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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

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