Re: Mom doesn't know what to think!

March 10, 2006

Our " positive " diagnosis came from our pediatric endocronologist.The

geneticist said he " thought " it was RSS and sent us to the endo. It's important,

too, for the endo to have had some experience with RSS patients. Ours said that

he had 10 or 12 in his practice.

Good luck!

Ellen, mom - grandmom to Mikey age 9. Diagnosed at 13 months.

March 10, 2006

Hi Charlene

I was never given an " official " diagnosis. All reports said " suspected RSS " and

Dr. Daneman basically said " well it's nothing else, it's all ruled out, so it

has to be RSS but we can't say definitively " It wasn't until he recommended the

growth hormone and had to write a letter to my insurance that he said " he has

RSS " (well he couldn't very well say suspected) and so THAT was the letter that

I used to get the identification " physical disability " and the IEP.

But you do realize, at this point, you do not need a formal diagnosis for an

IEP? Well that's the way I operate. If a child has needs that require some sort

of accommodations, whether there is any paper work or not, I will write up an

IEP.

So who will be the endo that your genetic doctor is waiting to hear from again?

Will it still be Daneman?

OH and for the record Charlene, Adam has no asymmetry. I have one geneticist at

North York who put in one of his reports that she found one nipple slightly

(less that a millimetre) lower than the other side. But given that no one's body

is truly symmetrical, it seems he does NOT have that trait.

When do you see the endo again?

Debby B.

Mom doesn't know what to think!

This week we took to the genetisist for our follow up. She

had her 'student' do the preliminary work up and then came in to

visit. She checked him out - asked us questions - focussed on what

characteristics he has and then told us there really is not any way

that she could give us what we came for, which was some sort of

written confirmation about RSS to present to his school so that an

IEP can be established. She said this isn't possible because there

really is no way she can say for sure - although she did comment

that what has is definately genetic. She then focussed on

some of the characteristics (phenotypes) that he doesn't possess.

She was particularly focussed on the fact that he has no apparent

asymmetry. We are absolutely frustrated as she then told us to wait

and see what the endocrinologist says. We were a bit dazed, asked

about the previous 'differential' diagnosis and were told that these

are given merely as possibilities and the possibility remains that

he has a genetic syndrome - but what it is she doesn't know. What

kind of assurances have you all received as parents (outside of

those whose children tested UPD pos)? Should we just give up and

move on and hope for the best - he has had a brilliantly healthy

winter (touch wood). I'm at a loss.

Charlene Mom to , age 4

March 10, 2006

I'm sooo sorry to hear you had such a hard time. Please, don't give

up. If your not satisfied with the doctor, go to another one and

another one, until you feel that you have found an educated doc that

is confident in his/her knowledge. Being confident in your

physician is very important.

I have a fabulous gene and he watched Coby for 9 months before he

gave us a diagnosis. But it was from birth on, he told us at 2 days

old he thought it was RSS, but would not diagnosis it until he was

100%. At about the same time we went to the MAGIC convention and

Dr. H confirmed the diagnosis. She wanted to see baby pictures

because the older, the harder to diagnosis.

We didn't see an endo until we were ready to start gh and he never

questioned the diagnosis.

There are many specialists that see Coby to this day that argues

with me that he is RSS. Coby doesn't have the typical look of RSS.

However, if you break him down into pieces he has many traits.

Although, his asymmetry is very small too.

Hang in there, keep fighting for .

March 10, 2006

Hi Charlene,

We were told that our son has RSS but the geneticist called it

a " working diagnosis " i.e. pending the development of other

information for now he could only guess that our son has RSS. That

was the letter we got. The ped. endo was more specific.

You could ask the geneticist to write a letter saying she suspects

RSS but defintely has some sort of genetic growth disorder with low

muscle tone etc. and that could benefit from OT, speech

therapy, class room aid etc. (Don't let her use the phrase " Best for

" ). The school is not required to provide the best, only what

is adequate or appropriate for him -- this is one of those IEP legal

things. This way the school can evaluate him and code him as OHI

(Other Health Impaired). Most kids are OHI. Once he is coded as OHI,

then the school can contiue on with the IEP process. Have you asked

the school (in writing) to evaluate ? Once you do, they must

respond within 45 days (I think or it could be 14).

By the way, once you start on the IEP process with the school, put as

much as you can on paper and SAVE IT! Trust me, at some point you

will need to document everything.

While IDEA can be a great help, it can also be a legal nightmare and

congress recently changed the laws even more in favor of the schools.

Another requiement of the IDEA law is that the state must establish

some sort of Parent Information oganization regarding IDEA. In NH it

is called PIC (Parent Information Center). They have classes on

dealing with IDEA and provide articles and if necessary an advocate

to help negotiate with the school. Contact your state dept. of

education to get more info.

This is still a hot topic for me since my son was just removed from

Special Ed and given a 504 (Section 504 of the ADA -- Americans with

Disabilities Act). We could not argue becasue all the testing the

school did clearly showed nothing was affecting his academic

performance. The fact that he is in the 3rd grade and doing 4th grade

(almost 5th grade) math and reading didn't help our argument about

his writing ability which is only slightly below grade level.

I hope this helps.

Ken M

>

> This week we took to the genetisist for our follow up. She

> had her 'student' do the preliminary work up and then came in to

> visit. She checked him out - asked us questions - focussed on what

> characteristics he has and then told us there really is not any way

> that she could give us what we came for, which was some sort of

> written confirmation about RSS to present to his school so that an

> IEP can be established. She said this isn't possible because there

> really is no way she can say for sure - although she did comment

> that what has is definately genetic. She then focussed on

> some of the characteristics (phenotypes) that he doesn't possess.

> She was particularly focussed on the fact that he has no apparent

> asymmetry. We are absolutely frustrated as she then told us to

wait

> and see what the endocrinologist says. We were a bit dazed, asked

> about the previous 'differential' diagnosis and were told that

these

> are given merely as possibilities and the possibility remains that

> he has a genetic syndrome - but what it is she doesn't know. What

> kind of assurances have you all received as parents (outside of

> those whose children tested UPD pos)? Should we just give up and

> move on and hope for the best - he has had a brilliantly healthy

> winter (touch wood). I'm at a loss.

> Charlene Mom to , age 4

>

March 10, 2006

Charlene,

My son Noah doesn't have any assemetry either as far as I know. I

wouldn't give up and move on. Keep on plugging and you'll get

somewhere. We didn't find out about Noah until he was 3, after tests

for everything else under the sun to see what was wrong.

I haven't kept up with all the posts, but are you considering going

to the convention to have Dr. Harbison look at ?

Keep your chin up!

Dawna

Matt 13, 11, 8 and Noah 3 RSS, GHT, Periactin

FROM THUNDER BAY, ONT!