Any opinions welcomed!

[mikka]

After reading about another child with AS, i googled out of curiosity and found that my daughter fit a lot of the symptoms, so i called to find out if she had been tested for it yet. Our geneticist said that she hasnt been tested for that yet, and he agrees she should be, but isnt too sure about whether we are on the right track or not.



My daughter is 23 months and has just started sitting if put in a sitting position. She doesnt roll, crawl or walk yet.

She has no speech.

She isnt stiff, (which is what makes me unsure), but she has no balance or co ordination of any sort.

She is super happy, laughs a lot of the time and hand flaps when she is excited.

Her head isnt what id call small - its on the 30% and her height and weight are on the 60th, so its small in proportion to her body i guess.

She seems to be having partial seizures, she is vague and one arm punches back and forth frantically for 2 - 3 mins before stopping.

She has a flat back of head and wide mouth, drools a lot and always has something in her mouth.

When she stands (which is only with assistance), its like she has been riding a horse, her legs are really wide apart, but her feet are inturned, not out turned

She doesnt sleep well, and loves water, but then again, a lot of babies are the same!



What do you think?

I have no idea how long these test results take to come back, but in the meantime, am i way off?

[lorrie]

doesnt sound like you are way off

my son has AS deletion and doesnt have a small head isnt fair or blue eyed he is the opposite he has a slightly big head witch has the flattened area on the side/back dark hair and brown eyes and a darker skin tone not all kids with AS are fair skinned and blue eyed

would be a good idea to get her tested for AS when isaac got tested it took around 6/8 weeks before i got his results back

my son is 3 yrs and still doesnt roll, sit up without being put in that position does bum shuffle but only been doing that for the last few mths and he doesnt walk isaac has no speech and definately has no balance or good co ordination
he does laugh a lot and suffers from epilepsy and of course likes to have things in his mouth specially if there the soft toys
and as for sleep im lucky as he plays when he wakes during the night
so he doesnt disturb the rest of the household

[mikka]

Thanks for such a quick reply! Your little one sounds similar to mine.

I think they are going to run the test using the DNA they have from the last batch of tests she had done, as he told me they wouldnt need any new blood.

I think we seem to be on track, but i dont know if im seeing that just because i want the testing process to be over and done with and to know what we are dealing with!

Do children with babies generally like cuddles?
My little one will wriggle and fight it so hard, its like i dont really 'know' her, because she doesnt like to gett close to me.
She is a delight though, so content all the time, never crying to be picked up etc

[lorrie]

when isaac was little he wasnt fond of being cuddled didnt like really to be confined and wouldnt go to sleep in my arms etc
now his that little bit older it's turned it'self around he loves to be cuddled and likes to give hugs all the time he very rarely cries unless he has hurt himself
he is such a delight to have and he always makes me smile with some of the things he does or the joy he seems to get out of what his doing even if it's going in the car he just laughs with delight laughs at the wind laughs at most things really witch is good to see
my peditrition just last week told me im very lucky to have a child with a disablility thats got a great personality and such a happy demeaner not all children with disbilities have such good happy demeaner as children with AS

[nat]

hello and welcome your daughter sounds just like my daughter Teri she is 3 has a flat back of head which is small she doesnt sit yet,roll but stands when held when wearing her special boots. she has no speech but smiles and laughs alot and she is floppy too.she has epilepsy and AS del+. I hope you get your answers soon. nat.

[sallyshackcloth]

Hi and welcome, You said you felt you didn't really 'know' your daughter and she doesn't really like cuddles. That struck a chord with me as I remember saying exactly the same thing! Hannah is my third child and I just had a feeling that she was a mystery to me and I hadn't felt that with the older two. With time she came to like being cuddled and learnt to recognise familiar people but when she was little we didn't seem to have any connection. Good luck with finding some answers! Sally.

[Magster's Mom]

That comment about not `knowing`your daughter really struck a chord with me too. At 12 months old, the neurologist asked if Maggie knew I was her mom and I couldn't say yes. She wasn't a big cuddler either but she did love to be in a baby sling or carrier. But she didn`t look at my face or smile at me or try to get my attention. Over time, though, she has become such an affectionate mama`s girl! It was about 2 years before she appeared to know us as her parents and not until about age 4 or 5 that she appeared to know her favourite other people. Now, though, there is no doubt at all! I think, in hindsight, she always knew us, she just couldn`t express it.

I would strongly recommend getting an OT evaluation for sensory integration therapy. The not wanting to be cuddled is pretty classic for a child who is tactile defensive. You may find strategies that help your daughter meet her sensory needs so that she can enjoy cuddling. The book, `The Out of Sync Child`is a great place to start to read about sensory dysfuncion, how it affects the child and how to help them overcome it.

When Maggie was a year old, the neurologist ordered a bunch of genetic tests but said they would likely all come back negative because he believed Maggie was profoundly autistic. She didn`t respond to sound or to pictures and had to be tested under sedation just to prove she could see and hear. She didn`t smile at us, was very content, rarely cried. The big difference for her was when we began to understand her sensory needs and found a way to meet them. Maggie needed really deep pressure and swinging to come out of herself, and really despised light touch or any sensation on her hands or feet. Once we understood that, we could help her cope, and she`s never looked back. Now, at age 7, she`s an awesome kid and doing very well.

Good luck!

Erin
_________________
Erin Sheldon, mom to Maggie, del+, DOB 8/14/03 and Ella DOB 8/19/06. www.sheldonhickey.com

See Maggie star in her movies on YouTube: http://ca.youtube.com/user/magstsersmum

[mikka]

Hi everyone, and thank you all so much for the replies!


Well we are still waiting for any results, so dont know anything more yet.
SO far we have had a round of genetic tests looking for things like Fragile x, and who knows what else. She was tested for muscular dystrophy and CP, everything came back clear.
After that she had an MRI to make sure her brain was alright, that also came back clear.

In the last month she has started having what we think are partial seizures and our Paed wants us to try to catch them on video for him, and im telling you, its near impossible.
Obviously while im trying to make sure she is ok, its really hard to be setting up a video camera, not to mention that EVERY time its happened, its in her pram while at the shops. So i fumble with my phone trying to get to the video part and by the time i get there its all over with.


Our other daughter has sensory problems, and loves deep touch, we were doing brushing with her and she absolutely LOVED it, although it didnt work for us, it didnt help with anything, other than her feeling really good.
I think that i do see similarities sense wise, so seeing an OT would be a great idea, ill book that in once everyones open again after the xmas break.

Our other daughter also had a lot of delays, so we all assumed that the little one would have the same problem, however we discovered our first daughter has a dup on the 2nd chrom. (not in any databases, so we dont know what it means yet) and our little one doesnt have that.
And as time passes we see more and more that their problems are very different.

We've so far spent a year testing for this and testing for that, but ive never really felt like we are on the right track, this time feels right, so fingers crossed we've got it this time!

[Linda60]

one more time I learned that even though many kids were diagnosed with AS, but symptoms still can be different, is in it?
My grandson, almost 3, loves to cuddle. Without talking, he sits all of us together next to him either when he watches his favorite shows or eats, and kisses us, hugs us, blows kisses and as happy as can be. Loves to lay with me in bed, we hug and have such a good time until he falls asleep.
He has problem to stay asleep all night though, wakes up many times, and calls his mom to give him water.
His head is absolutely normal size, he walks and runs pretty fast. And loves music so much, asks all the time to put his favorite CD's. He developed his own language, plus speech therapist teaching him communication and he does very well in this area.
He has what they call Mosaic AS, which suppose to be a mild case of AS and only 20 kids in a world were diagnosed with this type of AS. His IQ is very high, and by looking at him and his behavior nobody really knows he has it. His Drs were fighting us when we took him for genetic test; they told us they are positive he doesn't have anything wrong with him, Neurologist included...
Wishing you all the best, be strong...
Linda