Hi, I'm yet another 20 year old guy, and like I.R from Israel my diagnosis came as a result of an episode of rhabdomyolysis after a training event with the military. However, unlike most of the people who have provided stories here, I've only ever reached a CK level of about 10,000. I've seen some people give a percentage to their deficiency, and I'd like to know what numbers they are using. Personally, my biopsy tests returned a CPT level of 45 and my neurologist told me that the normal range spanned 52-120. I have been very active my entire life, and while I did experience what I now recognize as symptoms during High School track, they were pretty mild. One last question that I'm very concerned about is the view of the military towards this disease. Do you know if there is precedence for members of the U.S. military being dismissed for this disorder regardless of severity?
                                                                                     --Z.G.

Editors: Here's the way the percentage is figured. On the normal reference range quoted by your neurologist (52-120), the normal reference mean would be 86. Your CPT activity levels of 45 would be 52% of the normal reference mean of 86. 52% is classified as a partial deficiency and is in carrier range. Severe deficiencies that produce full-blown disease usually fall under 20% of normal, though CKs over 200,000 have occurred in people with CPT activity as high as 25%. We do not know of anyone being dismissed from the U. S. military after receiving a diagnosis of CPT II deficiency.

I am in awe. I just wanted to say I think it is outstanding that you have gone to the trouble of collecting so much valuable information on this topic. As someone who was originally diagnosed 13 years ago at the age of 17, I wish I had been able to hear from others how to live with CPT deficiency rather than having to learn it myself over the past 13 years. I have come to the same conclusions over that time re: lifestyle, exercise, food, etc due to trial and error (ok, quite often error for the first 8 years), but could have avoided at least one of my 120,000 CK episodes had I known just a small amount of what I was able to learn from your site yesterday! Thank you.                                                                   --D.M., California


I'm a 20-year-old guy from Israel and I was recently diagnosed with CPT 2 deficiency. It happened after I had a severe case of rhabdomyolysis during a 15 K hike while I was serving in the Israeli defense force. My CPK was close to 200,000 and I was in ICU for two weeks. I was later dismissed from the IDF and I'm kind of back on track now. I was a basketball player before the military and had some muscle pains but doctors said it was because of my bad knees. I guess this is more of a question than a reaction letter but there are a couple of things I wanted to know. First has there been proof of a severe asthma attack being the so called trigger for the rhabdomyolysis? Because I had one when I was suffering from the extreme muscle pains in my legs and my arms and face were shaking. Second, I'm not planning on giving up playing basketball--maybe on a professional level--is it safe, and can I use creatine (I've never used it before)? Your website is amazing and has really helped me understand my problem a little bit better. Thanks a lot.
                                                                                   --I.R, Israel

"Thanks for the work you do on the spiralnotebook site. It's great for people like us looking for CPT II information. My son, Sam, is 16 and has just been diagnosed with CPT II. He had an episode of myoglobinuria about 14 months ago (and a second about three months ago) and it has taken two muscle biopsies and lots of needles to confirm his diagnosis. Sam is very active--high school soccer, basketball, and track (400 meters, long jump and high jump)--and so we believe his case to be mild rather than severe. His myoglobinuria episodes came (1) after playing back-to-back soccer games without much water and no carbs, and (2) at the end of four days of 8-5 summer basketball camp. He has always gotten tired quicker than most and had learned to recognize when he needed to sit/rest before the diagnosis, but now knows the why behind the what of his experience."
                                                                                    --D.M., Indiana        


"Thanks for the great site. It has provided me with more information and support than anything else I've found."        L.G., Canada


"I am a neuropediatrician specializing in metabolic myopathies. I follow several patients with CPT II deficiency, and I just found The Spiral Notebook. Very interesting and well done."                                 C.Bruno., M.D., Italy


"I would like to thank you for the Spiral Notebook and the work you have spent relating it to other web sites. It has made research much easier and given me a resting point in a long frustrating search. CPT2 has been a prolonged and difficult diagnosis with lots of effort spent in chasing rainbows and doctors suggesting psychiatrists, which I have done several times."                --T.L., Oregon


"One of the most wonderfully validating things in your newsletter was the comparison of "normal" muscle pain against this incredible pain that we get with CPT! (See When exercise cramps your style.) I remember my friend telling me after he did some serious weight lifting about his muscle cramps and thinking that there is no way that his can be of the same ilk as mine. I mean, he can still walk! The part where it told of the muscle hardening and shortening is so vivid for me! That is an incredible visualization of the way it feels! It explains the extreme "ripping like" feeling when you extend a severely cramped muscle in the middle of a serious episode."                                                                    --J.D., Arizona

"I was shocked when Dr. Vladutiu told me of your newsletter and your site. I have CPT II deficiency and I've had over 30 episodes of rhabdomyolysis, with only the first 3 resulting in ARF (acute renal failure). I was amazed at your site and the fact that there are many more people diagnosed nowadays. Just so you know, I feel so much less "isolated" than before I got here. Your site is definitely put together well and the information is excellent, as well as the presentation."   --R. H., Texas


“I just found your site. I think that at the moment I’m at the lowest point in my battle since I’ve been diagnosed two and half years and was given no instructions on how to cope with this CPT2 def or the supplements I could take. And all I could find on the web was in medical terms. I gave up my search in the summer of 98, I guess a few months before this site appeared. Keep it up. You are being my sun."
                                                                                 --V.N., Macedonia

“Me and my sister are both diagnosed since childhood for CPT-II. I found The Spiral Notebook to be very enlightening and helpful, both psychologically and practically. I still have to look into some of the tips and helpful knowledge I could gather from it.                                                                  --G.S., Israel 


“I am glad I found your info on CPT deficiency. I have a patient who suffered some major crises and hospitalizations relative to this illness, the last one being in January of this year. He had CK values up to 500,000!! and barely survived with hemodialysis, artificial respiration, etc. We are now trying to avoid future attacks. We need as much info as we can get on protocols relative to the treatment of this disease. The hospital here definitely had trouble in the beginning because they did not know the disease. For instance, what to do in case of an accident where the patient might need anesthesia which would be avoided in patients with malignant hyperthermia. Also what drugs should be avoided. A complication in this 30-year-old is that he also suffers from diabetes. Can you guide us to some answers relative to the questions above? It is much appreciated.”
                                                                  --F.Bakker M.D., Netherlands 

Editors: For an MH protocol, see links at the bottom of "CPT deficiency and malignant hyperthermia." For a treatment protocol for rhabdomyolysis, see links at the bottom of "Anatomy of an attack."


“These www pages helped me to understand what’s going on with me. My doctor was not able to explain my odd symptoms. Due to this great on-line service, I found appropriate specialists in one of our research institutes by myself. I was diagnosed just after seven months of my first episode of myoglobinuria! Thank you!
                                                                                  --R.R., Poland

“Thank you for this site. I was looking for professional articles about CPT deficiency despite the fact that I understand almost nothing about the scientific publications. And then I saw your site. It was a wonderful experience to hear from people who feel just like you, the triggers, the day-to-day life. I didn’t know anyone with this problem except my brother.”                     --F.S., Israel


“Thank you for your incredibly informative web pages and please add us to your mailing list.”    --D.G., England 


“I just ran across this web site and got very excited. I just got out of the hospital yesterday from having a muscle breakdown attack and I am still recovering. I didn’t realize this deficiency was getting so much recognition. Thank you so much!”
                                                                          --A..C., Illinois 

"I’m the mother of a now 17-year-old son who was diagnosed in 1997 with CPT II deficiency. His dietician gave us a copy of The Spiral Notebook. I have a ton of material about his disease, but this is very informative. As my son was reading The Spiral Notebook he said, “Mom, this is all me.”    --D.W., Florida


“I have appreciated reading the contents [of The Spiral Notebook] and look forward to the update with the data from your survey. The information you collect is so important and belongs in the medical literature.”  --Robert W. Wortmann, M.D.


“I have to thank you for your newsletter...it was that which made me decide to begin researching CPT myself and exploring new foods that I can eat, so that I feel more in control by taking an active role in my recovery.”       --T. S., Canada


“After a recent hospitalization my doctor handed me the spring issue of The Spiral Notebook. I found it extremely informative and quite comforting. I would like to help out in any way possible and am willing to be part of your surveys. Every source of information helps.”  --R. K., Canada 


“I received a copy of the Fall 98 Spiral Notebook and the cover story could have been my exact story.”  --K.O., Illinois 


“After being told 20 years ago at NIH that I did in fact have CPT, this is the first time that I know that I am not alone. Thanks for a great web site.” --J.C.J., N.Carolina 


“I am an Israeli 24 years old. I’m interested in a hard copy of The Spiral Notebook. How can I get it? By the way, the site is very interesting and useful. Thanks.”      --O.F., Israel 


“I'd just like to thank you for producing The Spiral Notebook. It is a very informative resource for sufferers of CPT deficiency. I have experienced symptoms since my mid teens and was officially diagnosed just this year, at the age of 23, as having CPT II deficiency. It is great to have it readily available online, especially for those overseas such as myself (New Zealand) and to be able to read about other people's experiences and knowledge of CPT deficiency.”   --C.W., New Zealand 


“I am a 35 year old male who has just been diagnosed with CPT deficiency. I am having symptoms that are frustrating and it is nice to know that there is a publication like yours and a website.”       --D.O., Minnesota


“Your site deserves a huge pat on the back.”
                                --Jeff Shaw, M.S., Genetic Counselor