NORTH PLATTE When Levi Thoene was just past six months old, his parents were told he had a rare genetic condition that meant he probably wouldnt reach his second birthday.

Called spinal muscular atrophy, it meant his body couldnt produce enough of a protein that certain nerve cells in his spinal cord need to survive. The condition leads to weakened muscles, including those needed for vital functions like breathing and swallowing.

On Tuesday, Levi turned 2. And in defiance of his earlier prognosis, his parents are seeing signs that hes making gains.

He can now sit up for 15 minutes or more, said mom Morgan Thoene (pronounced Tay-nee) of Ralston. Hes moving his arms and hands more, and he can do more to signal his wants and needs. His cough is stronger, and hes starting to say words, including no, the staple of toddler vocabulary.

Brandon Thoene, left, and Morgan, right, sit with their son Levi sit up during a visit to his doctor at Children's Hospital on Friday, October 18, 2019. Levi, who has spinal muscular atrophy, a month ago received a new gene therapy called Zolgensma and has been recently able to sit up on his own for the first time.

Anything he does is a surprise, and a blessing, that hes doing it as well as he is, said Brandon Thoene, his dad.

A month ago, Levi became the first child in Nebraska to receive a new gene therapy for spinal muscular atrophy called Zolgensma.

Approved by the Food and Drug Administration in May, it made headlines as one of the first gene therapies with the potential to stop the progression of possibly cure a genetic condition.The one-time treatment also comes with a price tag of $2.1 million.

About 1 in 11,000 babies are born with SMA, according to Cure SMA, an advocacy group. There are four main types, with Type 1, the version Levi has, being the most serious of those and the most common.

Before starting the new treatment, Levi had been getting a different therapy called Spinraza, the first drug available to treat the condition.

While Spinraza gives a defective gene in SMA patients an assist, Zolgensma replaces it, said Dr. Geetanjali Rathore, neurology division chief and director of the neuromuscular clinic at Childrens Hospital & Medical Center in Omaha.

No studies have yet been done to compare the two drugs. While plenty of questions remain unanswered, including about the therapies' long-term performance, both are preventing progression of the disease and resulting in improvements, Rathore said.

Dr. Geetanjali Rathore examines Levi Thoene just before his second birthday at Children's Hospital on Friday, October 18, 2019. Thoene has spinal muscular atrophy and recently received a new gene therapy called Zolgensma.

As a result, doctors for the first time have treatments to offer patients and their families, beyond feeding tubes, ventilators and other supportive care.

I think thats huge, thats huge for us and the SMA population, said Rathore, who well remembers her first SMA patient. A beautiful, 6-month-old girl and her parents first child, she was too old for the early Spinraza trials available at the time. She didnt survive her first year.

Last week, Rathore saw Levi for his one-month follow-up since starting the gene therapy. Hes also getting weekly lab tests to check for any side effects and make sure the treatment isnt affecting his liver or heart.

While its still early days, Rathore said shes very pleased with the progress Levi is making. Hes had no side effects and his lab tests are stable.

I am hoping to continue to see much more improvement, she said. Doctors typically see more measurable motor milestones starting at three months after treatment. At six months, they'll do a formal assessment of motor function.

Brandon Thoene, left, fist-bumps his son Levi during a visit to his doctor at Children's Hospital on Friday, October 18, 2019. Levi, who has spinal muscular atrophy, a month ago received a new gene therapy called Zolgensma and has been recently able to sit up on his own for the first time.

Meantime, the availability of treatments is creating new urgency to begin treatment for SMA as soon as possible, before the lack of the needed protein leads to permanent loss of neurons and function.

Unpublished data presented at medical conferences indicates that very young children treated before they develop symptoms all are doing extremely well, developing almost normally, Rathore said.

That calls for earlier diagnosis. Federal health officials added SMA to their list of recommended screenings for newborns in 2018.

The Nebraska Newborn Screening Advisory Committee voted in March to recommend adding SMA to the states newborn screening panel, the tests all babies are given at birth. State health officials anticipate that legislation to require the screening will be introduced in January.Ten states, including Missouri and Minnesota, already have implemented the testing,according to Cure SMA. Iowawilldecide whether to add it in 2021, pending successful completion of a pilot project expected to start next summer.

Rathore, who spoke in favor of adding the test, said the SMA screening can be performed using the same heel-prick blood sample now collected from newborns before they leave the hospital.

The tests, which now check for more than 30 conditions, look for conditions that would not be apparent just by looking at a baby and that can be treated effectively if identified early. Theyre credited with saving babies lives each year and preventing neurological and other developmental delays.

Morgan Thoene said the family plans to push the Nebraska Legislature to add SMA to the panel. She writes about Levis journey on the Facebook group, Life of Levi.

Morgan Thoene, left, comforts her son Levi during a visit to his doctor at Children's Hospital on Friday, October 18, 2019. Levi, who has spinal muscular atrophy, a month ago received a new gene therapy called Zolgensma and has been recently able to sit up on his own for the first time.

Starting therapy before symptoms develop, she said, could head them off. When Levi was diagnosed in April 2018, the Thoenes, both teachers at area schools, knew nothing about the condition. Levi had been hospitalized beginning in March for failure to thrive. He wasnt gaining weight, he didnt cry very loud and his cough was weak. He certainly wasnt as active as his older brother, Elliot, now 5.

Levi began receiving Spinraza, which the FDA approved in 2016, shortly after he was diagnosed. The drug must be injected into the fluid surrounding the spine every four months indefinitely. The cost is estimated at $750,000 for the first year and at $375,000 a year thereafter. Children's so far has treated 18 patients with that drug.

After Zolgensma was approved by the FDA, staff at Children's staff worked hard to get it OK'd internally for use at the hospital, Rathore said. It's federally approved for children under age 2. Levi, who started it Sept. 20, made it just under the wire.

"Spinraza was great because it allowed him to get a lot of gains," Morgan Thoene said. "But this has produced even more."

The gene therapy, given intravenously, is delivered by a virus that has had its genetic material removed. It's replaced with the gene that codes for the lacking protein. But rather than integrating with the patient's DNA, it sits on the side and goes to work to increase production of the protein.

In Levi's case, the costs were shared by Blue Cross Blue Shield of Nebraska and Medicaid.

Multiple studies, she said, found that the cost of caring for patients with SMA Type 1 think ventilators, wheelchairs, hospitalizations significantly outpaced the annual cost of Spinraza. Those studies haven't yet been done yet for Zolgensma, but the therapy is expected to be cost effective in the long term, particularly if it proves to be a one-time therapy.

Efforts are under way to expandboth treatments to more kids. Children's is on the list to become a center for trials of Zolgensma in children older than 2 who have less severe forms of the disease.

The hospital also has begun a study to gauge improvements in quality of life in such patients. That will focus on more subtle but still important changes such as whether patients can eat by themselves and how much help they need to move. It's new territory, Rathore said, because the focus with SMA patientshas for so long been on survival.

The Thoenes celebrated Levi's big milestone at home, just the four of them. They planned tomark the occasion with extended family and friends Sunday with a gathering at an area pizzeria.

For now, they're celebrating the progress he's made.Said Morgan Thoene, "He's doing fantastic."

Continue reading here:
Boy, 2, first in Nebraska to receive $2.1 million therapy for rare disorder. 'He's doing fantastic' - Kearney Hub

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