HARLINGEN — When her son was diagnosed, all Kristen Resendez could think about was what would happen if he had an itch.
How would he scratch it?
Jack didn’t exhibit any symptoms at birth, but at three weeks he stopped moving. At seven weeks, he was diagnosed with Type 1 Spinal Muscular Atrophy.
He didn’t move, he blinked.
Resendez wants to change the way people in Texas are diagnosed with SMA.
Tomorrow, Resendez will travel to Austin to speak with the Texas Newborn Screening Advisory Committee and ask them to add SMA to the list of over 50 conditions they test for including Sickle Cell Anemia and Cystic Fibrosis.
According to Resendez, parents in the past have tried to get SMA added to the Newborn Screening list, but without a treatment, the advisory board did not see a reason.
Spinraza might change that.
Jack will turn two later in August and has been a part of the clinical trial called Spinraza for most of his life.
Approved in December of 2016, Spinraza is the first and only FDA-approved treatment for SMA.
“What this disease is today is not what it is going to be tomorrow,” Resendez said.
The demanding and expensive treatment that involves lumbar puncture is helping Jack make small advances in muscle growth.
On his back, watching a movie, Jack can grab everything within his reach. He can move his arms and kick his legs.
To Resendez, it’s been a journey to get to this point.
When Jack was an infant, Resendez took him to a local doctor who gave her very little hope for his future.
After contacting friends in Dallas, she was able to secure an appointment with a doctor who helped her understand the disease and all the care that goes into treating it.
It was during this time that Resendez was lucky enough to enroll Jack in the clinical trial before it closed.
“It’s not the cure, but it’s going to make that child’s life have so much more quality than it would have otherwise,” Resendez said.
Because of this treatment, Cure SMA is looking to make advances in helping people diagnose infants before they begin showing symptoms by adding it to the Newborn Screening.
“Doing this isn’t going to save Jack,” Resendez said. “Doing this is going to save maybe even a future child I might have. It’s not going to make a difference in my son’s life. It’s going to make a difference in my friend’s life.”
Jack’s last dose was in April and he has still been exhibiting improvements.
The ability to pull on something and hold his head provide small victories.
