Noonan Syndrome (NS)
Support Group Introductions

Lance, Daniel, MD (as of 1/97)

I'm a senior resident in emergency medicine at the State University of New York at Buffalo. Both my wife, Susan, and my 3 1/2 year old daughter, Katie, have NS. (I also have another daughter, Amy, 6 months, without NS -- at least as far as we know.)

Katie is 3 1/2 years old, 28" tall, 23 pounds and a little ball of fire (not to mention the apple of her daddy's eye.) It took us two years before we even learned that Katie had NS, despite the fact that she rapidly fell three standard deviations below the mean on the standard growth charts and has remained there ever since. Fortunately, she doesn't have any congenital heart abnormalities or any developmental problems.

Susan didn't learn she had NS until Katie was diagnosed -- in fact our geneticist diagnosed them both simultaneously.

I've been searching for information about NS for the past two years. Unfortunately, there doesn't seem to be much definite information out there. No doubt many of you all have also run into the same frustruations.

The best information anyone has been able to give us is, in effect: "We think Katie will grow to a low normal adult height without treatment. Just be glad she doesn't have any learning disabilites or heart lesions." While this is reassuring, it's not much help in raising a child who will start kindergarten in a year and a half and yet still looks like a two year old.

I'm neither a pediatrician, an endocrinologist, a cardiologist nor a specialist in anything related to NS, so in most ways I'm just as confused as the rest of you. My medical school training didn't even mention NS. (Or maybe it did. We covered the entire field of medical genetics in one week. I can't say I remember ever hearing about it, though.)

I will be more than happy to look up articles in the medical literature for people, or to translate medical terms that may be confusing some of us. I will also be glad to contact the pediatric endocrinology, cardiology and genetics staff here at UB if anyone has specific questions.

Dan Daniel R. Lance, MD
drl@acsu.buffalo.edu
522 Aurora St.
(716)681-7635
Lancaster, NY 14086-3250
(Opinions expressed herein are my own and not those of the State University of New York at Buffalo.)

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