December 19, 2004

From Father's Day Party To Experimental Cord Blood Transfusion

If you have to find out your new baby has an extremely rare, deibilitating, and potentially fatal disease, at least try to be in a family of pediatricians.

That's one lesson to learn from the story of Scott and Jill Stimell, who got the first hint that something might be wrong with their 6-month old daughter after Stimell's sister gave the baby a casual tummy grab at a Father's Day party. They're in the NYTimes today.

A quick battery of tests showed the girl had Niemann-Pick disease, which is similar to Tay-Sachs, although in an extremely rare, previously undetected mutation. Like Tay-Sachs, though, the disease impacts development very quickly and is usually fatal by age 3.

Another pediatrician in the family, an uncle, found an experimental program at the University of Minnesota that uses chemo and a complete cord blood transplant to treat Niemann-Pick. The Stimells started on the procedure almost immediately--no picnic itself, from the sound of things--and so far, their daughter seems to have responded well to the treatment.

Apparently, the cord blood transplant method is so much more promising for treating infant diseases because cord blood is stockpiled more readily than the alternative adult-size treatment, which requires bone marrow. And the search and wait for a suitable bone marrow donor can make all the difference in the earliest stages of life.

It's hard reading, but a gripping story. Check it out.

After Baby's Grim Diagnosis, Parents Try Drastic Treatment [NYT]

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