Category: Community Spotlights

Meet Liv, a thoughtful and determined 13-year-old navigating the complexities of her teenage years and Nemaline Myopathy (NM) in Los Angeles, California. For those not familiar with Nemaline Myopathy, it’s a rare neuromuscular disease that weakens the muscles throughout the body, including those involved in movement, speech, swallowing, and breathing. The way NM manifests and…

Meet Priscilla, a bright and inquisitive 9-year-old from Mason, Ohio, living with Nemaline Myopathy (NM). NM is a rare genetic condition affecting the muscles, leading to significant weakness throughout the body. Priscilla carries the NEB gene variant and is considered to be severely affected by the disease, impacting her mobility, breathing, speech, and swallowing. A…

Meet Anthony, a 32-year-old graphic designer from the vibrant city of Haarlem, The Netherlands, who approaches life with a practical mindset and a genuine enthusiasm for connection and exploration. Understanding Nemaline Myopathy: Anthony’s Perspective For those unfamiliar with Nemaline Myopathy (NM), it’s a rare congenital neuromuscular disease, rooted in genetic mutations on one of 12…

Meet Audrey, a vibrant 6-year-old girl from Texas who approaches life with a joyful spirit, even while navigating the challenges of living with Nemaline Myopathy (NM). For those unfamiliar, NM is a rare neuromuscular disease linked to mutations in at least 12 different genes (with NEB and ACTA1 being the most common). It affects the…

Meet Tessa, a bright and resilient 3-year-old from Malta living with Nemaline Myopathy. Located in the Mediterranean, Malta is a small island country spanning just 122 square miles (316 km²) with a population of just over half a million. What makes Tessa’s story even more unique is that she is the only person in Malta…

A Diagnosis, A Fear, A New Path Enilton Neymakes Morais isn’t letting Nemaline Myopathy (NM) clip his wings. The 35-year-old Brazilian from Valente-Bahia speaks five languages and dreams of traveling the world, a testament to his adventurous spirit. His diagnosis came through a muscle biopsy, and it was met with a heavy dose of fear….

Early Signs, Diagnosis, and Medical Complexities Harneet Sandhu’s journey with Nemaline Myopathy (NM) began with early signs noticed by her mother when she was just three years old. “When I would fall while walking, I wouldn’t stand back up,” she recalls. Concerned, her mother sought medical advice, leading to a pivotal diagnosis of a muscular…

Alexandra Gresick isn’t letting Nemaline Myopathy (NM) define her. The 35-year-old St. Louis resident wears many hats – a university employee passionate about student success, a culture and language enthusiast, and a determined individual navigating a rare disease. Her journey with NM began with a dramatic turn. A Diagnosis and a New Chapter “Hospitalization for…

𝘛𝘩𝘪𝘴 𝘪𝘴 𝘵𝘩𝘦 𝘭𝘢𝘵𝘦𝘴𝘵 𝘪𝘯𝘴𝘵𝘢𝘭𝘭𝘮𝘦𝘯𝘵 𝘪𝘯 𝘰𝘶𝘳 “𝘍𝘢𝘤𝘦𝘴 𝘰𝘧 𝘕𝘔” 𝘴𝘦𝘳𝘪𝘦𝘴, 𝘱𝘳𝘰𝘧𝘪𝘭𝘪𝘯𝘨 𝘴𝘰𝘮𝘦 𝘰𝘧 𝘵𝘩𝘦 𝘮𝘦𝘮𝘣𝘦𝘳𝘴 𝘰𝘧 𝘰𝘶𝘳 𝘶𝘯𝘪𝘲𝘶𝘦 𝘢𝘯𝘥 𝘥𝘪𝘷𝘦𝘳𝘴𝘦 𝘕𝘔 𝘊𝘰𝘮𝘮𝘶𝘯𝘪𝘵𝘺. Noelle Nuñez and her son, Ezmile, are rewriting the narrative of Nemaline Myopathy (NM). Noelle’s journey began invisibly, a condition that went undiagnosed for years, silently shaping her life. “I didn’t get…

Mila Giselle Davila is all smiles and sunshine. At five years old, the Houston, TX resident exudes a vibrancy that transcends the challenges of living with Nemaline Myopathy (NM), a rare congenital muscle disease. But Mila’s journey began with a fight, a fight that would shape her life and the lives of those who love her most.

The second installment in our “Faces of NM” series featuring the unique stories of members in our diverse and incredible Nemaline Myopathy community. Nicole Riedie, a marketing professional from Sherwood, Arkansas, is no stranger to adversity. Diagnosed with Nemaline Myopathy (NM) at a young age, Nicole has faced a lifetime of challenges, yet her story…