A discussion about mitochondrial disease

For those of you that don't know or have avoided my obsessive rambling on the subject. Me and a group of 25 others will be attempting to break 6 Guinness world records on treadmills on May 27-28 at the Calgary Marathon Race Expo (in the Big Four building in Calgary, Canada). Myself, I will be running for 24 long hours and attempting to cover 260km and breaking 2 Guinness World Records along the way for the furthest distance run in 12 and 24 hours. Why would you do something so stupidly ridiculous you may ask? Well, simply, because I can. 

The human body is meant to move and use energy to propel itself for lengthy periods of time; that is if the body is functioning properly. So what happens when the body doesn't function well even at the cellular level? The most fundamental element of cellular function is found in these wee little things called mitochondria. Mitochondria are the power plants of the cell that produce, store and transport energy as needed to allow the cell to perform its regular function. When the mitochondria doesn't do its job, the cells lack function, and at times will fail, which can result in a significant impact on our bodies major organs due to energy deprivation. A common phrase used when discussing this disease is "Running on empty”. There are minimal treatments and therapies for mitochondrial disease and no cure. Ironically, exercise is the best proven therapy for this disease. When you exercise, you produce more mitochondria in each cell and significantly improve the mitochondrial function.

To produce the energy my body needs to run well for 24 hours, my cellular function will need to be close to flawless. Through methods of tireless training and smart fuelling I believe this stretch goal is attainable for me. 

For many who are affected by mitochondrial disease this feat would be impossible and even day-to-day function is a constant uphill battle. One of many impacted by this disease is Marsha Crossman from Regina, SK. Most see photos of Evan Penny and believe that mitochondrial disease is a children's disease, but that is not the case. Mitochondrial disease affects approximately 1 in 4,000 all ages, genders and races and carry a broad range of symptoms from lacking energy in day-to-day function to life threatening ailments due to major organ impact. Unfortunately due to the complexity of the disease, it is estimated that less than 10% of the people who have the disease are diagnosed. I asked Marsha to share her journey and story with us to better understand the reaches of this disease.

Q: Hi Marsha, can you tell me a bit about yourself?

Now 36 years old, I am proud to be Saskatchewan born and raised. Having lived in various small towns across the Province, I now call Regina home.  I have a great job, fun friends, and lots of hobbies.   I live with my super amazing hubby Jon and my step- daughter Jessalyn.  We are a very active family, involved in a quite a few local groups.  I enjoy nature, I love adventures, and I am an animal lover.  I likely have hundreds of photos on my cell of either my dog, or dogs that I have fostered.  In the past year I have become involved with MitoCanada, fundraising and bringing awareness to this great charity.

Q: When were you diagnosed with mitochondrial disease and can you tell us how that came about?

In a regular physical in the fall of 2014, my doctor checked off “CK” on a lab bloodwork requisition.  I had never had this blood test before, and I am really not sure why my doctor requested my CK levels be tested.  CK (Creatine Kinase) is enzyme your muscle secretes when there is severe muscle damage. CK can be found in the mitochondria. A normal range of CK, according to my doctor, is 35-139.  My first reading was 50,000.  I was called back to the doctor and questioned on if I was in any pain (specifically kidney and heart).  I said no, I feel how I always have. My “normal”.  My reading was requested again, and it came back with a CK level of 42,000.  I was referred to a local specialist (rheumatologist) who I met with several times.  He tested my CK levels once a week, slowly reducing exercise weekly until the final week where I had done absolutely no exercise.   My lowest reading was 1100 – still alarmingly high.

This specialist referred me to another doctor in Regina who did an EMG. An Electromyography is a diagnostic procedure to assess the health of muscles and the nerve cells that control them (motor neurons). Motor neurons transmit electrical signals that cause muscles to contract. This doctor was the first to record that I had a muscle disease.  I was then referred to the Calgary Neuromuscular Clinic. In April of 2015, I attended the clinic once for an assessment (had another EMG) and all sorts of other assessments.  A muscle biopsy was scheduled for May of 2015 along with an ischemic forearm test.    You have an IV in your arm and squeeze an object and they take blood at 5 min, 10 min and 20 min (approx.).    The muscle biopsy was a sample of muscle taken from my left quadriceps.  It required several stitches to multiple layers of skin, and fascia.

While waiting for the results of my muscle biopsy, I had an ultrasound on my heart, and an ECG electrocardiogram – measures the electrical activity of your heart done.  Both were normal.  I suspect these types of tests were done due to the fact that the heart is a muscle, and given that CK levels are high in victims of heart attacks, this was done to eliminate heart problems.

In June of 2015 I received a call from the Calgary Neuromuscular Clinic advising me that my sample showed “red ragged fibers”. When treated with a dye that stains mitochondria red, muscles affected by mitochondrial disease often show ragged red fibers — muscle cells (fibers) that have excessive mitochondria. At this time, the doctor diagnosed me with McArdle’s disease.   He also advised me I had a mitochondrial myopathy and was therefore referring me to a specialist whose focus is on metabolic and mitochondrial issues. 

McArdle’s disease is described as:

McArdle’s Disease is a rare, inherited condition that causes severe muscle pain and cramping. It is caused by the inability to produce an enzyme known as myophosphorylase, which is needed to break down glycogen. Without the enzyme, glycogen can’t be used to produce energy during exercise. Exercising through the pain can trigger severe muscle spasms or contractures, and leads to muscle damage. People with McArdle’s disease develop severe muscle cramps and fatigue in the first few minute of activity.  Muscle weakness and stiffness are also experienced.  The disease affects skeletal muscles.  It is not life threatening, rather is just takes learning how to adjust to it. 

With the two new diagnosis, I met with the next specialist and went through a few other tests, including a “jump test” and a process called Next Generation DNA sequencing.

In my case, my mitochondria dysfunction because of my body’s lack of ability to get energy to my muscles.  As I understand it, my mitochondria are overwhelmed and stressed due to not being able to serve their purpose, and that is to produce energy, in my case, to my muscles.

Mitochondrial dysfunction is a secondary diagnosis to my primary diagnoses, McArdle’s disease.

Q: How does your mitochondrial disease affect your day to day life? (This is a good time to continue on and share a story about daily struggles)

Some days  I have no energy, literally. 

One big impact this has had on me recently is that I was denied health crisis insurance.  This was a big reality check for me. 

I am told not do any weight training or anaerobic training including lifting and pushing.  It’s recommended that patients with McArdle’s disease do light aerobic exercise.  That sucks, because I want to do more.

I can’t do relatively “simple” tasks that require immediate muscle use like opening jars, carrying my stepper to my station in my fitness class, carrying heavier groceries, lifting anything heavy.  When I do, I get severe painful cramping and my muscles “seize up.” When I get off an airplane, I can start to feel the symptoms of McArdles in my legs before I get to the luggage pick up.

Most frustrating for me is when it comes to exercise.  There are some days I can go out and run with no issue after my body finds it’s “second wind”, and other days I can’t even run one lap around a track.   I would love to be able to run with a group as opposed to usually on my own at an unpredictable pace, depending on the day.  I live a healthy lifestyle, and I find it frustrating at times not to feel the benefits of all the exercise I do.

I now have to get bloodwork every three months to monitor my CK, kidneys and liver.

Q: I hear you have a tremendous support system. Who are these people?

I do!  I come from a very close family, who has always been a great support. Having been told that this is a rare autosomal recessive disease, this surprised all of us given we are all in “good health”. To have McArdle’s disease, both of my parents have to be carriers of the genetic mutation.  There is no known history in my family of this disease, which means they must be carriers only.

My hubby Jon has been the biggest support to me.  He helps me in so many ways – too many to list. He keeps me motivated to be active and understands the times I am just not able to be active.  He has been part of every step with all the medical stuff that has taken up a lot of our time.  Lots of conversations, lots of making fun of ourselves, and all the time and effort he has put into MitoCanada events, in support of me.  Jon is an ultra-runner, so I rarely get to run with him. But last November he surprised me with a trip to Vegas where he and I could run the Rock N Roll half marathon together (of course, at my pace).  That was a very special run for me.

My friends have been incredibly supportive as well – in particular Jen Ruland.  Jen has taken the time to take part in things that are very important to me.  Whether it be exercise, or her help with MitoCanada events.  She is very inspiring.

My fitness class friends and the marathon matters running club have also been very supportive.  They keep me motivated!!

Q: Speaking of motivational people, I hear you are running your first 50K soon. How is this possible? Tell us more!

Honestly, I don’t know if it is possible – but I am going to try just to see if I can do it.  It will be more of a walk/run trail race, but I am going to just go out there and enjoy no matter how long it takes me.  Of course, I consulted with the specialist I see in Calgary.  It will be bit of a test in that I am working on my threshold of what my exercise limit may be. There are certainly things I have to be mindful of and I won’t know how I feel until the day of.  Like any other runner, the run will be balancing act of proper warm up, nutrition, and energy.

 I hope that perhaps someone can be inspired that they can do the same as me, even if they are struggling with their own type of health issue.  I am very lucky to have the ABILITY to move, so I want to take advantage of that!  I am no doctor, but I believe that at this point in my life, I need to keep my muscles moving.

Running 50km will be hard on my muscles and my mitochondria but I am looking forward to the challenge.  My training consists of a weekly run, spin class, HIIT classes, boot camp, and walking.
Q: Any words of wisdom to the rest of us that tend to take our mitochondrial health for granted?

Try not to take your mito health for granted.  It seems like the body can be a scientific puzzle at times, and things can go wrong when you aren’t ready for it – so use your healthy mitochondrial  in a meaningful way J

I would absolutely love to be able to keep up with my running friends.   If I could, I would run and the time, but I just can’t.  So for those that do have the ability, use it, and be grateful for that.