As originally reported in Brandpoint, Kailey experienced a haunting tragedy as a child when her sister, Ashley, who was a year younger, experienced crippling symptoms from their shared progressive disease before she it claimed her life at age 6. These sisters both were diagnosed with spinal muscular atrophy, a disorder which robs the muscles of their strength, slowly weakening patients.
Spinal Muscular Atrophy
Spinal muscular atrophy is a rare genetic disorder in which the mutated gene destroys motor neurons, a vital nerve cell in the crucial spinal cord and brain. The deficit of motor neurons weakens muscles, causing difficulty walking, moving, talking, and in worse stages, vital needs like breathing. The progressive disorder has no cure, but there are various methods of supportive care. The disorder can be further divided into five types, each of which still present cases of varying severity and symptoms. The latest treatment for spinal muscular atrophy is a highly effective and expensive gene therapy called Zolgensma.
The Sisters’ Unique Medical Journeys
While the sisters shared the disease, Ashley had the type 1 variant, known for its severity, often preventing any motor skill development and with a rapid onset. Kailey had a more moderate version, type 3, which tends to cause weakness of varying intensity in adulthood. They had known that Ashley’s variation of the disease was more severe from the beginning. Still, the disease is progressive, meaning Kailey’s will still eventually advance to later stages.
Kailey’s more moderate version of the disease gave her something Ashley didn’t have: time for more effective treatment methods to develop. In 2016, the first approved treatment for the disease was made available: SPINRAZA. Once her doctor informed her of this treatment option, (a lumber puncture injected into the lower back a handful of times a year) she took it. Though her disease has not progressed to a crippling stage, she had witnessed her sister’s downward spiral, and she knows that she has a long road ahead. She wants to do everything she can. She uses a powered wheelchair and benefits from a home aid and the medication has given her mobility she would otherwise lack. She tells her story in hopes other patients will hear and follow her in handling their health with care.