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.

Mixed PICCkles

Today, after almost a year of having it in, my PICC line (which I have dubbed picckle; this is probably less hilarious than I think it is) was pulled out of my arm.

I have mixed feelings about this turn of events.  I am very, very glad to no longer be living with the risk posed by having a foreign body in a major blood vessel (line infection, blood clot).  I am happy to no longer have to shower with my arm covered in saran wrap.  I am happy to have my arm back.  I am scared shitless.  While it’s true that I haven’t been on TPN for a number of months, my body will now be riding without training wheels, so to speak, when it comes to eating.  And that makes me nervous, especially since my stomach has been behaving in a less-than-stellar manner these past few weeks.

This was the first time I’ve had a PICC line, and my first time I was on TPN, but it almost certainly won’t be the last.  In fact, my care team has already discussed long-term central line options.  For now, though, I am concentrating on how it feels to be without the line, as temporary as it may be, and re-acquainting myself with the inside of my left arm, a place I haven’t been able to touch for almost a year.

Even though there is something palpably missing, I feel whole.

My broken stomach, my broken heart

Right now I'm trying really hard not to think about my superior vena cava.

Clearly, I'm not doing a very good job.  I don't usually spend time thinking about my superior vena cava (or trying not to), but at the moment, I can't seem to forget about its existence.

Why?  Because, at this moment there's been something in there, the tip of a peripheral intravenous central catheter (or PICC) line.

Why can't I forget about my superior vena cava?  Because, at this moment, for the past two weeks, there's been something in there, the tip of a peripheral intravenous central catheter (or PICC) line.

It has been two weeks since I have been on total parenteral nutrition, or TPN.  For those of you who don't speak medical jargon, that means that I have been receiving most of my nutrients through the PICC line.  Every evening I carefully hook a bag of white liquid up to a pump and some tubing, which I then carefully and, trying to be as clean and precise, trying to maintain as much sterility, as possible, I hook up to my PICC line.  This is what will be feeding me, what will be keeping me alive for the next 2-6 months while my gut will (hopefully) rest and reset itself.

I've barely been ingesting anything by mouth at all--what I do take in is mostly clear liquids.  There've been a few crackers here and there, some soup with rice in it, but mostly it's tea, juice, and broth.  (And the requisite pills.)

This is my first time on TPN, and it is almost certainly not going to be the last.  To be honest, I feel lucky I've made it this long without it.  Most people with GI motility disorders who have mito have to go on it at some point in their lives.  Many children with mito are put on TPN soon after they are born, never able to drink their mother's milk or eat normally.

I'm finding it an incredibly relieving, if somewhat heartbreaking experience.  I've only thrown up once since being discharged from the hospital--previously, it was nearly every day--as I no longer have to try and force myself to eat enough food to sustain myself, which my body physically cannot handle.  I've been in far less pain and I've been much more energized.  I've grown accustomed to the quiet whirr-whirr-click of the pump as I lie in bed at night.  At times, I almost find it comforting, a confirmation that even if my body parts can no longer do their job, medicine can pick up the slack, and my body can be sustained through science.

And now we come to the heartbreak.  Not only do I miss the social and pleasurable aspects of eating, but I'm finding myself mourning for my lost ability.  Losing my functions is nothing new for me.  I've been slowly degenerating since the age of seventeen, losing one organ after another.  There is something so essential, so primal about hunger, about the urge to eat, that I'm finding the loss of ability is difficult to deal with.  The plan is for this to be temporary, short-term (up to six months) but it very well may be permanent.  There's more grief here than there's ever been anywhere else.

But despite all that, I'm managing to stay fairly positive.  I feel hope for the future, whatever it may hold.  And I'm trying to find up sides to the situation.  For instance, I’ve found that when life gives you PICC lines, get cute PICC covers to shield them. 

 I'm getting used to the routine of setting up the TPN and taking care of the line, and it's no longer a source of immediate fear for me.  But not all of the aspects of TPN are getting easier.

Today I had my dressing changed.  Until the PICC line is removed, my Home Infusion Therapy (or "hit") nurse will come to my house once a week to take my vitals and bloodwork, ask about my progress, and change the dressing.  Changing the dressing is a terrifying experience for me.  While I've grown moderately comfortable with the line--when I can stop thinking about my superior vena cava, that is--I cannot overcome my feelings of defenselessness.  Each time I find myself sitting with my arm crooked in an unnatural position while my masked nurse intently wields adhesive and antiseptic on the opening of my vein, I find it difficult not to tremble.  I am completely exposed, at my most vulnerable, my heart laid open to any assault by microscopic invaders, my soul laid bare for anyone to perceive my weakness.

I hold my breath and look away.  It feels as if the change is taking forever, but soon she is finished, taping up the site and replacing the lumen extensions.  She takes my blood and, unusually, I feel it coming out of my vein.  The catheter is long and I am small, so there's a good 27 cm that the surgeon left outside of me.  The freshly-scrubbed skin that the line is taped against feels cold, and so as the blood rushes out of my vein and into the catheter, I feel the warmth of it against my skin, reminding me of its purpose, to sustain life, my life--a purpose which will it will no longer be able to fulfill.  How different the blood feels, leaving my veins, than the chilly mixture of proteins, sugars, and fats that I have to hook up to every night and yet their function remains the same: to keep me alive, and healthy.

A Day in the Life

You wake up.  You're so tired.  You look at the clock.  You got eight hours of sleep, and yet you don't feel remotely well-rested.  You manage to get out of bed enough to swallow the pill you need to stop being fatigued.  That's all you have energy for.  You get back into bed. Now is when the abdominal cramps start.  They wrack your entire upper body with pain and you wriggle around in your bed, searching for a position that offers some relief.

You really don't feel like doing anything that might make the abdominal pain worse, but you know you have to swallow the four other pills you take in the morning, so you choke them down with some water.  Your stomach lurches as you try to hold them down and so you take an anti-nausea pill.  It works well enough to keep down the pills, but not well enough to banish the last lingering trace of nausea from your throat.

It's been about an hour, and your anti-fatigue meds are starting to kick in.  Thank goodness, because it's past time for you to get your day started, which you are finally able to do, but only just.

You get out of bed and stretch your aching muscles, then take a shower.  The hot water helps soothe them somewhat, but not the abdominal cramps, which make you squirm and twist in pain.  You instinctively bend over and crouch down under the water, protecting your painful insides.  You look at your toes and count them, trying to focus on something other than the pain.  The pain translates itself into nausea as your intestine rejects the water you just drank and pushes it backwards into your stomach, which starts to heave. You throw up remnants of pills, stomach acid, and bile.  Water runs down your face.  Maybe you’re crying, or it’s just from the shower.  Maybe both.  You need to get up.  You eventually make it out of the shower and you get dressed and ready to go.

Now you're running late.  Shouldn't have spent so much time in agony, curled in a ball on the floor of the shower, crying.  You manage to catch a bus, just barely.  Having breakfast is out of the question- you don't have time.  It's just as well; you don't really feel like putting anything in your writhing, painful insides.

The anti-fatigue medication has kicked in the rest of the way, but you're still tired.  Your head feels fuzzy.  And so does your tongue.  You have an oral thrush infection again.  That's an extra five pills to take today.  If only the fuzzy-headedness was so easily taken care of.  Sitting in class, it's hard to pay attention, even though it's your favorite subject.  You're just so tired.  Your left arm starts twitching in class and you pray it's not the beginning of a seizure.  You've already had one this week, and you can't afford to miss any more class because your consciousness is shattered, your brain overrun by faulty electrical signals.  To your relief, the twitching stops.  No electrical storm today.

You get an email from your department, talking about an exciting internship opportunity next fall in Moorea, the research station on a tropical island at your university.  You’d love to go.  You know you can’t.  There aren’t medical facilities equipped to deal with you there.  No point in applying.  You have to save your resources for the important thing- finishing school.  It’s taken this long--it’ll be nine years by the time you’ll be done.  You don’t want it to take any longer.

After class, it's time to study.  As you pull out your books, you feel anxious and just a hint of panic--you’re behind in your studies.  You have to catch up on all that stuff that you didn't understand last week because you actually did have a seizure halfway through class.  You're having even more trouble concentrating.  Why is that?  Oh, right, it's nearly 1 PM and it's been more than twelve hours since you've eaten anything.  You must be running on empty.  You really don't want to put anything in that sluggish gut of yours, but you know you have to if you want to be at all productive today.  So you start out slow, with a smoothie.  The first sip goes down okay.  Now you feel full.  Drinking the entire thing seems daunting.  You make yourself do it anyway, because you know you have to.  You feel accomplished when you're done, but now the real task has started--keeping it down.

Now you have to go to the pharmacy.  You've got some prescriptions to pick up.  They were called in last week, even so, they're not ready yet, so you wait, worrying about the stuff you have to do.  You wistfully think to yourself about the half an hour you're losing here, and how that time might be better spent.  You think about the internship, but push it out of your mind.  It’s not an option for you.  There’s no point in wishing for things you can’t have.

It's time for your second class and your intestine is starting to hurt, badly, from that smoothie.  You've been trying to stay hydrated--it's important to, to prevent kidney stones.  You don't want any more of those.  Drinking enough water is difficult since your sensitive stomach wants to reject whatever's inside if it feels too full.  But now the water and the smoothie are just too much for your body to handle and your intestine screams at you, writhing and twisting, trying so hard, but unable, to do what it was meant to.  You try to combat the pain, you try to breathe deeply and slowly, you try to focus on the techniques your professor is talking about, but the pain starts to blind you.  Your head goes light and your vision dark.  You can't take much more of it.  You swallow a painkiller (which you don't like to take, because they also make your head feel thick and your mind slow and stupid, but what choice do you have?) and bite your lip to keep from screaming.  You run out of class, ten minutes before it's over, ashamed at what your peers might think, but the pain outweighs the shame.  You run into the bathroom, where you collapse on the toilet, put your head in your hands and focus your entire being on getting through the pain.  You stay there for an hour, waiting for the painkiller to kick in and for the pain to dissipate. 

You missed a phone call while you were in the bathroom.  You check your voicemail.  There’s a message--it’s from your pharmacy--the other pharmacy, the specialty one. It’s a mail-order pharmacy.  You wish you could just use your local pharmacy, but this medication is so rarely prescribed that few people have heard of it, even the “Customer Care Advocates” at the pharmacy.  You listen to the message and sigh.  It’s a pre-recorded message saying there was a problem with your order--like there is almost every month--and that you need to call them back right away.  You call back, and after navigating a maze of phone options, are finally directed to a “Customer Care Advocate” who promptly puts you on hold for five minutes. When she finally gets back to you, she tells you that there is some unidentifiable “issue” with your insurance or your prescription and that they need to get clarification from your doctor.  Which means, you need to call your doctor, and tell them there’s a problem, because the “Customer Care Advocate” won’t do it for you.  You feel neither cared nor advocated for.  You call your doctor and undergo a very similar process--navigating options, put on hold, transferred.  Eventually, you are directed to the nurse’s line, which goes to voice mail.  You leave a message detailing the problem.  At this point, it’s out of your hands and you can only hope that they will straighten it out for you--but you’ll call back tomorrow to confirm, anyway.  If they don’t get it figured out in time, you’ll miss a dose of the only medication that keeps your intestine doing the small amount of work that it does. You hate to think about how much more pain missing a dose would mean, but it’s not good to dwell on the what-ifs.  For now, you can only hope that tomorrow the problem will be resolved.

Dinner time rolls around and your body cries out that it needs something substantial--protein, carbohydrates, something to make up for all of that energy lost to studying, eating, and walking around with your too-full backpack.  Your friend asks if you want to get dinner together, and you wonder if your body could handle some thick soup.  It might, even though your intestine is still hurting a little from earlier and your chest is in agony from esophageal spasms.  You decide to try it, but you take half of a painkiller nonetheless.  You have a study group after this and you need to weigh in your head if you'd rather be sleepy from medication or in  pain.  You choose the medication.

In your study group, your mind wanders.  "Did I take all my pills today?  (Yes.)  Did I schedule that doctor's appointment? (No.)  Did I get enough calories? (Probably not.)"  You try to focus--you have a test in two days and you want to do well.

You get home exhausted.  There are chores to do, but you just can't seem to bring yourself to do them.  You're just so tired.  Maybe tomorrow you will have the energy.  (That's what you tell yourself, a white lie to hold off despair.)  You can put off most chores, but there are things that must be done.    You have to take your evening pills (five) and take your evening injection, the one that prevents your intestine from being completely non-functional.  You swab your arm with alcohol and don't bat an eye as you jab the needle into your skin.  You've given yourself this injection (nearly) every night for the past four years, and it's become completely routine.  You forget sometimes that there are people who live lives that don't include nightly injections or the possibility of eating without fear of pain.

Your day is over.  You made it.  It's been hard, but not much different than any other day.  You start to drift off to sleep, knowing that you will soon have to face another day, following a similar routine.  You think about your midterm next week, and hope that things will be a little by then.   Your mind, drowsy and hazy, wanders toward the future, something you usually try not to think about, the possibilities frightening. You think about next year, when you will hopefully have finished school. You hope to get a job in your field, but you don’t know if you’ll be physically capable of working full-time.  You think about ten years from now, a far off future that seems completely foreign and uncertain. What will your day be like then, how will you live your life?  Considering your rate of decline over the past five years, you’ll almost certainly be sicker. Maybe your gut will have failed completely by then. Will you be able to eat anything at all? Will your seizures be under control? Will they get worse?  Will you have some new problem to deal with, your body slowly falling apart, piece by piece? Will you even be alive in ten years?  Or, will there be better treatments available, more options for you than just holding off pain?  Will the rate of medical advancement overtake the rate of your decline?  You can only hope and, for now, get through another day. Wavering between hope and doubt, you finally succumb to sleep.

Mitochondrial disease (or Mito) is estimated to effect one out of every 2000 children born in the United States.  My life may seem difficult, but I am one of the lucky ones.  Those who are diagnosed under the age of two are unlikely to reach their fifth birthday.  Mito has irreparably damaged my brain, kidneys, nervous system, and gastrointestinal tract, but it can affect almost any organ in the body, and there are few treatments available.  This type of disease is poorly understood by all but the most specialized medical professionals. Help raise awareness and money for a cure by joining me on April 14th for the United Mitochondrial Disease Foundation’s Energy Walk for Life. 

Mito Awareness

This week is mitochondrial disease awareness week.  I didn't realize until yesterday.  It's almost over and I didn't take the time to do anything to raise awareness.  I looked at the UMDF's website.  They have lots of ideas to raise awareness, none of which appeal to me--probably because they are all designed to promote awareness, to educate.  And I think "I do that anyways."  But mostly, I think "I don't want to have to do these things."

Because they sound like they would require a lot of energy.  And energy is something that I simply don't have enough of.

I have mitochondrial disease.

I've always liked mitochondria--they're my favorite organelles.  They're the parts of the cell that make energy.  Mitochondrial dysfunction results in cells not being able to produce enough energy, which eventually leads to cell death.  This can cause organ damage, causing disease in multiple organ systems.  So far, I am affected in my kidneys, nervous system, GI tract, and brain.

There is no cure for mitochondrial disease.

There are few treatments available.

I wanted to write something for mito awareness.  I wanted to write something poignant, to inspire you to educate yourself, to reach out to you and try and help you understand a little bit of what it's like to have mitochondrial disease.   But I'm not terribly eloquent at the moment due to the very strong pain medications because of my kidney stone.

I've devoted much of this week trying to figure out what kind of anti-seizure drug I can take that will allow me to remain alert and awake so I can go to class.  I spent all morning throwing up because my stomach isn't working.  I’m thinking about medication time-frames because I have a new drug that needs  a 2 hour window between taking it and the 12 other medications I have to take today.

I want to talk to you about mitochondrial disease.  I want to educate you.  I want to open up and show you my heartbreak over my broken body.

I want to, but I can’t.

I just don’t have the energy.

Keeping the faith

Yesterday, I had an appointment with my nurse practitioner to discuss the results of the test I mentioned in my last entry.  Unfortunately, the results were not good.  %25 of the time I try to swallow, there is no peristalsis entirely.  (Meaning that I try to swallow and I can't at all.)  %50 of the time I DO manage to swallow, I can't swallow properly.  This is somewhat discouraging news, as it's markedly worse than my results from three years ago.  While it doesn't mean anything immediately other than new medications, it does put the future in perspective.  What will my life be like in five years?  Will I be able to eat solid food?  Will I even be able to eat at all, or will I have rely on tubes for my nutrition?

I try not to think about these things.  It's counterproductive--new technologies emerge every day. There may be better treatment by the time I badly need one.  Furthermore, it's not particularly relevant to my life right now.  After all, I'm currently able to eat pretty well and I'm at a healthy weight.

At times like these, I find it valuable to remember my faith.  Despite being an atheist, I have faith in many things.  I have faith that medicine and technology will continue to advance.  I have faith in the love and support of my friends and family.  But most of all, I have faith in myself.  I have faith that I will be able to keep going, no matter what.  This is not to say I will overcome my health problems and somehow miraculously improve--on the contrary, I am relatively certain I won't.  Rather, I have faith that I will continue to grow, change, and find things that I love even during times of hardship.  And for now, there are many things in my life that bring me joy.  The future may be uncertain, but the present is bright.