WATERLOO — Hannah Perkins, along with her parents, participated in the annual Spinal Muscular Atrophy candle lighting ceremony Aug. 10.
August is SMA Awareness Month. The ceremony takes place on the second Saturday of August each year to honor the memory of those lost to and those continuing their battle with Spinal Muscular Atrophy and promoting awareness.
Perkins, 17, was diagnosed with SMA in 2003 after a lung collapse due to food aspiration and pneumonia.
“We knew something wasn’t right at birth. Hannah was unable to hold her head up and swallowing was difficult for her. She was weak overall,” said her mother, Jennifer Perkins.
Unfortunately, symptoms had to get worse before a clinical diagnosis and positive lab result indicated Spinal Muscular Atrophy Type I, she said.
“Andy (Hannah’s father) and I didn’t know we were both carriers of the gene that causes SMA,” Perkins said. “The prognosis wasn’t good according to the doctors involved and so we took our baby daughter home to make her comfortable.”
The curesma.org website explains more about the disease. SMA is a neuromuscular disease that affects all muscles. It is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat or breathe. It is the number one genetic cause of death for infants.
SMA is caused by a mutation in the survival motor neuron gene 1. In a healthy person, this gene produces a protein that is critical to the function of the nerves that control the muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness. SMA affects approximately 1 in 10,000 babies, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.
There are four different types of SMA. Type I is the most severe and also the most common. Babies with type I usually face greater physical challenges than individuals with other types of SMA. The expected lifespan of a child with SMA type I can vary dramatically based on many factors.
Individuals with SMA types II, III or IV often have normal or near-normal lifespans, but their physical abilities differ, since no two cases are exactly alike, and their abilities may change over time. Although SMA is not generally regarded as a progressive disease, individuals with SMA typically lose function as muscles continue to weaken.
“We had been told Hannah would most likely not live to see her second birthday,” Perkins said.
The Perkinses are thankful for the information shared through a SMA support website, started by a SMA mother, that connected them with other families facing the same challenges back in 2003.
“It was how we learned to manage the disease, special nutrition requirements, medical equipment options, therapies, treatments, and surgeries,” she said. “Such a great network of caring people with one common goal: to provide the best care for our loved one(s) and adapt as the needs change.”
Their protocol hasn’t changed very much over the years, except for the addition of a treatment approved by the FDA in 2016. Hannah receives doses of Spinraza (nusinersen) via lumbar puncture every four months in hopes of seeing some benefit. Spinraza is a prescription medicine used to treat SMA in pediatric and adult patients. In clinical trials, the drug halted the disease progression in around 60% of infants affected by type I SMA and also significantly improved motor function.
Perkins said this is only a treatment and not a cure. Funding is need for continued research; advancements are being made every day through clinical trials, she added.
SMA does not affect the brain. Perkins started her second year at DeKalb High School via Skype. She accesses her laptop using assistive technology through the use of a SmartNav hands-free camera mouse and Micro Light switch and moves proficiently around on her computer. She is able to complete assignments, read online material and enjoys creating artwork using Photoshop. Some of her artwork was displayed in the DeKalb High School art show last school year. She also enjoys listening to music and playing games in her free time. She uses Tobii Communication software that converts text into speech as her ability to speak is affected by the disease.
Being medically-fragile, a cold can escalate quickly into respiratory distress. Perkins became ventilator-dependent in August 2012 as the disease progressed and she was on continous BiPap support. It was getting harder to manage her respiratory status and a trach and ventilator were the next steps in managing the disease for the Perkinses.
“I think, how ironic that a disease that causes muscle-wasting has shown us how strong our daughter is,” Perkins said. “She is very determined and focused and an inspiration to others facing challenges.
“Although there are obvious risks, we still try to get out occasionally and enjoy life. Hannah was able to see ‘The Lion King’ and ‘Toy Story 4’ movies over the summer, in addition to Skyping with the Auburn Parks & Recreation Department and the Waterloo Grant Township Public Library to participate in some fun projects.”
As there are now treatment options available for SMA, it is critical to get the diagnosis as early as possible, Perkins said.
“SMA is currently the number one genetic cause of death for infants under 2 years of age. Several states have added SMA to their newborn screening. I encourage couples considering starting a family to talk to your doctor about testing to see if you might be a carrier. It is more common than you realize. Your risk for being a carrier increases if a family member is already a carrier.
“We will stay hopeful that the cure is in the near future and enjoy each day in the meantime.”