Spinal Muscular Atrophy(SMA) struck not once, but twice in the Gibbs family from Roeland Park, Kan. Sisters Lauren and Claire were both born with SMA before their parents ever knew about the progressive, often lethal, disease affecting neurons and slowly taking away a patient’s mobility and strength. There is no cure, but a new drug called Spinraza is showing great promise for SMA patients. Lauran, the older of the two Gibbs’ sisters, participated in a clinical trial of the genetically-engineered Spinraza and her strength as well as mobility greatly improved. The drug has shown great promise in halting the disease or even reversing it in babies. The FDA approved Spinraza in December of 2016, and it is now available in the region only at The University of Kansas Health System to patients including 19-year-old Claire Gibbs. Patients diagnosed with SMA often end up unable to walk, use their arms, and eventually may not be able to breathe on their own. The drug must be administered directly into the spinal fluid of a patient, which can be extremely difficult in SMA patients. Each patient receives 7 doses the first year and then a spinal injection every four months for the rest of their lives. The drug, covered by insurance, costs about $120,000 per dose.
In the video, Dr. Alan Reeves, interventional radiologist at The University of Kansas Health System and assistant professor at the University of Kansas Medical Center gives Claire her shot on camera to explain how difficult the lumbar puncture procedure is with SMA patients. Claire talks about how the shot is helping her improve her strength and enabling her to attend college. She also shares her medical and personal goals for the future. Her mother, Natalie, belongs to a national SMA advocacy group to educate the public about the disease. She also shares how she and her husband, Tim, felt when they learned their daughters’ diagnosis.