Re: Convention/UPD7

[Guest guest]

- I am sure the scholarship will come through; we just have to

wait for the check to arrive from one of the fundraisers.... (NOTE

to everyone - there are scholarships available for NEW families,

families who have not been to the convention before; however,

because we restrict our Fund to using only 25% of the funds for

families who have had a scholarship before, there is a waiting list

for those families.)

But I want to make sure that your doctor educates you properly. A

positive UPD7 test (meaning your child incorrectly inherited BOTH

his chromosome#7s from you, mom, rather than one from mom and one

from dad) does NOT guarantee a diagnosis of RSS.

Unfortunately, matUPD7 is also found in several other growth

disorders as well; it is NOT a specific chromosomal abnormality tied

to RSS. Hence, why only about 10% of children with RSS do test

positive for matUPD7.

That being said, a positive finding is a positive thing for

difficult to diagnose children. Here is why. Many times, a matUPD7

child will have virtually all of the RSS characteristics (and NONE

or FEW of the characteristics of the other disorders related to

matUPD7). But the matUPD7 child's face often lacks the

stereotypical triangular shape -- it is often more boxy, square

like. (Studies have found this). So this child will often be left

dangling in terms of a diagnosis. The other growth disorders are

ruled out, but RSS is kind of " well, maybe. " A positive UPD7 is

more of a " icing on the cake " -- one more checkmark that leads the

geneticist to say " OK, I think it is RSS. "

Does this make sense? I hope I am explaining this the right way.

But I agree that the convention is the right place to bring him, so

that you can learn tons, and Harbison can take a look at him too.

Dayna will be in contact as soon as the fundraiser check arrives. I

believe you are first on the waiting list for " returning " families.

> Hi All,

>

> I really want to got to the convention this year!! Everything

seems to be

> falling into place for it too, we are NOT going to NY and I was

able to find

> a way to get there, we will be driving with a friend that has

family in

> chicago... Now all I need is for the scholarship to come through

we will go.

>

> Why am I so eager to go all of a sudden, you ask?? We just found

out that

> Liam is RSS.... His UPD7 test came out positive, his Dr called

with the

> results yesterday. So now I really want to go....

>

>