Posted at: 09/08/2009 7:12 PM
By: Axel Gumbel

Medical Edge: Newborn Screening

(ABC 6 NEWS) -- Few words can capture the grief a family feels when they lose a child.

The family you're about to meet said good-bye to their two-year-old after she died from a rare genetic disorder.

Little Allison Luken never got to meet her big sister Makayla.

You see Makayla was born with a genetic disorder that caused her central nervous system to fail.

Makayla's mom Stacy Pike watched her baby daughter slowly lose the ability to eat, walk or move at all.

But if you looked deep into Makayla's eyes, grandma Susan Rosenau says, you'd see the wonderful little girl within.

Susan and her husband Paul are teaming up with doctors at Mayo Clinic to encourage the expansion of newborn screening to detect more treatable genetic disorders.

Dr. Piero Rinaldo says screening is simple to do.

Babies get a heel stick to retrieve three, four or five drops of blood.

Dr. Dietrich Matern says Minnesota screens for 54 genetic disorders, the entire panel recommended by the American College of Medical Genetics.

Some of these diseases can be treated if caught early.

But, still babies die because there are diseases that are not screened.

Makayla's family is working to change that.

The Rosenau's hope that the memory of Makayla's short life will now help save the lives of others.

For More Information: http://www.mayoclinic.org/metabolic-disorders/testing.html