Chromosomal/Genetic testing

[listils]

My DD2 is 3 and a half years old and has recently started Nursery. She is unable to talk altho does make sounds and uses Makaton to communicate. Tomorrow we are going for blood tests to try to ascertain why she can't talk and they are mainly testing for Fragile X and VCFS (Velo Cardio Facial Syndrome). I wondered whether anybody else had had these tests done on their child and what the process normally is, how long results take to come back, etc. She has been under SALT for the last year and saw a Paediatrician for the first time 3 months ago.

Any help/advice you can give me would be much appreciated.

Although I'm married my DH is very unsupportive and keeps his head buried in the sand. I really need to be able to talk to people who REALLY understand how I feel - helpless, lost, scared, etc!!!

Thanks

Hi! We went down the same route some time ago. Though the blood tests ruled out Fragile X they did show a balance trans location which is de novo (means DH and I are not carrier). Though the trans location is balanced and no chromosome material seems be lost(after further test to check that) - without any other reasoning it does seem to be the reason for our DD challenges. Consultants however feel she is only mildly effected. Over the years she has got lot of inputs and has coped really well and is a happy active, engaging little girl.

The results would take between a week or fortnight depending on which hospital and how detailed the test are going to be. The actual blood test process can be traumatic more for the parents than the child. The hospital staff is normally very good at distracting them.

Re husbands it seems to be a common trait - if that helps. Hopefully he will come around and give you the support you need.

Hi - we're having genetic tests done too for ds1. They've been ongoing now for 12 months. Fragile X was clear so we're onto the next set now with results due back any day now! All I can say is these tests seem to take a long long time - do keep in regular contact with the consultant/geneticist, asking at what stage the tests are at etc! I thought my dh had his head in the sand too but when I finally got the courage to really speak to him about it, it turned out he'd been looking up loads of stuff but didn't want to upset me by talking to me about it - so I think we're finally in the same place, on our way to accepting that our ds is unlikey to live independently. We still have bad days but we're in it together now! Good luck

Hi listils. My little boy has VCFS/ 22q deletion. He is now 7.

For us the results were back within the week, (he was 4 at the time) but I know of people that have had to wait weeks for genetic testing results.

Should the results come back with a diagnosis, you should be offered counselling and my advice would be to take it. My DH also dealt with it with apparent ostrich tendancies but actually he was so desperate for there not to be a problem. Getting the diagnosis meant that we had to face this head on and we did.

feel free to message me.

My DD has had genetic testing for PaX6 deletion/mutation, teh results took months to come back and when they did they were clear and we're back to square one for a diagnosis. With regards to the ostrich husband thing, my DH was and still is the same. It's not that he's pretending it's not happening or doesn't care, I think he's too scared to talk about it or even try to understand it. He's said before that he doesn't feel strong enough to face it head on but trusts that I am fighting all the way for our DD. Not much support for me but TBH all I care about is DD. He'll open up now and then and you'll be surprised at how much has actually gone in. As for the test results, keep on at the geneticist, I had to, even resorted to telling his secretary that I knew the results were back and if I didn't receive a phone call by the end of the day I would be sitting in his office the next day till he talked to me. Needless to say i got a call within 20 mins!

My DS is 14 and has never got a diagnosis. He had genetic testing when little but I had to push for him to have continued contact with the Geneticist at Guys Hospital - it seems they just drop you if they don't get a diagnosis after a few tests.

New tests have been developed over the years. 'Unique' is THE organisation for those with children who have rare chromosome abnormalities

Hi. Different story for me. DD is 16 months and too slow weight gain. Our test will take 2 months, but I think that very much depends on the specific test that is done.
Yes, it's so hard to go through this. I -- at least had never considered this even a possibility. DH is also in denial. He sais he will start thinking about this once we have a diagnosis.

I could do with an ongoing support thread. Anybody else interested? Shall I open one?
Okay will do so. Please come in and post and then we can see if there is a demand or not!

Listils, is it just the
delayed speech or are there other indications?I am still very much learning about all the different possibilities.

DS2 has numerous issues, including very delayed speech, moderate deafness, poor weight gain, frequent hospitalisation for respiratory infections and several other things. Life improved for him in terms of getting his medication sorted when he was diagnosed.

We were told it would be 8 weeks for the results as they do the FISH test for his disorder. It actually didn't at all. It's often more about how busy they are, unfortunately.

It is true that often there is no diagnosis and we had been warned that that may have been the case for us.

Thinking of you all going through the testing process - it's horrid!

For those interested in an ongoing thread,
Click here

That should have been "support thread"
www.mumsnet.com/Talk/special_needs/1130259-Support-thread-for-Chromosomal-Genetic-testing-and-diagnoses

Wow - thank you all for your responses. Today is the day that we are going for testing so am apprehensive - more about the results that the actual test. A part of me is so desperate for a result so that we can work from there but I am sure they will be clear and it will be back to square one.

I do think my DH is totally an ostrich. I was in tears the other night and he just sat there and told me that life goes on and could he have his conjugal??? Men???!!!

Matilda only has problems with speech. Her hearing was tested over a year ago and she has had the basic neurological tests by the Paed. There is absolutely nothing wrong with her receptive language and understands very complex conversation/instructions. It's a strange one!

Keep telling myself that we are incredibly lucky compared to what some parents and children have to go thro - but she's still my baby and I am so very scared for her.

Will keep you posted on our no doubt very drawn out progress!!!

Listils Hope you got on ok today.
I have a dd she is 4.8 and has development delay and speech delay.
We have got to take her for an MRI Scan in two weeks time and Im dreading it
I think they will want to do bloods if there is nothing shon on scan.
I cant wait for it to all be over.
Will keep an eye on how you get on

hi my ds2 whos 4 has gdd hes had bllod tests been testerd for frag x had a mri brain scan all come bk ok just waiting to see the gene doc again,hes non verbal ,he did not walk un till he was 2,6m he using pecs at school also hes still in nappys happydayyay i know how you feel re mri scan she will be fine its just us that worry :)

Thanks for that ilovesprouts
My dd didnt walk until 2'1 she also is still in nappies,and has just started reception with full time 1-1.
She can say a few words now probably about ten in total that can be understood.

Did the MRI take long and how sleepy was ds after?

about an hour and he went home about 9omins later he was just sleepy but he bounced bk the next day my ds2 only says a couple of words dad and mummy and the rest he just babbles love him to bits ..but hes haed work

Thanks for that
Perhaps dd will sleep through the night for a change.
We have been told dd has verbal dyspraxia she also has mild hypotonia, It would be nice to get a dx but dont want them to find anything wrong at scan
Wish they had done one years ago only doing one now because when she had last convulsion with fever she ended up in hospital for the night an doctor there said they would like to follow it up.
DD babbles a lot too and yes dont you just love them.

Hi Listils
My 2 boys have FXS. The elder boys test was a bit complicated as the local hosp tested for all sorts and after 3 months gave me the all clear on everything. But then I got a further letter out of the blue saying he had fragile x. I didn't even realise this was one of the tests and had never heard of it.
Then we had to get younger son tested, that took 3.5 months. Then my older children which came back clear, but took nearly 6 months.
So my experience is that they can take up to 6 months but should be quicker.
You can find further help from the fragile x society (fragilex.org) who will have more knowledge about genetic testing and advice, also on what to expect etc if it's positive.
They saved my life at the time!
Best wishes
Unpaid carer