Re: Will Dr. H give a definite diagnosis?

[Guest guest]

Your geneticist is correct - there is no " definite " diagnosis.

However, there is what most of us would call " 99% sure " and

the " quasi. " Dr. H on her forms at the convention calls them " RSS "

(meaning she is sure), RSS? (meaning it could be but she isn't

positive) and " SGA " (meaning not RSS but definitely still small-for-

gestational age, which means same treatment, same problems).

With syndromes like RSS, where diagnoses are made by clinical

findings, it is more important than anything to have a physician who

has seen as many of these children as possible -- not just rely on a

book, or rely upon the " 3 " patients the physician has seen. Many

syndromes share multiple characteristics with RSS -- for RSS, it is

the " compilation " of the features. In the features frequency study

I am doing for our upcoming GUidebook, of the 89 children dr. H says

are " RSS " , more than 92% have 3 primary characteristics -- failure

to grow, bossed forehead and triangular shaped face.

Sorry to ramble. Dr. H has seen probably, gosh, I am guessing 300

RSS or close to RSS patients by now. Obviously hundreds more than

the average physician. So going to her is just more like she is

the " witch doctor " of RSS. Doesn't mean she is always right or

never wrong... just that she has more experience.

>

> Hi everyone. How did all of you get the RSS diagnosis? My

> daughter's genetisist told us yesterday that he will not

officially

> diagnose RSS until there is a definitive yes or no test out

there.

> Her UPD7 test came back negative and there is no other ones

> available. He has ruled out everything else to be causing her

size

> including growth hormone which is normal. He said the RSS is

based

> upon clinical findings and is a clinical diagnosis which is

different

> I guess. He said it would explain everything about her and he's

> pretty sure. She has her head size in the 50% and a small,

slightly

> triangular face with a broad wide forehead, her body percentages

are

> not on the chart. It seems to be a milder form of RSS. She is 24

> inches and up to 12lbs 15 oz at 8 1/2 months. She is devoloping

> right on target but she has a horrible appetite and I am working

so

> hard to keep her nourished, but she won't take enough, saw a

> nutritionist but the advice was not helpful!but....that's another

> story I am thinking more and more about this Dr. H and I think I

> would like to take Autumn there. Is she absolutly certain of her

> diagnosis of children? How long does it take to get an

appointment

> there? Do I have to make it many months in advance? I live in

Ohio

> but my stepmother lives in NY about 3 hours from the city and

maybe I

> can coordinate a visit. How do I get started? What is it about

her

> that makes her the best?

>

> Thanks for any info

>

>

> Mom of Autumn poss RSS and 2 crazy little boys

[Guest guest]

Thanks for the response! I would really like to see Dr. H. I'm

going to look into it.

mom to autumn

> >

> > Hi everyone. How did all of you get the RSS diagnosis? My

> > daughter's genetisist told us yesterday that he will not

> officially

> > diagnose RSS until there is a definitive yes or no test out

> there.

> > Her UPD7 test came back negative and there is no other ones

> > available. He has ruled out everything else to be causing her

> size

> > including growth hormone which is normal. He said the RSS is

> based

> > upon clinical findings and is a clinical diagnosis which is

> different

> > I guess. He said it would explain everything about her and he's

> > pretty sure. She has her head size in the 50% and a small,

> slightly

> > triangular face with a broad wide forehead, her body percentages

> are

> > not on the chart. It seems to be a milder form of RSS. She is

24

> > inches and up to 12lbs 15 oz at 8 1/2 months. She is devoloping

> > right on target but she has a horrible appetite and I am working

> so

> > hard to keep her nourished, but she won't take enough, saw a

> > nutritionist but the advice was not helpful!but....that's another

> > story I am thinking more and more about this Dr. H and I think I

> > would like to take Autumn there. Is she absolutly certain of her

> > diagnosis of children? How long does it take to get an

> appointment

> > there? Do I have to make it many months in advance? I live in

> Ohio

> > but my stepmother lives in NY about 3 hours from the city and

> maybe I

> > can coordinate a visit. How do I get started? What is it about

> her

> > that makes her the best?

> >

> > Thanks for any info

> >

> >

> > Mom of Autumn poss RSS and 2 crazy little boys