Tag Archives: Mitochondrial Myopathy

Scottish Eyebrows meets Downy Body Hair

18 Aug

Miracles happen! I scored an appointment with Dr. N.B a few months after the first paralysis. Dr N.B. was holding a clinic in Boise and was able to squeeze me in. As I said, Dr. N.B. is a rock star mastermind in all things Mitochondrial and this was a blessing to meet him and talk about my issues.

We started off with blood work, piece of cake. By the age of 9 (yep, had a birthday) I could have drawn my blood, of course no one let me until I was 16… Shhh. Then my parents and I sat around a large table in a conference room with Dr. N.B and his female colleague (who holds a Doctorate of Philosophy) the wonderful N.K. The cool thing about Dr. N.B. is he addressed me when talking. He didn’t ask my parents how I felt or what my body was doing, he relied on my information. He let me tell my story and I liked that. We discussed everything from physical ailments to mental struggles as well as my family medical history. As I stated in my previous post my Aunt P was diagnosed by Dr. N.B with Mitochondrial Myopathy (Ragged-Red Fibers is the strain) and this made me predisposed to have a Mitochondrial Myopathy.

A Short Explanation of Mitochondrial Myopathy:

Every body  consists of cells. Every cell contains a mitochondria. The mitochondria is the “power plant” of the cell. It stores and distributes energy when the body requires it. When a myopathy is present the “power plant” malfunctions. It does not store properly or distribute when needed causing the body to use other sources for energy. This causes muscle breakdown and the release of lactic acid. It can also be exhibiting through muscle weakness or exercise intolerance, heart failure or rhythm disturbances, multi-organ failure, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures to name a few things. Symptoms vary from person to person and in severity. Mitochondrial Myopathy is a hereditary disorder passed down through the mother’s bloodline. It is known to skip generations, anyone could be a carrier and the carrier’s don’t always show symptoms.

At the time of this appointment I was exhibiting muscle weakness, exercise intolerance, fatigue, muscle cramping, muscle pain and spasms, migraines, muscle wasting bi-product in urine (lactic acid), and lower extremity paralysis. All those symptoms line up with a Mitochondrial issue except for the paralysis. That’s where Dr N.B. said I was special. He let me know this was just a guess as he was scientifically puzzled, but perhaps the paralysis was my body’s way of protecting other organs. He told me the human body is capable of amazing things, and this isn’t out of the realm of possibilities.

When he told me this I imagined my body and brain being separate from my soul. My brain was intervening to prevent me from pushing forward. My body was guarding my very existence by forcing me to lay still for hours, to allow me to rest and replenish. (Was it my body though? Or was it God? I think it was God using my amazingly crafted body as his tool.)

After the rundown of my symptoms and family history it was time for a physical exam. I put on a hospital gown and walked the length of the exam room. He did the usual strength tests that I failed miserably. He had me stand on one foot, balance, stand on the other, touch my nose while balancing and added in “quack like a duck”! He had a sense of humour too =) Then I got up on the examination table and he began feeling my muscles, examining the knots, feeling the current spasm I was experiencing in my leg and then he started rubbing my arm. I looked at him curiously wondering why he was softly rubbing my arm and staring at it thoughtfully.  Almost like he read my mind he said matter-of-factually, “You have very downy body hair.”, and then went about the exam. …..OK this has stuck with me my whole life. That comment right there. Downy body hair. What, like Sasquatch? I was an 9-year-old girl whose body was failing her and now I had to deal with knowing I have downy body hair? Who says that to a person? HONESTLY!?! Every part of me wanted to tell him right then and there that his eyebrows would put Bert’s to shame. They were so thick and bushy and intentionally twisted upwards at the ends. They peaked out over his glasses, staring at me. With the right wind, they could take flight. Ugh, still to this day I am self-conscious about my arm hair. If people touch my arm I immediately think they will take note of the downy hair and either be repulsed or feel an overwhelming urge to pet me…. Moving on.

The appointment went very well that day (minus acquiring a complex about my downy body hair). We left with a wealth of useful information and a peace in knowing we have a world-renown doctor on our team. It was clear to us that there is no cure for Mitochondrial Myopathy but the prognosis was not dark from my prospective. If this is what I had, I could manage it. The next step was a muscle biopsy to confirm the mutation and an extensive eye exam. A road trip to Portland, OR was in order once we could get past of the red-tape put up by “Idaho’s Poor People Insurance Program”.


No choice, All in.

17 Aug

I really didn’t have a choice at 8 years old. This is my life, the only one I have, and I’m gonna live it. At the time I didn’t really know what all that would entail. I knew I’d always felt weak, I knew my body had issues and that I was different from other kids. But where do I go from here? How am I going to live now, with this, like this?

I awake in bed around 6am to my alarm. I sat up groggy and sleepy-eyed, and swung my legs around the side of the bed… No, wait, they didn’t move. What the…? (Little fact: I wasn’t allowed to say “what the anything” but I sure thought it a lot!) I’m telling my legs to move, maybe they are still asleep. I rubbed them down a little, I can feel them. My brain is shouting for them to move. Why aren’t they moving?

“Momma! Daddy! Something is wrong, I can’t move my legs! L (my older sister currently age 12), go tell mom and dad I cant get out of bed!” Like I said, I really don’t remember crying. I wasn’t in pain, I just couldn’t move. A part of me was worried and scared because this had never happened but, I wasn’t actually surprised. I knew about disabilities, I was a very bright kid. The fact that I’d been so weak ever since I could remember coupled with the pain and muscle protein loss of recent, it almost seemed logical. I was more concerned about missing my test at school than being unable to move my legs.

My parents took me in to see Dr. B that morning. I really loved Dr. B. He was a doctor who genuinely cared for his patients no matter the insurance coverage they carried. I never felt like a “low-income child” when he tended to my needs. He did everything in his power to give me proper care, even if it was more paperwork or having to make extra phone calls. I remember how he looked at me when my dad wheeled me in. And come to think of it, it’s how my parents were looking at me too.  I’m honestly just now remember their faces. Strange how they didn’t translate when I was 8 but now, now I see it and I can’t help but feel a strong emotion. All of their faces read concern, deep concern. They were looking at a beautiful little girl, with a very bright mind and the sharpest wit who very well could be robbed of all her hopes, dreams and aspirations. Their hearts were breaking for me, the worry etched too clearly on their faces and in how they held their bodies and I was completely oblivious.

I’m so grateful I didn’t see their worry. Had I known what was facing me, had seen their worry, or known that I had a cause to be worried, I don’t know that I would have exercised as much strength as I did. I know this is silly, but I didn’t want to worry them. Hahaha, I was being strong FOR THEM. Lol. I’m sorry I am literally laughing  as I type this out. Really though, it’s amazing what children are capable of doing for another person. How they can be strong, how they can persevere and hold to hope blindly.

That day Dr. B recommended I see Dr. N.B. He was the doctor who diagnosed my Aunt P. with Mitochondrial Myopathy, and he might be helpful to us now that I was exhibiting so many symptoms. I’m sure this was no easy feat scoring an appointment with THE BEST DOCTOR IN THE WORLD for Mitochondrial Disorders (No really, google Dr. Neil Buist he’s a rock star). But I had 3 things working for me, 1) Dr. B would do anything for me to get the appointment 2) Dr. N.B. was very much intrigued by an 8-year-old with a possible Mito and last but definitely the most powerful 3) God.

We went home, it had been around 4 hours since I woke with paralyzed legs. And then I felt it. A strange sensation in my toes. Not really a tingling, more of an awareness. Life, I could feel life coming into them. I began focusing like a ninja to wiggle them. Got it! A wiggle! They were coming back it seemed. This made us all happy. Of course, there was still an issue to be addressed but we had the hope of seeing Dr. N.B. soon and now, they are returning! The feeling began to move from my toes up to my knees and then from there up through my legs and into my hips. But as the ability to move returned, pain replaced the paralysis. The most excruciating pain I had ever felt in my entire life. I really don’t know how to explain this pain to you. In my 24 years of life I have never felt anything like it. If someone offered to cut my legs off, I may have taken them up on it. The pain lasted for hours. My parents gave me as much Vicodin as I as they could but it didn’t cut it. I cried now.

This is when I wondered if I could play this hand. Is this pain going to last forever? Are my legs going to do this often? Can I live with this pain and still feel happiness? Why me God?  This is when I realized more would be expected from me in my life than I ever thought.