Now, I Understand My Dad in a Way I Never Have Before

I’ve never used a fax machine. In fact, I hardly know how they work. So it’s been difficult for me to imagine my dad, Jack, sending his doctor a fax about his need for regular testing of his very long chain fatty acid levels in the early 1990s, years before I was born.

In the months before that fax was sent, my dad was diagnosed with adrenomyeloneuropathy (AMN), the later onset form of the rare neurological disease adrenoleukodystrophy (ALD). AMN causes dysfunction of the spinal cord, which results in walking problems, bladder and bowel issues, neuropathy and more. This diagnosis explained why my dad had been particularly clumsy and walked with a strange gait since his 20s.

What  we know about AMN and ALD has changed a lot since the early 1990s. For starters, very long chain fatty acid levels do not necessarily correlate to disease severity as was once thought. More importantly, it’s now well known that over 40% of men with AMN experience cerebral involvement — meaning their brain is also affected by the disease — and in 20% it is severely progressive, leading to complete disability and death. When my dad was diagnosed with AMN, this was not as clearly defined.

My mom remembers learning about my dad’s AMN diagnosis when they began their relationship, but does not recall any doctors communicating risk of cerebral disease. In fact, she says he was told he may need a cane when he was older, but that was really all he needed to worry about. So when he began experiencing behavioral changes in 2001, no one connected this to his AMN. It wasn’t until months later that a counselor suggested he get an MRI of his brain to rule out a brain tumor. Only then did my family discover my dad’s brain had demyelination consistent with cerebral ALD. Two years later, he was gone. 

Since I was in kindergarten when he died, most of what I know about my dad’s experience with ALD comes from the stories I have been told, mostly from my mom. A few years ago when my mom was cleaning out her office, she came across a folder with a plethora of documents that she used to keep track of everything ALD-related when my dad was still alive. There are many types of documents in this folder — faxes from my dad to his doctors, handwritten notes my mom kept detailing my dad’s symptoms, letters from medical professionals about my dad’s prognosis, information about bone marrow transplants printed from early 2000s search engines. 

While I have always been eager to learn more about what my dad’s losing battle with ALD was really like, I didn’t open this folder until about a year ago. I knew there would be things difficult for me to read, especially about my dad’s dementia which made him act in ways that were extremely out of character. I also knew I would learn things I didn’t know before, or find out things that would challenge my long-held understanding of my dad’s experience with this disease. All of these were true.

It’s been almost 20 years since I lost my dad, and while time does not heal, it does make grief feel more like a dull ache than a stabbing pain. I don’t often get outwardly emotional when thinking or talking about my dad, but reading through these pages made me feel the weight of his loss that I haven’t felt in a long time. It also helped me paint a much clearer picture of what my family went through all those years ago.

Through these letters and notes I was able to imagine him as he was before ALD took everything from him, like hearing his voice in the way he wrote the fax to his doctor. Now, I understand my dad in a way I never have before.

As I got older I became highly involved in the ALD community — attending annual conferences, participating in Facebook groups, staying updated on the latest research and clinical trials. I have a vested interest in staying involved given the fact that ALD is an X-linked disease, meaning I inherited the gene variant from my dad. ALD most severely affects boys and men, but many women with the gene (traditionally referred to as “carriers”) eventually experience AMN-like symptoms. I have also become an advocate for ALD and all rare diseases, particularly on social media. 

And about a year ago, I joined the team at AllStripes to help aid in their mission to unlock new treatments for people affected by rare disease. I’m grateful to work for a company that aims to help people in the rare disease community piece together the details of their journeys. I know firsthand how meaningful this information can be.