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could my son at 5 years old possibly have mosaic downsyndrome??

(5 Posts)
Blessedmumov3 Fri 15-Jul-11 22:30:29

i'm new to this so dont have a clue what to do also confused and dont know which way to turn..which is why i've ended up on here for some advise.
with my son i had a really bad pregnancy and he had to be delivered at 36 weeks due to eclampsia,i only went in for tests and come home after 16 days of being kept in hospital with a baby,2 days after him being born he had a bad infection but was never told what he had to have antibiotics for 10 days also a lumber puncture and was never told of the results of that,but the antibiotics worked thats all that mattered at the time,the day i brought him home he stopped breathing while i was cleaning around..mothers instinct said check on him and when i did he was blue,my pearcing scream got help as if my partner was stood next to me and got him breathing again,took him to hospital and was told sometimes babies forget to breath and this is what must of happened no further tests as he was well when we got there luckily hes never done that agin,so maybe the doctors were right!!
he has always been a happy baby,never cried actually couldnt of asked for better untill he started missing important milestones everything was late,and the paediatrician kept saying the same autism but it just doesnt make sense not because i dont believe it or want to its just hes not like others with autism,anyway at 20 months he started crawling then 26 months walking..then he was under speech theropy for 2 sessions and the day after he was due for his next appointment woke that morning talking perfect..full sentances and everything...complete shock,but i have always known from day 1 there was something special about him and so does everyone else including doctors school ect,although he can talk perfect even used words i never use,to long for me lol,he doesnt understand the world around him even now at 5 years old hes still in nappies and doesnt know when its full at all and will happily play soaked,he wont eat foods exept cereal,chips,and chicken nuggats he still even has a bottle which is wierd because he talks so well so youd think he could understand and want to stop seeing his friends using toilets and cups but he doesnt realise what hes doing.
the paediatrician is now asking me what i think could be wrong thats how baffling his behaviour is,everyone who meets him says he looks a bit down syndrome so i looked into slight features of down syndrome and mosaic came up..time i got answers!!!things i read sounds like him..he has bad fine moto and gross motor skills and the features,he also looks completely different than my other 2 and its the features of down syndrome only slightly that makes him look different than them,im not bothered 1 bit if he has this as i will love him protect him and teach him no different,but i would like to know what im dealing with,hes under genetics every 2 years so am mentioning this at my next appointment as i had never even heard of it till recently,has anyone else been threw this or know of any 5 year olds not diagnosed or just getting diagnosed as recently he had basic genetic testing and bloods took and all was clear except anemia which is possibly caused through his lack of different food but on medicine for that.
i am comfused though as he was tongue tied at birth so could this happen with mds??he also had stigmatism at higher level,sensory issues and really bad asthma....please help as im going out of my mind,thankyou to anyone x sorry for the long post x

hannahsmummsy Fri 15-Jul-11 22:54:23

i read about a young lad who wasnt diagnosed until his teens , i will try and find the article online for you xx

TheCrunchyside Fri 15-Jul-11 22:55:42

My ds is not dx. He is 5.5 and has learning delays with suspected ASD (not classic but lots of autistic traits/features such as poor understanding of spoken word, disordered speech and problems relating with people even though very sociable).And very poor motor skills

We've only just been referred to a geneticist and he will be sent for an MRI so no answers yet.

Does you ds have support? is he a special school? does he see an OT and SALT?

We were told often they never find a reasons for the delays and disabilities and there was much resistance to the idea of sending him for any tests but we really pushed. We want to know because I worry that there is a medical component to his delays which is holding him back - he gets so tired and can't concentrate.

For you, what would be the main reason for a diagnosis?

utah Fri 15-Jul-11 22:56:09

the only thing I know about this was through a friend whose child had asd type systems but looked slightly down syndrome however the first set of genetics did not show any chromosome problems. I would make an appointment with the paed straight away and say how stressed you are, even make an appointment with your gp while waiting.

Blessedmumov3 Sat 16-Jul-11 08:34:01

hiya thanks for the replies smile
hannahsmummsy that would be brill if you could find the think though i may of read everything on google but would appreciate anything at the mo xx
thecrunchyside,he sounds alot similar to your little one he's been referred to ot but still waiting for appointment,i do get quite alot of support of school and paediatrician who also said the same we may never know why he has problems.theres also 5 other children who live close to me that also have been told they have autism off the same paed as my sons so surely they all cant have it,his school think he has autism traits aswell as he only talks about cars will play lining cars up oh and the ds but his memory is brilliant for remembering makes models even years cars were made,health visitor cames and could only see the roof and told her she has an audi haha he has no sense of danger when crossing the road runs straight out drops to the floor,he slao gets tired so he uses a pushchair when out,he has a really big lad,but looking at his face and the way he is makes me think mosaic...maybe desperate for an reason hes this way xx
hi utah quite a few people say these features are common in asd but seems to me like im being fobbed off by doctors with the asd diagnoses so many children in my area apparently with not saying they havent but something inside is telling me its something else with mine,the paed knows how i feel an agrees there is something with him she also told me on my last appointment with no explaination that she thinks he was damaged from fetus an will never get better infact come out worse as he gets older..i jut wish i knew what was going on didnt know i could see gp will will be makng an appointment monday thankyou xx

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