To celebrate our 50th episode we are honored to welcome Dr. Robert Bucelli on the show. He is a leading expert in neuromuscular neurology and a dedicated advocate for advancing treatments for neuromuscular disorders.

In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as:

• What neuromuscular neurology entails and who is affected.
• The role of genetics in diagnosing and treating neuromuscular disorders.
• Common symptoms, risk factors, and diagnostic approaches.
• How therapies like physical and occupational therapy play a role in management.
• Lifestyle modifications, including diet and exercise, to minimize risk.
• The latest advancements in research and treatment, including ASO therapy.
• Strategies for coping with the challenges of living with neuromuscular conditions.

Dr. Bucelli has been a practicing neurologist at the ALS Clinic since 2011. He is an Associate Professor of Neurology at the Washington University School of Medicine in St. Louis where he serves as the Site Principal Investigator on several clinical studies relating to ALS.

After graduating summa cum laude from Canisius College in Buffalo, New York with a degree in biology, Dr. Bucelli went on to receive his medical degree and PhD from the State University of New York at Buffalo as part of the Medical Scientist Training Program. He then completed an internship in internal medicine and postgraduate residency in neurology at Barnes-Jewish Hospital and the Washington University School of Medicine, followed by a postgraduate Clinical Fellowship Training Program in the Department of Neurology’s Neuromuscular Section, also at Barnes-Jewish and Washington University. He is also a graduate of the Washington University and Barnes-Jewish Hospital Academic Medical Leadership Program for Physicians and Scientists.

Dr. Bucelli is expert in diagnosing and treating neuromuscular disorders including amyotrophic lateral sclerosis. He also reads and interprets muscle and nerve biopsies to aid in the diagnostic evaluations of patients seen at Washington University and many additional outside institutions. Dr. Bucelli’s clinical expertise guides exemplary multidisciplinary ALS care in the neuromuscular clinic. His skill in delivering drugs to the fluid surrounding the spinal cord has enabled Dr. Bucelli’s and Washington University’s leadership in trials using to turn off the production of harmful genes that cause ALS.

Dr. Bucelli has received numerous awards for excellence in teaching and clinical work at Washington University. He is a five-time recipient of the Eliasson Award for Teaching Excellence and has authored over 40 peer-reviewed manuscripts. He is a frequently invited guest lecturer and presenter at regional and national conferences.

Stay tuned for the next new episode of “It Happened To Me” in the New Year on January 6th, 2025! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.

“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In this inspiring episode of It Happened To Me, hosts Cathy and Beth sit down with Alex Brito, a remarkable advocate in the rare disease community and one of the first 100 individuals diagnosed with neuromyelitis optica spectrum disorder (NMOSD). NMOSD is a rare neurological disease that affects an estimated 6,000 Americans, causing severe and unpredictable relapses that can lead to vision loss, chronic pain, and paralysis.

Alex shares her journey, from the challenges of misdiagnosis and temporary paralysis to her empowering outlook on life with NMOSD—she affectionately refers to the condition as “her bestie.” Alex’s dedication to advocating for individuals with disabilities is evident in her work teaching adaptive technology to those with vision loss. Her incredible resilience is matched by her active lifestyle, which includes powerlifting and earning the distinction of being the first blind woman to achieve a yellow belt in Krav Maga.

Listeners will also learn about Alexion's short film, Rare Connections in NMOSD (Accessible Version), which highlights Alex’s story and helps raise awareness about this rare disease.

Key Takeaways:

• What is NMOSD, its symptoms, and the challenges in diagnosing this rare condition.
• Alex’s personal journey with NMOSD, including vision loss, paralysis, and finding strength in adversity.
• The importance of adaptive technology and how Alex empowers individuals with vision loss.
• Alex’s inspiring accomplishments as a powerlifter and martial artist.
• Insights into Alexion’s short film Rare Connections in NMOSD and its impact on awareness and advocacy.

Resources Mentioned in This Episode:

• Watch Alexion's short film, Rare Connections in NMOSD here
• Alex mentioned using JAWS, a screen reading program for those with vision difficulties
• Support organizations for NMOSD that Alex recommends in the episode are The Guthy-Jackson Foundation and The Sumaria Foundation
• Learn more about NMOSD through the organization NMOSD Won’t Stop Me

Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.

“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.