Re: From me & Baby Tino - Thank you all for your responses!

[Guest guest]

Hi all

I know I am writing a lot lately, but Kirsten also had a " catch 22 "

chromosome test when she was born. She had a hole in her heart (VSD)

and her cardiologist suggested as we were doing chromosomes to

include a " catch 22 " . At the time we didn't have a diagnosis of BPES

yet. The test came back negative, but the syndrome involving the 22

chromosome I presume will have cardiac problems. Her VSD closed

spontaneously by 6 months.

I will do a search about this chromosome test and get back to you

all as I am now curious aswell, unless someone else already has the

answer...

Regards

Parsons

--- In blepharophimosis , " costellos " <tltne@x...>

wrote:

>

> Thats great that Tino doesn't have bleph:) but wording it as

*haha* and

> *yay* that he doesn't have bleph is a little hurtful sounding.

>

> Hope you find out what the reason is for Tinos low weight? Is

chromosome #22

> a growth gene or something??? Or could he just be VERY little for

his age,

> and catch up all of a sudden? Our son was 17 lb @ 5 months old, so

he is

> definately a wee one! Let us know how things turn out with

tests etc.....

>

> Take care:)

>

> -- blepharophimosis From me & Baby Tino - Thank you all

for your

> responses!

>

> I was finally able to read everyone's response to my post. Thank

> you all so much! We actually went to a geneticist at Hershey

> Medical Center yesterday. He does not agree with the ped. opt.

> When I mentioned the bleph. he said " no he doesn't! " haha. He got

> his measuring tool (and althought Tino was not cooperating very

> well) he said there was nothing significant in the measurements he

> got. Yay! He asked to see a picture of my husband & then came to

> the conclusion that Tino just had the ptosis & then some other big

> word having something to do with the tufts of skin in the inner

> corners of his eyes - just meaning that there is more skin there

> than " normal " . He said nothing at all to be concerned about & that

> it'll get better as Tino gets older. Unfortunately he did not have

> such good news about his eating/growing difficulties. They took 6

> viles of blood from him to see if he is missing a chromosome (#22 I

> think...) Poor kid will be 15 months old & only weighs 17 lbs!!!

> He's falling farther off the growth charts at each doctor appt. So

> althought I don't think he'll be testing that blood for bleph.

> specifically, just his measuring, he disagreed with the

> optomatrist. We have the opt. follow-up appt. in May... I'm

> thinking about cancelling it b/c I just hate the thought of telling

> someone that I didn't like their answer, so I went & got another

one

> & Dr. so- & -so says you're wrong - haha! I'll ask the ped. what she

> thinks & then decide.

> Thanks again to everyone!!!!

> & baby Tino

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