Can I join? my son has T21:21 Translocation Down Syndrome

[scallyjnr]

Hiya

I have been lurking the last few weeks and thought i'd finally come out of the shadows and join.
I have one son - he has T21:21 translocation ds. but neither me or my hubbie are carriers.
he's 13 months old now and doing great. he has no heart issues but has had bad bronchiolitis twice (needing hospital stays) and has problems with gall stones. the docs have told us the problems with the GS though are nothing to do with him having ds.
we decided to try for more kids pretty quick and i am now 31 weeks pregnant, due in sept. we had testing done on this pregnancy which we morally wrestled with for ages, but we wanted/needed to know in advance.
I am 31 by the way and live in Dublin, ireland.

Looking forward to chatting to ye

xx

[CrookshanksinJimmyChoos]

Hi

I keep an eye on the Special Needs threads as I am deaf. Don't have any experience of Downs Syndrome but wanted to welcome you to mnet and hope you find the support you need

[theheadgirl]

Welcome Scally!

My DD3 is 6 and has a 21:14 translocation DS, with neither myself or her Dad being carriers. She was also diagnosed with autism at 3 and a half (apparently 1 in 10 children with DS show autistic tendencies) She is at a lovely special school and is a little star - have a look at my photos. Is all OK with this pregnancy? Hope you are keeping well. I have two older DD aged 9 and 11 who are beautiful if rather gobby!

[aloha]

Hello! My son has Aspergers, but I know there are some lovely mnetters with children with Downs, including Thomcat who is also pregnant.

[coppertop]

Welcome to the SN board, Scally.

[2spells]

scallyjnr hello. you will get loads of help and support on here.

[saggermakersknockturnalley]

Hello scallyjnr

[thomcat]

How exciting! Hello

I have a DD who is 5 and she has Down's syndrome, she is also translocation and neither DP or I are "carriers". We were told this was really unusual, not so sure it is though. We also have a 19 month old and I'm also due in Sept.

So, loads in common, look forward to getting to know you better

[theheadgirl]

Hello Thomcat are you well? Looked at your photos - a beautiful bump!

[onlyjoking9329]

Welcome to the very lovely SN area, i have children with autism.

[kreamkrackers]

hello and welcome

my dd1 has digeorge syndrome.

[mymatemax]

Hello, hope you find lots of support here

[eidsvold]

hiya and welcome.

I have an almost 5yo dd with down syndrome - bog standard trisomy21.

I also have a 2 3/4yo dd and a 31/2 month old dd.

[scallyjnr]

thanks for the warm welcome

yes all is fine chromosome-wise on this pregnancy, but we know that doesn't equal a healthy baby, so we still have everything crossed that it all goes well in sept.

I had heard the amount of kids with ds also diagnosed with autism is 5-10%, but here in Ireland they seem very slow to dual diagnose. this is of particular interest to me as my only brother is autistic, but we think he has a learning disability that pre-curses him to autism iykwim. as he is very very sociable (he's involved in the local church, the scouts and numerous walking clubs!) and has no autistic traits apart from an amazing savante ability with numbers and dates.

thomcat that is mad you are also due in sept!
Congratulations!! we were told that the chances of being a carrier of 21:21 translocation is .5%, while with other translocations its 33%.

sorry, this has turned into a bit of a ramble! so i'll stop here.

xx

[geekgirl]

hiya scally, welcome to mumsnet

I also have a child with DS, she is 6 now (how time flies!) and a little poppet. There are some pictures of her in my profile - make sure you put some of your little chap in yours , we like baby photos here

Congratulations on the pregnancy!

[MegaLegilimens]

Hi scallyjnr

I have 4 boys and my youngest aged 2 has a yet undiagnosed condition with hypotonia and global developmental delay.

Lots of lovely people here with a wealth of experience in the many, many aspects of caring for a child with SN.

Welcome.

[theheadgirl]

Scally, I'd heard someplaces are loathe to give a dual diagnosis of DS/ASD, as all behaviour traits are put down to just being DS. However here in Sheffield they've been very supportive. I started being concerned about DD3 at around age 3, and she was diagnosed soon after. Pleased to hear your pregnancy is going well, and geekgirl is right, we need photos!
Incidentally, geekgirl, your DD with downs is the same age as mine - I loved your family photos, especially the baby ones!

[scallyjnr]

hi there

THG - what started you getting suspicious about your dd and autism, if you dont mind me asking?
even though i hate speculating, i find myself watching ds all the time to see if i can see any 'autistic traits'.
although he is very smiley and sociable and responds to his name etc

xx

[theheadgirl]

It became more obvious once she started walking at 2 and a half. Her choice of activity when mobile just struck me as "odd". She would play with her shadow for ages, would choose a coathanger or a shoe with a dangly shoelace to play with, and even now doesn't "play" with toys much, although this is improving. Also I did Makaton with her from when she was a baby, and whilst she copied me, she never used the signs to ask for anything. And then at 3 she just stopped signing - this has started to come back however in the past year or so. Hoever, she has never spoken, and I don't know if she ever will. She is sociable and smiley with familiar people, but very withdrawn with those she doesn't know, sometimes reverting to comforting behaviour such as rocking back and forth or playing with her shadow.
I have been told however that she is "atypical" for a child with ASD, but I believe, from what I've read on here, that a "typical" child with ASD is a myth! This looks a bit bleak written down. On the plus side she is loveable, boisterous, humerous, VERY physically able (could climb for England). And whilst she doesn't speak she does pat me on the back and say "ahh" !!

[scallyjnr]

thanks for replying THG, your dd sounds gorgeous.

my brother didnt speak till he was nearly 8. and his first word was 'light' - so pretty typical autistic behaviour (sorry i forgot to list that when i was mentioning him, doh!).
he loved staring at the light when he was a toddler.

our ds has two "words": 'ada-ada' for his dad and 'ah' for again. but he does like spinning things and loves dangling things - hair, shoelaces, belts etc.
its so hard to know, and he is our first so i find myself doubting everything.
only time will really tell, but its hard trying not to worry until then. I too have heard that kids with ds and asd are very sociable, so it can be tricky to diagnose.

xx

[theheadgirl]

Don't worry too much scally - I know you're looking for traits cos of your brother, but 90% of children with DS don't show signs of ASD. And its good that your DS is trying to speak- my DD3 never has done. (but its interesting to hear that your brother was 8..) Saying that we do occasionally see the very disconcerting autistic trait of "echolalia" when she repeats clearly something thats just been said - even mirroring the tone of voice!!! It doesn't happen often but when it does, it freaks us all out!

[scallyjnr]

Hi THG (hope you dont mind me abbreviating your name!)
my name is aisling btw.

thanks for the reassurance. if ds has autism it wont change who he is, and we are already besotted with him. like your dd he has such a sense of humour. he loves when you pull faces or go to tickle him. and he is the biggest flirt - he LOVES women - gives them smiles no problem.

my mum and dad had given up hope of my brother ever speaking, when suddenly at 8 he started. he is one of the chattiest people you could meet now. its funny, he rang me last night for a catch-up and it was hard to get him off the phone. he also does readings in church and is a huge huge reader of sci-fi books.

this was nearly 40 years ago so it wasnt anything to do with speech therapy or special schooling. he just started talking when he was ready.

xx

[theheadgirl]

Your boy sounds like a little star, I'm Caroline, hope to chat to you again soon xx