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Original poster

*COULD THIS BE DOWN SYNDROME?!! *

53 replies

butty · 22/08/2005 11:58

hi all, i urgently need advise. As you all know my son was diagnosed with CP and global development delay, but i have recently seen the neurologist who has informed me that his frontal lobe has not developed and also that his chromasome tests have come back inconclusive therefore thay now require that he has and MRI and also a biopsy for chromosomes.I have since talked to my HV and she has advised me that if it is the chromosomes, then dylan will be classed as down syndrome, although i have never seen any attributes it has been brought to my attention that he has 2 definate physical features. He has very oval eyes of which are very wide apart(large nose bridge)and also he has a total flat head at the back. I never been worried about these before until now. If anyone could advise me on this situation it would be much appreciated.

OP posts:
Twiglett · 22/08/2005 12:03

downs syndrome is related to one distinct chromosone isn't it so I would have thought your specialist would know or not?

please ignore your HV, unless she is helpful

someone more knowledgeable will be along soon

Twiglett · 22/08/2005 12:06

just looked it up and I'm right

"All individuals with DS have extra chromosome 21 material"

so if you haven't had the diagnosis from specialists its not Downs

SleepySuzy · 22/08/2005 12:08

Down's syndrome is when someone has an extra chromosome. There is some really useful information on the Down's syndrome Association website, here for example

But I would try not to worry until you have something definate back from the neurologist.

(I used to be a learning disabilities nurse, so I know a fair bit about it).

Hope this helps, Suzy

Original poster
butty · 22/08/2005 12:15

hi, thanks for your responses. Its just a bit worrying having to go for more tests especially now the neurologist has said that the chromosomes have come back inconclusive hence the biopsy. We've been through so much already and it never seems to stop. It makes it harder as they have referred my daughter to the ADHD clinic for assesment as they feel she has it so it all seems to be going on. Not only that, they forever seem to be changing the diagnosis of my son. He's happy and thats all that matters but it is torturous having to go into hospital and leave my girl who is bad enough to start with.

OP posts:
SleepySuzy · 22/08/2005 12:17

Just try and stay strong, and feel free to come for a chat any time.

Suzy x

Original poster
butty · 22/08/2005 12:33

thanks, i will. Just take things a step at a time from now as he goes into hospital in october for the tests and the we will probably have to wait for ages for the results. It took from january when he had the last lot which my Pead said were fine, till 2 weeks ago to be seen by the neurologist who said different. I complained that i thought all was well and her reply was that it had to be her to tell me the results (8 months later!!)as she was the neurologist and my reply was that for 8 months i believed my sons brain was developing normal and that everything had come back fine, not that his frontal lobal is extremely underdeveloped to the point where a part of the brain is missing as she clearly pointed out in a diagram. Why tell you one thing and then destroy you by telling the truth many months later.???

OP posts:
SleepySuzy · 22/08/2005 12:51

That's health care professionals for you! If you think he is developing normally, I wouldn't worry. And most certainly do NOT treat him any differently. I'm sure things will be fine, as you sound like a very caring mother.

How old is he by the way?

Original poster
butty · 22/08/2005 13:00

he will be 3 on new years day. He is very happy although somewhat frustrated at times. I do not treat him any different as he fully understands me and others and although he does not speak he makes his presense and requirements very well known!!! Thank you for your kind words.

OP posts:
SleepySuzy · 22/08/2005 13:04

You are most welcome. Tried to send you a message, but your emails are switched off. Anyway, if you ever want to chat outside of here, just message me. Suzy x

Original poster
butty · 22/08/2005 13:07

i dont know how to switch my emails on for mumsnetters nor do i know how to send them to you!!! Sorry, not that great with techie things.

OP posts:
Thomcat · 22/08/2005 13:29

hi Butty, I can't diagnose your son but I can be here if you need me.
my little girl wil be 4 at Xmas and has Down's syndrome so if there is anything you'd like to ask or would like to chat, now or in the future feel free to do so with me.

Sorry everything is so unsure and unclear and hope you find peace in that area of your lives soon.

TC xx

SleepySuzy · 22/08/2005 13:33

If this link you should be able to change your settings.

Suzy x

Original poster
butty · 22/08/2005 14:08

Thanx for that. Its just not knowing that makes it difficult and i always presumed that if it was down syndrome that it would have been picked up at birth but apparantly not. Its only taken 8 months to get the test results which are inconclusive so now they want to do further tests which will take god knows how long. Talk about taking time!!! The more i think about it the more i see certain distinctive features, but that could be the way my boy is. Not all children with downs have physical features or do they? i really dont have a clue!! He has relly oval sloped slitty eyes which are abnormally far apart compared to most children and he has a very flat head at the back, but could this not be normal rather than me looking to much into things, although the pead has commented on his head and eyes in the past but never mentioned possible downs!!

OP posts:
Original poster
butty · 22/08/2005 14:16

just to say sorry if i'm sounding stereo typical, it's just that i dont know how to put things and i am far from a ignorant person that doesnt think before they speak it's just knowing how to put things in context and actually making sense without confusing myself or others!!

OP posts:
leesax · 22/08/2005 14:50

Hi,

was it a fish test that your son had?AT birth the dr's thought my daughter might have down syndrome but a fish test showed she has sms, her main characteristics are that the back of her head is flat,and forehead quite flat, wide eyes and learning difficulty, no speech and challenging behaviour. Her chromosone deletion is in 17.

not sure if this helps, but an idea i thought i'd throw your way if not Downs syndrome

Original poster
butty · 22/08/2005 15:33

Hi Leesax,

i have never heard of the fish test although my son could be described as your daughter word for word apart from he is unable to walk. What is SMS?
Find it quite hard that after getting 2 different diagnosises that they have to change there minds again. I know they are only doing there job but they are doing my head in. I have just recieved my sons statement which has classed him as severe learning and physical difficulties. At least he is at one of the best schools in the area but i feel it would help more to know the exact problem, that is if they ever give one!!

OP posts:
Thomcat · 22/08/2005 15:58

Hi Butty,
People with Down's syndrome usually have the fololowing, or some of them:

  • no nasal bone so no bridge of nose, so totally flat between eyes making them look slightly different (think ALL people with DS have this as far I know)

  • not sure about the flat head thing, never heard that before

  • learning difficulties

  • low muscle tone

  • prone to being long sighted

  • prone to hearing problems such as glue ear

  • can have mottled skin

  • can have dry skin

  • ears set lower on head

  • teeth can grow badly

  • narrow nasal passages so more prone to colds

  • extra fold of skin round back of neck

  • possibly no creases on hand except one very deep crease across middle of hand

That's all I can think of.

If you want CAT me and I'll eamil you a pic of what lottie looks like, not sure if it'll help but it might.

Anything else I can do please just ask.

Original poster
butty · 22/08/2005 16:16

Hi thomcat,
Don't know how to cat you so tell you here.
He has wide bridge that is flat(dont know about the bone although eyes very wide apart and sloped and slanty.

severe learning difficulties(statemented)

Low muscle tone (Hypotonia)

has had glue ear 3 times.

Permanent chest infections from birth to 18 months

Teeth are turned slightly inwards and has 4 V noticible sharp fangs top and bottom.

I havnt checked his palms and i dont know how to check the neck or wether i would have noticed it before.

If you cat me, i will try and learn to cat you back!!

Butty.XX

OP posts:
Original poster
butty · 22/08/2005 16:34

Ha Ha, i have learned how to cat and dont i look a pratt after it being that easy!!!!!!!!! Never mind, my brain seems to just stop without me knowing sometimes!!!!

OP posts:
fqueenzebra · 22/08/2005 16:36

If the tests came back inconclusive I would wonder about a mosaic symdrome; something like Down's syndrome (or any genetic condition) can effect parts of the body but not others. So he could have Down's syndrome in his brain but not in the rest of his body.

Original poster
butty · 22/08/2005 16:42

hi fqueenzebra, i'm not too clued up on anything at the mo, but certain things are starting to come to light. Thank you for your input, i shall have to use a dictionary to see what all these things mean!!!!!!!!

OP posts:
Dingle · 22/08/2005 16:51

Hi butty, my dd is fast approaching 4 and has DS.

A few more "signs" that may or may not be common in DS;

a large gap next to the big toe

a little finger that curves inwards

these are just features that occur more often in DS, just by having a feature doesn't mean a DX. There a plenty of NT children who have these features. I am not too aware of "other syndromes" but I do believe that some of these features are also common to them!

Like TC has said, if I can offer any advice, please just CAT me.

Dingle · 22/08/2005 16:57

Mosaic, is a type of DS as I am led to believe. Sorry if I am wrong but we diddn't really look too far into the genetics side of things as we weren't planning to have any more children after Amelia.

There a 3 genetic type of DS

the most common is trisomy 21, where there are 3 chromosome 21s

then there is translocation-occuring in about 3% of babies with DS

then there is Mosaicism, the most rare occuringin 2-3%. Some cell are formed normally, and some have the extra chromosome 21.

Thomcat · 22/08/2005 17:35

But with Mosaicism people don't usuall y have nay of the 'trait's' so this doesn't sound likely.

We should be careful about trying to 'diagnose' your DS really, we don't know him or anything about him so whatever we say on here is just us chatting, okay. having said that I know you're a worried, worn out, peed off, anxious mum and 'chatting' is good and much needed.

i'm going to CAT you now so you'll be given my email address, then we can reply to each other and I'll send you a pic of lottie./ Maybe send me one of your DS so i can see the little fella we're discussing.

So are you okay, are you worried, what's the inside of yr head like??!!

TC x

leesax · 22/08/2005 17:42

Hi Butty,

Sms is short for smith-magenis syndrome, it is a rare genetic disorde. My daughter has only just started to walk and she is 4 1/2. The fish test is a blood test that looks specifically at chromosome deletions and abnormalities. Maybe you could ask your dr, and if you email me I can tell you abit more about sms.
Also type sms into search engine and you will find info on it ( sorry can't remember the address)