Guest guest Posted June 16, 2004 Report Share Posted June 16, 2004 As a new person - there is quite a lot of good information to review when participating in these types of support groups. Thank you to all for sharing your info. As far as size and GH is considered. At the suggestion of our Geneticist and our Chief Endo - we are waiting until our son turns 2 to determine whether or not he will be a good candidate for GH. He's being monitored closely until then - but, as he is progressing quite well on his own - we are waiting. Our son is 13 months but at 12 months was 27 1/4 " tall and 16#2 oz. Hope this helps. - > > 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 > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 16, 2004 Report Share Posted June 16, 2004 Thanks for that information! Lindsey's had the last test done, and it was negative. I couldn't believe it. You have been thorough alot,I'm glad you finally got the real diagnoses. How is her health and her speech? In what way, did she not have the RSS look? Jennie Quote Link to comment Share on other sites More sharing options...
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