Family Stories

Nanci's Story (Adult onset CPT 2)

I thought it might be interesting for some of the adults out there to hear another adult's story. My problems began in infancy, in the early 1950s. During my first year of life, I suffered what my parents thought must be polio (this was before the vaccine). I apparently became rigid and didn't move for about three days, following a fever. Of course, the pediatrician didn't know what to make of this, and everyone was relieved that it was NOT polio!

As a child, I suffered many bouts of what I now know is rhabdomyolysis, usually in connection with some infection or overexertion. Each time this would occur, I would be laid up in bed for several days, mostly unable to move and in pain. After it would run its course, I would recover and be okay for awhile. And, of course, there were the dreaded physical education classes! I was always the slowest, weakest, worst in everything! Gym teachers always told me to try harder, get in shape, and don't be so lazy!

I always knew there was something not quite right. No one else I knew had these bouts of what we termed "muscle stiffness," but the doctors never seemed to pay much attention to this. I was determined to maintain an active life style that included swimming, tennis, and skiing, and for the most part was able to do this.

As I grew into adulthood, the incidences of rhabdomyolysis became more severe. Sometimes the triggers were be fasting, menstruation, stress or illness. I still maintained an active lifestyle, but sometimes I would get "attacks" that would seem to come out of nowhere and last for days. I never found a doctor who could explain any of this, nor did I realize the seriousness of the situation.

In my mid-thirties, the situation worsened as I aged. I got a new job (I'm a special ed teacher) teaching emotionally disturbed adolescents who often acted-out physically and required physical restraint for safety reasons. After about seven months of performing these restraints, I fell gravely ill with renal failure. I had just recently gotten married, moved to a new community, and started this new job, so stress levels were high.

One day I started running a high fever (not unusual for me) and the ‘rhabdo’ set in. By the time my new husband got home from work, I had the telltale dark urine, which at the time I thought was blood. I didn't know what was wrong with me, but knew I was really ill. My husband insisted on taking me to the hospital and I agreed (much to his surprise, for I had always shunned hospitals before). After examining me, the emergency room doctor took my husband aside and in a confidential tone explained to him that there was nothing wrong with me ~ that it "was all in my head!" How he came to this conclusion, I will never know. Luckily my husband insisted we see another doctor, who was able to diagnose the renal failure.

I must say that the following two weeks were the most physically painful I have ever experienced. I received around-the-clock dialysis that was excruciating. I suffered a seizure and hallucinations. The doctor treating me had no clue why the renal failure occurred. When asked why, he simply replied, "Don't worry, it will never happen again." I always wondered "why not?" I was lucky, because my kidneys eventually began functioning again and I was able to resume a "normal" life.

Looking back at this time, I wonder why the nephrologist didn't seem interested in investigating the cause of the renal failure. In the meantime, I informed my employer that I could no longer perform these restraints. My employer informed me that I would therefore be fired, due to incompetence (I had a flawless teaching career)! What followed was an ugly lawsuit, which I eventually won. But, the idea prevailed that because I "looked fine," there must be nothing actually wrong with me.

The quality of my lifestyle continued to decline as I approached my 50s. I was still determined to remain active, but found that I could do less and less with each passing year. Long, beloved hikes in the beautiful Catskill Mountains became shorter strolls. I skied less and less, and often experienced muscle pain and weakness when doing nothing much at all! Even going up the stairs started becoming a chore, as I would need to hold on to a railing and pull myself up. I started to get scared. The kidney failure convinced me that whatever was going on was serious. I knew I should do something, but what? Should I see a muscle doctor? Is it an autoimmune problem? I really didn't know.

About this same time, my husband and I were trying to have a baby. Several miscarriages later, we gave up and adopted our son, who has become the light of my life! About five years ago, I was out hiking with my family, when my muscles just gave out, and I could walk no more. Luckily, my husband was able to find a forest ranger that rescued me with his jeep. This experience left me more scared. Then about two years ago, I think I hit bottom. I took my son to camp and had a few hours until I had to pick him up. This being the first day of summer vacation, I was jubilant as I began a short hike alone in the lovely mountain morning. About a half hour into the hike, my muscles gave out again, and again I could not walk! I was terrified. No one was around, and I could not get back to my young son who would be scared when his mommy did not reappear. All I could do was to lie in the dirt and yell for help. Eventually, I was again rescued. This experience left me rattled. I knew I had to do SOMETHING or my life would become more and more limited. But, I still didn't have a direction.

I think there must have been divine intervention when that evening, my husband leafed through an old Merck manual and found a listing for McArtle's disease! Now we were getting somewhere! I checked on the Internet, and it felt like we were at last on the right path. I was also lucky enough to find Dr Slonim that day on the Internet, who specializes in FODs. I was in heaven the first time I spoke to his nurse, Linda, and she didn't treat me like an alien! Dr Slonim and his wonderful staff worked diligently with me, and within a matter of months, I had a diagnosis! I understand this is actually pretty quick, but it took 50 years to get there! We started on nutritional changes and a trial run with alanine, an amino acid.

I went through lots of stuff when I finally received a diagnosis. At last I had a name to put to what I had been experiencing my whole life ~ CPT 2! And, I realized there were others that had similar experiences! On the other hand, the diagnosis seemed to make this a "disease," and I had to adjust to this.

Last year Dr Slonim suggested I might be a good candidate to participate in Dr Roe's study and I was accepted. Imagine my delight when I was suddenly surrounded by an entire staff of experts on CPT 2! Six months into the treatment, I have had amazing results! Gone is the persistent muscle pain and stiffness. I skied all winter and feel like I am getting my life back again! Of course, there are still rough spots. On my last visit (a month ago) I was plagued with high blood pressure and unable to complete exercise and strength testing. I am confident, though, that this will be overcome and that I will be able to continue my participation.

I think the most important part of all of this has been the HOPE it has given me. No longer do I feel like the alien that emergency doctor saw when he looked at me. I have found strength in knowing I have at least some control over what's happening in my body, and that I can hopefully look forward to a happy, active life! To all of you reading this, may you be well and happy!

Nanci Perrin
Saugerties, NY
vegiepal77@hotmail.com