I wrote in January about the possibility that I would be diagnosed with Myasthenia Gravis. A neurologist in my home town had run a test that seemed to indicate a problem with the neuromuscular junction, which would explain the weakness and fatigue that I had been struggling with for about a year. My neurologist wanted me to see a neuromuscular specialist at a major teaching hospital about 3 hours away for more definitive testing, but that doctor couldn't see me until April. Being impatient, I found a doctor about 5 hours away who could see me in January, hoping I could get some treatment sooner. I haven't updated since, for fear that I sound like a hypochondriac with my constant health talk, but some of you have asked, so here's the update.
The January appointment with Dr. K was a huge disappointment. Dr. K decided before he even walked in the room that I was a hypochondriac. He subjected me to more psychological questions such as, "Why are you so worried about your health?" than questions related to my physical symptoms. He questioned everything I said, even going so far as to question whether my children really had celiac disease, until I told him that they had been diagnosed via intestinal biopsy at a children's hospital. He told me my neurologist had screwed up the tests and the results weren't reliable. He gave me a half-hearted exam that never properly tested the fatiguability of my muscles and then pronounced that I was suffering from stress and needed to take it easy for awhile.
Unfortunately, at that moment I was more shocked and disappointed than livid, and all I wanted to do was leave that office as quickly as possible, knowing that if I got overly emotional it would only confirm in his mind that I was over-stressed. Two hours later I was livid, and I remained livid for the next few weeks.
But my only real option was to wait patiently until my next appointment with the neuromuscular specialist I had been originally referred to, which was in April. I tried to will myself healthy again. I pushed myself to keep up with the chores, even when my arms felt like lead. I pushed myself to get out and get active, hoping it would make the weakness go away. But, no matter how I tried, I could not will my neck to support my head while I was driving. I tried and tried again, coaching myself, "Come on, Kathy, you can hold your neck up for a three minute drive to the store!" But I couldn't. It would tire and ache as if a hundred-pound weight were on it, then finally cave back against the headrest.
So I tried to rest, and I tried to remain active, and I used a neck pillow to prop my head up in the car, and sometimes at home, and I waited for April. I stayed off the internet, tried not to think about it, and waited. I had a couple weeks of feeling slightly better in early March (hence the burst of energy to replace my kitchen sink), but then slipped back down when I had a big week of activity and never really recovered.
The first week of April I had to take Naomi for a two-day trip to the children's hospital. I told myself I could make the 7 hour round trip, since the drive was split between two days, as long as I got plenty of sleep beforehand. That was a really dumb mistake. The drive there was far more challenging than I had expected. My arms got heavier and heavier. Lifting them up to hold the steering wheel felt like the final push for that last rep in a set of fifty dumb-bell curls. I could move them, but the effort it took was incredible. I lay one arm in my lap at all times, and drove with the other hand at the bottom of the wheel, switching periodically. Then my legs got heavy. I couldn't maintain the pressure needed on the gas peddle and had to use cruise control to regulate my speed for most of the drive. I used my left foot to brake a few times because my right leg felt so heavy.
The second day of our trip was far worse. We went to a children's museum in the morning, which was absolutely wonderful, but took it's toll by the time of the doctor's appointment. I began to feel weaker and weaker and had a headache. After the appointment, as we made our way through the hospital halls I began to feel nauseous, my head pounded, I tripped over my own foot once, broke a sweat, and thought I was going to pass out right there in the hall. I was thinking over and over, "Just make it to the van and you can rest." When I finally sat down in the driver's seat of the van I felt a familiar tightening and twisting in my brain--a migraine headache. I didn't know what to do: I was trapped over three hours from home. I decided just to make a run for it and see how far I could get out of the city, then I would pull over and get a hotel room if I needed to, but I just wanted out of the city. I don't remember much of that drive, other than I was in intense pain and was probably not very safe driving, but about two hours later the migraine lifted and the relative rest of sitting in the van had renewed my strength enough to make it all the way home. I vowed not to attempt that again.
Finally, last week, came my long-anticipated appointment with the neuromuscular specialist. Matt took the day off of work to drive me there. This lady doctor, Dr. B, was a night and day difference from Dr. K. She listened respectfully, took my symptoms seriously, and is testing me thoroughly. She never once asked me how much stress was in my life or why I was worried about my health. She ran a huge panel of blood tests and I will return on May 9th for further nerve and muscle tests. She is looking for signs of muscular dystrophies, myopathies, myasthenias, and metabolic abnormalities. I couldn't have been more thrilled with this doctor. I know that if modern medicine has the ability to detect my problem, this doctor will find it and help me.
Three days after my appointment Dr. B e-mailed me to say that my levels of Coenzyme Q10 were low, and that she wanted me to start on this supplement right away. If I understand it correctly, Coenzyme Q10 is necessary in nearly every cell of our bodies for the production of ATP, the energy source of cells. Without sufficient CoQ10 muscle cells may not be able to produce enough energy to respond properly. My level was well below the bottom of the reference range and only 31% of the average level found in healthy adults. The doctor believes this could be the reason for my muscle weakness and fatigue. We are still waiting on many more in-depth tests to come back which will tell us more about how my cells are producing energy and whether there is more to the picture than a simple deficiency.
We do not know why my CoQ10 levels are low. I eat a healthy, varied diet with few processed foods. My diet is rich in meat, eggs, and other foods high in CoQ10, but even if it wasn't, most of the CoQ10 in a body does not come from diet, the body is supposed to produce sufficient levels on its own. It's possible the problem could be a deeper genetic or mitochondrial disfunction that impairs my body's ability to produce CoQ10. Further testing is needed to sort that all out.
In the meantime, I have been taking a fairly high dose of CoQ10 (200mg, 2x/day) per Dr. B's instructions, and my levels will be tested again in a few months. I can't tell an ounce of difference in one week's time, but I guess it can take months to raise a body's levels of CoQ10, so I will have to be patient. I am happy to feel like we at least have something to go on now, some idea of what is wrong and how to help it.
On another note if I did have a genetic mutation that impaired production of CoQ10 (called Primary Coenzyme Q10 Deficiency, which sometimes manifests as muscle weakness in adults) this could have been passed on to my children. There are several case reports of children with Primary CoQ10 Deficiency who have presented with polycystic kidneys and neurological abnormalities. Since we still don't know what mutation plagues our children, this is an interesting possibility to me, especially since it could be treated with a simple supplement. I know I am getting ahead of myself here, we really don't know why my levels are low, but it makes me wonder.
All that to say, I think I have finally found real help, and am getting closer to some treatment that holds the promise of helping me feel human again, which is a very hopeful prospect. We shall see.