My Personal Story.

Page created: July 30, 2003.    Text revised: March 10, 2004.   Text updated: July 10, 2006.

Bill's Diagnostic Story So Far:

Since becoming ill, I have been a visitor to a number of web sites offering advice and support. Many of these web sites offer the personal stories of individuals and I think it has helped me to gain context, insight and patience by reading these stories. Therefore I have decided to post a synopsis of my experiences with my illness.

Looking back, I think my story began to come to light around the time I turned 40. The first thing I noticed that was unusual, was bending down at the store counter (doing a deep knee bend) and not being able to get back up. I then noticed that climbing stairs seemed more difficult as well. I didn't really pay much attention to these signs at first. The second major thing that caught my attention was a period of falling down. It seemed that for a about 6 months I was tripping, often stubbing my toe and falling over my feet all the time and I noticed it was difficult to get up. I probably fell about 40 - 50 times in all during this first "falling phase." As I paid more attention to my walking, the falling decreased and I also think that somehow my body adjusted to whatever changes in my legs that were causing this. So, the falling seemed to stop. I noticed other changes in my body, for example when having a shower and I could feel differences under my arm and shoulder and on my arms near the elbows. The calf region of my leg also approximately doubled in size and stayed enlarged for at least a year.

These issues kept coming up and I asked my brother for an opinion as he is a family physician. He gave me an explanation that made sense to me at the time, that I was overweight and got little exercise and therefore I was basically just out of shape. I resolved to try to get into shape and spent three months exercising quite regularly at a weight training facility. I kept track of the exercises I was doing and found that after three months I was not able to lift any more weight than I could to begin. By this time I was noticing weakness in my hands and fingers as well.

It was a bit awkward because I had been around medicine quite a bit in my life and also in my job. I had worked with a physician and a psychiatrist in my job for many years and didn't want to ask them their opinion. I wanted to try to get a medical opinion that was objective, from someone who had never met me, so I sought out an appointment with a family physician. I went to see Dr. F. at the end of August 2000. I don't think that he felt there was anything wrong with me to begin with, but I asked him for a blood test and he gave me a CK test. [A blood test that measures creatine phosphokinase - CPK; an enzyme found predominantly in the heart, brain, and skeletal muscle. When the total CPK level is substantially elevated, it usually indicates injury or stress to the muscles in one or more of these areas.] This test came back at a reading of 2000 (the high end of normal is 200) and he concluded that there was indeed something wrong with me and that I should see a specialist. I asked him what a really high CK would be and he suggested that mine was very high. He sent me to a rheumatologist whom I saw two weeks later. Dr. J. said she couldn't understand why I had been referred to her and said that my problem was certainly more likely neurological and that I should therefore see a neurologist. She told me that she saw patients with CK values of 200,000. I mentioned to her that I had weakness in my fingers and gave her the example that I was having trouble pushing the top on my deodorant spray can. She said "well you probably have ALS".

I then took my symptom profile to the Internet with the following items:
=weakness in the fingers and hands (difficulty in making a fist)
=CK ten times normal
=Frequent falling and tripping
=Difficulty rising from a chair or getting up off of the floor or getting up out of a bathtub.

This was enough information to return a Web search indicating inclusion body myositis (IBM). It turns out that this is a classic presentation of sIBM - the only thing that didn't match for me was the age, the median age for sIBM is around the mid sixties, so in the 40's, I was fairly young to have sIBM.

In October 2000 I saw my first neurologist, Dr. B. - 1. He examined me and indicated that he felt I had Becker's muscular dystrophy. He frowned at my suggestion of sIBM saying that I was too young - he said this would be much more likely if I was in my mid 60s.

I was asked to review my life and think of any examples of muscle weakness. I wrote a life history. I had never been good at physical education in school and distinctly recall that I failed the Canadian fitness test, a test the schools held across the country one year ( I think I was in about grade 7). This was a major problem at my school as I was the only student holding things up and the school wanted everyone to pass, so I recall the phys ed teacher helping me to do chin-ups. I was never really aware of any other specific instances of weakness but I can see that I certainly gravitated to academic interests and never really participated in sports activities. So, I could see where I could have a lifelong type of condition like Becker's. On the other hand, I had never really run into a major problems until now, so I thought this could be interpreted either way.

Dr. B. - 1 ordered routine muscle tests, for example, an EMG and a nerve conduction study. He also ordered a biopsy which was harvested in December 2000.

In January 2001, Dr. B. - 1 told me that I had inclusion body myositis and that I should "join Weight Watchers, buy a house with no stairs and consider taking Imuran for a year to see what happens".

I then went home and did quite a bit of research on sIBM and asked for another appointment. During this second appointment, in April 2001, I asked some specific questions about my sIBM findings, for example, what was my level of amyloid protein? The number of inclusions seen? Could they test for Tau protein? The presence of any paired helical filaments (PFHs)? I was told that electron microscopy had not been done on my sample and that the stain for amyloid protein (Congo red) was also not done. I was told that the basis of my diagnosis was the presence of inflammation in my muscle fibers. I said that I didn't want to take medication without more confirmation of the diagnosis and Dr. B. - 1 suggested that I "should stop asking questions, accept my diagnosis and get on with treatment". On the way out, I spoke to a staff person and offered her the literature I had collected, about 250 articles up to the present on sIBM and was told that the facility couldn't use them. She told me that I was "just going to get upset and confused if I tried to read and understand the medical literature and that I should do what the Doctor says". Having done a lot of medical research in my career on various topics, this was pretty shocking and disappointing for me to hear. I then asked for a second opinion on my case and was referred to another senior neurologist, Dr. B. - 2 and I saw him a few days later. His clinical examination suggested to him that I could have limb girdle muscular dystrophy and he agreed with me that more tests should be done on the biopsy before we accept an sIBM diagnosis and he ordered them to be done on the biopsy.

In September 2001, I saw Dr. B. - 1 again and he informed me that the additional specific tests looking for signs of sIBM had all come back negative. No inclusions were seen, the Congo Red was negative, no PHFs were seen. These findings certainly did not rule out IBM but they didn't support it either and he suggested a tentative diagnosis of limb girdle muscular dystrophy was possible. A few days later I saw Dr. B. - 2 and after reviewing the findings he felt that a diagnosis of limb girdle muscular dystrophy was also reasonable. Based on this conclusion, no medications were suggested.

After thinking about the tests that had been done and doing more reading, I decided to go back to Dr. B. - 2 in April of 2002 and I said that I wasn't satisfied with things and he suggested that I should have another biopsy to try to shed more light on my situation. A second muscle biopsy was taken in June 2002.

In July, I attended a conference on muscles in Vancouver and I was able to meet Dr. Engel and Dr. Askanas. Dr. Engel was very nice to me and read over my initial biopsy report. He suggested that the tests that he did in Los Angeles were more sensitive and could definitively diagnose my condition. He invited me to attend his clinic there.

My second biopsy came back and I saw Dr. B. - 2 again in September 2002. He said "I think you have sIBM but I can't prove that with these tests, nor can I rule it out and it could just as easily be an inflammatory [limb girdle] dystrophy. Why don't you try some medication and see what happens?. It came down to a choice between two different types of medications, the first one Imuran, a drug used to suppress the immune system to prevent organ rejection after transplants, for example, commonly used after kidney transplants. The second medication was IVIG, a medication commonly referred to as an immune system booster or modulator. Both of these medications involve a significant potential for side effects and I was not in a hurry to take either. I asked Dr. B. - 2 if I could have more tests done on the biopsy, for example, an SMI - 31 stain. I understand that this stain is sensitive to some of the protein abnormalities seen only in sIBM. I was told that I had had everything that Alberta could do for me in terms of diagnosis.

I was also able to have a long telephone conversation with the pathologist from Calgary about my second biopsy and he said that on very careful electron microscopy, he had found a protein sheet that he thought was consistent with sIBM but he said he had not seen any of the paired helical filaments common in sIBM. He suggested if I had a chance to see Dr. Engel that I should go to Los Angeles.

In December 2002, I attended Dr. Engel's clinic in Los Angeles and had a third biopsy done. About a week later I saw Dr. Engel again and he said that I did have sIBM ("10 hits on the first SMI-31 slide"). He also felt I had another disease called chronic immune [inflammatory] dysschwannian [demyelinating] polyneuropathy (CIDP). He said that for some reason, this second disorder was also common in patients with sIBM and that he has seen about 150 patients with this combination of conditions, although each disease is very rare. [I should note that the medical research literature has not documented a relationship between CIDP and sIBM and Dr. Engel has not yet published his findings of these 150, or so, cases.] The symptoms of CIDP and sIBM are very similar and both include weakness in the hands and arms and legs. Also interestingly, CIDP is usually treated with the same medication that has, until recently, been recommended for sIBM - IVIG . Dr. Engel said that if I just had sIBM he would not recommend any medication, but that I should consider IVIG to try to treat the CIDP part of my illness. He said for the sIBM, the only "medication" I could try was large doses of two supplements: coenzyme Q10 (CoQ-10) (1200 mg day) and L-Carnitine (3-4 grams a day). He said it was impossible to tell which disease was contributing what symptoms so I would just have to try IVIG and see what happens. So, I decided to wait for Dr. Engel to do his report and send it to my Doctors here in Alberta and then see what they suggest.

Dr. Engel's report came back in July 2003. In September 2003 I saw Dr. B. - 2 again. He did not agree with the suggestion that I had CIDP. He did not support any medication for me and referred me to the nerve specialist at the Calgary clinic. In December 2003, I saw Dr. Z. He did another nerve conduction study and carefully reviewed my case. He did not find any evidence to support CIDP and he also concurred with the suggestion that I not take any medication for my sIBM.

I am currently un-medicated. I am trying hard not to fall and I am trying to reduce what I eat.

Update 2006

I went through a long period of first using a walking stick and subsequently a cane to help steady myself. Even so, I was falling frequently, at first mostly from loss of balance and later from having my knees collapse. I was fairly stubborn -- a common reaction -- however, I would certainly say now that I went too long taking these risks. I was very lucky in that of all the times I fell, I only had minor injuries a couple of times, including being knocked out once, having a 50 stitch cut and breaking my ankle. I would emphasize that one of the key aspects of the management of this illness is to minimize secondary injuries due to falling -- these can lead to very serious complications and functional setbacks, especially when bones are broken. I eventually started using a wheeled walker and this was a very effective for about a year. Eventually, my legs became so unstable that I was falling down on top of the walker. I am now using an electric wheelchair during the day and must say that this is a tremendous improvement in my lifestyle, rather than inhibiting getting around, it is actually very liberating. As long as I don't fall out of it trying to reach the something, I am okay and it is very much safer than trying to navigate using the walker. The second major obstacle was getting in and out of the shower -- I am now using a Guardian Voyager Portable Overhead Lifter in the bedroom and in the bathroom. I'm also having assistance and this makes a huge difference (although again, people are very reluctant to to accept "outside" help, I can certainly say that we need to have an open mind). To have a shower, I am lowered down onto a plastic shower chair, eliminating any danger of a fall. This track system can also put me over the toilet. My main obstacles today are the fact that I cannot walk, have to be steadied while standing and that I cannot get in and out of bed alone. Finally, another irritating issue is that I cannot roll over in bed and this is fairly awkward. I am lucky to be able to have an Entervan to get around with -- I simply drive my wheelchair into the van and am locked into position using a Qstraint system. The van also has an EZlock system that allows me to lock in behind the driver's wheel. Based on the research I have read lately, I still have not used any medication. I tried acupuncture for a short period of time however, it did not seem to help and in fact, aggravated my weakness. I continue to be active as much as possible, especially on the computer, and I think this is a key thing to do in adjusting to a disease like IBM.

More stories from people with sIBM can be found in two books:
=Living with Myositis, J. Fenton (Ed.); Thoughtful Publications, 2003; ISBN 0-9545307-0-5
=Coping with a Myositis Disease Compiled by James R. Kilpatrick 2000; ISBN: 0970167105.
Remember, this is a harsh, progressive disease with no treatment. Personal accounts may seem quite negative to a person just receiving an sIBM diagnosis.