New Duchenne Muscular Dystrophy treatment helps boy, 4, battle rare disorder
By Jessica Brown
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BOSTON (WCVB) — A breakthrough treatment is helping young kids living with a rare genetic disorder. One local family is calling it their “miracle.”
Four-year-old Lucas loves a good play date at the park, but his favorite? Playing superheroes. From Superman, to Spiderman, to even a fireman, Lucas is a big fan of how they face trouble with their superhero strength.
His parents, Manuela Villa and Luis Toro, say he’s always been this way. But even at a young age, it wasn’t long before Lucas had to face his own real-life battle.
“We had some concerns with his gross motor development very early on. It took him a while to be able to sit up. It took him longer to be able to start eating. He would cough when swallowing, thin liquids, and I think the most remarkable thing was he never crawled,” says Manuela Villa.
Lucas’ teacher also noticed his developmental delays, so his parents got him tested. Lucas was diagnosed with Duchenne Muscular Dystrophy, a rare genetic disease that starts as muscle weakness in the legs and then could progress to affect the heart and lungs, and that can be deadly.
“Just like thinking this, this, this can’t be happening, ” says Luis Toro.
“The first thing that I felt like really stuck for me was its terminal. This is going to affect how long he’s going to be with us. It took a long time. It feels for us to be able to even see the diagnosis or talk about the fact he had this without feeling that grief and that sadness and that loss,” says Villa.
Duchenne Muscular Dystrophy is mostly found in boys. Lucas’ physician, Dr. Partha Ghosh with Boston Children’s Hospital, says with early intervention and medication people are living longer.
“These patients are now typically surviving in their third decade even going up to their fourth decades in life, but they are significantly functionally compromised, meaning they are in a wheelchair,” said Ghosh.
Just last summer, the FDA approved a new gene therapy for boys ages 4 and 5 that has the potential to slow down or even stop the progression of the disease over time.
Lucas was a candidate and the first patient in Massachusetts to get the treatment.
“It was all like all the pieces just sort of fell in,” says Villa.
Just weeks later, Manuela says something big happened:
“We started seeing these things that we had never seen him do before. He would get into the car on his, you know, on his own, riding a scooter he didn’t use to do that. Now he can actually jump. He can jump from a few stairs and land on his feet without falling, and well the biggest thing, he would fall every five, six, maybe ten steps. He would fall just walking, and that stopped happening,” says Villa.
For Lucas and his family, this meant hope. However Ghosh says it’s still too early to truly tell the impact of the new therapy.
“There’s no way of knowing other than watching him grow, watching him develop. So, there’s no blood test. There’s, you know, nothing that can give us that reassurance. But I feel like just having the opportunity to receive the treatment has given us a lot of hope,” says Villa.
“That was a miracle for us,” says Toro.
Lucas’s parents say they know only time will tell, but, in the meantime, they’re soaking in the present capturing new milestones of Lucas’ own super strength.
It could be years before we find out the true impact of the new gene therapy.
Ghosh says he’s hopeful the FDA will expand the age range for patients to have access to this therapy and hopes that could come as soon as this spring or summer.
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