Cure SMA: New treatment for genetic muscular disease in children gives hope to parents

Описание: CINCINNATI (WKRC) - One in 11,000 babies in the United States are born with SMA: spinal muscular atrophy. The genetic disease robs infants of their physical strength and many die before the age of 2.

Three-year-old Donovan Weisgarber has SMA.

"His life expectancy was less than one year," said Mattew Weisgarber, Donovan's father.

Ten-year-old Scarlett Landefeld also has SMA.

"I was told that she would not live to see her second birthday," said mother Annie Landefeld.

Both were only a few weeks old when they were diagnosed early with type 1 spinal muscular atrophy, the most severe form. The disease robs people of physical strength by affecting the motor nerve cells in the spinal cord.

Many parents like Annie and Matthew were told they only had a few weeks, maybe months, left with their babies when they were diagnosed with SMA. The differences between the two children are drastic. Scarlett can wiggle her ear and move part of her leg and a finger. Donovan is much younger, but he can move his arms and legs, speak and take a few steps. The reason Donovan has control over his body is a result of a new FDA-approved gene therapy called Zolgensma.

"To be in a place where we are making this disease really different -- it's an exciting time," said Mary Schroth.

Schroth is the chief medical officer at Cure SMA. She says the new gene therapy for patients is one of two in the world. It was approved by the FDA three weeks ago. She says these therapies provide a protein 1 in 11,000 babies are born without in the U.S.

"Survival motor neurons is what's deficient in people with SMA, and Zolgensma replaces that defective gene and that gene produces protein in the cells. That protein is necessary for the cells to function," said Schroth.

The gene therapy is administered once.

"Technically, it was anticlimactic. It was a syringe that was pushed for over an hour," said Matthew.

But the results over the last few years changed Donovan’s life.

"It was a slow progression, but ever since those three and four days, he slowly started to get better," said Matthew.

Matthew wants parents to know more about the new treatment. That way, they can seek help early. This new gene therapy is for children much younger than Scarlett.

"It's heartbreaking because Scarlett deserves a chance at life like everyone else," said Annie.

Annie says her daughter is like any other girl.

"Scarlett loves to dress up, loves to listen to music, very opinionated: her way or no way," said Annie.

Annie say's it's important to look for the signs of SMA in newborn babies, including muscle weakness and breathing problems. The sooner an infant is diagnosed, the better their outcome.