think he came a couple of times to give dd3 a break) dd3 saw an ep he did a full developmental history, asked about sleeping patterns, toileting and eating. He then did a developmental test, think it might have been the griffiths one he used, so stuff like, build a tower with 3 bricks, where's the cup, can you feed the dolly, pick up the pencil and draw a line etc, all the stuff you've probably done before. Dd3 would have been just turned 2 at the time and didn't manage to do a lot of what was asked but he got enough info from the way she tried to do things to write quite a detailed report. This was the report we used to request statutory assessment. Hth

dd3 is also working on her upper body strength but we seem to have got so far and stopped.

Yes brilliant thanks Ninja - it's good to know what to expect! We've never had a test like the one you mention tho - DS is soooo far behind, he still can't do tasks like building a tower, the OT says it'll be a long time before he will be able to do a purposeful release :(

1980Sport DD's EP did an informal assessment as she had recently had an assessment elsewhere through ICAN. But then she just had a chat with me about what DD will need in terms of support.

She also gave me her phone number and I rang a week or so later (I ALWAYS think of questions afterwards). I asked then did she think DD will get a diagnosis or cause and she was lovely. Very understanding and said she will let me know if any further research developments relevant to DDs issues come up. She also gave some very sensible practical advice for behaviour management and has been great in meetings, making sure DD's emotional needs are met as well as therapy etc. So fingers crossed you will get someone as lovely as ours.

Meanwhile we have just been referred for an OT assessment! This is after I asked for it and the inclusion teacher assessed DD as having some sensory seeking type behaviours. I am hoping for some stuff to do at home with her and that it helps with behaviour.

Hi sport we are doing a lot of bench work at the moment which is fantastic for core strength.Then dd also has a lying board and standing frame as well as floor exercises and lying on a wedge.

Hi - EP's just been and he was great. He said he'd be recommending an SN nursery place for DS (which is what we want) and he'd also be strongly recommending the benefits of a pre-pre school setting from this Sept - we think it's unlikely as there is a massive shortage of SN nursery places let alone pre-pre places! But at least he seemed on our side!!

Did everyone see the SWAN post? Hope to see some of you there.

I'm off to buy an exercise ball - ours burst a good while back and I've been meaning to get a new one for ages I'm hoping it will help with core work!

that sounds good 1980, hope something comes up soon

Hi there everyone. The waiting game begins again....

We got a letter from the geneticist yesterday saying that the doctor in America that is studying the condition they think that ds has will test his dna for the gene that they have identified as causing the condition.

The letter quite surprised me because it has been months since we last saw the geneticist and I really didn't think that any more testing would be done because there are funding issues and there isn't a commercial test for this gene anyway.

I think that I have got to the stage where I'm not all that concerned about a diagnosis. The options that are there are so rare that there is no standard prognosis and I'm taking a 'Que Sara, Sara' attitude at the moment. If he is genetically 'programmed' to have certain problems there is not much I can do to prevent them. I can only try to catch them early to give ds the best chance. The whittled down list of possible conditions have similar features and so ds will be monitored for these health issues anyway. At the moment he is only showing hypotonia and an immune system deficiency out of a huge list. If we decide on other children we will probably just take it that there is a 1 in 4 risk of it happening again.

Hi - I have been not around for quite a while. DH lost job and I have been busy working, traveling for work and jugelling life. We also went on a 3 day camping trip which was great.

Trying to catch up:
1980 - this is good news. I think a special SN spot would be great for DS and you. What is pre-pre? Hope you get it, even if it is hard.

Stillin - that's great news. I personally agree with you on the value of diagnoses, but then I shouldn't speak up, since we have one... It's really helpful for doctors, statements and for looking out for issues, but in the end everybody is different and will develop somewhat independent of the diagnosis.

Growly - I am sorry to hear that DD has still seizures. Hope the new neurologist will be helpful and knowledgable.

DD is fine - gross motorically she made a huge jump and walks now almost normal (had a very wide gait so far) - that happened on it's own without PT.
We are working hard on getting weekly speech therapy, but I think we will.
She seems to acquire words, but then not use them, which is somewhat typical for her condition. I would love to be home more so that I can work with her on using words, but right now I have no choice - I have to get the money in!

Hazy - what great news and how fast. They really put you top priority and you deserve it! Good on hearing the HB and hope the pregnancy will be more relaxed from now on.

Hi all hope everyone is well and have survived half term.Thats great news hazy hope all goes well.Hi glimmer oh poor you sorry to here about dh job must be hard trying to juggle everything.Great news about dd and her walking and good luck(think you may need it)on getting weekly speach therapy.
My dd seems to be over the worse this month although still a few blue episodes and generally being a bit moody still-oh the joys of hormones.:o

my 2 boys have kleefstra syndrome was known as 9q34.3 deletion syndrome this was diagnosed by a fish test and we got the results in 2008 a couple of months after he was born. and just last year i found out that i have a somatic mosaic 9q34.3 deletion. i am the carrier i am not affected by the deletion i have only mild features.

Hi and welcome Kaz. How old are your sons and how are they doing?
My daughter's condition is also mosaic (80% affected) and I believe this is why she is doing relatively well. So it's very interesting to me that you have a mosaic condition yourself but are only mildly affected. I am sorry to hear you passed it on to your sons. But none of us would be on this thread, would we have been given a choice...

Oh Kaz - I believe Unique has a very active kleefstra syndrome community.
They have even small conferences on a regular (?) basis. So there might be some excellent support for you there.

Hello, this is my first time on the SN board. I have a 13 week old boy who may have a chromosome disorder. We've just had a referral to a paediatrician and expect they will recommend genetic tests.

I've been reading this thread to prepare myself with what to expect from the process, and would appreciate any advice anyone can give...

DS is so young still, it's impossible to say if he has delays of any kind. He was born 2 weeks late but healthy at 7lb 6oz, apgars 10, and only had tongue tie (now snipped) and mild hypospadias (which we have a December referral for).

He was a very calm and sleepy baby, didn't wake up for ages...just fed and slept. No problems with BFing and gaining weight well. Smiled at 6 weeks and is starting to play on his playmat and interact a bit more, cooing etc...

I hope you don't mind if I list our concerns, I'd really appreciate if anyone recognises these as signs or symptoms of a particular disorder. I've read so many of the Unique leaflets my head is spinning:

• hypospadias
• plagiocephaly and torticollis
• two 'inconclusive' hearing tests although he responds to sound (back for an ABR on Tues)
• mild dysmorphic features (small almond shaped eyes - although I also have these, and small ears that you might argue are borderline low set, small mouth and chin, but not overly so...)
• possibly a slightly floppy larynx (osteopath noticed it)

I don't know how to get through these weeks, months (and potentially years) of not knowing... Has anyone experienced having a child with a number of symptoms that turned out to be nothing? Or is it more likely a given that there's something chromosomal going on here?

When our GP made the referral, he said he was doing it for two reasons. 1) the plagiocephaly and torticollis needs looking at, physio etc and 2) because we're worried and need to be reassured by someone more qualified than him.

A private paediatrician saw him yesterday (because I'm going mad waiting for NHS referral) and agreed he needs further investigation, if only to rule things out.

I am suspicious of the language used by my GP and the paediatrician we saw yesterday. I am sure they are convinced DS has a chromosomal problem but just can't say as much until we see a geneticist.

Sorry, this was very long. I am so exhausted by it all already. And have a toddler to look after at the same time who I am trying to maintain normality for. I want to enjoy my new baby but right now I feel like I'm in the pit of despair.

Hi crazy i can honestly say the waiting is the worst.So sorry to hear about ds and all his problems.I know it sounds easy but just try and be his mum at the moment and try not to worry-as i said easier said than done especially with another young one to look after.Just try and take your mind off of things and enjoy them both for who they are.My story started 10 and a half years ag,we went through five diagnosis all of which were bad enough until we got the true one which was devestating but we coped and are here to tell the tale.Just try to take one day at a time and stick around on here.x

Just to let everyone else know saw new consultant today.He was fantastic and really listened and was very thorough.DD also also had to have bloods done so that what a bit horrid.When dr gets results he is going to look at re- jigging all dd meds in the hopes of getting better control.She actually had a seizure in the room and when she came out of it clapped herself.She obviously thought she had done a good job in showing the dr what happens:o

Hi everyone not posted on here for a while!
As some of you know my ds Oliver passed away five weeks ago now. Just wanted to say we finally had a diagnosis of Williams syndrome!! Unfortunately they diagnosed him when he died!!
I just wanted to tell everyone on here to keep strong and enjoy every special moment with your special children!! And if doctors are stalling on diagnosis give them a kick up the butt!!
How silly is it when a mother has to diagnose her own child with a rare disease when the child is under so many different doctors??
But in a way I'm glad I was the one to find out what he had!!! I knew him better than anyone!!!
Love to you all! Xx

Madoldbird, I just started reading this thread and saw your message. Would you consider posting your son's picture on your page, as there are many experienced people on here who might know.

Hi gingegirl.Many thanks for those words you really are a very special person and Oliver was lucky to have such a wonderfull mum.x

gingegirl, very good advice there and lovely to see back Oliver's a gorgeous boy, he was obviously very much loved.

obviously, see you back!

Hi all. Gingegirl I think of you and Oliver often, thank you for your advice.

Growleybear how lovely of your DD!

We saw the geneticist yesterday, she said DD has microcephaly which we know and is going to do more tests on the grounds of that and her learning difficulties-she confirmed this set of issues is unrelated to her genetic condition so is lookng for another one although said nothing immediately springs to mind. So her DNA will be tested then so will ours if something is found. Still waiting on eeg results.

Oh and DD has wide thumbs and low hairline at the neck which seemed to be of interest. I have given up googling for the night as found too many conditions with DD's symptoms.

Hi CrazyCatLady just to say my daughter has a rare chromo disorder and she also had plagiocephaly and torticollis as well as laryngomalacia (sp?).

BUT I was told that lots of babies get plagio and torticollis -can be caused by how they were in the womb or as simple as their cot/moses basket always being in the same position. I always had my moses basket in the same place which meant DD always had her head turned to one side facing into the room, towards the light and the window which caused the plagio and the torticollis.

Laryngomalacia is also common in children with normal chromosomes - my DD's was pretty obvious and affected her feeding and consequent weight gain to the extent she had to be prescribed fortified milk to help her gain weight.

However, unlike your DS, my DD didn't smile at 6 weeks, made no sounds at all and was already "behind" by 13 weeks.

I think I'm probably being really clumsy here but just trying to reassure you that some of the items you list aren't necessarily anything to do with a chromo disorder.

P.s. have you had advice yet about dealing with the plagio?

Hi Everyone - we've been away on our hols so I haven't been about for awhile! We had a lovely break in Scotland, during that time we took calls from the Social Worker, Education Board, Geneticist and Physio - so you never really get a total break do you?

I'm going to go now and have a catch up on what everyone has been up to!

I have one bit of news. A few weeks ago we decided to have the Microarray done privately. There was a long long wait to have it done on the NHS as its not available at our genetics centre here in NI and we were finding it quite unbearable knowing that this test might provide the answers we have been looking for. Anyway, we got the call on Friday to say that its come back normal. So back to the drawing board for us :(