When Nicole and Derwin Almeida decided to have children, they realized they were facing a risk.
Genetic testing revealed a family member was a carrier for a genetic condition called spinal muscular atrophy or SMA.
By the time the couple got tested, Nicole was already pregnant.
“We’re both carriers, and that’s how our son has SMA,” Nicole said.
There are four different types of SMA.
Matteo was type one, the most severe.
“The motor cells that are coming from the spinal cord have a defect,” said Dr. Monica Payares Lizano, a pediatric orthopedic surgeon with Nicklaus Children’s Hospital.
Those cells develop a problem in the signal that controls muscle function, which causes every muscle in the body to degenerate, including the heart and lungs which can ultimately be fatal.
“These children, most of them, wouldn’t even make it to 2 years of age,” Payares Lizano said.
But in 2016, a groundbreaking injectable medication called Spinrazza changed the course of the disease.
“I remember getting the reports that the clinical studies had to be stopped because of the remarkable results,” Payares Lizano said.
That discovery led to an oral medication and then gene therapy, which Matteo got when it was undergoing clinical trials.
“It was literally a game changer to see all these new things and for the families, it’s really fantastic,” Payares Lizano said.
“It didn’t just save his life, it saved ours because we, I really don’t know where we would have been without this drug. It truly, truly changed like his complete outcome,” Nicole said.
Matteo is now 7 years old, going to school and thriving.
“We couldn’t have asked for a better kid. He’s amazing, he’s our everything, he’s our sun to our solar system,” said Derwin Almeida.
One in every 50 Americans is a genetic carrier for SMA.
The advanced treatments are not cures but they give children born with SMA the potential to live long and full lives.