Florida Dad Receives First-in-World ALS Treatment
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Before the sun rises at his home near Orlando, Florida, Rakesh Parekh, M.D., is already making the most of the day. He reviews patient notes and exercises before joining his wife, Tejal, in preparing their children for school. Time means a great deal to Dr. Parekh.
In 2020, he was diagnosed with amyotrophic lateral sclerosis (ALS) after muscle weakness began to affect his movement. ALS is a nervous system disease that affects nerve cells in the brain and spinal cord. Worsening over time, ALS affects control of the muscles needed to move, speak, eat and breathe.
"You get this diagnosis, and you know, within three to five years, you're no longer," Dr. Parekh says.
He was familiar with the disease long before his own diagnosis.
"My father lived with ALS," Dr. Parekh says. "I know time is of the essence."
Initially working with a care team closer to home, Dr. Parekh and Tejal were determined to find a way forward to preserve his quality of life and possibly help others, including their children, who have a chance of inheriting the gene mutation. The couple began messaging physicians, researchers and friends around the world. That's when they learned about the work of Bjorn Oskarsson, M.D., a Mayo Clinic neurologist.
A Personalized Approach
Dr. Oskarsson and colleagues at Mayo Clinic have spent their careers looking for answers and options for people diagnosed with ALS. A multidisciplinary care team met with Dr. Parekh in May 2021 and began tests to determine the best way forward.
"We worked with our outside partner to develop an individualized treatment made just for him," Dr. Oskarsson says.
The therapy aims to stop protein production by targeting the gene mutation and halting the progression of the disease. After nearly two years of testing and preparations, Dr. Parekh's first treatment was an injection in his spine in April 2024.
"He is the first person in the world to have received this treatment," Dr. Oskarsson says.
He would make the trip from Orlando to Jacksonville twice over the next two months. From there, he was placed on a dosage that only required him to travel for treatment once every three months.
"More than just ourselves, this would be a step forward for all the other people getting diagnosed with ALS,” Tejal says. “It would be something for them — hope.”
A New Outlook
One year after treatment started, the results are exciting to the Parekhs and Dr. Oskarsson.
"This is something that is truly new, and one day we will get there for everyone," Dr. Oskarsson says. "And when that happens, there's nothing that compares. It's a beautiful thing."
Back home, Dr. Parekh reflects on how this treatment has changed his outlook. His 25 years working in healthcare did not prepare him for what it would be like to receive care, let alone a therapy that may benefit his children one day.
"Not only has it made an impact on our lives, but honestly, it's made an impact on the way I practice because I realize now what patients need beyond healthcare," Dr. Parekh says.
A version of this story was published on Mayo Clinic News Network.
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