Jenn McNary is a trusted voice in the rare disease community, as a mother, public speaker, and fierce advocate. Jenn has unique experience..
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Ask just about anyone across the globe what was the worst thing to happen to them in 2020 and they will concede it was Covid-19. Medable Patient Advisory Council member Khrystal Davis doesn’t see things the way most of us do. For her and her family, the Covid-forced quarantine means more time together with her husband and five children.
Khrystal learned, startlingly, the value of time with family in 2011 when her youngest baby was diagnosed with Type 1 spinal muscular atrophy (SMA), a genetic neuromuscular disease characterized by weakness of the skeletal and respiratory muscles. SMA is a rare disorder occurring approximately one in 11,000 births, and about eight million Americans are genetic carriers. It robs children of strength by affecting the motor nerve cells in the spinal cord, and impacting their ability to walk, eat, and breathe. SMA is the leading genetic cause of death for babies.
At the time, there were no approved treatments for SMA.
“We were shocked,” said Khrystal. “We went home with our eight-week-old son and cried all night. We let it all out, and grieved. But then we decided we were going to make the most of our time with Hunter so we took him to the zoo the very next day.”
The Davis’s did not fall apart (at least, not for long) and did not accept defeat. “The doctors told us that Hunter would lose his ability to move, swallow, and eventually, breathe. It was gut-wrenching but we decided to pack as much into his remaining time with us as we could,” added Khrystal.
Khrystal and her husband, Curtis, chose hope rather than despair and – incredibly – got to work.
“Curtis connected with an SMA researcher who had a compound that had gone through preclinical studies but it was shelved,” explained Khrystal. “We acquired the chemistry for that compound and hired a company to manufacture it. Next, we went to Mexico because Hunter didn’t have time for the regulatory rigor of the FDA. His disease was breaking down motor neurons every day.”
Eight weeks after Hunter’s diagnosis, he received his first treatment and became the first SMA patient in the world to ever be treated.
At the time, a similar treatment was in clinical trials in the U.S. but it was unavailable to Hunter. Thanks to the 21st Century Cures Act and the FDA’s increasing regulatory flexibility with n of 1 trials, it’s becoming increasingly easier to treat patients like Hunter fast. This wasn’t possible nine years ago.
The Davis’ flew from St. Louis to Mexico every six weeks for five years until Hunter crossed over onto an expanded access program (EAP) for a similar treatment in the U.S. shortly before its approval. Hunter responded extremely well to his treatments in Mexico and grew strong, crawling on his belly, sitting up unassisted, and was just about to start therapy for walking in a harness for the first time. Suddenly, Hunter came down with pneumonia and that would prove to be a lasting setback.
Hunter survived but the damage caused was too severe for his motor neurons to ever fully recover.
“He was two years old and we had such hope but we would never realize the same gains that we had from the treatment as we did those first 24 months,” Khrystal said. “This is why I am now such a passionate advocate of pre-symptomatic diagnosis and treatment. If not treated right away, patients are unable to rebuild the motor neurons as they age. Once they are gone, they are gone forever.”
Today, at the age of nine, Khrystal says that Hunter is the happiest of her five children. And, as promised when he was first diagnosed, the Davis’s have packed as much living as possible into Hunter’s life, taking him all over the world including China, London, Canada, Mexico, Spain, and Portugal. He still loves to see the animals at the zoo, and – of course – is a big fan of Disney.
Hunter is wheelchair-bound and cannot talk very easily but communicates using a device he controls by looking at a screen that ‘talks’ for him. “It was life-changing, though it has taken some time to learn how to use it,” smiled Khrystal. “Even so, he has outpaced his mother in mastering the device!”
Khrystal is now one of Texas’s leading advocates for SMA specifically and rare disease more generally. “What we learned from Hunter is that treatment approvals and research was not progressing fast enough so I reached out to a grassroots organization called Families for the Acceleration of SMA Treatments and we secured a landmark meeting with the FDA in Washington DC about the only SMA treatment in clinical trials in the U.S. called SPINRAZA. We had four requests.”
The FDA responded with overwhelming support and took fast, decisive action. By July 2016, the FDA announced that the current treatment met the primary endpoint so the placebo trial for Type 1 babies stopped and all babies crossed over on to the effective treatment. In August, the FDA and Biogen worked to launch an EAP for the treatment for Type 1 SMA patients – consisting of more than 65% of all SMA patients – under age 18 across all 12 trial sites.
On December 23, 2016, Khrystal and all SMA patients received the greatest Christmas gift: FDA approval of SPINRAZA. It was the fastest drug approval in the history of the FDA.
“Patients and their caregivers finally had new hope, so we wanted to get the information out quickly,” said Khrystal. “Various organizations worked together to educate top neurologists and spread the word through educational campaigns, social media, and various patient groups and communities.”
They thought their work was done when the FDA approved SPINRAZA but that was not the case. “We quickly learned that FDA approval doesn’t guarantee access.” FDA approval means that patients can take an approved treatment, but it doesn’t mean payers will cover it.
Khrystal and the rest of the group have also challenged payers’ to cover SPINRAZA for SMA patients pursuant to the broad FDA label. Collaboration with regulators, researchers, doctors, biotech, and advocacy groups, she said, is crucial. “We have witnessed the research industry and FDA come together, and the overwhelming collaborative effort that it takes to get a treatment to patients. It’s the only way we will move forward on any of our goals,” Khrystal explained.
Newborn Screening Crucial for Rare Pediatric Disease Treatment
August was SMA awareness month, and September is newborn screening awareness month. “It’s perfect that newborn screening month follows SMA awareness month. SMA is the leading genetic cause of infant mortality when left untreated. It’s a great example for the need of newborn screening.”
Khrystal, founder and president of the Texas Rare Alliance, now works tirelessly to advocate for newborn screenings for rare diseases. “We’re revamping Texas’s newborn screen program, not just for SMA but for all rare conditions as they are included on the Recommended Uniform Screening Panel (RUSP). This is crucial to affording access to pre-symptomatic treatment and to ensure the least permanent damage is done by any of these diseases,” she added.
Through her tenacity and endless persistence, Khrystal and the Texas Rare Alliance helped secure legislation that now provides the necessary funding for newborn screening of all new conditions in Texas so doctors can automatically include a condition that raises the cost of the newborn screening and still test for it.
“Texas is nearly RUSP-compliant, which is so vital to helping prevent the onslaught of symptoms for rare diseases on babies. It needs to be done nationwide. The rare disease community needs to come together and make all states recognize how this small step can mean all the difference,” Khrystal said. “We’re not done yet. We want to make sure Texas is RUSP-compliant, and educate our Senators, Representatives, and their health policy staff on the need for an implementation requirement. Max Bronstein helped secure an implementation requirement in California in 2016, making it the first RUSP-compliant state.”
Khrystal now serves on the Texas Newborn Screening Advisory Committee. She also regularly speaks and advocates on the importance of strengthening newborn screening programs. Her ultimate goal is to work toward securing newborn whole genome sequencing which she believes affords an opportunity to democratize the diagnosis and eliminate the diagnostic odyssey for most rare diseases. “An important step is to provide whole genome sequencing to critically-ill NICU and PICU patients with unknown etiologies.”
Today, thanks to the relentless work and courage of so many SMA patients, advocates, doctors, and researchers, we have three FDA-approved treatments for SMA. “We had nothing less than a decade ago,” said Khrystal, “now there are three options. That’s what I want for the entire rare disease community where only 5% has even a single approved treatment.”
Khrystal is focusing her advocacy on newborn screening and the pursuit for newborn whole genome sequencing. “I believe newborn screening is crucial to treating rare pediatric conditions. Babies can be tested shortly after birth and is the key for many early-onset conditions.”
As the Davis family learned from this gut-wrenching journey, nothing good comes from anger. They continue to struggle with physical, mental, and spiritual challenges that most cannot imagine but they haven’t stopped living as full of a life with Hunter as possible. They push forward. They choose hope. It’s not surprising, then, that as the rest of the world bemoans the temporary inconveniences thrust upon us by the pandemic, the Davis’ see good.
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Hunter Davis is one of many patients living with rare diseases, many of which have no known cure or treatments. Medable will continue to highlight stories of patients and caregivers like the Davis family, as we encourage the industry to invest resources into rare disease research. Please follow our Patient Advisory Council via blog and LinkedIn for regular updates.