Re: We have a diagnosis at last for Stirling

[Guest guest]

,

I'm so pleased that your family finally has some closer.

Chrissy

Mom to Madison

[Guest guest]

Of course we are interested...answers are good. Best wishes,

>

> Not sure if this is of interest to anyone, but we finally have a

> confirmed diagnosis for Stirling.

>

> The geneticist was able to do it from his photographs. The UPD[7]

> test came back negative as did one on chromosome 15.

>

> He said he wanted to try another new test to see how it comes out,

> but expects another genetic negative. He will contact us again in

a

> couple of months.

>

> We are glad we finally got the diagnosis we wanted while Stirling

> was still alive, and at least it vindicates us, that he did have a

> growth problem and his size wasn't becuse I wasn't feeding him!

>

> They don't think they can link the PPH which was the cause of

death

> though, so it still looks like he had 2 very rare and unrelated

> conditions.

>

> T

> (Sharleen nonRSS, Stirling RSS 13 Oct 2004- 6 June 2005)

>

[Guest guest]

- your family will always be important to us - so, as far as

interest goes - please continue to know that you are in our thoughts

and prayers. Thank you for keeping us up-to-date.

Hope you are doing well. Let us know of course if you ever need to

chat. Hugs to you.

- H

>

> Not sure if this is of interest to anyone, but we finally have a

> confirmed diagnosis for Stirling.

>

> The geneticist was able to do it from his photographs. The UPD[7]

> test came back negative as did one on chromosome 15.

>

> He said he wanted to try another new test to see how it comes out,

> but expects another genetic negative. He will contact us again in

a

> couple of months.

>

> We are glad we finally got the diagnosis we wanted while Stirling

> was still alive, and at least it vindicates us, that he did have a

> growth problem and his size wasn't becuse I wasn't feeding him!

>

> They don't think they can link the PPH which was the cause of

death

> though, so it still looks like he had 2 very rare and unrelated

> conditions.

>

> T

> (Sharleen nonRSS, Stirling RSS 13 Oct 2004- 6 June 2005)

>

[Guest guest]

,

We are all interested. Please don't feel that you don't belong here, you do.

I feel I can somewhat relate. I was told by a geneticist that is RSS.

That was when she was 3 3/4. At 4 years 2months an endo said the same thing.

Year after that when she was 5 years 1month, Dr. H said no. We see Dr. H the

end of December to find out her blood results and bone age. I will be brining

pictures of from when she was younger and had more of " the look " to see

what Dr. H says.

When was 3 1/2 we found out she had a large hole in her heart. She had

open heart surgery to close it when she was 3 3/4. That's why saw a geneticist,

her cardiologist wanted it done before the surgery. Thank God because up until

that time we were told she will just be small.

I was told be the geneticist, and a few cardiologists, that the hole in her

heart has nothing to do with RSS.

We'll see what happens in December with Dr. H. She doesn't know why is

growing. She is not on the charts for height or weight.

I'm always thinking of you and your family

B

and Kelli

sickybear wrote:

Not sure if this is of interest to anyone, but we finally have a

confirmed diagnosis for Stirling.

The geneticist was able to do it from his photographs. The UPD[7]

test came back negative as did one on chromosome 15.

He said he wanted to try another new test to see how it comes out,

but expects another genetic negative. He will contact us again in a

couple of months.

We are glad we finally got the diagnosis we wanted while Stirling

was still alive, and at least it vindicates us, that he did have a

growth problem and his size wasn't becuse I wasn't feeding him!

They don't think they can link the PPH which was the cause of death

though, so it still looks like he had 2 very rare and unrelated

conditions.

T

(Sharleen nonRSS, Stirling RSS 13 Oct 2004- 6 June 2005)