EllingFamily:TogetherWeThrive

Recently I got an email from a concerned mother who had a son recently diagnosed with CPT. She had found my site by Googling CPT. Since there are not a lot of people in the CPT community sharing their stories I thought I would share the questions and answers we exchanged through email in the hopes in would help others newly diagnosed with CPT.

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Email 1
My 17 year old son has been recently diagnosed with CPT 2 deficiency. It seemed to be triggered by a medication. However, in retrospect, he was having muscle symptoms for quite some time. He has never had any documented rhabdomyolysis. Could you please tell me if you are still doing any sports/exercise and how much can you tolerate? Are you taking any vitamin supplements/medium chain triglycerides or cornstarch? Are you eating anything specific prior, during or after exercise? I am at a loss as to where to find articles on exercise and nutrition with this disorder. He would very much to play college sports. The schedule looks ambitious. I know that being a three sport athlete, you would understand the commitment. I would like him to follow his dream, however, I am fearful as to the outcome since I know really nothing about this disease. Do you feel that this has been a progressive disorder for you or is it "stable".

Answer 1
To answer your questions- I still am quite active, I play
golf, basketball and flag football on for at least 5-6 hours a week.
My main issue is with lifting weights and lots of activity that
utilizes the muscles in my upper body which seem to "break down" and
get sore quicker that my legs and other larger muscle groups. I would
say that my CPT 2 is stable, however, over the years I would say that
my symptoms (muscle fatigue, soreness, etc.) show up quicker then when
I was younger. I tried supplements and other things when I was first
diagnosed but over time the best preventative measure was to eat a
carbohydrate meal or snack an hour or so before activity and to drink
plenty of Gatorade during the activity so my body would have plenty
sugar to use for energy rather than trying to convert fat after 20
minutes of aerobic exercise. Also some big adjustments were stopping
almost all anaerobic exercise (weight lifting mostly) and knowing my
limits and when my muscles are fatiguing and breaking down and knowing
that it is time to stop my activity.

That was harder in my late teens and early twenties but now I treat
and listen to my body better. The best website for information I have
found is http://www.spiralnotebook.org/ but I believe it stopped being
updated or at least is not updated very frequently. There also seems
to be a support group at http://groups-beta.google.com/group/CPT2/
which I am not a part of so I cannot vouch for the quality or activity
of the information or individuals there.

Being a three sport athlete and playing college football myself, I
believe that your son should pursue his dream of playing tennis if
that is what he wants to do, but he needs to understand and listen to
his body's limitations. Also if he starts having rhabdomyolysis and
extreme muscle fatigue and pain he needs to really examine his
situation and his activity as this can be life threatening and damage
his kidneys permanently is not handled properly. I know my CPT 2 got
worse when I got to college and the work out regimen and strenuous
practice schedule put more stress on my body. More than likely if your
son has CPT 2 and is exercising regularly he is breaking down muscle
tissue, just not enough of it yet for it to be visible in his urine.
If this is happening his CPK levels should be high when he gets blood
work done. Since I get regular blood work because I had testicular
cancer ( isn't life just full of surprises :) my doctor and myself
have noticed that my CPK levels on average without exercise are about
2-3 times the normal person's range and after some type of exercise
can skyrocket to 8-10 times the normal level. This is very common from
what I understand of individuals with CPT 2.

Email 2
First off-THANK YOU so much for answering my first questions! I do have a few more. You said that you had taken supplements and now eat before you exercise. Did you ever try L-carnitine? Have you ever tried glucose tablets during exercise? Any siblings/parents have this and have they been tested? Do you now have a sedentary job? Did you have an official muscle biopsy or the white cell screening test? My son had several small type I cells that seemed to confuse the physician. His assay for cpt2 was diagnostic. His cpt1 was borderline low normal. Have you ever had any blood pressure problems? at first when my son took a medication that triggered his symptoms, his blood pressure was quite high and his resting heart rate was also very high. Any trouble breathing with exercise?

Answer 2
I did try L-carnitine and I didn't have any positive effect for me
that I could tell so I stopped using it. I never did try glucose
tablets. We thought about my family getting tested but that never
happened as none of my immediate family had any symptoms. My first
cousin on my father's side (my dad's nephew), however, has had very similar
symptoms. I talked with my aunt about him getting tested but I never found out if he ever tested positive for CPT deficiency.

I do have a sedentary job, I am a web developer and work on a computer all day

I actually had three muscle biopsies. One punch biopsy under my right
arm and then two large muscle biopsies: one from my left shoulder and
one from my left thigh. I don't remember a white cell screening test.
I have not had any blood pressure or heart rate issues. Growing up I
did have exercise induced asthma but I grew into my late teen years
that got better.

Email 3
Once again, thanks for answering--I do have one final question.......do you
strictly adhere to a high carbohydrate/ low fat diet? I find that pizza and
burgers tend to be what most young men enjoy.. We do eat sensibly the
majority of the time-but the there is that ice cream treat or candy bar that
slips in and puts the fat % up there. Have you found that it makes any
difference if you do adhere to a very high carbohydrate intake?

Answer 3
When I was first diagnosed my doctor had me on a high carbohydrate
diet and wanted me to limit my fat intake to around 15 grams per day.
Being 19-20 at that time that was totally unreasonable and something I
could not adhere to. I tried to do the diet for about 4 months and it
limited my food choices and lifestyle so much I decided it wasn't
worth it. I even found that I felt worse on the diet as it cut my
protein intake from meat. Over the past ten years, I have tried to eat
a balanced diet but I do not count fat grams or worry too much about
high carb diet. Life is too short. I only really carbo load before
working out otherwise I try to eat everything in moderation and it
seems to be working for me.

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Like I said I hope this helps some others and feel free to contact me or leave comments on this post if you have questions.