I was recently told that people were worried about me. After initial confusion – followed by slight flattery – I realized why: I suck at communication. People only hear when things are bad (because Keith calls) and I fail to communicate that – most days – I’m doing just fine. So here we are. Because I’m not likely going to get any better at communicating regularly (just being honest!) and I do really want to keep everyone informed, I started a new blog. I’m hoping that through this page, I can keep you – my family and friends – updated on our life – the good and the bad. I want you all to realize that most of our life is pretty normal; we work, play, and enjoy life. We might, however, do it a little differently. Also, I’m hoping that, through writing, I can bring some awareness to mitochondrial disease and some of the other issues we face. Please feel free to pass on my writings as part of my goal in this blog is to open a window into living life with a mitochondrial disease – and a smile!
My Friend “Mito”
I have mitochondrial disease. The best I can explain it to the biology-illiterate is that my batteries are running on low. We all have mitochondria – which we inherit from our mothers – in 90% of the cells in our body. Our mitochondria convert food and oxygen into energy. My mitochondria are dysfunctional. That means almost all the cells in my body are trying to function with a bad energy source (or “battery”) so, sometimes, they just don’t.
Mitochondrial disease looks different in everyone. I have quite a few friends with “mito.” It doesn’t affect any two of us in same way. Sure, there’s overlap, but we all have to deal with it differently. Some of us can walk – just not as much as able-bodied people – and some of us use wheelchairs, like me.
Daily Life with Mito
Because mitochondrial disease is an energy metabolism disorder, I sleep more than the average person – my body requires it. Some nights, I can subsist on 8-10 hours of sleep, others I sleep 12 hours or more and may still need a nap. Unfortunately, my body gives me very few warnings about when we’re going to “crash.” This is very common in mito. One day, I may be able to do something that is impossible the next. This makes life unpredictable.
Nutrition is very important with mito. Because the mitochondria can only create energy from the food they receive, I have to be careful that they get the proper nutrition. Unfortunately, it requires energy to create energy. I suffer from gastroparesis – the paralysis of the stomach muscles, which means food doesn’t break down properly and get passed on to my intestines – and chronic intestinal dysmotility – my intestines don’t properly push the food through my intestines. Because the food doesn’t pass through my system properly, I can’t fit any more in my system. In the last year alone, I’ve lost over 40 lbs. With the aid of medications (like zofran) and liquid nutrition (A-Soy), we hope we’ve been able to halt the weight loss.
Daily, I also deal with relatively minor issues like myoclonus (muscle jerks), the inability to regulate my temperature, muscle weakness, hypoglycemia (chronic low blood sugar), hypotension (low blood pressure), and migraines. These issues can cause dizziness, nausea, and vertigo.
Metabolic Stress and Mito
Sometimes, even with every precaution, my body will crash. This is due to metabolic stress. During these times, I develop severe hypoglycemia (blood sugar below 40), hypocalcemia (low calcium), hypokalemia (low potassium), and lactic acidosis (high lactic acid – what’s released in the muscles when you exercise – levels). Because of this, a myriad of serious issues can develop.
Recently, I went into status epilepticus. That means I had a series of seizures – without regaining consciousness – for nearly 20 minutes. This can be dangerous if it cuts off the oxygen from reaching the brain. The precursor to this episode were the above: hypoglycemia, hypocalcemia, hypokalemia, and lactic acidosis.
Metabolic stress can also cause syncope (passing out), dystonia (abnormal posturing and movements), stroke-like episodes (where my left side becomes droopy, numb, and paralyzed), and paralytic episodes (my entire body can’t move). During these times, my blood levels are always imbalanced.
At baseline
A “normal” day, however, is not too different for me. I take my pills (>15/day), I eat (small, more frequent meals low in fiber, fat, and processed sugar – often liquid), and I conquer the world. As the academic life became too demanding on my body and mind (and I wasn’t able to keep up with the frequent hospitalizations and illnesses), I took a leave of absence (hopefully, temporary) and began tutoring children with special needs. Most of my kids are on the autism spectrum and some have additional medical issues as well. I love it and I’m good at it. I feel at home.
I’ve also returned to my greatest passion: helping. I’ve become active within the New England Chapter of the UMDF. Many of you know that Keith and I helped plan the Inaugural Energy for Life Walk this past May. With your help, we raised over $30,000!!! With the UMDF, we also participate in the Community Cares program. We visit kids and adults with mito who are currently inpatient. This is one of True’s greatest loves. She’ll lie on the bed of a child for hours letting them pet her. Additionally, Keith and I helped set up and run a recent blood drive for the Immune Deficiency Foundation. (The children of two of our closest friends rely on blood product to save their lives due to an immune deficiency. Give a pint, save a life!)
Other than that, I keep busy. I try to swim in our friends’ heated, salt-water pool as much as possible. I play board and video games with friends. I do yoga. I babysit for friends. I train True. And I value each good day. Because we don’t know when the next will be.
Hopefully, I’ll be able to keep everyone updated here. To show you that – yes – life isn’t easy for us. To show you that – yes – I do still have good days. And to show you that – yes – I still live life with the same perseverance, laughter, and hope.
Below is a video that explains mito a little more. I personally know many of the families featured in the video.
Video by Amber Greenawalt
Still Miles to Go 
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