Healthbeat: Raising awareness for newborn health screenings for a fatal genetic disorder

Healthbeat

WILKES-BARRE, LUZERNE COUNTY (WBRE/WYOU) — The goal of keeping children healthy is easily derailed by serious illness. Sometimes it’s the result of something in a child’s genetic makeup.

Some genetic disorders can compromise more than just a child’s quality of life. It can also impact their longevity as is the case with a genetic disorder often referred to by just three letters: MLD.

“She was born perfectly healthy. Was stuffing her face with meatballs, running after her brother,” said Maria Kefalas who is a Patient Advocate in Bala Cynwyd, PA.

But something dramatically changed when Maria Kefalas’ daughter, Cal, was 2-years-old and having difficulty speaking and standing.

“When she started falling and doctors later would say you know when a kid starts losing milestones that’s really like a red flashing light,” said Kefalas.

Kefalas took her daughter to Children’s Hospital of Philadelphia to find out what was wrong. There she was diagnosed with Metachromatic Leukodystrophy or MLD.

“An MRI revealed catastrophic damage to the brain and central nervous system,” explained Kefalas.

“And so our goal today is to talk to people about MLD so they’re aware it exists and they’re also aware it should be added to the newborn screening,” said Laura Adang MD, Ph.D. who is a Pediatric Neurologist at Children’s Hospital of Philadelphia.

Screening could help find the gene mutation responsible for MLD. The disorder causes accumulated fats called sulfatides in the brain and other areas of the body and results in this rapidly progressing neurodegenerative disease. Screening could also lead to early intervention and help prevent what otherwise would be inevitable.

“When a baby already has signs of difficulty from the MLD, those issues are largely, unfortunately, irreversible and treatment isn’t an option when kids have damage already,” said Dr. Adang.

“We couldn’t save Cal but we’re working, Dr. Laura and I, we’re really working to raise awareness of this disease so that other children don’t have to go through what my Cal has gone through,” said Kefalas.

No one with MLD has lived beyond 13. Maria Kefalas’ daughter is 12. Breakthrough treatments are being developed to head off MLD.

For more information on MLD visit Chop.edu.

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