J37 — September 2009 —Newborn Screening

Intro: 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 two-year-old Makayla when she died from a rare genetic disorder. Many genetic disorders can be caught early if babies are screened for them soon after birth. But newborn screening did not include the disorder Makayla had. And while there's no known cure for that condition, her family is passionate about promoting newborn screening in hopes of saving lives.

LITTLE ALLISON LUKEN NEVER GOT TO MEET HER BIG SISTER MAKAYLA.

"WHAT YA DOING, MAKAYLA?"

YOU SEE MAKAYLA WAS BORN WITH A GENETIC DISORDER THAT CAUSED HER CENTRAL NERVOUS SYSTEM TO FAIL.

"SHE LOST THE ABILITY TO SMILE, LOST THE ABILITY TO COO."

MAKAYLA'S MOM STACY PIKE WATCHED HER BABY DAUGHTER SLOWLY LOSE THE ABILITY TO EAT, WALK OR MOVE AT ALL.

"SHE ESSENTIALLY WAS LIKE A WET NOODLE. SHE HAD NO MUSCLE TONE WHATSOEVER."

BUT IF YOU LOOKED DEEP INTO MAKAYLA'S EYES, GRANDMA SUSAN ROSENAU SAYS, YOU'D SEE THE WONDERFUL LITTLE GIRL WITHIN.

"EVEN THE DAY SHE PASSED AWAY I DIDN'T THINK WAS AS HARD AS THE DAY WE GOT THAT DIAGNOSIS, KNOWING THAT SHE WOULD NOT BE WITH US FOREVER."

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. "NEWBORN SCREENING SAVES LIVES. IT'S A FACT." DR. PIERO RINALDO SAYS SCREENING IS SIMPLE TO DO. BABIES GET A HEEL STICK TO RETRIEVE THREE, FOUR OR FIVE DROPS OF BLOOD. "THESE BLOOD SPOTS ARRIVE IN THE SCREENING LAB AFTER THEY WERE COLLECTED ON THE SECOND DAY OF LIFE. THE BLOOD IS SPOTTED ON THIS FILTER PAPER." 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 HELP SAVE THE LIVES OF OTHERS. "IF WE CAN SAVE ANOTHER CHILD FROM THIS, ANOTHER FAMILY FROM GOING THROUGH THIS, IT'S MORE THAN WORTH IT."

FOR MEDICAL EDGE, I'M VIVIEN WILLIAMS.

Anchor tag: You might wonder if newborn screening is at all dangerous for the baby. Dr. Rinaldo says the answer is no. For more information about newborn screening, visit our website at…

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