IT HAPPENED TO ME: I'm Being Held Hostage by my Damaged DNA

Problems in the mitochondria can manifest in diseases in almost any system of the body, but they are frequently found in the muscles, brain, eyes, kidneys, liver, and GI tract.
Publish date:
September 11, 2014
healthy, genetics, DNA, mitochondrial disease

I put on a knee brace for the first time yesterday, cinching the black bands tighter and tighter, until they finally held my knee joint in place. As I stood up, I caught a glimpse of myself in the mirror. Knee brace, red hair, Gatorade. It wasn't me anymore. It was my mother.

My mom has always been sick. She suffered from one strange ailment after another, many of which sounded pretty alarming to me as a kid. Her mother wasn't in good health, either, and her siblings and their kids had a litany of medical problems, too. I didn't think much of my own childhood health problems, mostly because being unhealthy seemed to be the norm in my family. It was before the age of Google, WebMD, and Facebook. I saw my family's health problems, and my own became normal -- or at least not that abnormal.

As I reached adulthood, though, it really seemed like something was amiss. I had been born with only one hand, and I started to develop one weird health problem after another. They never quite fit the mold, so most doctors blew me off, and a few even suggested that maybe I was just "tired" or "depressed." But eventually I got bad enough to be taken seriously.

By 2011, after the birth of my youngest children, my health had reached a critical point and I found myself in and out of the hospital, on oxygen, and on high doses of steroids (for life, they said). Where I had once figured that I just wasn't overly healthy, now I began to wonder whether I even had that many years left to live. I was 33 years old.

My mother, then 54, also began to decline. After a year or two, she had to leave work and receive in-home nursing care, where she largely remained in bed. Around the same time, one of my youngest daughters began to exhibit concerning symptoms and was eventually diagnosed with a "possible" mitochondrial myopathy. The answer to all of these strange, seemingly unconnected health problems suddenly dangled just out of reach, hidden somewhere in our shared cellular pudding.

Mitochondria, as I later learned, are the tiny powerhouses found in every cell in our bodies other than red blood cells. They provide energy, regulate metabolism, and perform waste removal on a cellular level, among other things. Problems in the mitochondria can manifest in diseases in almost any system of the body, but they are frequently found in the muscles, brain, eyes, kidneys, liver, and GI tract.

There is no simple test for mitochondrial disease. Diagnoses are made based on genetic testing (if insurance will cover the expensive tests and/or a known mutation is even found), muscle biopsy, lab work, and clinical findings. However, there are few mito specialists in the country and most have lengthy waitlists, if you're lucky enough to live near one.

Despite living in Seattle, home of darn near every type of research and medical facility in the world, I wasn't one of the lucky few. In fact, there isn't a single adult mito specialist in my entire state, or even any of my neighboring states. Instead, I was sent to a general geneticist for an evaluation and testing.

My geneticist isn't a fan of whole genome genetic testing. She says that we simply don't know enough yet to interpret the results. She says that it uncovers all sorts of unexpected risk factors. She says that it's overwhelming. I said that I wanted it done before my last few months of full coverage insurance ran out. I said that I wanted to have access to my genetic information, even if we don't know how to interpret it yet. I said that it's better to have information now and interpret it through time.

But, she is the doctor, and I am just the patient. So, I didn't get that $20,000 genetic testing done when my insurance would've covered it. Instead, I was sent for a $30,000 muscle biopsy.

On the day of the muscle biopsy, I snuck my iPhone into the OR in the pocket of my hospital gown. I wanted to take a picture in recovery of the gash left when they removed a piece of my muscle. I wanted to remember that day, in case it finally brought me answers. I didn't realize then that the scar was never going to fade from my arm or from my mind. I also didn't realize that my diagnosis would only bring a brief validation, and a permanent, unrelenting awareness of my own life's thief.

Mitochondrial disease can be fatal. My form isn't terminal, in the common sense of the word. It will probably not kill me anytime soon. But, it is there, in my cells, worsening without fail. It cannot be treated or stopped, and there is no cure. My doctors tell me to try a few vitamins, but remind me that they aren't proven to work. It's all they can do, and they are kind, but they are there solely to manage my pain. They are not there to treat me or cure me.

We are equally helpless in the face of cells that simply do not work as they should. There is nothing to fight, nothing to battle -- just broken genes in a broken body.

While my muscle biopsy showed evidence of mitochondrial disease, it didn't provide a genetic culprit. With so many family members who could potentially be impacted, it would be crazy to subject them all to muscle biopsies. Had we run the genome, and found the gene, we could've easily tested my entire family for a single gene. Instead, we don't know which gene is causing our symptoms, or even which of my children may have inherited it. And, without a genetic cause, I am left without any hint of my own prognosis.

Different forms of mito have different prognoses, you see. Now, instead of the excess of information that my geneticist feared, we are left with nothing but a question mark. Mito, it turns out, wasn't the answer. It was simply the beginning of the answer.

It's been 18 months since I was diagnosed. I have raged. I have bargained. I have denied. I have accepted. And I have swung from one stage to another and back again, repeatedly. I have traveled more and saved less and made my choices for today, because I know that my tomorrow will look very different. I have begun to learn to live my life with an expiration date, instead of a vast expanse of possibilities.

I have often wondered what the point is of all of this. I do not believe in God, or an afterlife. I do not know why we are here, but I don't think that there is any intrinsic value in suffering. I haven't always been disabled. I remember what it was like to dance and run and ride a camel in Egypt and climb the stairs of Santorini, and even to walk through the grocery store without having to rest or use a wheelchair. I remember what it was like to work a job I loved and excelled at, and to carry my children up the stairs to bed at night. I remember what it was like to be, if not healthy, at least less unhealthy.

And I do not know why that was taken from me at 33 years old. I can tell you about my mitochondria, but what I do not know is why this had to happen to me, and my family, and god forbid some of my children. I know the science, but I do not understand the humanity.

Some of my kids are teenagers now. They aren't very interested in my various ailments, but they all have an opinion about whether they want to know their own genetic fate. One, like my geneticist, says that it's too overwhelming. She doesn't want to know whether she will end up like me.

She lives with me, and she sees the side of my health that no one else does. She knows, as well as anyone else can, what my brand of mitochondrial disease entails and she wants nothing to do with it. She will go to Australia when she is 18, she says, and learn to surf. She will travel and experience the world, and she will not look for her fate in her DNA.

I sometimes wonder if I would've been better off following her approach. Would I be happier if I still didn't know what was wrong with me? Would ignorance be bliss? It's a tempting idea, but I know that my health problems would have found me wherever I tried to hide.

Without my mito diagnosis, I would still be spending half of my life at the doctor searching for answers. I would still be battling to be heard and acknowledged. While this diagnosis hasn't brought me peace, it has brought closure to my diagnostic quest. And, besides, even if I didn't know that I had mitochondrial disease, I wouldn't be surfing in Australia. I would be living the life that my genes have left me with, whether I knew enough to blame them or not.

I am glad, though, that there was a time when I assumed that I would work until standard retirement age. When I imagined myself an old woman, living in a tiny apartment in Paris, bustling about buying baguettes and fromage for dinner. When I imagined visiting my grandchildren, and maybe even my great grandchildren, and holding them high in the air, bouncing them as they laughed. I am glad that I rode that camel in Egypt and climbed those stairs in Santorini while I still could. And, I am even glad that I know that I might as well drink that Diet Coke and color my hair red because mito will get me long before cancer ever will.

By the time my children are my age, whole genome testing will probably be routine. Perhaps there will even be treatments for mitochondrial disease. There is hope for the future, but probably not for me. My body has been ravaged by this disease, and there will not be a happy ending. I will continue to get worse, organs and systems will fail, and eventually I will die. Slowly, painfully, and without treatment.

But, today, I will cinch my knee brace tighter, to keep my knee in place. I will drink my Gatorade, to replenish the electrolytes my kidneys continuously dump. And, I will live hour by hour, moment by moment, with as much joy as I can muster, simply because it is the only way that I know how to live this life, with its expiration date and its broken genes and its broken promises.

I will choose to focus on the good because the bad is simply too much to bare. And, when I cannot keep going, and the pain is too great, I will be kind to myself, and forgive myself, and go to bed, and try again another day.