*COULD THIS BE DOWN SYNDROME?!! *

[butty]

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.

Hi, Sorry you're having this worry. I would think that this is right, they are testing for mosaicism, where there is an extra chromosome 21 in some tissues but not others). The fact that they need to do a biopsy suggests this, as normally chromosomes would be tested in blood. Mosaicism just refers to different cells having a different genetic make-up, it doesn't imply anything about Down's, but I guess that's what your HV has been told. If he does have mosaicism it may well be that he will just have some classical DS features but not others. I think you just have to grit your teeth and wait, I'm afraid.

leesaxs, my dd's have a school friend who has sms
in fact two children at there school have sms,CAT me if you like.

Hi Onlyjoking,

Not sure how to CAT?? But you could drop me a line, at some point, i'd be interested to know what area you live in etc, as there aren't too any sms'ers about.

Hi Butty, I work in genetics and from what you've said it sounds as though they are testing for mosiac Down syndrome - as Tamum said, the fact that they need a biopsy for this sample (normally we test blood to look at chromosomes) means that they want to see a second tissue.
Could you request to see your son's chromosome result - (the paper that the lab have sent your consultant) - it should give you more information that the neurologist has bothered to.

Leesax - 'FISH' is a way of visualizing parts of chromosomes so you need to know what syndrome you suspect before you can use it - so in your dd's case I guess that either the Drs thought she had SMS features or the initial chromosome test (karyotype) showed a 'suspicious' region on 17 which was confirmed to be deleted using FISH. There are many syndromes that can be tested for using FISH but at the moment they need to be tested one at a time (although we're working on a method to test for as much as possible all in one go)

The most common reason for the chromsomes to be 'inconclusive' is that the blood sample did not give a chromosome preparation of sufficient quality - but that would mean a repeat blood test, not a biopsy!

Hope you get some good answers soon.

HI,

yes the karotype did show abnormalities in 17 ( so she had a fish test)as she was originally suspected as havinf downs syndrome because of her heart problems at birth.

Hadn't realised they had to have a specific chromosome in mind, gosh that could take a while then if have to do them one at a time!!

Butty - I've been thinking about this - there is one syndrome which has to be tested for by biopsy rather than blood chromosomes...it's very very rare..but here's a link to see if the features fit your ds.
www.pk-syndrome.org/pks_desc_e.htm

Hi guys,
thanks for all your support and messages, they are very much appreciated.
I have spoken to the neurologist to ask what they are testing for as i am getting abit wound up.
They are testing for Mosaicism, but that is all that they have told me, so for now i shall have to wait for him to go in for his MRI and biopsy which should be some time in september.
The only problem then is waiting for the results and if it takes another 8 months like last time when i thought all was good and well as advised by the pead, i shall jump on there arses and create havoc.!!!
Speak with you all soon.
Butty.XX

Greeting All

Just wanted to impart my limited knowledge

I have 2 DD's - 1st born with Down's & 2nd with ADHD

Have a friend who's DS's downs wasn't detected till he was 5+ yrs ... he has no physical characteristics at all (such a stunner)

Another friend has DS with Mosaic Down's (he only has 15% of his cells affected by the additional no 21 chromosome - the qty of affected cells can't be linked to IQ etc. as her DS is far less advanced than many kids I know

BTW, my DD is nearly 16yrs (I was 17yrs when pregnant)

All the characteristics that have been listed before are possible - BUT it is not a requirement of Down's to have any or all - my DD does have the 'typical' Down's apperance, but not the central crease on hands &/or feet

Interestingly, I know of a family where the mother had twins - boy & girl, girl born with Down's, boy not affected at all - son has the central palm crease as does the mum - DD doesn't have it though!

have a look at \link {http://www.downs-syndrome.org.uk/DSA_Faqs.aspx} where you can find the British Down Syndrom Assc FAQ page - there are many photo's too, so you can see for yourself any physical characteristics common to Downs and your DS.

Taking one day at a time is good.

When my DD was born, I received a poem from my beloved sis:
God grant me the serenity to accept the things I can not change...change the things I can...and the wisdom to know the difference.

Didn't get it then, but I understand that message now - she had a wise head on young shoulders

God bless you and keep you all safe hun, ttfn

HI butty

In some cases mosaicism can give very few clinical features, in others more- it depends on how many cells are affected. It really should not take 8 months though. Make a pain of yourself and ring up and check whether results are back frequently- it's a perfectly reasonable thing to do.

Knowing whether or not your son has mosaic DS may not make much difference to him/you- he'll still be the same little boy- but it might make it easier doing all the DLA type stuff so definitely worth knowing. And of course they'll be able to keep an eye on other medical bits and pieces that can go with DS.

Don't worry about chasing!

hi jimjams,
we already get DLA as they firstly diagnosed him with low tone cerebral palsy and global development delay.
the 8 months was from when i saw the pead to seeing the neuroligist who then explained the results of the tests done all that time ago.
we now have to go to preston to have an MRI and a biopsy of the skin tissue.
the reason for the MRI is that my sons frontal lobe is very noticably underdeveloped and therefore they now want to see how bad and if it will be a permanent delay to his learning and life skills ie: talking etc... and they also want to check his brain in more detail given the results of the CT.
I am very aware that the brain can adapt to do certain things in different areas so i am hoping that this will be the case with Dylan.
I dont care how long it takes as long as my son is happy, of which he is.
He attends a the best special school in the area and attends 5 afternoons aweek in the nursery programme which will go to morealess full time when he turns 3 in january for pre school, so i have no doubt in my mind that my son will go without or that he will struggle as he is in the best place possible and that i pushed for but it certainly has been worth it!!
Thanks for all your messages, Butty.xx

does anyone know what mosaicism is and how it can affect a childs life.
i dont want to say my son has this after all they are only testing him for it, although given the situation it may well explain a few things.
My main concern is that if it comes back positive, will there be any life changing issues for my son and the family to deal with etc....
I dont want to get myself wrapped up in the idea of it definately being this, but then again i dont want to be unprepared incase it is.
I have always researched the could be diagnosises for my own peace of mind so that when they eventually find what is wrong i can be stronger for my son and everyone else involved and have some knowledge of what to expect etc....
I dont want to come across as a silly cow that looks too much into things, just that i am a mum who is trying to keep on top of my family situ and not go through that denial thing and i dont know about this if you get what i mean.

Butty - 'mosaicism' just means that they are looking for more than one cell line - some of the child's cells would be genetically normal and others would have an abnormality...so in mosaic Down syndrome some cells would have a normal number of chromosomes and others would have an extra chromosome 21.

The effect on the child is dependant on 1) what the abnormality is, 2) What proportion of cells are affected and 3) Which tissues are affected ie. the brain, the internal organs, skin or blood or all of them.

The presence of the normal cells tends to make the prognosis better than for a child who has the abnormality in every cell - but it is likely to be different for each mosaic child due to the factors I listed above.

There are some genetic abnormalities which are only ever seen in mosaic form (like the one I did the link to earlier, which is only seen in skin/muscle) because if the abnormality was in every cell then it would be fatal before birth.

Have you found out if the neurologist has a particular syndrome in mind (Is she definately looking for mosaic Down syndrome) or just mosaicism in general (just looking for a second genetic cell line).

It might help if you remember that all of us start as a small bundle of cells and if a genetic abnormality occurs in only one cell then only the 'daughter' cells from that cell will carry the abnormality and all the others will be normal. The location of the abnormal cells and the proportion of abnormal cells depends on the point when the 'mistake' was made during the formation of the embryo.

Hope I haven't confused you more.

If you want more information you could CAT me.

Hi Bluebear,
I not quite sure as when i spoke to her last week she explained that she was doing a skin biopsy due to the abnormalities of the chromosome blood tests and then when i asked about mosaicism she said that was why they are doing the biop, but she never mentioned whether mds or not, so i am not quite sure.

Grrrrr (your neurologist is really awful!).... from reading between the lines I would guess that they've found something at a very low level in the blood tests and they're looking for it in the skin to confirm that it's a real abnormality.

As a genetic mistake can occur any time cells divide, there can be the presence of an abnormal cell or two in a blood sample that occured during the culturing of that sample - i.e. whilst it was growing in the lab. Because of this, there have to be a reasonable number of abnormal cells in the sample before they can declare it 'real mosaicism' . If the percentage of abnormal cells is very low and therefore the test is 'inconclusive' the best way to work out whether or not it is really indicating mosacism in the child is to look at a second tissue eg. skin and see if there are cells with the same abnormality there.
So if the skin biopsy doesn't show the same abnormality then any mosaicism seen in the blood sample was most likely not to indicate mosaicism in the child.

Once again,hope I haven't confused you further - and hope that your neurologist will have a better discussion with you about what they have or haven't found the next time you see her.

cheers for that blue bear.

I think that i shall start reading between the lines from now on rather than too much into things.
The only problem is that i am desperate for a diagnosis just to put my mind at rest and then to get the appropriate help and support from the organisations dealing with whatever could be.

I am a firm believer that to help yourself and family is to help those dedicated to research and parent forums etc...

When i discovered mumsnet i nearly fell off my chair as there is know one i can talk to about my problems but here i feel totally different.

Dylan gets all the appropriate help for his needs although in time i feel that certain needs will be of more focus.

He can't say anything at the mo apart from "NO" in a strange sounding manner, so i have been put forward for a makaton course by the profs and his school, the only hard thing is teaching my partner and 5 year old suspected ADHD daughter these signs, i lack concentration fromthem both to start with!!!!

Dylan understands everything that we say to him and communicates in his own way, but they say that others dont understand him like we and they do so it his for his and OTHERS benefits.!!!

anyway, rant over.

C ya later, Butty.xx

Good luck with the Makaton Butty.
We tried with ds (had hearing and speech problems) but he doesn't copy very well or look straight at people so he didn't really pick the signs up.
Dd on the other hand loves signing (but she can talk).

dylan cant speak although he can hear and understand perfectly well.
He nods for yes and shakes his head for no and also says no!!
He can give thumbs up, high five and points very well so with this in mind i feel that it could improve our comunication, and who knows when he will talk, all he does is screech and scream!!!
He also has very good eye contact of which goes in his favour.

Hi, its been a while since i posted on this thread.
Okay, we get the results on thursday.
Since my last message, obviously dylan has had an MRI, skin Biopsy and 10 other blood samples taken.
Yes they are doing biopsy due to his trisomy 21 chromosome results etc... and scan for underdeveloped frontal lobe!!
I think that it more than likely is MDS as i have spoken with family GP about the situ a while back and when i mentioned it, he just sort of agreed.
I maybe jumping the gun, but it did state on the notes that i sore but shouldn't have seen "conformation of DX"
I think they already know, but need a final check to confirm it!!!
I have also renmembered that when in the original appointment the neurologist who cant attent the appointment on thursday did say Trisomy 21!!!
I suppose it goes in one ear and outta the other.!!
Any way, when i find out i shall let you all know and really, thanks ever so much for all your past info it has been of great help to me.

Butty.xxx

Good luck for thursday and ihope you get some answers.

xx

I can only echo misdee, good luck, let us know how you get on. TC x

Hi TC,

I hope you dont mind, but i catted you before as i have a few personal questions that i wanted to ask you.

Butty.xxx

I don't mind at all, i'm pleased you did. Have rec'd and replied, but not sure exactly what you need to know so have tried to be as helpful as poss but am more than happy for you to call me at home tonight.

Cheers TC,
I will check my inbox in a mo, then log off for the day as working, but i will be back online tonight so i will cat you back then.
Many thanks,
Butty.xxx

my email is at woirk so if you email me back i'll only be able to reply tomorrow morning.
I'll be online for a bit tonight though so will check this thread again later, TC x

Cheers TC,

I've just emailed back, hopefully catch you online to night.

Butty.xxx