Interview

Anna’s Story of Hope and Help: FUS-ALS with with Sonja Kämpfer and Dr. Neil Shneider

May 15, 2024

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Meet Anna

May is ALS Awareness Month. Let’s revisit a conversation between Stan Crooke, Sonja Kampfer, Anna’s mother, and 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, Vagelos College of Physicians and Surgeons. Anna was diagnosed with an aggressive, fatal form of ALS at the age of 16. ALS is rare in teenagers, and this form of ALS is the worst of the worst. Sonja tells Anna’s story from initial symptom onset, to diagnosis, and to Anna’s response to ASO treatment. As a parent, Sonja reveals her full range of emotions during the duration of her daughter’s disease: puzzlement, pain, humility, and now optimism.

On This Episode We Discuss:

  • Anna’s life before her symptoms appeared
  • The road to a diagnosis and treatment– from Germany to New York City
  • Neil Shneider and his work with ASOs
  • The struggles of a family fighting a nano-rare disorder
  • Anna’s mutation
  • Anna’s remarkable progress

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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 — German teen 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.

Sonja is the mother of Anna, a young German, who developed a nano-rare form of ALS (FUS P525L). Sonja is a rare disease advocate alongside her job at Vectis Consulting, where she works as an expert in organizational development, coaching, and leadership, conflict, and communication training, as her time permits. To learn more about Sonja, visit www.vectis-consulting.de/sonja-kaempfer

Neil Shneider, M.D., Ph.D., serves as the Claire Tow Associate Professor of Motor Neuron Disorders and the Director of the Eleanor and Lou Gehrig ALS Center at Columbia University. He is an investigator in the Center for Motor Neuron Biology and Disease where his lab focuses on the study of models and mechanisms of ALS and the discovery and development of novel therapeutics for ALS and related disorders. Dr. Shneider worked with Ionis Pharmaceuticals to develop ION363 (Jacifusen), an anti-sense oligonucleotide (ASO) for ALS patients with rare mutations in the FUsed in Sarcoma (FUS) gene.

In partnership with n-Lorem, he founded Silence ALS, an initiative to develop ASOs for ALS patients with nano-rare, pathogenic mutations in ALS genes.  Dr. Shneider is co-chair of the Translating Fundamental Research into Potential ALS Therapies Working Group for the NIH ALS Strategic Planning Workshop.

You can keep up with Neil and his teams work at the Eleanor and Lou Gehrig ALS Center on Instagram @ lou.gehrig.als.center.columbia and Facebook: Eleanor and Lou Gehrig ALS Center at Columbia University

Credits

Hosted by: Dr. Stan Crooke.
Videographer: Jon Magnuson of Mighty One Productions.
Producers: Kim Butler, Colin Delaney, Kira Dineen, Jon Magnuson, Andrew Serrano and Amy Williford.

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