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Estelle and the world’s most expensive drug

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By Amelia Tarallo
Hometown Weekly Staff

Estelle Lemieux and her parents have lived in Walpole since moving from Florida two years ago. In the living room of their house are a couple of balloons from her second birthday, just a few days ago. Like many two-year-olds, Estelle loves Paw Patrol, her favorite characters being Everest and Sky. She has taken to the New England standard of “running on Dunkin’” and loves her morning egg wraps every day. She adores her grandparents and her Aunt Mimi. She’s wearing a leopard print shirt that matches her perfectly sassy personality. “She calls me Amy,” her mom says, shaking her head and smiling. At two, one of her favorite things to do is to get the mail. “Wheels, mommy, wheels,” she calls. Within seconds, her mom, Amy Lemieux, has set her daughter up with her wheelchair, and Estelle is off.

Estelle has spinal muscular atrophy (SMA). The disease is caused by a mutation in the SMN1 gene, which reduces the amount of SMN protein. This particular protein is necessary for the survival and functioning of motor neurons. Without them, children with SMA are expected to never walk and in some cases, lose function of other mobility. According to the Muscular Dystrophy Association, the earlier the onset of symptoms, “the greater the impact on motor function.” For years, it has been a waiting game for children with SMA and their parents as their children’s ability to move on their own lessens. But recent discoveries in medicine have possibly changed the game.

Estelle was born in Florida on October 19, 2017. When she was six months old, her mom started noticing that she was a bit behind when it came to movement milestones. She wasn't able to lift her head off the ground while she was in tummy position. Following their move to Massachusetts, Amy became concerned at her daughter's lack of development and brought it up to new doctors. They continued to assure her that everything was fine with their daughter. Determined to figure out a solution, Amy and her husband began taking Estelle to physical therapy. Over three months of hard work, Estelle made little improvement. Everything came back as normal after an MRI and blood work. Months went by, and Estelle's inability to lift her head off the ground was a mystery. After working with her, Estelle’s physical therapist pushed the Lemieuxs to get a second opinion.

At 15 months old, Estelle's parents visited a neurologist at Massachusetts General Hospital. Within minutes of their first meeting, this doctor suspected that Estelle had a form of SMA. Results from a blood test a week later confirmed it: Estelle had SMA type 2. She was diagnosed, ironically, on Rare Disease Day. With the shocking diagnosis came the next steps of getting treatments, prescribing the right drugs, and getting Estelle moving. The Lemieuxs started Estelle on Spinraza, the first drug approved for the treatment of SMA, with doctors giving her the four loading doses. Before she could receive any more, however, Zolgensma became an option.

Estelle cracks up her father and grandfather.

Estelle cracks up her father and grandfather.

In 2019, a possible solution for babies with SMA came with the approval of Zolgensma. The drug made national headlines not only for being the first gene-replacement therapy for SMA, but for being the most expensive drug in the world. The one-time dose of the drug costs about 2.125 million dollars per patient. Unlike Spinraza, which works to to slow, stop, or even potentially reverse the symptoms of SMA, Zolgensma works to replace what the receiver is missing. Zolgensma is given intravenously as a genetically modified version of a virus to deliver the missing gene. The hope with Zolgensma is that receivers will be able to walk someday, as well as maintain other motor functions. Though it is the more expensive drug relative to Spinraza, Zolgensma’s one-time dose makes it more cost-effective. In an article for STAT, Nathan Yates, who has SMA, notes that Spiranza’s four loading doses, along with additional yearly doses, makes the drug cost $750,000 during the first year of treatment alone. Over the course of their lifetime, children like Estelle will have saved millions in healthcare costs by opting for Zolgensma.

The Lemieuxs knew that Zolgensma was the best option for Estelle despite the large cost. They applied to have the drug covered, but their insurance rejected the claim. Days later, they reversed their decision and covered the entire 2.1 million.

On August 28, Estelle received Zolgensma. Since then, she has been doing physical therapy three times a week to get stronger. As of the end of December, Estelle is off steroids, making her almost completely done with post-treatment care. Since receiving the dose of Zolgensma, Estelle can now roll out of a sitting position and can do her own version of the army crawl. In June, the Lemieuxs will travel to Florida to attend their first SMA conference.

There’s no telling what Zolgensma will do and what new medical advancements will be developed during Estelle’s life, but one thing is certain: this girl is on the move and destined to do great things.

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