This episode features guests Dr. Neil Shneider, director of the Eleanor and Lou Gehrig ALS Center and the Claire Tow Associate Professor of Motor Neuron Disorders in the Department of Neurology at Columbia University, and Sonja, the mother of Anna. The conversation revolves around the story of Anna — a 17-year-old German girl battling an aggressive form of ALS. Anna’s experiences in the long road from diagnosis to treatment were brutal and heartbreaking but can serve as a sign of hope to other nano-rare patients and their families.
In kindergarten, Anna often noticeably trembled and was brought to a neurologist that assured Sonja and her husband not to worry. Listening to the advice of the doctor, they moved past it and Anna went on to live a normal healthy life and was a very happy, active and athletic child. It was not until she was 15 that the symptoms of her disorder began to manifest. From what appeared to be out of nowhere, Anna began having trouble breathing and eating, which led to her losing the ability to speak and significantly declining in weight. She continued to suffer while growing weaker and was placed on a gastric tube to help her breathe, eat, and ultimately survive.
Unknown to why this was happening to their daughter, Sonja and her husband contacted many physicians to seek answers, but none could figure out the cause. In 2020, genetic testing revealed Anna’s shocking diagnosis of a debilitating nano-rare form of ALS, FUS P525L. Physicians, who look for patterns, seldom recognize a rare disorder immediately. Nor do they expect ALS to exist within a 15-year-old girl, as it typically affects people between the ages of 40 and 70.
After many failed attempts speaking with specialists, Sonja connected with Dr. Shneider of the Eleanor and Lou Gehrig ALS Center at Columbia University in New York. Dr. Shneider gladly accepted Anna as a patient and administered her Jacifusen, an ASO medicine he helped discover in partnership with Ionis Pharmaceuticals. He believes that Anna has had a remarkable response to the ASO and is optimistic about the treatment potentially leading her to a better life.
Sonja reveals that while her daughter’s disease has been an emotional rollercoaster with unimaginable pain for Anna and the entire family, they now have hope. Hope for a better life that motivates them to keep fighting and persevere through it all. At n-Lorem, we strive to provide patients with the hope Anna and her family now have. Anna’s story highlights the struggles of a nano-rare patient, and the value of hope amidst those hardships.
Update: In September 2022, Anna’s family heard her voice for the first time in over a year and she is now able to walk up stairs unaided. Anna plans to one day tell her story in an episode of the Patient Empowerment Program podcast. Watch video.