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”.