FRISCO — Picking up 14-month-old Harper Singh is a bit like lifting a rag doll. She has virtually no head, neck, or body control.
Harper wasn’t always this way.
"She was hitting her milestones, rolling over and picking her head up,” said her mother, Holly Singh. “And then — at 6 months old — all of that stopped and she started regressing."
Harper was diagnosed with spinal muscular atrophy, or SMA, a genetic muscle-wasting disease that affects about one in 6,000.
There is prenatal genetic testing for SMA, though it is not routinely offered. Both parents are carriers of the gene, though neither Holly nor her husband Tanner knew it.
There are several variations of SMA affecting people at different ages. Harper’s symptoms showed up before she was six months of age. Her case is considered rare... and severe.
In a few months, Harper lost control of everything except her arms. She needs constant help clearing secretions that could choke her to death or cause a dangerous fluid build-up in her lungs.
“Whether it's less movement, trouble swallowing, respiratory problems from breathing... life expectancy is two years of age. Sometimes shorter than that," Tanner Singh said.
There is one treatment for SMA. It’s not a cure, but it could save Harper’s life by returning some function to the muscles that now fail her. It’s an experimental drug called ISIS SMN-rx.
Harper can't get that treatment because she's too young to be eligible for the clinical trial. SMN-rx is not being used on children between seven months and two years old.
By e-mail, the drug's manufacturer — ISIS Pharmaceuticals, Inc. — has told the Singhs there is no “access to the drug outside of the trial,” and granting one in this case could "potentially delay its regulatory approval and widespread availability” for other children.
The Singhs understand the company’s stance, but also don’t understand how a child’s only hope can be withheld.
"It's our only option,” Holly Singh said. “So we want to fight for our only option that's there."
The Singhs have started an online petition begging for compassionate use of the medication. So far, more than 2,000 people have signed. They pray the company hears the outcry, what they call Harper's Roar.
“It's not fair to have her wait,” Holly said. “It's not fair for any child to have to wait for something that could potentially help her now, when we don't have time. Time is not on our side.”
Without quick intervention, the Singhs fear their daughter will continue to regress, and that this might be her last summer.
"We live each day, one day at a time,” Holly Singh said through tears, “We don't have any other choice, so we fight each day.”