Although she has heard a new drug to treat spinal muscular atrophy type 1 has helped children walk again, Dublin resident Annette Reed just hopes the drug will maintain the limited mobility her daughter, Madison, already has.
Madison was diagnosed between 7 and 9 months old with type 1 SMA, a genetic disease that affects the portion of the nervous system controlling voluntary muscle movement.
Now 20, Madison is unable to walk and uses a wheelchair. She maintains a social life via Facebook, Twitter and online games, Reed said.
Because Madison maintained movement of her thumbs, she can use a computer with a special mouse and an onscreen keyboard with word prediction software.
Madison began taking Spinraza on March 21. It is the first drug the Federal Drug Administration approved for SMA. The drug, which has a biologic name of nusinersen, is administered into the spine.
Reed said whereas many people wouldn't notice any change in her daughter, she has.
"It's definitely an improvement," she said.
Madison's movements and strength have not regressed, and her breathing also has improved, Reed said.
As an infant, Madison was never able to stand up, walk, sit up or roll over, Reed said.
She began talking however, before she was a year old, although now she is unable to annunciate certain sounds.
Madison also requires breathing treatments to help her cough, because she is unable to do so on her own.
Reed said she hopes the new drug will help her daughter maintain what leg strength she has and maintain the mobility in her right arm to allow her to continue using the computer.
Dr. John Kissel, director of the spinal muscular atrophy department at Nationwide Children's Hospital, has worked with Madison for about 15 years.
He said he has found Madison and her family's ability to deal with the disabling and challenging disease "unbelievable."
"They've dealt with something that few people have to deal with, and they've done it with grace and dignity," Kissel said.
Spinraza was approved by the FDA in December 2016 and represents a significant step forward for those diagnosed with SMA, Kissel said.
One of the big hopes for the drug is that it will prevent the worsening of the conditions of patients like Madison and those who have lived with SMA for a long time. Still, it is too early to tell how effective the drug is, because improvements would need to occur over a long period of time, he said.
Spinraza also could have a role in how SMA is diagnosed, Kissel said.
Patients with type 1 SMA typically show symptoms within the first six months of life, he said, but diagnoses often take another three to six months because the patients are initially thought to have milder cases of SMA, he said.
Biopsies and electrodiagnostic studies are used to diagnose patients, but some within the medical community have pushed to do neonatal screenings as well, Kissel said.
Because Spinraza is now an FDA approved medication for type 1 SMA, Kissel said he believes that will help neonatal screening become a reality.
For Reed, what could be seen as small physical abilities to some are major victories for her daughter.
Since beginning the drug regimen, Madison hasn't tired as easily, Reed said.
She can breathe without the help of her bilevel positive airway pressure machine, which delivers pressurized air through a mask, for longer periods. She can sing bits of songs and maintain enough facial control to smile.
Madison's aunt, Michelle Worrellia, said her niece waited 20 years to see a drug come along that could treat her disease.
"She is all-girl to the max, and I would never trade her for any other kid," Worrellia said. "She made her own self through this journey in life."
Madison Reed is all smiles April 18 after her third injection of Spinraza, the first FDA-approved drug to treat type 1 spinal muscular atrophy.
COURTESY OF ANNETTE REED