Gene therapy serves as game-changer for SMA-stricken Mikaela
Two years ago, Thanksgiving for Dan and Rebecca Szajna of Champaign was non-existent. They were trying to comprehend their infant daughter’s Spinal Muscular Atrophy (SMA) diagnosis, which included a life expectancy of six months to a year.
“We went from having two healthy little girls to being suddenly knee deep in this,” Dan said.
Shortly after Mikaela’s well-baby visit at 2 months, a cold that wouldn’t go away and muscle tone they still describe as “floppy” led to seeing a pediatric neurologist at Carle. The physician suspected SMA and sent the family to Lurie Children’s Hospital of Chicago.
That could be the beginning of a story about health insurance hang-ups as worried-beyond-belief parents seek the care their baby needs. It’s not.
“Health Alliance has been a partner in helping Mikaela overcome so many hurdles. They’ve made new and innovative treatments available and continue the day-to-day authorizations for Mikaela's endless medical visits, supplies and therapies,” Rebecca said.
The family left Lurie’s that November with a lot of information about the condition they’d never heard of. They’d barely begun to process the situation when Mikaela’s cold became dangerous.
With SMA, the body doesn’t produce the proteins necessary for communicating with its muscles and nerves. Mikaela’s brain told her to cough; her lungs never got the message.
“She wasn’t able to clear her lungs. Without early treatment, children with SMA get to point where their bodies can’t do the functions they need to live,” Rebecca said. “Mikaela’s lung collapsed. We spent four and a half months in the Pediatric Intensive Care Unit (PICU) at Lurie’s.”
Carle will open its PICU in early 2020, keeping more families with ill children closer to home.
“At that time, we needed Mikaela to be able to eat and breathe. That’s why we pushed on. That’s what kept us moving forward,” Dan said.
And they needed SMA treatment as quickly as possible to prevent irreversible consequences.
As if the fight for her life wasn’t enough, Mikaela had two slim options for potentially lifesaving care: drug therapy and gene therapy.
But she needed genetic testing first.
“Getting genetic testing would be costly, but it would allow us to fight this,” Dan said. “We might not be able to get Mikaela back to 100 percent, but maybe she’d be well enough to reach key milestones. We knew some kids dosed early are able to walk.”
The Szajnas decided if Health Alliance didn’t approve coverage for the testing, they’d find a way to pay for it themselves. They didn’t need to.
This story’s drama doesn’t end there.
“The drug therapy was $125,000 per dose, and Mikaela would need three ‘loading’ doses within the first two months and then a dose – which is administered through a lumbar puncture – every four months for the rest of her life,” Dan said. “We thought, ‘If insurance doesn’t cover this, Mikaela doesn’t have a chance. Period.’”
The drug manufacturer paid for the first dose as part of its patient-advocacy program. Health Alliance – with support from its Pharmacy Department and Director Brian Smolich – came through for the rest.
Health Alliance Chief Medical Officer Robert Good, DO, MACOI, is part of the team responsible for making sure the local health plan covers high-value, high-cost care to serve members. Two essentials help make that happen:
- Following best practices with both emerging and established treatments.
- Minimizing low-value care – like vitamin D screenings – that eats up healthcare resources without helping the patient.
“My marching orders are to provide best-practice care to do what’s best for the patient,” Dr. Good said. “In Mikaela’s case that meant getting in touch with experts from all over the world who could educate us about what she needed.”
After Mikaela’s lung collapsed and all that time in the PICU trying to get her to breathe on her own, the Szajnas faced the difficult decision of whether to have Mikaela undergo a tracheostomy and live on a ventilator. Because Mikaela had responded well to drug therapy, the Szajnas had faith one day she would eat, breathe, walk and talk.
After Mikaela had been home for just over a year with her essential breathing apparatus and more, the FDA approved gene therapy for treating SMA children younger than 2.
Time was not on Mikaela’s side. She was just shy of turning 2. Plus, the price tag: an unfathomable $2.1 million for the single dose Mikaela needed.
Everyone on the sick little girl’s team fast-tracked their work, including Health Alliance.
“We know how fortunate we are. Health Alliance could have said the cost was ridiculous, but they understood what not getting gene therapy could mean,” Dan said.
Rebecca added, “In the grand scheme of all the fighting for Mikaela’s life and quality of life, we didn’t have to fight for our insurance company to cover gene therapy. That was huge.”
Moment of truth
Mikaela’s older sister, Carrie, who turns 5 next month, helped prove gene therapy is working.
“We were watching Mickey Mouse Clubhouse. Mikaela hadn’t been able to move her arms and hands. I heard Carrie say, ‘Mom, she’s touching me,’” Rebecca said. “Mikaela reaching out to touch her sister gave us a weird sense of normalcy we thought we might never feel.”
Dan added, “I thought, ‘Yes, fight like sisters. Please.’”
Today, Mikaela does physical, occupational, speech and developmental therapy multiple times a week. She also scoots around the Szajna home on her little bike and is constantly moving – and moving forward.
“We have a lot of people working to help make her better,” added Dan, who draws attention to Mikaela’s intellect. “She figures out how to compensate. Even when she was intubated and could hardly move, we could tell volumes from the look in her eyes. She has the deepest and darkest brown eyes. You could see how her feelings of calm and concern varied minute by minute.
“Through all that time in the hospital, we watched Mikaela size up each new doctor, each nurse. We could tell how very deeply she thought because SMA affected her body but not her brain.”
Thanksgiving this year is different. Very different.
“Two years ago, Mikaela was not supposed to make it,” said Dan, director of System Purchasing at the University of Illinois. “But look what we’ve been able to achieve.”
Rebecca admits so much of what they’ve been through “totally sucks,” including becoming experts in the medical care, equipment, supplies and therapies Mikaela may always need.
“Our Health Alliance care coordinators – from our first diagnosis through our inpatient stay and since we've been home – have been amazing. I’ve relied on their guidance, knowledge and cheerleading and would be lost without their support,” she said, singling out Diann Crossman’s essential role through all this.
Still, the laughs come quickly as they tell their story.
“I became a lawyer because I didn’t want to be a doctor,” said Rebecca, now a U of I law professor. “I feel like I know enough now to have a degree in nursing.”
And gratitude abounds.
“We appreciate the support of our family, friends, colleagues and the university through all this,” Rebecca said. “It all ties together. One great thing adds up to another to another. Our jobs, our insurance, our doctors. All of it.”
Dr. Good applauds the innovative thinking behind gene therapy that led researchers to package the protein SMA patients need inside a virus. The virus dissolves, releasing the gene on the other side of the challenging blood-brain barrier.
He also applauds Rebecca and Dan.
“Mikaela has an exceptional family. They delved in to do what they needed to do,” Dr. Good said, adding a few more months will show just how well the gene therapy worked. “Two years ago, there was no hope and no cure for SMA. This changes the game.
“I hope her care team can get Mikaela off the ventilator, take out her tracheotomy. She’s a bright little child. She can have a great life.”