It started a few days before my twenty-fifth birthday. My parents and I were enjoying a meal and some time together at a local Italian restaurant near their snowbird residence. I must have said something to trigger a thought in my mother because the conversation took a sharp, depressing turn.
Realistically the story started years before, and quite frankly, it wasn’t even a story on my radar. My parents had done a great job of protecting me from probable and crippling anxieties. Being a worrywart, everything they hid from me would have been enough to give me valid concerns. The more I think about it, they probably would have told me sooner if I had been more observant and asked more questions, but then again, sometimes ignorance really is bliss.
I have a genetic disease. It’s called Dyskeratosis Congenita. For a long time, my brother had been suffering from numerous and sporadic physical ailments. If my parents hadn’t done such intensive research into his health and found his diagnose, I may never have been diagnosed. My brother and I are the second and third documented cases of the eleventh strain of this disease. I never imagined the first time I’d be written about would be in medical journals.
So there we were, having a great time eating pasta and drinking wine and root beer, when she told me the news. When I heard the diagnose, I didn’t take it well. My first reaction was anger. We were two minutes away from our house and about to pay the bill. Why the fuck didn’t she wait? Why did she tell me in a public place? Did she expect me to take the news well? “Dear sir, we regret to inform you that you have been diagnosed with an extremely rare genetic disorder that can lead to bone marrow failure, pulmonary fibrosis, liver failure, and a plethora of cancers. If you have any questions, please contact us at ___” As if that’s how I was going to interpret it all. I got mad. I swore at her. I was distraught.
I feel like this is the time where I should tell you about the disease itself. I’ll keep it simple. Dyskeratois Congetia is a genetic disorder that affects the telomeres of a person’s DNA. While your telomeres help to protect your DNA from essentially unraveling, mine don’t really do that all too well. Mine are a lot shorter than most and it makes it so I, in very basic terms, age at an accelerated rate. Here’s some cheery statistics for you to put things in perspective:
• Less than one in one million people are diagnosed.
• Less than five hundred people worldwide have been diagnosed to date.
• Most patients succumb to bone marrow failure and/or pulmonary fibrosis.
• Most patients are at very high risks for many cancers and leukemia.
• Most patients don’t survive past sixteen and rarely past thirty.
When you get told that kind of stuff, you freeze up. This is why I was so mad. My brother had been diagnosed a few years before and that’s what led to my diagnosis. We were chosen by the genetic lottery gods. We were two in a million. A rarity.
It’s been a little over two years since that day. I have a team of doctors that’s compromised of nearly a dozen specialists in fields such as neurology, dermatology, hematology, pulmonology, and a various assortment of other “-ologies”. I’ve become symptomatic. I have a little bit of grey hair. I have nail dystrophy. I’ve started developing pulmonary fibrosis and my blood work shows that my numbers are slowly dropping. I’ve had bone marrow aspirations, a cystoscopy, and a bunch of other procedures. All of them without anesthesia. However, it’s all become quite routine to me.
The anger I felt two years ago has dissipated. It was replaced with the feeling of impending doom. Granted, it’s on a much smaller and personal scale, but it’s tormenting nonetheless. I used to go to doctor’s and just hope everything would turn out fine. Now, I’m impatiently waiting until they find something. It’s inevitable.
My schedule is filled with doctor’s appointments. My brain is filled with anxieties. My depression is at an all-time high. Everything I had planned for my future seems like a waste of time. Suicidal thoughts are common. I’ve had depression my entire life, and now it’s in overdrive.
Being a writer is one of my saving graces. It allows me to flush all this darkness out into the world. I can finally tell people how things look from While people say my story is only beginning, I know that it’s already ending. But I still write it all out. It’s something. It feels good. And it’s not another symptom of my fucking genetic disorder. It’s life affirming. And knowing how little time I have left, it amazes me that more people aren’t filling up pages every second. I can’t tell you what it all means, or how to deal with life and death. But I’ll tell you to write. It’s the one thing that’s worked for me.