Wednesday, September 24, 2014

Mitochondrial Disease Awareness Week 2014

Note: I wrote this specifically to post on Facebook. It's not really applicable here, since anyone who reads this blog is already familiar with mito, one assumes. But it's still relevant, so here it is.

Today is the last day of mitochondrial disease (or “mito”) awareness week. I haven’t done anything to raise awareness at all. I feel bad. I didn’t do anything last year either. The year before, I may have posted something on Facebook, or sent out a few emails, but I don’t remember. Both talking about it, and not talking about it, are uncomfortable for me. But today? Today I should do something. I could go for a run, or post a video of myself dumping ice water on my head, but I am going to do something even more uncomfortable and talk about mitochondrial disease, and how it has affected my life.

My illness is something that has been easier or more difficult for me to talk about at various times in my life. Sometimes, it's because I felt ashamed. Other times, I'd get exhausted having to wear the educator hat. And it’s hard to contend with looks of pity or well-meaning people with “miracle cures” when you're simply trying to explain what’s happening in your life.

At first, my doctors thought I was just unlucky. I kept getting new, strange illnesses. After the fifth one of my organs became involved, I knew there must be an underlying cause. It took years to get a diagnosis, and when I was finally learned that I had mito, I was relieved, despite the lack of treatments. As a scientist, I found it comforting to think about all the different levels of dysfunction–the mutation in a gene, leading to a misfolded or truncated protein, leading to the death of an organelle, then a cell, then the failure of an organ, then an entire system. There was a reason for all the diseases I was diagnosed with, and there was a connection between them. I wasn’t horrible unlucky: in fact, I was very lucky indeed.

Although I have been through a lot, I know how lucky I've been. Although there are times when I cannot eat, there are many who suffer from mito who have never been able to do so. Although I suffer from seizures, they are only partial, and I have never had to worry about completely losing consciousness and injuring myself. My liver suffers, but it is so far asymptomatic. My kidneys have a predilection to, from time to time, loudly announce their presence by creating stones, but they have been quiet as of late. My muscles hurt, and I suffer from fatigue, but I can walk, and dance. And although I rely on ten to twenty pills a day, an injection, and a device implanted in my stomach that allows me to eat, I live a fairly normal life.

There are those who are not so lucky. Many of them are children, and it is for them that I am writing this.

I've been taking this medication for six and a half years. By my calculations, that means, I've given myself two-thousand, three hundred and seventy-two injections.

Mitochondria are organelles–parts of the cell that, while dependent on one another, perform their own specific tasks. The mitochondrion is often called “the powerhouse of the cell,” as it is responsible for the creation of ATP, the molecule which cells use to store energy. But while creation of ATP is the foremost process mitochondria are responsible for, they do so much more than just that. They are involved in the process of beta-oxidation, which is also important for energy production. They are involved in calcium storage, which is important for signaling. There are many more tasks that the mitochondria perform, and all of them are essential for life.

Mitochondria are unique among organelles as they have their own DNA and DNA replication machinery. They have their own ribosomes and tRNA, which are molecules that make proteins. The process of making ATP is a complex and intricate one, and with so many molecules involved, there are many places where the process can go awry, causing the cell to end up with a deficit of ATP.

When a cell doesn’t have enough energy to sustain itself, it dies. Sometimes cell death is natural, and when a few cells die, the body can handle it. But enough cells die, and you start having organ problems–dysfunction, pain, sometimes even complete organ failure. Some organs have higher energy needs than others, and these organs are the first to be affected. Usually, people with mito have problems with their brains, hearts, muscles, nervous systems, gastrointestinal tract, and liver.

This is how many pills I take on a good day.

Mitochondrial diseases were once thought to be rare, but it is now believed that one out of every four thousand children born will develop one. This is only slightly rarer than cystic fibrosis, the most common genetic disease, which affects one out of every 3,400 births. And yet few people have heard of diseases that affect the mitochondria. There are no treatments, though some are currently under development. And every day, there people who die from this type of disease. I try not to think about the fact that I could be one of them.

If you have read this far, thank you. But I have a few more favors to ask you. When you feel like donating to charity, consider the United Mitochondrial Disease Foundation, or MitoAction (links). But really, what I want from you today is to know that mitochondrial disease exists, that is can be painful, disabling, and even deadly, that it’s more common than you might think, and that you might even know someone who has it.