Re: Re: Size -Charissa

[Guest guest]

Wow, she's bigger, and weighs more then me lol! That's wonderful that the GH

was available and helped her so much!

Was she ever tested for any other syndrome other then RSS before the test

showed her deletion? Did DR H order the test, and final question. What test was

it?

Lindsey had the ends of her chromosomes looked at and no deletions. But as I

wrote in another email yesterday he wants to do another test in a year.

In my heart I feel like Lindsey may have RSS like she's been diagnosed, but I

keep feeling like there's something else too.

IS her picture in the photo section? Can you tell me more about her?

Thanks!

Jennie

[Guest guest]

Hi Jennie,

I thought about replying off-list, but maybe this info will help someone

else down the line who thinks their child might have RSS, but finds out

it is not the correct diagnosis for them.

Charissa's first genetic test was in 1986. It was more like a test to

make sure that all chromosomes were there and nothing extra. The tests

weren't as refined then, they really couldn't look in depth at parts or

much magnification of each chromosome, and the test showed everything to

be normal. We moved a few times over the years (Southern California,

Central California, and then to Alaska) and all our Endos thought

Charissa had RSS. One of them had even studied under....um, Dr.

or Dr. Silver - I can never remember which one was on the East Coast.

This endo also knew Dr. Harbison personally, so I felt confident in him

even though he was really getting up in years when he was Charissa's

doctor. So I was really surprised when we saw Dr. H. in New York 4 years

ago & she said that on paper Charissa looked like typical RSS, and she

had many, if not most, of the characteristics, but she wasn't RSS

because she just didn't quite have " the look " .

We didn't get another genetics review back here in Alaska for nearly a

year and a half. (There are no genetics doctors here, but doctors come

up from the University of Washington in Seattle and hold genetics

clinics every 2 or 3 months for a week.) I had done alot of reasearch &

felt sure that Charissa had Kabuki Syndrome. The genetics doc agreed

that Charissa had most of the physical characteristics and was actually

a " textbook " case on paper, but in real life (here we go again....) she

just didn't quite have " the look " ! They felt she had all the

characteristics and " the look " of Velocardiofacial Syndrome (VCFS), also

known as 22q11 deletion or Di Syndrome. They ran a routine

karotype chromosome test, and also did a fluorescence in situ

hybridization (FISH) to look at the 22q11 region. Both tests came back

normal, and Charissa had no deletion at 22q11. The doctors suspected

that she was one of the 5% with VCFS who do not have the deletion. They

next did a 10p hybridization FISH analysis in case she had a VCFS

look-alike syndrome. (She didn't). They also did lysosomal enzyme

biochemical studies to " exclude a storage etiology " . This test also came

back normal. The last test they did was one that had been developed less

than a year before, a Subtelomeric chromosome (NaHep) study, also called

a Subtelomeric FISH Screen. That is the one that showed the deletion at

the tip of (17) (13.3). Charissa's blood has traveled to many labs all

over the country (Washington, Texas....) to get this information!

I haven't posted any pictures of Charissa in the " photos " section. I

could tell you alot about her, but maybe off-list would be better for

that, unless you have specific questions. You could also look over old

posts to the list by searching the archives for Charissa's name - I've

been on the list for over 5 years and used to post often. I don't post

to the list much anymore but I am always glad to answer any questions

anyone has, or share info when I can help.

in Alaska

< Re: Re: Size -Charissa

Wow, she's bigger, and weighs more then me lol! That's wonderful that

the GH

was available and helped her so much!

Was she ever tested for any other syndrome other then RSS before the

test

showed her deletion? Did DR H order the test, and final question. What

test was

it?

Lindsey had the ends of her chromosomes looked at and no deletions. But

as I

wrote in another email yesterday he wants to do another test in a year.

In my heart I feel like Lindsey may have RSS like she's been diagnosed,

but I

keep feeling like there's something else too.

IS her picture in the photo section? Can you tell me more about her?

Thanks!

Jennie