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Re: adult with rss

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Hi Amy,

Welcome to our group.

Sorry to hear about your medical problems. I hope they are resolved

soon.

As far as I know, none of these are caused by RSS. There was one

reported case of a person developing Wilm's Tumor who had RSS but

that turned out to be incorrect even though it is still reported that

way in the literature.

There is a another yahoo group of adults with RSS. Perhaps you can

ask them. Many are members of this list also. Hopefully they will

answer soon.

Anyway the adult list for RSS is:

http ://health.groups.yahoo.com/group/RSS-People/

Also, you can go to the web page for the Magic Foundation and print

out a copy of a description of RSS and bring it to your doctor.

The Magic Foundation can be found at www.magicfoundation.org

I hope this helps.

Ken M

:)

> Hi everyone!

>

> My name is Amy. I am 28 and was diagnosed with RSS in 1975 shortly

> after I was born. I was just wondering if there are any other

adults

> out there who might have some knowledge of what happens in later

life

> with an RSS patient. I am having alot of medical problems right now

> and I am a little scared. My kidneys are functioning 10% less than

> they are supposed to, I have been diagnosed with diabetes (type 1)

> and I have also been diagnosed with Scheurmann's disease which is a

> bone degenerative disease in my lower spine. I was just wondering

if

> these conditions might be related to or because of the RSS. I know

> alot of you in this group are adults who have children with RSS and

I

> really don't want to scare anyone. I am having a problem finding a

> doctor here in Oklahoma that even knows what I am talking about

when

> I tell them I have RSS. PLEASE HELP ME!!!! Please send all emails

to

> br1975ew@a... This is my main email address. Thanks so much.

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Hi..

I used to live in Oklahoma, (Owasso, about 20 min North of Tulsa) and I

don't know where in OK you are but, here's what I can help you with!

Since your losing kidney function and are also diabetic, it would be wise to

get in with a nephrologist. Dr. y of Tulsa Nephrology is really great.

(I'm a dialysis nurse, and he was one of the docs we worked with) Though you

may not ever need to be on dialysis, the sooner you find out, the better. If

it's just to prepare you ahead of time, or to head off a problem if possible,

it's still better sooner than later. I'm sorry that I don't have his office

number here anymore! But he's in the phone book.

As far as getting diagnosed, or finding a dr. who knows what you are talking

about, Dr. Billur Can-Mogadahm is great. She works out of the H.A. Chapman

Institute of Medical Genetics in Tulsa. Her number is You can try

to email her at bmogadd@..., but I am not sure that that is still

her email address. She was my son's geneticist when we lived there, and always

called me back within an hour of me leaving her a message, and really

followed up with letter writing (to insurance co's) and with calling other Drs.

to

get them to follow through with the testing that Xavier needed, even if they

didn't understand why/didn't think it was necessary. She is very receptive to

new things, and she may even have heard of it. I had moved before I found out

what RSS was, so I never spoke with her about it. I would print out as much as

you can find about -Silver...however, since there is not always a

genetic connection, it's still difficult to diagnose.

Anyway, hope this helps!

Jen

Xavier 15months, 14lbs, 27in RSS, G-tube, Fundoplacation, 27 cal Formula,

Myrilax, ST, OT, PT, FT

Emerald, 5, Non RSS

Wyatt, 4, Non RSS

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Amy,

I am also an adult with RSS. As Ken mentioned, we do have a group

that is only for affected adults called RSS People. We'd love to have

you join us! As far as your medical problems, I don't think that any

of these are associated with RSS, although you could certainly query

some of the other adults when you join that group. There have been

studies done that suggest that people born SGA (small for gestational

age) are at a higher risk for Type II diabetes, but I think you said

that you had just been diagnosed with Type I. If there are any other

questions I can try and answer for you, please don't hesitate to email

me privately at hillary.jorgensen@ colorado.edu (without the space).

Best Wishes,

Hillary

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