Mark Egly Foundation

Mark's Story

A Journey from Misdiagnosis to Health Miracle

The Challenge of Misdiagnosis

Medical Imaging Oversight

For decades, radiologists failed to identify panlobular emphysema on Mark's numerous x-rays, CT scans, and MRIs. It wasn't until February 26, 2018, that a radiologist at Broadlawns Hospital finally recognized the telltale signs of this condition. This crucial diagnosis prompted Mark to request testing for Alpha-1 Antitrypsin Deficiency (AATD), confirming his own research-based suspicion.

When previous imaging was reviewed, the panlobular emphysema was clearly visible—it had been there all along. This revelation became a driving force for our foundation's mission: to educate the medical community about this rare form of emphysema that affects both smokers and non-smokers alike.

Blood Test Paradox
  • For three decades before his AATD diagnosis, Mark's blood work consistently returned within normal ranges on annual physicals and multiple life insurance examinations.
  • Despite perfect test results, Mark suffered from a persistent cough and chronic pain, leading many physicians to dismiss him as a hypochondriac.
  • Throughout 30 years of complaints and multiple chest x-rays, no physician considered testing for Alpha-1 Antitrypsin Deficiency—until Mark insisted on it in 2018, based on his own extensive research. At that time, only 8,000 people worldwide had been identified with AATD.
The Pain Factor

Over 30 years, Mark endured three no-fault auto accidents, including two incidents where distracted drivers texting at the wheel struck his stationary vehicle at high speeds. These collisions resulted in multiple broken bones and injuries affecting his right knee, right shoulder, head, neck, and back.

For years, his deteriorating health and chronic pain were attributed solely to these accidents. However, the underlying cause was far more significant: without adequate Alpha-1 Antitrypsin—a crucial protease inhibitor—Mark's body couldn't control inflammation properly. Neutrophils, which normally fight bacteria and infection, were instead prolonging inflammation and causing unnecessary, extended pain throughout his body.

Mark's Remarkable Recovery with Alpha-1 Antitrypsin Treatment

Since beginning treatment, Mark's transformation has been nothing short of miraculous:

  • Restored Mobility and Independence: No longer bedridden, disabled, or rapidly declining, Mark is once again an active contributor to his community.
  • Significant Weight Gain: From a frail 149 pounds at diagnosis to a healthy 200 pounds.
  • Cough Resolution: His persistent cough has improved by at least 95%.
  • Stabilized Lung Function: Mark's lung deterioration has stopped completely. His 2022 pulmonary function tests matched his baseline results from four years earlier—a remarkable achievement.
  • Improved Mental Health: Depression and hopelessness have been replaced with optimism and enthusiasm for the future.
  • Reduced Pain: Significant relief from chronic pain throughout his entire body.
  • Renewed Strength and Vitality: Dramatically improved physical strength and a renewed drive to live life fully.

Why This Matters to Everyone

Mark's Journey to Discovery
  • In February 2018, Mark was diagnosed with emphysema and COPD.
  • Drawing on his research since 1976 into what had been claiming his family members for over 150 years, Mark spent just five days researching before requesting a test for Alpha-1 Antitrypsin Deficiency.
  • His self-diagnosis proved accurate, opening the door to life-saving treatment.
  • The number of people Mark has personally helped identify with AATD is substantial—but it's just the beginning. Well-equipped and knowledgeable physicians can make these numbers pale in comparison.
A Simple Test Can Save Lives

Health professionals can now diagnose AATD with a straightforward blood test in as little as one day—a stark contrast to the current average of eight years and four healthcare providers it takes for the fortunate patients who do get diagnosed.

Mark's Greatest Hope for the Medical Community

Mark's mission is clear and urgent:

  1. Early Detection Saves Lives: The medical community can start saving countless lives through proper and early detection of this easily treatable condition. The earlier treatment begins, the more effective it becomes.
  2. Identifying Candidates for Treatment: We are working to identify patients who should be considered for infusion therapy according to established standards of care, and advocating for expanded treatment criteria.
  3. Ending Generations of Suffering: A disease that has needlessly taken members of Mark's family and countless others for centuries can finally be addressed through knowledge, understanding, and proper medical protocols.
  4. Changing Standards of Care: Our foundation is dedicated to educating the medical community that the current standard of care must evolve to include routine identification and treatment of Alpha-1 Antitrypsin Deficiency.

Mark's story is a testament to the power of patient advocacy, the importance of questioning diagnoses, and the life-changing impact of proper treatment. Through the Mark Egly Foundation, we're working to ensure that no one else has to suffer for decades before receiving the diagnosis and care they need.