Has anyone heard of.....

[CardyMow]

Mosaic Down Syndrome? My DD's paediatrician has suggested that this might be what's causing all of her problems, and is referring her to a geneticist. It something like only a percentage of her cells have the trisomy? If this is what she has?? It seems that some of the effects are : congenital heart problems, higher incidence of asd, Hearing difficulties, repeated ear infections, only one crease line in the hand? (I didn't think it was weird that DD only had one and I had 2...), MLD especially with mathematics, gross and fine motor problems, and respiritory problems, And NOT always having downs features?? Now most of these (except the respiritory problems) DD has...It is really weird to think that there might be an answer out there for this, I just wondered if anyone else had heard of it? I've tried phoning the down syndrome association but I keep getting 'service unavailable'.

I am sure i have seen somebody mention that on netmums special needs forums if i can find the link to their thread do you think i be ok to post it here for you? xxx

yes - mosaic is just that it is not in every cell of the body. Generally people are less affected and might not have characteristic facial features for example. Depends on what percentage, and which cells are affected. Consequently, mosaic syndromes are more difficult to diagnoses as the cells in the sample blood might not contain any sign of it

The simian crease thing is no biggy. Plenty of people have that without any chromosomal differences. Tony Blair has it too

this is an american site

yes i have i thought dd could be?

www.down-syndrome.org/practice/179/

I'd never heard of it before, but thanks for the info. All the paed did was tell me what I've posted here, and gave me the number for the Down syndrome association (which isn't working) and told me I could look at the website for down syndrome association, which is down for maintenance atm! So I've been given a (possible) answer to what could be DD's problem, and told to get on with it basically. Much the same as when DD was dxd asd....well actually better informed than I was then, as the same paed just stuffed a handful of leaflets in my hand, without even a basic explanation then! (She is such a helpful, caring woman....).

have they made you an app with them? it can take weeks and dont be surprised if they change there minds, we go every nine months and every time we get oh we think its xxx or this and them we have to wait aagin 9 months unless they find some thing. good luck

oh the genetics are not the best people with bed side manner, my friends dd just got dx with angels and basically pushed her out of door with leaflets saying here read up on it.

Not much different to my paed then.... They ought to teach beside manner to them at medical school.....not remove that part of their brain!

Sorry to butt in but I recently read an article about a mum who waited 15 years for a dx of mosaic DS .

She was convinced her DS had DS but kept getting told he didnt. I am pretty sure he had the standard chromo test but it doesent show up.

He now competes as a top class swimmer and I think he is going for the 2012 paralympics.

(put that last bit in because he didnt qualify before he got the dx).

Don't know much, but there was a little boy with this in Ds2's old class at special school. He had none of the facial features associated with Downs except for a slightly large tongue which made his speech a little difficult to understand. He was an absolute chatterbox - sat next to him on a minibus trip once and was exhausted by the end .He was a little delayed in all areas,but far and away the most able child in the class. He moved to m/s in Year 1 and was doing very well last time I heard - the family moved away.

Found this via the Down Syndrome Association website - mosaicdownsyndrome.org/

The DSA website is working - make sure you're looking at the UK one. Their helpline number is 0845 230 0372.

chegirlsgotheartburn I READ THE SAME artical.

chegirl....where was this article? I'll try the DS website again, it was down yesterday though. cheers all.

i read the article in either that's life or take a break

it was TAB or thats life. i read it as well. They needed the diagnosis for him to join the swim team.

yes hi misdee hows your lovely family?

plodding along

hows dd? does she has a diagnosis yet? last time we spoke i dont think she did.

nope nothing as yet they have ideas at genetic i feel we may never find out!

Hi Loudlass

Yes it was in one of those trash mags. I got a bit hooked on them whilst DD was on treatment. I used to buy them all every week for us to read in hospital. I buy them everyso often because they remind me of her.

Excuses for reading crappy mags

I dont know which one it was because I when I do buy them I buy the whole flipping lot!

I have still got a few so I will look through and see if I can find it.

Trouble is with them mags, they all look the same.

DD always wanted to have her story in one. I may have to do it some day.

I have a cautionary story....tried the down syndrome association website today, got an odd error message instead of the site...I think someone's been evil as as soon as I got the error message, my virus scan said I had 995 trojan horses on my laptop . I've spent half the day cleaning my lappy up!!!! (with tech support over the phone from my baby (18yo) brother. It helps to have an AS bro who's big interest is computers & programming etc!! I am going to telephone them in the morning to let them know.

On this subject, I have been told on the phone that the waiting list to see the geneticist is 11 months. My Grandad has said he is willing to pay privately for me. How do I go about finding a private geneticist?

Yes, I have. I believe it's less common, and sometimes missed at birth (but only from a story I read in an unreliable newspaper or something!) Hope you get the answers you are looking for.

HTH a little bit

I keep seeing HTH, and it's the only abbreviation that I can't grasp...someone enlighten me please??

ns Happy to Help