Re: New diagnosis - Not RSS but CdLS

[Guest guest]

- It was so exciting to talk to you on the phone Monday. I

kept praying for you on Wednesday, knowing you were meeting with

this CdLS guru. So you finally have a diagnosis. I am so glad he

too feels that it is a mild case.

Please call me when you get back to Los Angeles. I am going to

email MAGIC to find out if there are any other CdLS families listed

in our " Rare Disorders " group, OK? I know you said they also have a

support group as well. Stay in touch. Love,

> I have been lurking and occassionally posting since last September

> when a geneticist suggested Claire had RSS. After reading how

> wonderful Dr. H is at confirming RSS I made an appointment to see

> her while I was in New York visiting my sister. I am so glad I

made

> the trip. She spent two and a half hours with me and told me

Claire

> does not have RSS, but she might have Cornelia de Lange Syndrome

> (CdLS). Dr. H got online and being doing research on the spot.

She

> found out who the leading researcher in the country on CdLS is and

> then called him. Dr. Krantz works at Children's Hospital in

> Philadelphia and Dr. H asked if he would see me in the next few

days

> since I was already on the East coast (I am from Los Angeles). He

> agreed. I saw him two days later and he confirmed a diagnosis of

> mild CdLS. I am so grateful to Dr. H for her time and expertise.

I

> know of few doctors who would go the extra mile for me. Dr.

Krantz

> told me there are many kids like Claire with the mild form that

> never get diagnosed because it presents so different from the

> classic form.

>

> If any of you are interested in reading about CdLS go to

> www.CdLSusa.org. These children are also small like RSS children,

> but have small heads and it affects more of their systems. There

is

> a wide range of presentation and thankfully Claire's is on the

mild

> end.

>

> I would highly encourage any of you who want a confirmed diagnosis

> of RSS to make the trip to New York. You will not regret it one

bit.

>

>

> Claire 17 months CdLS