When I was about 6 years old, my father was diagnosed with a rare and deadly genetic disease called alpha-1 antitrypsin deficiency. He was told the diagnosis was terminal and given about three years to live.
This happened in the days before the internet, but my mother became a mad researcher and sought out every type of knowledge and resource about this disease. Eventually, she got my dad connected to a lung specialist in Denver at a time when a new treatment for the disease became available. For the rest of my childhood, every couple of weeks I would watch my mother give my dad an IV with a miracle drug called prolastin. This drug allowed my dad to live another 16 years.
He died at home on a Friday August evening. He fought hard to the end, and was on a list for a lung transplant at the time of his death.
My dad was very humble about his disease. Looking back now I think he was self-conscious and perhaps a little embarrassed. I have very few, if any, memories of my dad running or even walking at a typical pace. My dad had severe COPD and even walking from the bedroom to the kitchen took a toll on his body. He probably should have been on oxygen much longer than he was; he finally gave in and started wearing an oxygen tube the year before his death.
Walking in public places was always difficult for my dad. He’d have to stop after a few paces to catch his breath, and he always did a good job of making it look quite casual, leaning against the railing and starting up a conversation to not bring attention to himself. It was only a year or two before his death that he actually allowed himself to be pushed in a wheelchair in a public place. Perhaps facing his mortality made him care less about other people judging him.
My dad had a disability parking sign that he hung from the rearview mirror of our car. We only got it out of the glove box when we needed to park close to a building. He didn’t want any permanent disability emblem on the vehicle, and I think that was because of his own sense of pride.
At the time of my dad’s diagnosis, my three siblings and I packed ourselves into our old Ford station wagon and made a trip to Denver to be genetically tested for my dad’s disease. All four of us tested positive as carriers of the alpha-1 antitrypsin deficiency gene. Even today, we’re not entirely sure what the complications are from being a carrier of the gene, though we were told at the time that we should never smoke and to avoid second-hand smoke, as our bodies make less of an enzyme to protect our lungs.
Flash forward 15 years after my dad’s death, when I started experiencing health problems of my own. Mostly fatigue, chronic pain, muscle weakness and a difference in my gait, amongst other things. I saw at least 10 physicians, including four neurologists, racked up medical bills well over $25,000, and was eventually given a diagnosis of fibromyalgia and chronic fatigue syndrome.
However, despite my attempts at resting and taking supplements and self-care, new symptoms started to arise. Then I was introduced to a woman who suggested that I might have something called Ehlers-Danlos syndrome. I believe this was a moment of divine providence. I had never heard of the disease, and not one of the physicians who treated me ever mentioned the possibility of it. I Googled the illness, went over the preliminary symptoms and didn’t think I had it. Not long afterwards, I started getting more frustrating symptoms including constant nausea, a migraine headache that landed me in urgent care and some other issues. Again, this friend sent me more links about Ehlers-Danlos and eventually asked me if I had bendy joints.
Suddenly a light bulb went on. All my life I’ve been able to bend my fingers much farther back than anyone I have known, and as a kid I would entertain my friends and anyone who would pay attention with some cool tricks I could do with my tongue. I started researching Ehlers-Danlos and learned about the various subtypes. I started talking to family members about my dad and my aunt who also exhibited symptoms of Ehlers-Danlos, and I read practically every NIH article I could on the disease.
Suddenly everything made sense. Ehlers-Danlos syndrome is a connective tissue disease that affects collagen. Collagen affects pretty much everything in our bodies, from our bones to our blood vessels to our organs. When I read that EDS can affect bowels and the digestive system, cause chronic pain, and even cause neurological issues, suddenly all the dots started to connect.
Eventually, I was giving a preliminary clinical diagnosis of hypermobile EDS while we await genetic testing to rule out any of the other subtypes. Interestingly, in some of the NIH studies I’ve come across, it seems there may be a connection between alpha-1-antitrypsin gene carriers and EDS. While it hasn’t yet been proven, suggestions have been made in some studies that the alpha-1 antitrypsin enzyme might actually affect collagen levels.
As I learn to sit with this diagnosis, I feel a range of emotions. I feel relief in finally knowing what is going on with me. When you are pushed from specialist to specialist because doctors can’t pinpoint a diagnosis, there is validation in actually knowing that what you have is real. So many chronically ill women have been told they need to see a psychiatrist and will echo this sentiment.
As I researched this disease and know there is no cure, I am hopeful in knowing it can be managed. I have been referred to a physical therapist, and I’m learning what I need to do to keep my joints stabilized to prevent causing more damage to my body. This means wearing things like knee and elbow sleeves, special gloves to help me write so that my hands don’t get fatigued, and maybe even the use of a forearm crutch or cane.
I am a pastor and my work is visible within the general public. I preach in front of large groups of people, I help lead youth groups, I do hospital and nursing home visits. While my illness is nowhere near the severity of my late father’s, I’m realizing now that if I want to sustain a better quality of life, I need to use the resources available to me to help me live and work better.
My illness has progressed to the stage where my children are used to me not being able to do things with them. I was once an active long distance runner, taking the kids to the park a couple days a week, hiking with them, and now a walk around the block is too much for me to endure on most days. But if spending more time with them means walking with a cane or even utilizing a wheelchair, I will do it.
I’m coming out of the closet with my chronic illness — an illness that to most people is invisible, but now with a new treatment plan, it may be a lot more visible. I won’t let my stubbornness or my pride prevent me from spending time with the people I love, ministering to people in need, and doing things I enjoy. I won’t be ashamed to use mobility devices, and I am fully prepared to answer any questions that might come my way.
As a Christian and a religious leader, it’s my belief that God can use my limited physical abilities as a way for me to see with new eyes. I am already more conscious of the way I view visibly disabled people in my community, and I shamefully admit that I often overlook them.
Three months before my dad died, I graduated from college. He was very ill at the time and unable to make the 500-mile trip to my graduation. I know it broke his heart, but part of me wonders if he was concerned about being a burden or embarrassing me. I think that’s unlikely to have been the case, as his physical condition had deteriorated greatly by then, but I know there may have been some other times when my dad was reluctant to do things because he was worried about how he might have been seen by others.
And so today, as packages start arriving from Amazon with knee sleeves and elbow sleeves and a foldable crutch, I promise to be fully transparent with my children. I promise to have them push me to go places with them even if it means allowing my illness to become visible to others.
This fall, I am planning a trip to Israel with one of my best friends. I have wanted to go there my entire life, and now, knowing the health challenges I face, I know I need to go when I can still can. I think about all the places my dad wanted to visit. I think about all the dreams he had but was never able to fulfill. Two years before he died he made a trip out west to Oregon and was able to see the beautiful Pacific Ocean for the first time in his life.
I don’t know what his thoughts were when he was staring at the sunset over the Pacific waters, but I know in my heart that he wasn’t thinking about his illness; that he was mindful in that holy moment and enjoying being with the people he loved most.
Those are the moments I must allow myself to have with my family, and it doesn’t matter if I’m standing upright, or leaning on a cane, or even sitting in a wheelchair. Those moments will be holy. And there is no force on Earth, whether it be the judgment of others, my chronic pain, or even my own stubbornness, that can steal that holiness. I am out of the closet. Watch out, world.