According to a story from medicalxpress.com, Dr. Nathan Hoot is an emergency medical physician, but his role as a doctor doesn’t entirely end when he leaves the hospital because his son Levi was born with a rare genetic disorder: spinal muscular atrophy type 1. Dr. Hoot and his wife Leah realized that Levi was fussier and had less muscle mass than other newborns, and even from his first week of life, Nathan says that he had a feeling that something was off. Levi was ultimately diagnosed when he was just three and a half months old.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.
Miraculous Timing
As it turns out, the US Food and Drug Administration (FDA) approved the drug nusinersen (marketed as Spinraza) as the first ever treatment for spinal muscular atrophy in 2016 just weeks before Levi was diagnosed. The boy began to receive treatment at four months old. The treatment at first halted his disease progression before eventually leading to improvements.
While Dr. Hoot is thankful for the timing of this approval, he nevertheless agrees that the treatment is a financial strain on his family. The extra care that Levi requires has also informed him on the challenges of being a caregiver and what it means to truly take into consideration the circumstances of patients with special needs.
Today, Levi is continuing to show signs of improvement, and while he cannot walk (at least yet), he is able to get around well enough with his wheelchair. Dr. Nathan Hoot and his family couldn’t be more thankful.
