BATON ROUGE, La. (WAFB) - When medical staff injected a $2 million drug into her small veins, baby Lexa James cried out and her life changed forever.
”She’s my child, what can you say? You always have the highest hopes for any anyone that’s yours,” said Andrea James, Lexa’s mom. “I hope she can speak; I hope she can keep her swallow. I hope she can continue to breathe on her own, and I hope she can walk one day.”
Lexa was born with Spinal Muscular Atrophy, SMA. It’s a genetic condition that involves a missing gene which prevents the body from producing a motor neuron protein that is critical for nerve cell function. Without it, nerve cells can’t properly function and eventually die leading to devastating neurological issues. Some compare the disease to ALS, and it can be fatal for children.
According to the advocacy group Cure SMA, 1 in every 50 Americans is a carrier for the disease and it affects 1 in 11,000 births. Most parents won’t know they are a carrier, until their child is diagnosed.
“Usually the baby is born and can look normal, which is one reason why the diagnosis is so difficult, and then we’ll usually start to develop symptoms at a few weeks to a few months of age,” explained neonatologist Dr. Kimberly Stewart. “Usually by six months, 90 percent of the protein or the cells that make the protein the baby needs to be able to function normally have already been affected. So that’s why it’s very important for the babies to be diagnosed as soon as possible.”
Lexa is the second child in her family to have the diagnosis. Her older brother Axel was diagnosed at 4-weeks-old. Now 2-years-old, he’s undergone several treatments and experienced some setbacks. He has a trach, uses a ventilator at night, and needs a wheelchair to get around.
In 2019 the FDA approved something revolutionary to treat SMA patients under 2. It’s a gene replacement drug therapy delivered through an intravenous infusion called Zolgensma. It works by replacing the function of the missing gene. By attaching to the DNA without altering it, it helps the motor neuron cells to make necessary proteins. It only requires one dose. However, it is also the most expensive drug out there with a $2.1 million dollar price tag.
In an interview with NPR shortly after the FDA’s approve, the president of Novartis Gene Therapies, the company that developed Zolgensma, justified the price by saying drug companies had to recoup some of the cost of research. He also called it cost-effective compared to other treatments which have to be administered multiple times.
Axel’s family had to fight their insurance company to get him the drug, but they succeeded, and he was treated just as they found out Lexa was on her way. Now fully versed in the challenges of SMA, James underwent prenatal testing and Lexa was diagnosed while still in the womb.
Luckily, she qualified for Zolgensma without issue, and a team at Woman’s Hospital began developing her treatment plan immediately. Zolgensma treatment specialists provided training on administering the drug.
“There are a lot of criteria to get approval from the insurance company,” James explained. “There was a lot of training. It’s a $2.1 million drug, so it’s like carrying gold. Everyone who’s around it, everyone who touches it, has to be trained. It took a lot of patience and a lot of time for people to be prepared.”
At 4 days old, Lexa became the youngest known patient to receive the treatment.
“We hope that we gave it to her in enough time that it will prevent the death of the motor neurons that would have occurred if she didn’t receive it, which will give her a much, much better chance of being asymptomatic,” said Dr. Stewart.
While it’s too early to tell exactly how the drug will change Lexa’s outlook, there are already good signs. At 3 weeks old, Lexa can breathe on her own and move her arms and legs and head well. At the same age, Axel had already been intubated. Lexa’s physicians will watch her closely to see how and when she hits developmental milestones, but her family is hopeful she will live a full, independent life.
“You live and you learn, and you appreciate, you appreciate every little thing you do. It’s changed our life for the better, definitely not for the worse,” said James. “Axel is a joy, and I think she will be as well.”
James also hopes their story will bring more awareness to SMA. Since Axel’s birth she’s been an advocate for adding SMA testing to standard newborn screening in Louisiana. That way any child born with SMA will be able to get treated sooner. Louisiana lawmakers support the idea, and the screening could be added in the near future.
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