New diagnosis - Not RSS but CdLS

[Guest guest]

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