Active discussions

Please or to access all these features

Talk
SN children

Here are some suggested organisations that offer expert advice on special needs.

Original poster

Support thread for Chromosomal/Genetic testing and diagnoses

500 replies

glimmer · 20/01/2011 17:50

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?!

OP posts:
growlybear · 21/02/2011 14:42

Hi bigcar too early to tell really dd had quite a few episodes on saturday and has had another one today which was a bit nasty.Just wish they would hurry up and work.Thanks for asking.

growlybear · 21/02/2011 14:45

Hi shaz how exciting.And you will be helping to make a differance to others.wow.

shaz298 · 21/02/2011 19:23

It is very exciting,however still very aware we may still have no answers. Luuk has been part of several big genetic studies which came up with zilch........can live in hope though, xx

jubee · 24/02/2011 22:15

If anyone needs any info on rare chromosome abnormalities, contact Unique, dont know their phone off hand but you can find them on the internet, they are a great help.

unpa1dcar3r · 25/02/2011 10:47

Hi everyone
Not been in for a while but thought i'd say hello.
Hope everyones ok and surviving the half term!

Got our elder boys BT results back and he is anaemic which i've been saying for ages, and something about his robi something to do with his kidneys- Gilberts syndrome???? Confused so he has to have iron tablets for 3 months then further BT's.
And younger son having migraines now :( at age 12 so probably hormonal.
Like they aint got enough to cope with!

growlybear · 25/02/2011 19:26

Hi unpa1dcar3r.Yeh just about survived half term with a few seizures here and there from my dd although seems better today.Poor ds's they sure do have there fill don;t they people seem to forget that they get other problemns occuring too.Its amazing what the good old hormones do they have set my dd's epilepsy of a treat.

unpa1dcar3r · 26/02/2011 12:31

Hi Growly, yeah you're so right. We get bogged down with all the 'extras' that they deal with but sometimes we have to remember they get 'normal' illnesses too!
Anaemia does seem to run in my family from my mothers side. My eldest daughter has it too, quite badly sometimes. I am relieved it wasn't something like ME as he got poorly after a very severe infection last Feb which ended up with us rushing him to hosp (Only to be told then that they wouldn't take his blood as 'children like son are prone to temper tantrums don't you know'!!!!! I kid you not, that is what the silly girl of a doctor said to me) I won't say my reply lol.
Just hoping younger DS is not going to suffer with the migraines like I did from his age :( poor thing, they're truly awful.
My bro became epileptic at puberty- about 15 when he had his 1st seizure. He is now in his 40's and still has them. Apparently it's a fragile x thing- they either have fits from straightaway or in puberty, although my bro is only supposed to be a carrier! Confused

growlybear · 26/02/2011 14:40

Don,t know about you but i wont let junior anyone near my dd with a needle have had too many bad experiances.What a stupid thing that dr said to you just shows they really don;t get disabilities.I can only imagine your reply!!!!!!!

ilovesprouts · 26/02/2011 17:50

still waiting to see the gen doc she only comes over to halifax now/again should of seen her at xmas

growlybear · 26/02/2011 18:06

Sorry to here that ilovesprouts.Everything seems to take forever and all we want is answers.

unpa1dcar3r · 07/03/2011 08:39

Hi Growly
Imagine my reply and then imagine her jumping backwards with a look of sheer terror on her face....

We now have elder DS's iron tablets and hopefully they'll do the trick, 6 months and then another blood test.
And younger DS hasn't had a migraine for a week or so...
All good.
:)

bigcar · 07/03/2011 09:24

growly, same here, registrars don't have a clue with dd3 either! How's dd getting on, new meds working? Sounds like it's taking a bit of time.

unpa1dcar3r, Grin well hopefully that's a lesson learnt for her then! Poor ds, that's not nice, hope they're both felling better soon.

Chundle · 07/03/2011 10:58

hi all i have epilepsy fits started at puberty, my sister has narcolepsy and lupus. My DD1 has ADHD and possible aspergers and was born prem. My DD2 has developmental issues, increased echogenicity on brain ultrasound, sensory integration issues and was also born prem. The paed has told us its worth being tested for FEB gene deletion of mitrochondrial disorder not sure what these are but we will discuss at next appointment

gingegirl · 08/03/2011 08:59

im so glad to hear of people going through the same problems as we are! my son is 2 next month even though is development age is 10 months! he has gdd. he is also very small for his age, he is not walking yet and only says dad! he has some dismorfic facial features also. large open mouth, small nose wth no nasal bridge, puffy eyes with extra skin inb the corners (cant remember name for this) small chin etc.... he also suffers from pulmonary artery stenosis.
we are now waiting to see a genetisist but im sooo fed up of waiting!!!!!!!! it has been such a hard 2 years!!! appointments with SALT, physio, cardiologists, peads etc....
i have looked into williams syndrome, this fits him perfecty!!! does anyone know anything about this?

1980Sport · 08/03/2011 15:04

Hi Gingegirl - I haven't been on mumsnet for ages but thought I'd come on for a nosey and wanted to respond to you because my ds is 26 months and just over a year delayed too! Williams was mentioned by our neurologist together with Angelman Syndrome we had ourselves convinced it was Angelman but the test has come back clear. A lot of the symptoms for each rare condition overlap and you can make them all fit to a certain extent. We've now had a year of testing done and still no answers - we are waiting for the microarray cgh test and ds is also been put into a new research programme which will take 4-5 years so there will be no quick answers.

When do you expect to see the geneticist? Many on this thread have been waiting for such a long time - it's crap! :(

Going for a catch up to see what's been happening with you all.

growlybear · 08/03/2011 15:22

Hi all hard to stay if meds are working for dd's epilepsy just finished hormonal two weeks and she still had seizures.Been told today officially that dd can no longer stand and weight bear.Of course i knew that as she kept on buckling every time i did transfers between equipment but still a bit of blow to be told.Here comes the rant bit- dd saw physio 2 months ago with another physio lots of things were suggested re-scoliosis and refferals to specialist-so why why why nhas nothing been done.Have spent two and a half hours on the phone and now have arranged appointment myself.Guess the old saying if you want something done well-DO IT YOURSELF.Sorry feel better now.

mole1 · 09/03/2011 19:02

Hi all
We are back from hospital a few days ago after dd's peg operation. She seems to be fine but I guess it's going to take a while to work out a feeding schedule that works. At the moment we're just topping up her normal eating/drinking, but she seems to be reducing what she eats and drinks a bit - so I'm not sure that overall she's getting any more. But overall a big relief that she got through it ok and actually she was very very brave! [proud emoticon!]

growlybear · 09/03/2011 20:12

Thats great mole.I can remeber my dd having her peg op-really worrying time but we have never looked back really.Once you get used to it all you will be fine.Well done to your dd too.

mole1 · 09/03/2011 20:43

Thanks - sorry to hear you are having such a battle with getting what you need for your dd - it's all such a struggle all the time. Feeling exhausted - I think it's a delayed reaction from the op and all the stress/lack of sleep in the hospital.

growlybear · 10/03/2011 11:49

There is nothing worse than being in hospital with children to make you feel tired when you get out.Have a nice cuppa and look after yourself.

bigcar · 11/03/2011 09:46

hi chundle, have you got long to wait before your appointment, all the waiting is horrible isn't it?!

gingegirl, do you have an appointment, doesn't hurt to ring them and chase a little, you can always ask them to let you know of any short notice cancellations if you could do that.

1980 are you waiting for results still, our cgh took months to come back.

growly, sorry to hear that, to true about sorting it yourself!

mole, good to hear all went well, hope you find a routine for food that works soon Smile

gingegirl · 13/03/2011 09:02

thanks 1980sport! its just soooo nice to know im not the only one going through the same thing! its soooo frustrating!!!
he has had some tests done with his pead i think he had FISH test and that was clear but i have heared that that doesnt always show up williams syndrome??
i have never heared of angelman?
we are seeing pead next week so hopfully he can hurry up genetisist appointment!
im new to this so hope im doing it right?

growlybear · 13/03/2011 14:00

Hi gingegirl sounds like you are doing everything right just takes soooooo long.Good luck with the pead appointment.My dd was suspected anglemans turned out to be retts syndrome because dd regressed.

Original poster
glimmer · 13/03/2011 21:27

Hi everybody.

Sorry haven't posted for such a long time. Hi and welcome gingegirl. Sorry you have to wait so long for answers.

Wave to 1980!

Growlybear - good for taking initiative. Sorry you had to. It must be so hard having to deal with regression.
I can even begin to understand how horrible it must be for you to see your DD lose skills she once had.

Bigcar how are you. You seem to have a supportive word for everybody.

Well here everything is backwards again: DDs diagnosis is associated with delays and "mental retardation" (without exception), but she isn't showing any delays to this point. We had an official evaluation, where we didn't tell her diagnosis and she passed "within the normal range" for everything. Well, certainly we are thrilled!!! But I catch myself watching and waiting for problems and rationally it's only reasonable given the prognosis. I am sure you all wish to be in my shoes :-):-):-), but I find it sometimes hard to deal with this.

She is tiny though and I get lots of comments from other mothers. How do you respond to this? I don't want to have to explain myself to total strangers.
I know they don't mean any harm.
Some think my daughter is walking and starting to talk at 8 months because she is soo small
and are impressed :-):-):-) I normally say then "she is older than she looks", but that leads to the dreadful "how old is she - oh she's tiny" conversation.

Again, I am sure you all would love to have my problems and it's really wonderful that she is not delayed so far.

OP posts:
gingegirl · 15/03/2011 21:24

took son for echo today and again they couldnt do it b ecause he was screaming.
they said he now will have to wait a few months to get it done under sedation.
he also said he thinks it could be williams syndrome due to his features an pulmonary artery stenosis. does anyone know anybody with williams syndrome?
hi glimmer, how old is your dd?