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'Groundbreaking' treatment giving MD patients new strength

Ariyana Marcel rides an adaptive bike with her friends. (FOX 8 Photo) Ariyana Marcel rides an adaptive bike with her friends. (FOX 8 Photo)

At 3-years-old, Ariyana Marcel appeared vibrant, dancing like a ballerina on her toes. But becoming a ballerina would likely never be in the cards.

Her mother, Mary Lynne Marcel, knew her daughter was special, but she never imagined she’d be set on a path that would rob her of her strength.

"It took altogether about a year and a half from when I first suspected something to when she was diagnosed with SMA,” Marcel said.

Three little letters that would change her daughter’s life forever.

“It's very scary, especially when you start learning about this disease you've never heard about,” Marcel said.

“We met her when she was about three, she was walking, but she was having difficulty walking,” said Dr. Joaquin Wong, a staff physician and pediatric neurologist at Children’s Hospital.

Dr. Wong and his colleague, Dr. Ann Tilton, knew Ariyana had some promise. Diagnosed with spinal muscular atrophy Type 3, she was far from a death sentence, once all but certain for patients with Type 1 who would rarely survive past 2 years old, or Type 2 patients, who typically never walk. Ariyana still had mobility, and like most SMA patients, she had an active wit and uncanny charm.

“The great majority, mentally they're fine, so they're confined to a wheelchair but they can talk to you okay, they think okay like a normal person,” Dr. Wong said.

Mentally, Ariyana is sharp. She's now a freshman at Covington High School, where she has made several friends and easily gets around the school on her own. But the disease would strip her of the things she loved in her youth, like riding horses or just playing like a normal kid.

As her childhood slowly slipped away, so did her ability to walk, and life in a wheelchair became the only option.

"It happened so gradually I didn't notice, so it didn't really hurt me that much. But then I would see kids doing the things that I would use to do, and so that's when I'm like, 'Man I miss that.' But I don't really remember it very much anymore,” Ariyana said.

Marcel was determined to fix her daughter, but eventually she came to terms. There was very little she could do as doctors explained there was no real treatment available. Her daughter would gradually lose her ability to walk as the muscles around her spine began to grow weaker and eventually die.

"As a mom, you're supposed to be able to go the pharmacy and get medicine and go to the store and get soup. You're supposed to kiss things and make them better. It's kind of our superpower making our kids better, and I couldn't do that," Marcel said.

Through different therapies and attempts at treatment, Ariyana's diagnosis led her naturally to MDA, The Muscular Dystrophy Association. The group spends $75,000 a day on muscular dystrophy research and covers 43 different type of muscular diseases under its umbrella. It helped to fund $18 million in grants last year alone, and it's where Ariyana met Chase Miller, her mentor and a fellow MD patient who spearheads the local organization's fundraising efforts. It was through MDA that Ariyana learned about its annual camp that gave her an escape from the disease once a year.

“It's this one day out of the week where these kids can feel like a normal kid that doesn't have this disease. They see other kids in wheelchairs, they see other kids who are not in wheelchairs, but at the end of the day there's like this comradery because they know what it's like to have this,” Miller said.

“Everybody there, they're so funny, they don't treat you like you're anybody different. I love camp,” Ariyana said.

She loved camp so much she wanted to make a real difference for her MDA family and friends, so they made her wish come true, seating her right on the lap of Reggie Bush as part of a campaign to raise money for MDA.

“Once they saw her working with Reggie and how everything went, they asked her about being an ambassador and that was it,” Marcel said.

For the better part of the last decade, Ariyana has been a voice for patients like her, but it was last year when she first learned about what doctors are calling a new groundbreaking drug called Spinraza. Her life with SMA would take a drastic turn.

“At first I was just making sure that I didn’t set myself up for something that wasn't real, but now I'm ecstatic about it because I'm seeing improvement and now it is real, it is happening,” Ariyana said.

“They call it a game changer, you know like you see the Super Bowl or World Series, a game changer, and that's an appropriate term to use, it's giving these kids hope,” Dr. Wong said.

A breakthrough in the field unlike any before that could help change the way her body fueled her muscles.

A healthy person has two genes that make the proteins you need to fuel the motor neurons that make your muscles work, they’re called SMN-1 and SMN-2, which stand for survival of motor neuron. But in patients with SMA that first gene is damaged or not properly working so they have to rely on the second gene, SMN-2, which isn't as effective as that first gene and doesn't produce enough protein to keep the motor neurons alive. When those motor neurons die muscles atrophy or waste away.

That's what was happening to Ariyana until Spinraza came into play. The treatment administered through a spinal tap, tricks that second gene, SMN-2, into making more protein, which keeps the motor neurons alive and the muscles working, giving Ariyana more control of her body.

“You're going to put your daughter to bed and she moves a leg she hasn't moved on her own in five years, there are no words to describe what it's like except to say life with treatment for the first time ever we have hope," Marcel said.

“She used to tremor, she doesn't do that anymore, she can brush her own hair, she got this really cool adaptive bike,” Miller said.

Riding her bike with her brother and friends was something Ariyana could only dream about a few years ago, but now she’s doing it, thanks in part to the treatment, discovered due to research funded by MDA, who are seeing massive improvements in children with SMA across the board.

In fact, Dr. Wong said some children with Type-1, the nearly always fatal diagnosis, are able to tolerate breathing without a machine while on Spinraza.

“There are three different types of SMA one is Type-2 and you're not supposed to be able to walk, there's an 18-month old who is running around, and we never thought that would have been possible and this 18-month old is on Spinraza,” Miller said.

“I do it without even thinking about it now,” Ariyana said as she described simple tasks she’s now capable of completing.

Spinraza is planting the seeds of hope as Ariyana regains some of what she lost, she knows there's still a long journey, but a promising path nonetheless.

“Granted it's not a cure, but still it creates more excitement and enthusiasm, but the researchers are working hard on a cure and we may have a cure down the road,” Dr. Wong said.

For now, that road may have a few pit stops and those memories, locked away in the past, may one day be a little easier to remember.

“I just try to remember it, because in some ways I can't remember her walking or dancing anymore. You catch yourself not trying to get too excited because we don't know what she's gonna gain back or where this will be, but at the same time, you can't help but have faith that great things are coming,” Marcel said.

But when you see Ariyana Marcel now, you can tell those great things, they’re already here.

If you would like to help donate to find a cure visit MDA’s website here for more information. To follow Ariyana’s journey, you can find more information on her Facebook page.

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