Guest guest Posted September 20, 2000 Report Share Posted September 20, 2000 Hello, everyone!! I haven't posted in quite some time --probably since our last Endo appt (the one that didn't go soo well). I did, however, go through the myriad postings and read your well wishes regarding that! So, thanks, everyone! And, of course, I happened to see that Max isn't feeling so well. Jodi, I really hope he gets better soon!!!! And, Jodi, I want to thank you for two things: 1. Your suggestion (a year ago) that we see Dr. Harbison in NYC. Even though we didn't 'enjoy' our visit with her, she had some good points about Jake's condition. And, 2. Your support in our taking Jake to Dr. , Geneticist at Dupont! Dr. was our official Genetics 2nd opinion on the Silver Syndrome dx. (Although Dr. H. didn't think it was RSS, I wanted a Geneticist's opinion vs. and Endo's). Well, you guessed it--Jake absolutely does NOT have RSS. After an incredibly easy visit to an easily accessible hospital with the MOST PROFESSIONAL, WARM, INTELLIGENT AND COURTEOUS group (when paged that we had arrived for our appointment, he came down immediately--thinking we had a little while to wait since they were paging him, I went to the ladies room--when I came out, Mike and Jake had already been taken to the consult room with Dr. , the Genetics counselor and a student). We were there all of an hour and a half (the counselor had taken the history verbally by phone the week before)--incredible efficiency.... and.... that was YESTERDAY!----today, I have the copy of the 10 page report in my hand--they faxed it to us and to the Pediatrician this morning. Ok, so you're all wondering....what does Jake have? First, let me say that he was one of the ones 'lumped' into the RSS category because he has some of the charac's and there is no other specific 'name' for his short stature. Basically, he absolutely does not have RSS because he does not have asymmetry, down-turned corners of the mouth nor the v-shaped face due to the craniofacial disproportion. (Something that's been brought up here before). Dr. 's impression: Prematurity, IUGR with proportionate short stature in early childhood, microcephaly (see notes below) and low-pitched, husky voice (possible vocal cord abnormality). He still has to see some x-rays that I could not get in time (and as of now, they aren't where I thought they were and seem to be missing in action!) This is to completely rule out--altho it's pretty much already ruled out based on the few he did see:Majewski osteodysplastic primordial dwarfism.---this is because of the microcephaly and the past questions about problems with his hip bones---that's why it's important for me to find the x-rays!! Re: the microcephaly---he wrote that it could be normal variation but liekly indicates that there night develop academic probelms as well as behavioral problems so early attn to these should be sought. The child study team need to do a full assessment of this child to see what his strengths are, what his weaknesses are, etc. (I LOVE HOW HE PUT STENGTHS FIRST!!!). In fact, Jake's teacher has asked that we meet with her---I wrote the note first, tho, to see if she wants to meet with us regarding his condition, etc. But, we are beginning to think maybe he should do another year of pre-k---I hate this idea---but I hate the idea more of having Jake feel like he can't do it, or that he's dumb!! He just wrote his name by himself the FIRST time the other night--he definately needs ot, I think! Also, re: the husky, raspy voice--Dr. is amazed that no other dr. has suggested we see an ENT to rule out nodules or larynx problems. Well, so that's it folks....it's been a wonderful two years on this list...I wish all of you and your families the very best of care and luck!!!! I'll stay on another day or two in case anyone has questions! SO THANKS AGAIN!!!!!!!!! Debbi, Jake's mom (for the record, he's 5 yrs., 7 mo's and 38 5/8 " tall and 29.7 lbs.) And, one other note: half the IUGR kids (if that's all it is) catch up by the age of 5 or so, and half never do. Since Jake is the weight and height and bone age of a 3 1/2 year old, I would say we're looking at a little guy. Dr. is very much against GHT for non-GHT kids and sited several reasons why. I'll answer any questions, but won't put it all out there unnecessarily. Jake's never been very fond of the whole 'shot' thing, nor have I. So, we're not going to explore it at all. Bye __________________________________________________ Quote Link to comment Share on other sites More sharing options...
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