Faith's Story

Multicore Myopathy has affected my life in so many  ways, but, first, let me tell you a little about my background and how I came to be diagnosed with Multicore Myopathy, or MCM, as I call it. It is rather a long and tedious story, and, I will try to make it as brief as possible, but, it is hard to know what to include and what to leave out,  hard to know what is pertinent and what is not, so please bear with me.  I include these facts 'just in case' a member of the medical community doing research may someday read the list and have an "Eureka" moment. 

My date of birth is December 30th, 1950 and I am the second born of seven children. I developed normally as a child. From what I can garner, my motor milestones were not delayed. I may have been a rather "floppy baby", as I'm told I didn't sit up by myself until I was almost ten months old, however, my development was fairly unremarkable, as was my childhood. I had the normal childhood illnesses and normal childhood reactions with the exception that I had a terrible bout with chicken pox as a toddler. I did suffer with dreadful migraines as a child, though, and, lots of cold sores.  The only other unusual illness occurred when I was fourteen and I was hospitalized for over three weeks with an unexplained high fever.  I remember feeling very "battered up", at the time, as if I'd taken a terrible fall.

I have had three full-term pregnancies and two miscarriages. I had a normal full-term pregnancy, labour and delivery with my first child in 1970. She weighed 7 lbs. 4oz.

I had some bleeding throughout my second pregnancy in 1971 but since there is only 13 months between my first two children, I would think that was hardly unexpected.    My labour had to be induced, and, I had a retained placenta, which required I be given general anesthesia just prior to delivery. I had quite a nasty reaction to the anesthesia - fever and rigid muscles - much later it was suggested I possibly had a Malignant Hyperthermic-type of reaction.  My second daughter weighed 6lbs.3oz.

I had a very difficult pregnancy the third time around in 1975.  I developed severe allergic reactions with lots of hives and swelling. I carried full-term, though, and had a normal labour and delivery with absolutely no complications. She weighed 6lbs.7oz.

I had my tonsils out in 1976. No serious complications other than my post-op recovery time seemed to be somewhat delayed..

I developed crippling back pain for several years - but despite all kinds of tests, no cause for the pain was ever discovered. I personally thought it was the sciatica nerve although that was never officially diagnosed.

I was diagnosed in 1981 with Epstein-Barr and Cytomegalia inclusion viruses - talk about tired!!! But I still managed to raise my three children, (alone, I might add, as I was divorced by this time), go to college full-time, graduating with an honours degree in business administration, plus,  I worked part-time. The first year I was in college, I was hospitalized twice. Once with a severe pain in the head and the second time to have my appendix removed. The size of my appendix was 2 inches in diameter and 8 inches long which I was told  is a huge appendix!   Since I don't generally go around comparing appendix, I wouldn't know.  Later, it was suggested that the severe pain in my head may have been caused by the growth of the appendix.  How, or, why that would cause a severe headache, I don't know.

I had a partial hysterectomy in 1983  (one ovary left - which later developed a cyst that ruptured and caused me no end of problems in 1991).   Routine blood work in 1983 revealed something abnormal - and a bone marrow punch was performed.  I was told I had very little red blood cells and had to take iron pills for about a year. No follow-up was ever done so I don't really know why I wasn't producing red blood cells at that time. I also had to take folic acid the following year.

I began to experience severe muscle pain and debilitating fatigue. I tried everything to alleviate the pain and fatigue....I quit smoking, lost weight, exercised, took vitamins - you name it, I tried it. I was the "healthiest" sick person, around!!!  I even went to counseling, in case it was "all in my mind"- a healthy mind, a healthy body, I was sure!  Still, the pain and fatigue persisted, but, it was episodic, all test results were normal, and, so therefore, I just learned to live and cope with the bad periods.   I changed my occupation, found a less stressful job and went on with my life. The bad episodes were manageable.

But the bad episodes didn't stay manageable.  The episodes of debilitating pain and fatigue continued and then, worsened....so every once in awhile, it would overwhelm me,  and,  back I'd go to the doctor's office, trying to find out what was going on.  It was terribly frustrating.

I had an NMR Spectroscopy study done.   The interpretation reads: "This study is grossly abnormal. The pH changes are typical of those that we have described in a forthcoming publication on malignant hyperthermia. Most of our patients with malignant hyperthermia however did not have such a marked drop in their phosphocreatine values. Our data supports the view that malignant hyperthermia is a myopathic process that would be consistent with the findings observed in this case."

A year later, I had another NMR Spectroscopy study done.. The interpretation reads:  "This study is once again very abnormal. In its major features it is very similar to the previous examination. However, the new features are a reduction of resting values of PCr and slow PCr after exercise. The sequence of examinations very strongly suggests an evolving deteriorating process. The finding of abnormal resting concentrations of PCr and slow recovery after exercise would require that the differential diagnosis be expanded to include mitochondrial disorders."

I remember being so dismayed at my lack of strength, at times.  And, at other times, I would feel "normal".  I always "looked" normal, too.   In  London, Ontario, one of the doctors I saw  talked to me about how energy is produced in the body and the analogy I was given was that you could have a beautiful, brand-new shiny car in the driveway, but, without fuel, that car wasn't going anywhere.  Well, like that new car, I could look healthy, but, without producing "fuel" properly, I wasn't going anywhere, either!

As time went on, I began feeling worse and worse and more weird symptoms began to rear their ugly heads. I must be crazy, I'd think. I will just pretend this is not happening to me.

Then I began to get bouts of dizziness. I made an appointment with my neurologist and was told that when a doctor hears that a patient is "feeling dizzy", it's a red flag that the patient has emotional problems.  Me? Dizzy? Nah. I was just kidding.

But it went from bad to worse. 

I began to experience urinary incontinence, much to my horror - at this point in time, I went to see my neurologist again, and,  I very timidly suggested that I thought it might be a muscle problem as I was getting worse and weaker.   I'd always been an exceptionally strong person.  I hated the weakness!  I'd like to see another specialist, I asked - how about someone at the Montreal Neurological Institute, I suggested?  I had heard from a doctor friend of mine that they were brilliant at diagnosing weird diseases, and, this was certainly weird!  The neurologist flatly refused to refer me. I was astounded!!  The logic was that I was just going to end up being diagnosed with a rare muscle disease and since there was no cure anyway, for these rare muscle disorders, why waste money, medical resources and busy neurologists time chasing a diagnosis for something that had no cure or treatment?  I could understand this kind of logic, in a way, and so, I deferred.

And got worse. 

I was referred to a urologist for my incontinence. After urodynamic studies,  he told me my urinary incontinence was due to an "underlying muscle disorder".   I began to experience bowel urgency.   By now, I was having only very brief periods of respite. It had become more than I could bear. I finally had my family doctor (God bless him) refer me to the specialists in Montreal and off I went for a biopsy and a few months later I got the results.  Multicore Myopathy.

What in the world IS Multicore Myopathy?   Multicore Myopathy is a skeletal muscle disorder causing proximal skeletal  muscle weakness.  The typical feature on skeletal muscle biopsy is the presence of small cores within muscle fibers from which mitochondrial enzymes are absent. 

I was still working full-time but getting worse and worse. Two bouts of incontinence at work mortified me.  I only live six blocks from work, but, fatigue would overwhelm me, and I could barely see to drive home. I would drive most of the time by "instinct and familiarity".    There is only 2 red lights on my way to and from work, and, I would be trying to fall asleep at them, on my way home from work.   When that began to happen on my way TO work, I knew I was in deep  trouble.  Sometimes my vision would be affected by fatigue.  I'd be so tired, I could hardly concentrate.   Other times my vision would blur and shake and shimmer.  I would see one and a half of everything!  I would get so confused!  Still, I learned to compensate, as best I could, and,  I persisted in working, and, keeping up my pace.

I began to get as many articles as I could on multicore myopathy. There weren't that many.   I read and read and read and re-read them, and, ended up even more confused! So I stopped researching completely.

I convinced myself if I just ignored the problems, they would go away.  But, they didn't, of course.  They got worse than ever. 

Because I'd decided my problems could be ignored, I not only stopped resting when I felt ill, I would push myself until I couldn't stay on my feet a moment longer.  I was sure that it was the right thing to do.  I  was convinced I wasn't going to go on 'babying' myself .  Period.  I was made of sterner stuff than that..... And, then, I suppose the inevitable happened......

I  woke up on June 11th, 1995, and, I was unable to get out of  bed.

I couldn't move without terrible pain. My entire body felt like it was on fire with muscle pain and  I felt like I was choking to death.  How could this be happening to me?

That was the very last day I worked and to this day, I cannot set foot in the library.  I can't even drive by without my heart dropping.  After all these years, I miss it like it was yesterday.

At first I was sure I would only be off work a day or two.  I thought  I only needed a day or two of rest and then I'd be okay.   Then, when I didn't feel better, I thought, well,  perhaps a week or so?  Then,  a couple of weeks? The days became weeks the weeks became months and I wasn't getting any better.  I was SO furious!!  I'd always had "bad episodes".  Now, I didn't even have "good episodes"!!   I ranted and raged and made my life and the lives of others' around me, I'm sure, unbearable. 

Eventually, after a couple of years, I went back to researching bits and pieces of what I could put together.   I found articles that said MCM  COULD be progressive and COULD result in significant disability.   I also started finding disturbing information that MCM can affect respiratory muscle and that also cardiomyopathy can be a factor. A bell rang in my head.    I took a look at my mother's autopsy report and read that she died of cardiomyopathy at the age of 55.  I remember the years and years she suffered with symptoms very similar to my own and pieces of the puzzle began to fall into place. 

In reading about a totally unrelated disease, (one that affects the central nervous system), Multiple Sclerosis, I read that MS can be remitting/relapsing or chronic, or chronic progressive.   These terms made sense in helping me relate to, and, explain, understand and learn to cope with,  the course of my own illness. I *used to be* remitting/relapsing.   What I was experiencing, at that point in time,  was a change from being R/R to being "chronic".  I believe I  have now become "chronic progressive".  Naturally, I take every precaution possible, and, I hope and I pray to be SLOWLY "chronic progressive".  

Where am I at, today?   Simple, every day activities result in severe muscle spasms, nausea, muscle fatigue, muscle pain, head pain, chest pain, shortness of breath, ptosis, blurred vision, bladder and bowel urgency and incontinence, fasciculations, clonus,  and, total exhaustion.  This exhaustion is unlike normal fatigue in that it is extremely debilitating.  

In my opinion, I think I am deficient in some enzyme that is needed to produce the energy needed to allow my muscles to function properly.  Because of this deficiency,  my muscles have limited available energy supplies and they start to malfunction which shows up as cramping and weakness and the "myriad of other symptoms" I experience.  When my activity outstrips my body's ability to provide energy and the muscles malfunction,  I believe this causes real damage, and,  can actually cause my muscles to breakdown. This may even be the reason for "cores" in my muscle fibers.    I believe this can exacerbate and even cause a progressive decline in muscle power.  This rate of progression may be slow and inapparent, at times, but, when a decline in muscle power actually becomes apparent, it is only because the ability to do some activity becomes more difficult.    In other words, when the power I need for some function falls below the level I need to accomplish this task it seems I am worsening,  when actually,  I am simply crossing a threshold.

I use a wheelchair, most of the time,  and a cane on my good days......sometimes I use the cane simply for balance and other times for support AND balance!!   I  "wall walk" at home, hanging on to walls, counters, strategically-placed chairs and things, and I've learned to do this with a certain amount of grace, I think!  I no longer drive a car. And, of course, I no longer work.  I no longer sing in the choir.  I no longer take tole painting classes.  I no longer have large weekly Sunday dinners.  I no longer attend church weekly. I no longer do any gardening.  I no longer do much housework (no loss, here, I'll tell ya).  I am now experiencing the very early beginnings of  respiratory difficulties, however, our home became a smoke-free environment in the Spring of 1998, and that has helped me, considerably, I've found.   I no longer feel 'air hunger' all the time.  My poor husband has to smoke outside, unfortunately.   I have intense pain and if I "overdo" it, in any way, shape or form, I feel so sick I can barely move or concentrate.  Sometimes I feel this overwhelming sickness even when I don't overdo it,  which is horribly frustrating,  but, I am extremely fortunate in that I am able to rest when I need to....I don't have young children I have to cope with. 

No matter how much I rant and rail against it, it is what is happening to me.   I've been asked to describe what the pain feels like.  The closest I can come to describing it is to compare it to a deep, charley horse type pain that burns......ever had a charley horse in your foot or leg?  It stops you  in your tracks!!!   I get deep, burning, charley horse type pain in my throat, chest, legs, hips...everywhere!  But, pain CAN be partially medicated away (at the expense, of course, of your mind!).   I think the worst  I experience is the overall feeling of sickness,  weakness and, of course, debilitating, exhaustive fatigue. It is demoralizing to be unable to do things I once could do so easily. 

So far,  I have had no cardiac involvement, thankfully.  However, all my life,  my blood pressure has always been low....90/60, 100/70 - very rarely was my blood pressure ever over 100/70 and then only 105 or so.  Now, I have had several blood pressures readings of 150/88; 130/88...maybe not high by regular standards, but, I suspect, high by MY standards.  It bears watching.  I am trying to eliminate salt from my diet and I am trying to lose weight. 

But, this narrative doesn't tell you the whole story about my  life.    I have the best of medical care....terrific, progressive, open-minded doctors,  one and all,  right from my family doctor, Dr. Park,  to my respirologist, Dr. Jany; to my cardiologist, Dr. Kim.   I  have a wonderful husband and children (all seven of 'em plus two terrific sons-in-law).  I have SEVEN  wonderful, adorable grandsons and a beautiful granddaughter, a fabulous, extended family, many kind and marvelous friends and lots of  interests.  I thank God for my family and friends, believe me!!!  They make my life worth living, and, I do hope, and I do try,  in some small way, to contribute something positive to THEIR lives.    I'm no "Pollyanna" - cheerful no matter what!  No,  there are some days I'm very frustrated and angry,  I'm human, after all!  But, I do try to keep a positive, up-beat attitude, and I do try to stay grateful for what I DO have.  Anyone recently diagnosed shouldn't despair or give up hope.   Research into myopathies is on-going.  I  take each day as it comes and I do my best.

Please report all broken links and non-working email addresses to famadio@cogeco.ca

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