Question regarding diagnosis

[Guest guest]

Hi! I am new to the group, and had a question about diagnosis. My

endocronologist raised the possibility of RSS to me, and it has

seemed like a " right fit " for my daughter's issues (all major

symptoms present except asymmetry), and I have felt compfortable with

that diagnosis. My daughter's geneticist, whom we saw today, said he

feels like Noonan's syndrome is a better fit in terms of how she

looks and her size (she has held at about the 3-5 percentile since

birth, and he feels this is too large for RSS). After reviewing

Noonan's syndrome info, there does not seem to be a good match.

My question to the group is this: Who is likely to make the

diagnosis of RSS, in the absense of major feeding issues (my daughter

has had minor ones).

Thanks for any information you are willing to share.

na in Illinois

[Guest guest]

na,

Are you near Chicago? Would you be able to attend the MAGIC

Convention this year? It is held at the Marriott O'Hare from July

22 - 25. Dr. Madeleine Harbison will be there, offering free

consults, but I believe that all of the slots are filled. You would

have to email Salem about that one. (magicrss

@mindspring.com) I know it is really soon, but that is your best

chance to see if your daughter has RSS or not. Dr. H, as we all

call her, is one of the world's experts on RSS. She practices at

Mt. Sinai in NYC, but she does this for free every summer.

If you cannot attend the convention, then please look at the Magic

website. It is www.magicfoundation.org. And look at the pictures

in the photo section of this listserve to see if your daughter looks

like the children pictured there. Most RSS kids have the same

look. In fact, each year when I attend the convention, I can pick

out all the RSS kids. Everyone can once they know what to look

for. It's great!

I'm the mom of a now 16 year old boy with RSS. He is 5'1 " and about

103 pounds. He has a more complicated case, with lots of

dysmotility issues, but he has come a long, long way. I can't wait

for people to see him in two weeks and see how he has grown and

matured!

Please also feel free to email me privately if you would like. My

address is magicrss @hotmail.com. (I have the same beginning as

because I have been active with MAGIC for so long and we

used to run the RSS division together.) I've been through a lot

with Max and can answer a lot of questions.

I look forward to hearing from you.

Jodi Z.

(I've never seen so many Jodi's in one place before!!!)

[Guest guest]

na - to answer Jodi's question, YAHOO that you are coming to the

convention, because it will be Dr. Harbison who will probably put

the issue to rest.

I don't know much about Noonan's, but I do remember Dr. H telling me

that she was sitting at the convention a couple years ago, and saw a

child walking around with an RSS tag on, and she thought " Noonan's,

not RSS. "

So I know she knows the difference. She will tell you. I am glad

that you are seeing her on Wednesday though, just in case she thinks

it is something else - she may find other presentations at the

convention that she may think are important for you to attend!

Remember that even good geneticists may see a handful of either

disorder in their lifetime, so unless someone has multiple hands on

experience with RSS, it is tough to diagnose. Dr. H has 130+

current patients, and has probably seen more than 200 more through

the convention. When you see RSS and SGA kids over and over and

over and over again, with all their variances, it becomes easier.

Cross our fingers that you'll get an answer.

> Hi! I am new to the group, and had a question about diagnosis.

My

> endocronologist raised the possibility of RSS to me, and it has

> seemed like a " right fit " for my daughter's issues (all major

> symptoms present except asymmetry), and I have felt compfortable

with

> that diagnosis. My daughter's geneticist, whom we saw today, said

he

> feels like Noonan's syndrome is a better fit in terms of how she

> looks and her size (she has held at about the 3-5 percentile since

> birth, and he feels this is too large for RSS). After reviewing

> Noonan's syndrome info, there does not seem to be a good match.

>

> My question to the group is this: Who is likely to make the

> diagnosis of RSS, in the absense of major feeding issues (my

daughter

> has had minor ones).

>

> Thanks for any information you are willing to share.

>

> na in Illinois

[Guest guest]

na - Welcome to the group. My daughter, now 10 months today, also has had

minor feeding issues. She has gotten to be a better eater the older she has

gotten. I, like you, am also waiting for the diagnosis. It is interesting that

you brought up Noonan syndrome - when my daughter was getting evaluated at Mayo

clinic the genetecist spent about 1/2 hour on my husband thinking he maybe had

this. What a shock that was. The one feature my husband has is a wide neck -

but she also said these kids have a prominant sternum. My husband has since

followed up with getting an ultrasound of his kidneys and an echocardiogram (I

guess with noonan syndrome they have cardiac problems) anyway - definately does

not have it. I bring it up only because the look is SO different. Good Luck on

your search for answers! Jane, mom to " probable RSS " 10 months, 24 1/4

inches, 12lb 7oz going to conference -Gavin and Aidan (nonRSS)