Patient Spotlight: Estopinan Family Advocates for TK2-Related Mitochondrial DNA Depletion Syndrome Dakota Campbell Thu, 05/26/2022 - 13:33
The Estopinan family at an outdoor gathering

Art Estopinan is a government consultant and political advisor who has spent his life advocating for different causes. When his son Arturo, now 11, was diagnosed with TK2-related mitochondrial DNA depletion syndrome (MDS), the Estopinan family became his biggest advocates. Here, Art shares their journey from facing a difficult prognosis to finding a therapy that saved his son’s life. 

Patient Spotlight: Billy Anton Balances Management and Lifestyle with Primary Ciliary Dyskinesia Dakota Campbell Tue, 03/29/2022 - 10:02
Headshot of Billy Anton

Billy Anton is a business professional and vice chair of the PCD Foundation Board of Directors. He is also diagnosed with primary ciliary dyskinesia (PCD), an inherited condition in which mucociliary clearance of the lungs is impaired, causing recurrent infections that may lead to hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi). Here, Billy shares his journey with PCD, from early diagnosis to getting involved in research and patient advocacy.

Patient Spotlight: Felipe Polo-Wood Forges Ahead with Myasthenia Gravis Dakota Campbell Fri, 02/25/2022 - 15:58
Headshot of Felipe Polo-Wood

Felipe Polo-Wood is an innovator—both in his work as an IT consultant and as a patient with myasthenia gravis (MG), a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Here, Felipe shares his journey with MG, from fighting for a diagnosis to making a difference through research participation.

Patient Spotlight: Mitchell Magyar Makes an Impact on Urea Cycle Disorder Research Dakota Campbell Thu, 12/16/2021 - 11:03
Mitchell Magyar with his mother and sister, wearing sunglasses and smiling
Mitchell Magyar, center, with his mother, left, and sister, right.

Mitchell Magyar is a 13-year-old who loves golf, hiking, archery, riding his bike, and playing video games with his friends. He is also diagnosed with argininosuccinic aciduria (ASA), a type of urea cycle disorder. Here, his mother Amy Magyar shares their journey with ASA, from diagnosis to getting involved with advocacy and research participation.

Patient Spotlight: Anthony Anzell Fights Hereditary Hemorrhagic Telangiectasia with Endurance and Education Dakota Campbell Tue, 10/19/2021 - 14:05
Headshot of Anthony Anzell, PhD
Anthony Anzell, PhD

Anthony Anzell, PhD, is a postdoctoral fellow at the University of Pittsburgh studying hereditary hemorrhagic telangiectasia (HHT). He also happens to be an HHT patient. Here, Dr. Anzell shares his HHT journey, from diagnosis, to ultramarathons, to the lab.