Advisory Committee Recommends SMA be Added to Newborn Screenings Panel

October 12, 2017 04:00 PM

With a treatment now available, the earlier the genetic disorder Spinal Muscular Atrophy is identified, the more likely a child with the disorder will live a full healthy life, according to three mothers.

"Madisyn started showing signs at 6 months old," said Jamie Mevissen, the proud mother of 9-year-old Madisyn.


"My son was diagnosed when he was 21 months old," said  Kara Forcier, the mother of 8-year-old Zachary.

Laura Czech said her son Andrew, now 2-years-old, was diagnosed at 10 months old

All three moms say would have given anything to have known their children would live with SMA as early as possible.

RELATED: FDA Announces Treatment for Often Fatal Spinal Muscular Atrophy

Spinal Muscular Atrophy is a genetic disorder that quickly strips those affected of their ability to walk, eat and breathe.

It's also the number one genetic cause of death in infants.

"(Zachary) uses a powerchair, he uses cough assist, he has a feeding tube," Forcier said.

The disorder affects just about everything but the mind.

"He's been asking me, 'Why me' since he was about three," she said.

After years of watching their children miss major milestones due to this disorder, on Tuesday, Minnesota reached a medical milestone of its own.

The Advisory Committee on Heritable and Congenital Disorders voted to recommend SMA be added to the panel of newborn screenings in Minnesota.

"It is a big deal. Especially for the patients and their parents," said Joanne Bartkus, director of the Minnesota Department of Health's Public Health Laboratory.

"If we get it on the panel, the kids that are newly diagnosed can start treatment right away and maybe have a different life than what my daughter has," Mevissen said.

Currently, Minnesota tests newborns for 60 disorders, but it doesn't test for genetic disorders where there is no treatment.

The FDA just fast-tracked a treatment for SMA last December. It's already changed the lives of 70 recipients families, including Focier and Mevissen.

"He's moving his legs," Forcier said.  "I have not seen him move his legs in three years."

Now the next step is getting the treatment before any symptoms start to show. These mothers believe the only way to do that is to test newborns for the genetic disorder.

"We don't know what to expect, but we're going along for the ride," said Forcier.

The final decision on screening newborns for SMA is now up to the Department of Health. If approved, experts estimate roughly 14 children a year will be diagnosed at birth, long before symptoms set in.



Katherine Johnson

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