NEIL
I had an operation on my right knee when I was 12 or 13 years old. I had never had any problems apart from my knees before this time. I had a cyst which had to be removed as it was eating away my patella. This operation was a success and I was back playing football within 6 months. This is where I feel that the problems began. I used to play football maybe 2 or 3 times a day in the holidays. I only came home for something to eat. However after a while I noticed that I wasn't recovering as well as I normally do and I put this down to the operation.

This carried on until I was 16, when I was a paperboy for a local company. I would play football on a Saturday for my local team, then I would do my round that evening. I noticed that I was getting more and more tired after games and it got to the stage sometimes that I couldn't do my round because I was laying in bed unable to move. My dad would say, no more football, but I never stopped.

This all culminated in Dec 1996, where I went to a concert in London. At the time I lived 70 miles away so I was staying with my friend, who was also going. The concert was excellent! But I can't actually remember anything from the gig. The next day however will always be fresh in the memory. I woke up around 1pm and decided that I needed to take a shower. Walking up the stairs was a bit sore but I knew that I had gone a little too far the night before. I came down and told my friend Nathan that I had to go on his bed to rest because I was really sore. By 5:30 pm I was almost paralytic. I could not move a muscle. I was trying to explain it to Nathan but he didn't understand and I didn't know what to do. At 7:00 pm Nathan's father came home from work, took one look at me and said,******! (He's Irish!). He literally had to carry me like a baby to his car and lay me on the back seat.

They took me to a local hospital called Chase Farm where they wheeled me in on a wheelchair. They got me onto a bed in the corridor after 45 minutes and told me to rest. Nathan's father went home but Nathan stayed there all night. During that night I was out of the corridor into a ward and woke up to find Nathan asleep on the chair next to me. Problem, I needed to go to the toilet. I woke Nathan and got him to get me something that I could urinate into. After finishing I couldn't help but notice the red color inside. I had this before once or twice and thought nothing of it. Nathan gave the bottle to a nurse and told her about the color. This is when the doctors were asking me all sorts of questions about drugs etc. They had phoned my father just before this to tell him that I was stable, then the next minute they had to phone him again to tell him that they were taking me into intensive care. I was put on a drip and slowly started to recover. The doctor had told my father that they thought it was drugs, which made me angry, but they didn't know what it could be. They still thought it was drugs even after numerous blood tests showed that there was nothing in my system. 

A few days before Christmas they let me go home. I had been in there for 12 days. Follow up appointments were made which led to an exploratory operation at the local hospital where they took muscle from my arm. This led to me seeing Professor Turnbull in Newcastle, although I had to pay my own way to get there. He took some more muscle and a skin graft and then diagnosed me with CPT deficiency and advised seeing a dietician. I was also told that my lifestyle wouldn't change that much.

I continued to play football and came to University for my degree. All my life I had wanted to play football and nothing else. The only reason I was at University was a backup in case I got injured playing. It never really set in that I would have to give up something that I had worked so hard to achieve and actually be quite good at. I had another couple of minor turns and this continued until early this year. It was March and I was playing my last game for University because of my work placement commitments. The next day I couldn't move, again but I rested for two days without going to hospital and gingerly went back to work.

Around a week later I caught the flu and that was it. Back in bed again and off work, but this time I had enough. I went to the doctor to get a slip so I could go for a blood test from the hospital. On the way, in the space of 500 yards, my legs went from sore to completely rock hard. I couldn't move. I was still 70 yards away from the cashpoint where I could get some money for travel. That took around 5 minutes, yet I still had to get up two flights of stairs for a taxi. There must have been around 200 people that were walking past me down that busy street yet I didn't notice any of them. I made it to the hospital where I had to wait in the outpatients department for 40 minutes. I took a urine sample and they gave me a bed not long afterwards. This felt a lot worse than the episode after the concert, but I was still only on a minor ward. No one knew of the illness (CPT deficiency). They had to go onto the internet to find relevant information. I was kept in overnight, and was on a drip throughout with glucose and saline. I was instructed to take a week off work, and see a dietician again to sort out my health. 

It is good to know that these people are there when you need them but the trick is to try and never let yourself get that far. It is hard because even a cold could cause trouble. My CK levels on that last day were 123,000 but I used to boast about it. It is only since I have discovered this web site that I realize just how serious this was. However I still don't know which type of CPT I have and still don't really know what to do everyday. The main problem I have is football. I just can't stop playing it. One of these days I am going to realize that this can't go on, I have to stop before my body stops for me. I really have to try and change my lifestyle and at least give myself a chance of living a fairly normal life. If I can't do the little things that I love, then so be it, there is no alternative.



TOM

I am a 42 year old male with partial CPT II deficiency. Problems started in early childhood with German Measles and prolonged fevers which left me extremely weak and with moderate kyphosis. An undiagnosed fever several years later further affected my back and weakened and slowed down my left leg. Throughout school I attributed my lack of stamina and difficulty to the childhood fevers. My first moderate attack was in gym class at 15. I agreed to run stairs for an hour if I didn't have to play team basketball. Trust me, with a slow leg and no endurance, basketball was out. I practiced stairs for 15 to 20 minutes daily for six weeks, and at the end did my hour as agreed. After showering, I found I could not walk without help and was half carried to my last class. My calves were swollen and painful for several weeks. 

By that time (15) I had already been working on labor crews in row crop fields for five years, and had learned that I could not work standing up for any length of time. When I was 17, I started landscaping to put myself through college. Heavy labor was nothing new and chronic pain was an old companion. 

Over the past 28 years I have only had five moderate attacks, with no CK levels taken afterward but with mild brown urine. I read of the acute rhabdomyolysis of others and marvel at their endurance. I own and operate a landscape firm in Oregon. For almost fifteen years I worked with the crews as much as possible, usually digging or using a pick from my knees, as I could not work standing up. After ten years of constant use, I stopped narcotics and robaxin in 1990. Tylenol 3, Robaxin 750 and Valium three times a day had worked fairly well. It was the only way to go back to work the next morning, but I often spent the evening in a rocker crying. For the last ten years I have been unable to work in the field as my health has deteriorated. These last few years I find myself less able to tolerate the stress and fatigue of managing a business, as the cramps are now constant in any muscles that I use on a daily basis, and my back is collapsing from fatigue. 

I have several objections to this illness: 
Chronic pain and cramps (hits any muscle with use, but 24-7 in calf and forearm from walking and typing). 
Glycogen depletion (hitting the wall) usually only bi-monthly but it takes 10-14 days to recover and I feel terrible.
Chronic fatigue in the muscles, worst in my back, but driving is difficult because of my forearms. 
Severe increasing joint instability (from muscle problems according to my doctor) 
No aerobic stamina (I object, but mostly because I can't do so many things I like). 
Acute pain from rapid exertion (like shampooing my hair), annoying but not the end of the world. 

My brother has severe bone loss and would appear to be in the same boat as me where fatigue from exertion is concerned. My little sister has similar symptoms during activity, but has learned to reduce activity and constantly drink juices when exercising. My father, son, and nephew show similar cramps problems, but none have been diagnosed

ALISON
Over the past year I have noticed that I have a cyclic physical and emotional state which appears to be directly related to my menstrual cycle. Just before my period (sometimes as little as 5 days and as much as 14 days) I am physically very weak needing to use my wheelchair a lot. During, I start to feel better. Just after, I feel quite well and often wonder what all the fuss is about? 

Just as I start to feel physically weak I feel like I can’t cope, mildly depressed, get anxious and panicky and sometimes very very angry (this has improved over the last year). I’ve noticed that at the physical and emotional low time is when I suffer the worst muscle pain (about 80%) and the past 2 attacks accompanied by dark brown urine have been during this time. 

I deal with the depression etc., but when I get the anger I’m so embarrassed--the anger and upset I feel at having CPT II often comes out with temper and frustration tantrums. I am learning to deal with this too. My family just leave me alone to deal with my grief-- which to be honest is what I think the anger is all about. 

I have noticed that by taking a very high dose of vitamin B-complex helps somewhat with the anger and moods but nothing seems to make any difference with muscle strength and pain which varies widely. 

Not meaning to be rude to any men out there, but I am wondering if any other women have noticed similar correlation with attacks and menstrual cycle? Has any research that anyone knows of been done in this area? Or are my attacks just coincidence? 

Answer from the Editors:  There is evidence that hormonal changes can trigger symptoms in people with CPT II deficiency. Beyond that, we have gathered survey information from women with CPT II deficiency on the correlation between onset of menses and muscle symptoms. In our Triggers Survey Results, currently 7 of the 15 women who completed that survey say that onset of menses does trigger muscle symptoms for them. In addition to these 7 cases, we've heard from quite a few other women with CPT II deficiency who report menstruation as a trigger for symptoms. The connection between menstruation and muscle symptoms is also mentioned in another patient story, Anatomy of an Attack. Interestingly enough, there is also good research in animal models and humans to support the notion that estrogen may protect muscles from exercise-induced damage, but these studies have been done in healthy women only and may or may not have any application to women with CPT II deficiency. Here is one article about Priscilla Clarkson's work on the possible role of estrogen as muscle protector. In addition, Canadian researchers Mark Tarnopolsky, MD, PhD, and Peter Tiidus, PhD, are actively studying the effects of estrogen in exercise-induced muscle pain. See Tarnopolsky's book: Gender Differences in Metabolism (CRC Press, 1999). Chapters include "Gender Differences in Exercise-Induced Muscle Damage" and "Estrogen and Oxygen Radicals: Oxidative Damage, Inflammation, and Muscle Function."