ALD: Beyond the Diagnosis

Watching as her father’s mobility and memory deteriorated before her eyes, Dawn was no stranger to the devastating effects of what she attributed to her father’s progressing age. As her father’s caretaker, she and her kids had grown used to helping him through his bouts of brain fog and difficulty making his way around the house. However, when a particularly concerning incident left him trapped in the bathroom after not remembering where he was, Dawn wondered if something more grave may be affecting her father. After pursuing genetic testing following this incident, Dawn received the news that her father had an X-linked condition known as adrenomyeloneuropathy (AMN). A mother to two children, this diagnosis incited anxiety in Dawn as she realized she may be a carrier of this debilitating disease. 

Immediately following this news, she frantically sought genetic counseling to learn what this meant for her two children, dedicating all her lunches and evenings to this feverous hunt. Despite her efforts, Dawn was met with incredulous healthcare specialists telling her she was crazy to ask for genetic testing when her children were displaying no signs of this disease. 

At 22, however, her son’s perfect health took a turn. He began, “walking like a drunk guy,” and falling over frequently. His mobility eventually worsened to the point that he could no longer walk on his own and required the help of a wheelchair or crutches. Despite these alarming symptoms and Dawn’s pleas to test for the very disease that claimed her father’s life, her primary care team refused. Finally, after nearly succumbing to adrenal failure in 2011, her son received a diagnosis of ALD, or adrenoleukodystrophy, the same disease that crippled her father, but with earlier onset.

Given this diagnostic odyssey that only confirmed what she had already suspected,  it came as no surprise when Dawn expressed, “I don’t have faith in my doctors.” For nearly 15 years, she battled doctors to get the proper care for her son, a struggle that is all too familiar within the rare disease community. 

With her son’s eventual diagnosis, Dawn felt she could begin focusing on her own health and started seeing a neurologist who could treat the mobility-related issues she had begun to experience. An unfortunate reality for women battling X-linked diseases, she found herself having to print out research articles to share with her doctor to educate him about female experiences with ALD. On this, she notes,  “If you’re not a strong, outspoken person, I could see you not having anything taken care of.” Without the support and guidance from communities like ALD Connect and Remember The Girls where women can share stories and symptoms, Dawn admits she could have easily been talked into getting unnecessary surgeries and painful, ineffective procedures.

Such communities have acted as a safe space for Dawn where she can go to receive validation about her condition and the challenges that come with living with ALD. Speaking to this, she notes that these communities have been especially helpful in identifying her mobility-related issues and urinary incontinence as manifestations of ALD. These symptoms, she laments, have been the sources of considerable discomfort and ostracization both in her personal and work life. In the workplace primarily, they have forced her to feel the need to explain her condition to others and expose details about her personal life she would otherwise not want to share. Such repetitive and draining conversations left Dawn so fed up that, as a means of preserving some semblance of her privacy, she began to respond to workplace inquiries about her condition by simply saying her disease was like multiple sclerosis – an explanation that could explain her mobility issues without requiring her to provide intimate details about herself. This self-preserving tactic has saved her from a number of awkward and intrusive conversations concerning her personal life and allowed her to feel some sense of privacy about her health.

While navigating these symptoms and the challenges of living with a visible disease have been challenging, Dawn says she is incredibly grateful that she has her family to lean back on. Her son especially, who despite being in a wheelchair has pursued his passion to be a personal trainer, has been an inspiration to her. Undeterred by the loss of his mobility, he has shown her that ALD does not need to consume your life and continues to maintain a positive attitude in light of the many challenges he faces because of ALD. As he takes on hiking trails and performs athletic feats, his can-do attitude has shown Dawn that anything is possible. 

Her daughter additionally, who went on to become a physician’s assistant, has been incredibly helpful both as a source of support and as a second opinion for her and her son’s doctor recommendations. Having her daughter’s input has also allowed Dawn to see a different perspective of the medical field – one that is more forgiving of these professionals. With her daughter’s experience, she has been made aware of the constant pressure put on practitioners to meet patient quotas. With these numbers looming over their heads, medical professionals are hindered in their ability to provide thorough analyses and special attention to each patient. This makes it easy to miss details or fall into the habit of making snap judgments and assumptions about a patient’s symptoms. Having this perspective, Dawn shares that in a perfect world, medical professionals would be individuals who truly listen to their patients and think outside the box, resisting the tendency to make rash assumptions. 

While Dawn and her family have suffered at the hands of negligent doctors, she continues to take on life with a sense of hope and optimism. Recognizing that her health is not a guarantee, she vows to make the most of each day and spend as much time as possible with her family, proving that life does not end with a diagnosis.