Shawn Stewart was diagnosed with spinal muscular atrophy when he was three.
"I was walking until the age of 13. I broke my leg at that age. After that, I was no longer able to walk."
He lost function in his arms, legs, and back. Just breathing became difficult.
For more than 45 years, doctors only treated his symptoms.
"I've had patients that had no arm function that can now move their arms," explained Dr. Michael Muhonen, the head of neurosurgery at Children's Hospital of Orange County.
"I've had patients that were ventilated, couldn't breathe on their own and they can now breathe."
SMA is a rare degenerative muscle disease. Patients are missing the nerve cells in the spine that tells muscles to move.
Until now, doctors could only treat symptoms.
The problem was that many SMA patients like Shawn have had spinal fusion.
Giving the drug through a spinal tap three times a year was painful and potentially dangerous.
"You hope that the drug circulates uphill and attacks these areas or latches onto these areas where it will be more effective," said Dr. Muhonen.
Now, he's come up with something different.
"This is a port that allows us to inject the spinraza through this tube, which has 20 holes in the tip of it. This tube goes into the spinal fluid."
"It makes the injections so easy," said Shawn. "It takes five to ten minutes to get the injection and I'm able to do that sitting up in my wheelchair."
Shawn says in a year and a half on spinraza, his breathing and speech have improved. And since Dr. Muhonen's port simplifies drug delivery, he has high hopes for the future.
A company in Boston is working on improvements to his port.
"The goal with this was to get something small like this and the tube is very small such that I could put that in the spinal column and there's 20 holes on the end of this and let the fluid drip out of this down the spinal cord," Dr. Muhonen said.
Dr. Muhonen believes delivering the drug in the upper body and having it drip down through the spine will prove to be more effective than having the drug move up from a lumbar puncture.
If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at email@example.com or Marjorie Bekaert Thomas at firstname.lastname@example.org.