Northern Scottsdale resident Samantha Lackey presses play on a video that she saved on her phone of her then 7-week-old daughter, Stella.
Baby Stella is moving her arms and legs; her chest rises up and down as she breathes.
It may look like nothing out of the ordinary for most, but for Lackey and her husband, Jeremy Lackey, this was a major milestone for Stella.
Stella was diagnosed one month after she was born with spinal muscular atrophy Type 1, a progressive genetic disorder that affects the nervous system and muscles.
The video was taken on July 6, just three days after she received Zolgensma, a gene replacement therapy drug approved by the FDA on May 24.
Zolgensma, a one-time treatment that delivers the missing SMN1 gene intravenously, was approved six days after Stella was born, making her the first patient in Arizona treated with the gene-based therapy.
“This new therapy has clearly demonstrated good efficacy with significant improvement in motor skills in a rapid fashion. This has paralleled the information from the clinical studies,” said Stella’s doctor, Barrow Neurological Institute at Phoenix Children’s Hospital Pediatric Neurologist Dr. Saunder M. Bernes.
“She’s incredible,” Samantha said of Stella today. “Our home has turned into a do-it-yourself physical therapy.”
Stella’s health may be improving, but Samantha and Jeremy are sharing their story this month — SMA Awareness Month — in hopes of educating future parents and stressing the importance of early testing.
SMA Type 1 is the most common — and extremely severe — form of the disease, accounting for an estimated 50 to 70 percent of all cases of childhood-onset SMA, according to the U.S. National Library of Medicine.
Bernes said eight to 10 children per year in Arizona are expected to be born with the disorder.
“SMA is a disease that robs people of strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat or breathe. It is the No. 1 genetic cause of death for infants,” said Kenneth Hobby, president of Cure SMA, an Illinois-based nonprofit dedicated to the treatment and cure of SMA.
Samantha swiped to another video of Stella recorded the day before her treatment.
“She doesn’t move,” Samantha said, pointing at her daughter’s chest. “You can see how labored her breathing is. She breathes with her belly.”
Zolgensma is the second drug approved by the FDA to treat SMA. Spinraza was approved just two years ago in December 2016.
“The ability now to treat this disorder with two drugs that now have been FDA-approved is the most profound change in treatment in childhood neuromuscular disease seen in my career,” Bernes said.
In addition to the two approved drugs, 21 other programs are in development, including six in clinical trials.
“While there’s great promise with these approvals, there’s also a pressing need for continued and growing investment,” Hobby said. “It will likely take a combination of therapies to achieve the greatest possible effect for people with all stages and types of SMA.”
Continuing to participate in the research of the disorder is Phoenix Children’s Hospital, which was recently designated a Cure SMA Treatment Site and Registry.
“We got lucky with the team of doctors we have,” Jeremy said. “We’re able to trust them.”
Samantha partially credits the genetic prenatal screening she took when she was 13 weeks pregnant for Stella’s early diagnosis.
“In this case, we were very lucky to know that yes, I was at least a carrier,” Samantha said. “If we hadn’t known, looking back on it, we could still at this point not have a diagnosis.”
Although Samantha’s insurance was billed $16,000 for the screening, she encourages moms-to-be to get screened.
“After the situation we’ve been through and what we’re going through now, I think being as prepared as possible for what could happen is important,” she said.
According to the U.S. National Library of Medicine, about 68 percent of children with SMA type 1 die before their second birthday and 82 percent die before their fourth.
Northern Scottsdale resident Brie Bartholomew’s daughter Quinn passed away in November 2017 when she was only 9 months old.
“She was born at 3:51 p.m. and also died at 3:51 p.m.,” Bartholomew said.
Quinn was diagnosed with SMA Type 1 during her four-month wellness check and began taking Spinraza at 5 months.
“We noticed improvements immediately following each dose; she seemed to have more energy, more life,” Bartholomew said. “Unfortunately, Spinraza does not rewind regression, (it) only prevents additional loss of motor neurons and the ‘disease’ had already progressed too far.”
Following Quinn’s passing, Bartholomew founded the nonprofit beCAUSE of Q in October 2018.
“I knew I needed to do everything in my power to ensure other parents did not have to endure losing a child to a genetic condition,” she said. “Awareness and advocacy has been our biggest contribution to date, but after our gala, we are launching the Genetic Funding Assistance Program.”
An estimated 150 guests attended this year’s gala Aug. 17 and 100 percent of proceeds went to the Genetic Funding Assistance Program, which provides financial assistance to those who are not able to afford — or whose insurance does not cover — genetic testing.
“We hope people realize the importance that genetic testing plays in early intervention, which could be the difference in life and death,” Bartholomew said.
Also a supporter of genetic testing, Samantha and Jeremy are advocating for SMA to be added to the newborn screening panel in Arizona.
Currently, Arizona screens for 31 core disorders, including hearing loss and critical congenital heart defects from the Recommended Uniform Screening Panel from the U.S. Department of Health and Human Services.
According to Hobby, in Arizona, any recommendation for a test to be added to the panel must be accompanied with a cost-benefit analysis.
In addition, all new conditions must first be recommended by the advisory committee to the Public Health Director.
“The advisory committee has voted to begin a study on SMA,” Hobby said. “Cure SMA continues to engage with state lawmakers and state public labs to encourage action and advocate for SMA to be included on the newborn screening panel in Arizona.”
Bernes added: “I would ask that all individuals contact their state representatives to urge them to include this addition to the newborn screen in the budget.”
During SMA Awareness Month, Hobby said the organization’s goal is to educate the general public about SMA and its community — the same community that has helped and supported Jeremy and Samantha throughout their journey with Stella.
“At diagnosis, we reached out to a ton of families that had or have a child with SMA,” Jeremy said. “We lean on them, and we hope that we’ll have future parents be able to lean on us in the same kind of way.”
Phoenix resident Ashley Pantier said connecting with moms also helped her tremendously when her son, Christopher, was diagnosed with SMA Type 2 on Jan. 2.
Christopher received his first dose of Spinraza the next month.
“It helps to have someone going through the same thing and who truly understands the disease as much as I do,” Pantier said.
Cure SMA is partnering with Chipotle on Aug. 24 for a Dine to Donate fundraiser, where guests can bring a flyer into Chipotle and Cure SMA will receive 33 percent of the revenue from that sale.
In addition, those interested in supporting Jeremy and Samantha can visit their GoFundMe, gofundme.com/stronglikestella, which has raised nearly $11,000 of its $50,000 goal.
Donations received will go toward Stella’s current and future medical expenses, as well as preparing for her life with SMA.
To follow Stella’s journey, visit @stronglikestella on Instagram.