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?!

I can't believe how many people are in need of support related to this! I feel sort of bad, because to be honest, deep down I am still hoping that we will get the all clear and that DD will not have SN. But as you I am feeling the isolation such comes with even a suspicion of genetic disorders, e.g. whom do you tell and how much.

Thank you for suggesting Unique's Yellowbook.
It is excellent.
I contacted them but as "Contact a Family", you can only join if diagnosed with a specific disorder.

It seems that many of you have a different problem, namely that your children remain undiagnosed. I can see that this is even more isolating.

So for the experienced under you: I understand that the micro-array looks at sequences on a specific chromosone, not individual genes. So how many genes are typically in such a sequence? Is that a way to think about it. I know that e.g. Cystic Fibrosis is a single gene mutation and cannot be diagnosed with the micro-array. So I wonder how many other single or multiple-gene disorders cannot be diagnosed.

I am really glad we found each other.

Would like to join this thresd as dd still has no dx.
We are waiting for MRI scan but will prob do bloods if nothing found.
It has taken years for this as dd is 4.8 but Im so worried about the scan a part of me doesnt want to know whats wrong. Does anyone else feel like that?

glimmer you want the short or long explaination. you are looking at thousands of sequencing genes within that one chromosome.( am very fortunate that have a Bf who works in gentic fields but not in this country and not involved in human chromosome testing who explaine dit all to me)

Eac h lab depending on costs will decide what ones there looking at and how indepth.They will look for the most common ones found first .often theres deletion 15th and 17th chromosome seems to be one that is often found on or certainly have come across children with this more .

Sometimes samples may be sent to a differnt lab especially if they are working in depth on one paticular chromsome .Especially if your child seems to fit a paticular one but the standard microarray does not pick it up.

Just becuase the first microarray done does not pick up does not mean few years down the line something is not found .It is a very fast moving science and more is found each day how each part of a chromsome can affect people .

Glimmer i do think it must be harder for you as I know ds has sn so that wont is not a suprise at all for me .For me the hardest is not knowing why

my DD's microarray showed 2 abnormalities.

Now we are waiting for DH and I's to come back, for comparison (due april)

She has no dysmorphic features, except she is very tall, but has a host of issues, GDD, an autistic type regression, hypotonic, dyspraxia, hypermobility

Fanjo im still waiting on ds results hopefully in March which in some ways im pining my hopes on to have some answers

Hi - stillinmypjs gave me a brilliant explanation of the genetic tests on my first thread! I don't know how to cut and paste on my phone so I'll retype it!

Karotyping looks at the size shape and number of chromosomes. It is like looking at the chapters of a book to see if they are all there and in the right place!

The next level of detail is the microarray which looks at the individual words (chromosomes) to see if they are spelt correctly and in the right order.

And finally individual gene testing looks at the individual letter from one of the words.

I found this really helpful and used it to help describe the tests to family !

my ds2 has gdd tests for frag x and chromos but all came back clear just waiting to see the gene doc again

ilovesprouts im guessing they was the karotypin.Ds had the fragile x test seems to be done automatically with any boy with any sign of delays

7 dxs going!! I'm sure you feel like you're on a never ending roller coaster!

i do and i really want to know if theres something thats linking them all ;( .No one can predict anything becuase while they might know out come potenially for one there not sure how another will impact on it

So the genetic tests have been ongoing for 3.5 years!? Do they keep taking blood or can they work from one sample? Hopefully you'll get some answers this time.

ds had his first round at just gone two.They then deicded to leave it and deal with each p0roblem as they risen up.But last year i said to the paed enough.I want to know if there linked no it wont change him or his problems but it might give me some idea of his future of things that might or might not occur

So we only saw Genetics again in September who after seeing the paperwork and meeting ds turned round said hmm .Theres to may standalone dx and that its rare to ahve so many and there not linked

Fingers crossed March may finally have some answers

Ds has verbal and oral dyspraxia but very severe can only make noun sounds.But he does have unusrual pale to and then no ones sure if the hypermoblity is affecti8ng the jaw to and then the low musclde tone could be affecting the muscles in his face as well .No one knows at all if speech will come or even if one problems affecting the others

goingroundthebend4im not sure wich ones but hes had a mri brain scan all clear so far

Yes ds finally had MRI of his brain and that was all clear which then led to the micrroarray

ds dx ATM are Hypermoblity(severe)
low muscle tone (pretty severe )
epilepsy
global delay
verbal oral dyspraix
structrial facial problems (has got fancy name )
restricted growth short statue(he's a diddy is only height most 3 year olds and his legs and head out of proportion little legs big head )

and then lots of other smaller problems

micrroarray never heard of that i wonder if hes had that done

Thanks for the explanations, goingroundthebend4 and 1980Sport!
So what I am hearing here is that most of you would like to have a dx, so that your DCs problems have a name and e.g. can receive more a specific treatment.

If definitely is helpful for finding the right support groups including Unique and 'Contact a family'.

ilovessprouts - the micro-array is a relatively new technology. To my understanding
karyotyping looks only the big picture
there are disorder that it cannot detect.
If you have a suspicion, you can do a single-gene test (e.g. for cystic fibrosis or
celiac's desease), but if the symptoms are unspecific you can use the mirco-array (or array-CGH) to look at whole sequences.
It's rather expensive and probably will not be offered right away in the UK?!

I am in the US and since we have to pay for everything ourselves, the dynamic is quite different. They offer you to do everything at the very beginning, because they want to "sell" their product. So here, we have to say "enough is enough" rather than, "please do these test so that we know".
I know since I developed severe preeclampsia in both my pregnancies - once in the UK and once in the US. Here, I was tested three times a week from week 21, in the UK once after week 36 :-). So, if you don't say stop at some point, you go insane (and bancrupt ...) Maybe that's why I am so uncertain that I even want to know if there is nothing we can do. I guess I would rather spend the effort on dealing with the symptoms....

Hi everyone. Ds is 26 months and going into his 15th month of genetic testing (if you exclude the karotyping done at birth because he was born with club feet and had feeding difficulties). He had a DNA test for a particular very rare syndrome, which came back negative. That surprised everyone because all of ds's issues could have been explained by this syndrome.

The microarray that was done late last year came back as normal and when we saw the geneticist this week and she suggested that ds had an even rarer syndrome than the first one. There is no commercial test for this syndrome as it quite recently discovered and so far is only found within a small religious community. There have only been 17 cases in the whole world.
I've been quite upset about this because if ds has it, there are some really horrible, life limiting issues with this syndrome, although he shows no sign of them yet.
I would really love another child, but the geneticist said that it was much more probable that dh and I share common ancestry from the 16th century than ds's problems being caused by a random mutation in his genes. So that means a 1 in 4 chance of having another similarly affected child. I'm still thinking about this a lot.

Hi pjs - I quoted your explanation of the tests a few posts back! It's been a brilliant help to me.

What happens now if there is no test for this condition?

Glimmer - yes I'd like to know now what the cause is, we've accepted that ds has sn and that he's not going to just catch up at this stage. Knowing will help us plan for the future - up until about 6 months ago I kept telling myself he doesn't have any facial features and the paed also said she was stumped because he didn't display any features but in the last few months these have become much more apparent to me which the geneticist said would probably happen.

Hi sport, I'm glad that explanation helped, although I can't take any credit for it because it was how our lovely paed explained it to us.

Regarding further testing for ds, the geneticist is going to contact the director of the current study for the syndrome and see if he is interested in testing ds.

So you'll have another wait ahead and during that time I suppose a big decision to try and make about more dc! :(

Hi all (second post ever!) I never knew about this site 'til the story in the papers about the little girl Celyn.
Could have done with a support group when I got my boys tested about 12 yrs ago now.
Anyway being quite long in the tooth now with their condition if I can help anyone gimme a shout. My two youngest have FRAGILE X SYNDROME. They are 12 n nearly 14, both boys. The eldest was 2 and the younger boy 13 months when I got them tested. I also had to get my older kids tested for carrier status but they were clear.
Was a pretty rotten couple of years though waiting for the test results. Older kids took 6 months, younger son took 3.5 months.
Didn't even know what it was when I got the letter from our local hospital, 4 lines long. Didn't know if they would live or die, or what FXS meant.
Anyway if anyones just got their child diagnosed and is feeling a bit lost, I'll help in any way. Or visit the fragile xsociety web page fragilex.org

Hi unpa1dcar3r! I'm sure there will be many who will need your help and advice. I've been on mn for a year or so now but only posted on the sn board a couple of months back after getting confirmation that ds had a genetic condition and I've learnt so much in a short space of time and although I've got some great friends in the real world they sometimes just don't get it!

Hi Sport, yes you are right; my friends and even close relatives don't quite get that my boys might be 12 and coming up 14 but still can't go to the corner shop unacompanied, or tie their own laces, do buttons, be left alone, understand social cues, have any idea how to tell the time, write, read, entertain themselves, or know what money is worth...
However despite the fact that they can't wipe their own backsides or make themselves a sandwich they soon learnt how to break the padlock on the cupboard where we keep all their goodies!!!! There is nothing wrong with their appetites at least. :)
They learn what they want to sometimes haha.
I thought my world had ended with diagnosis. However, they teach me more every day than i will ever hope to teach them and children with FXS have this inate charm and charisma which makes them spellbinding and adored by all lucky enough to meet them. This is especially true of my two little monkeys and we can't go anywhere without them seeing someone they know to say Hi to.
Everyone compliments us on them, what charming/funny/cheeky/loving...boys you have. And I am so very proud to be their mum.