Visits to Valley Children’s Hospital have become the norm for Jocelyn Thompson, Marcus Servantes and their young son.
“He had his 25th blood test,” Thompson explained. “He will be three months old this Saturday.”
Six days after Mateo was born, they discovered he had an inherited condition called spinal muscular atrophy, or SMA.
“It came back that Matteo was missing that particular gene strand, which meant he had SMA,” Thompson recalled.
The disease basically attacks Mateo’s nerves and muscles.
“These motor neurons are important. They communicate with the muscles to make them work properly,” said Dr. Raymund David, neuromuscular director at Valley Children’s. “So without these motor neurons, activities such as swallowing, breathing and movement are actually affected.”
Dr. David is Matteo’s specialist.
He said that because his SMA is not the most severe type, Matteo can receive a recently FDA-approved drug called Zolgensma. However, the road to getting the treatment is long.
“We had to do tests on his kidneys, heart and liver to make sure his little body could even handle this kind of intense treatment,” Thompson said. “Since then, we had to do tests on his antibodies.”
Although the last two and a half months have not been easy, the family and Dr. David are happy that Mateo’s SMA was detected early due to the mandatory newborn screenings, which began in 2020. They are also grateful that there are treatment options.
Prior to 2016, Dr. David said there was none for patients with SMA.
“As they age, they deteriorate, weaken and eventually die,” Dr. David said.
Jocelyn and Marcus said, for their baby boy, it’s like the stars have aligned.
“It gives us the absolute best chance for him to have a normal life and to have the best life possible,” she said.
A GoFundMe has been set up to help with Mateo’s treatment.
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