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.
Doing Pilates is damn humbling. I'm now four long weeks into my Pilates workout program and I am seeing improvement, yet whenever I begin to think that I've got this Pilates thing pegged Shalene dials it up a notch making me question our friendship. Shalene has been oddly patient with me these past four weeks. In between the homicidal stares and the mumbled curse words she has calmly guided me in and out of movements and positions that shake me to my core (literally).
