[creak]

Today I took ds(9 years old) to see the community pediatrician, its the 2nd time hes seen ds, last time he refered him for an assessment for DAMP or ADD & ASD. Still waiting to see that specialist.

Today he said that whilst he doesnt made the official dx he feel tom is definitly ASD probably with ADD.

Then he asked if tom had ever seen a genetic specialist as he thought tom has facial features of someone with chromosome 22 problems & that this also presented with asd & learning probs!!

First we had heard of it. He is refering him so he can be screened.

Anyone else hear of this?


We are sure he is ASD, alreay living with 2 asd children its easy to spot the signs but this chromosome thing is a bolt from the blue.

Tried to look it up on the net but its all scary & a bit confusing,

I supose he many not even have a chromosome prob & we are getting stresed over nothing!!!,

creak

[Jessica]

http://www.asdfriendly.org/board/smilies/hug.gif

Thinking of you both.

Thought I'd return the cuddle.

Traciexx

[Yorkie]

:( Sorry you're feeling so down. Just remember, even the so-called professionals get it wrong on numerous occasions. Keep chin up love.....http://www.asdfriendly.org/board/smilies/console.gif

[Esther]

Firstly, it doesn't matter if he's going to grow another head! He's your son and you love him, he loves you and nothing else matters!

Chromosome 22 is just one of the 23 pairs of chromosomes, and it (like any of them) can have defects, such as deletions, balanced translocations, unbalanced translocations, rings, inversions, duplications etc. eg defective chr21 causes Downs Syndrome, a defect in FMR1 causes Fragile X

If the doc looked at him and suspected a chr22 defect, he could be considering Velo-Cardio-Facial-Syndrome, or complete trisomy 22, when a 3rd copy of chr22 is present in every cell. Or maybe Cat Eye Syndrome, there is also DiGeorge Syndrome; forgive my patchy knowledge, but I'm not sure if that's a different name for VCFS, or a different abnormality, I do know it's also referred to as Catch 22. You could look these up on the net. Don't get worried about it though!

I would have to say, if he had a serious chr22 defect, it would not have taken 9yrs to become apparent! From what you say it sounds more likely that his brain trauma caused developmental delays (which would be consistant) and behavioural problems, triggering ASD behaviour.

(bit of a nerd :ph34r: - 2 areas fascinate me - genetics and ancient Egypt!)

[creak]

Thanks for your support, been surfing around and come up with '22q13 deletion syndrome'.

Found a site which listed the possible effects and he does have alot of them :o saying that though it doesnt change him or change how his is :) .

We love him and having just read some very bad stuff about other children feel so happy he is not like that.

Having read alot today it seems that there are so many more chromosome errors being identied that even just a few years ago noboby knew about.

I feel better from having had a read, even if it hasnt ruled it out, we will just have to wait for the referal now, goodness knows how long that will take. The paed didnt want to just have the blood test but felt we should attend the genetic clinc.

Thanks again, just sharing it all helps

:)

[Jessica]

Esther,
We know nothing about genetics in this house - but can tell you lots about ancient egypt!!!

Egypt is Jack's thing- I know all about Howard Carter etc!!! Drives me mad!!

My favourite Artist - Robert Lenkiewicz- had a large auction last weekend.

One of the items for sale was an Egyptian carved wood sarcophagus - circa 6th - 3rd centuries BC.

Jack wanted me to buy it for his xmas pressie!!!!

I went to the auction but when the price reached £4,500 thought Rob would kill me for taking the credit card to the max!!!!

Jack will have to make do with his cardboard replica I made him instead!!!!

Traciexxx

[Pink Lady]

Sue - Hope everything goes well, your little bunch of angels sound so bright. Poor little Toms sounds like he has been through so much, its a good job he has you.

Esther, Wow a genetics expert.

[Esther]

Maxine, on Nov 2 2004, 08:42 PM, said:

Esther, Wow a genetics expert.

lol. I'm far from any kind of expert on the subject! Probably understand about half of what I read! :blink: But I do enjoy learning about it http://www.asdfriendly.org/board/smilies/smartass.gif and it feels nice if a question comes up which, through sheer luck! I happen to be able to try to help with.

[Charlie]

Hi Sue


Chromosomes, chromosomes, chromosomes ...can't live without them, but they are a pain in the neck.

Hopefully the test will come back fine, but even if it doesn't there may not be a direct effect on Tom. I won't say don't worry, because worrying comes with the territory.

Take care

[beattie]

Jeanette, on Nov 3 2004, 10:59 AM, said:

Hi Sue


Chromosomes, chromosomes, chromosomes ...can't live without them, but they are a pain in the neck. 

Hopefully the test will come back fine, but even if it doesn't there may not be a direct effect on Tom.  I won't say don't worry, because worrying comes with the territory. 

Take care

Jeanette
<{POST_SNAPBACK}>

Contact "Unique" (will post a phone number if I can get one in the next couple of days) an organisation for parents of children with genetic issues - they can put you in touch with families affected by the same chromosome defects, also www.gig.org.uk they can offer support in this area.

[creak]

Thanks,

still waiting for an appointment, possibly another couple of months :(

Will let you know what happens

creak

[creak]

Update: Just had a phone call, there has been a cancelation so we have an appointment at 10.30am on Tuesday!!!!

I now have a few days to get the info together they have asked for, family photos, developmental history etc...

So glad we dont have to wait so long but a bit apprehensive too :blink:

Will let you all know how we get on

creak :)

[hectorshouse]

:applaud Great news Creak, I do hope it all goes really well for you.

HHxx :excellent

[creak]

Well, we have had the appointment.

Needless to say its inconclusive :blink:

Lots of family history taken, & loads of photos which will be shown to more genetic consultants to see if they can help. They attempted to take some blood with no magic cream :( , he was so good but No BLOOD came out so we have to go back for a blood test.

They will screen for general chromosome abnormalities and chromosome 22 deletion but they dont think these will be positive.

Evedently the signs are that ds2's condition is genetically linked but they cannot say how.

Not sure where that leaves us & his siblings :unsure:

creak :)