Wednesday, November 26, 2014


I've been working hard to take control of how my diet interacts with my CPT2.  My brother has taken MCT oil regularly for years -- and he has also been less symptomatic than I am.  I had long assumed that this was because he is a good weight for his height, whereas I struggle with my weight.  I still think that this has something to do with it, but there is a bigger role for MCT oil than I thought.

Over the past month, I've been regularly adding MCT oil to my diet.  My muscles have behaved much better with added MCT oil.  I'm going to stick with this for several more months and reevaluate, but my current thinking is that it is going to end up being a permanent dietary change.

MCT oil apparently has a smoking point of 350 degrees, so it is a bit limited as to how it can be used.  An easy way to incorporate MCT oil is substituting it for regular oil in cookie and brownie recipes and boxed mixes.  If using boxed mixes, look for ones that have minimal fat already in the mix.  Pillsbury makes a brownie mix with less than 5% of calories from fat in the boxed ingredients.

Because the goal of adding MCT oil is to develop a tasty and well-tolerated MCT delivery system, I haven't cut the amount of MCT oil in the recipes.  That said, MCT oil appears to saturate the food far better than regular oil -- the food is far more moist than with normal oil.  It hasn't been an issue for me (kind of a plus), but there is a difference in texture.

Also, be sure to label your food as "MCT Oil".  Hypothetically, if my daughter's friend slept over, smelled freshly baked cookies, didn't know they had MCT Oil, ate a dozen of them (without asking!) and then destroyed the bathroom, that wouldn't be good.  MCT Oil is tough on the stomach.  So label, label, label.

Update 12/12/14:  Here is a mini-cookbook for MCT oil:  [UPDATE:  Looks like that link is dead now]

Tuesday, November 18, 2014

My belated response to the Invisible Illness Week list of questions

I was recently given a link to a page about invisible illnesses.

CPT2 seems to qualify:  It is difficult to know somebody is experiencing an episode, and medical providers often have only the patient's self-reported description to go on. Given that, I thought it might be interesting to answer the 30 questions myself:

30 Things About My Invisible Illness You May Not Know
1. The illness I live with is: CPT2 deficiency. 
2. I was diagnosed with it in the year: I was diagnosed December 8, 1992. 
3. But I had symptoms since: I can remember having symptoms around kindergarten.  I actually can't remember a time before I had symptoms.  
4. The biggest adjustment I’ve had to make is: Practicing mindfulness about my physical status and limitations.
5. Most people assume: I'm fine.  Even those who know I have CPT2 have a hard time understanding that somebody can have a significant condition yet be perfectly fine almost all of the time.
6. The hardest part about mornings are: I have three daughters, and getting to see them first thing in the morning is always great.  Actually, I feel great most mornings -- being nearly motionless for eight hours isn't exactly a trigger for a muscle condition.
7. My favorite medical TV show is: Mystery Diagnosis.  CPT2 was featured on it twice.  At least I have something objective to point to to help people understand my condition.
8. A gadget I couldn’t live without is: My brain.  Seriously, I love computers, hardware and software, but my brain -- my "wetware" -- is my favorite gadget.
9. The hardest part about nights are: Trying not to eat late at night.  If I eat late at night, I replenish my carbs for the morning, but 99% of nights, my carbs are already just fine.  I just have trouble telling when it is one of the 1% of nights that I actually need to eat. 
10. Each day I take: Bezafibrate (Bezlip) 400 SR in the morning.  There is some evidence that it up-regulates CPT2 production.
11. Regarding alternative treatments I: Don't have a choice.  There are no actual, scientifically validated treatments (other than Bezafibrate, which is only partially effective).  There are so few people who have CPT2 that anecdotal evidence ("MCT oil works for me", or "Corn starch helps") carries a lot of weight.
12. If I had to choose between an invisible illness or visible I would choose: I have never known life without CPT2.  I love myself for who I am, flaws and all.  I do wish that I had been diagnosed earlier, I could have avoided a lot of pain.
13. Regarding working and career: I get distracted at work and don't remember to eat, which then causes me to have trouble working.  When work stresses me out, that can sometimes trigger an episode.
14. People would be surprised to know: How terrifying it was before the Affordable Care Act, when I lived in fear that I would lose my insurance and be unable to get new insurance (because of the preexisting condition I was born with).  I can't imagine being unable to afford to get medical help when I need it.
15. The hardest thing to accept about my new reality has been: Well, it isn't a new reality.  It is an evolving reality.  As I learn more about my condition (when I was diagnosed, there were fewer than 50 diagnosed cases -- now we're in the hundreds), I try to change my lifestyle to fit.  Old habits being hard to change and all.
16. Something I never thought I could do with my illness that I did was: This question doesn't fit my experience.  People with CPT2 can do anything "normal" people can do, we just have to be very careful about how we do it.  I suppose if I ran a marathon without constantly taking in carb calories I would be in deep trouble, but my limits are always in combinations:  If I do X and Y happens, I have a problem.
17. The commercials about my illness: I wish there were commercials about my illness.  Too few people have it for it to be of even the most remote interest to the drug companies.
18. Something I really miss doing since I was diagnosed is: Nothing.  I don't remember a time before I was aware that something was amiss, and by the time I had a formal diagnosis, I had already structured my life around my limits.
19. It was really hard to have to give up: Eating whatever combination of carbs/fat/protein I wanted.
20. A new hobby I have taken up since my diagnosis is: I think my diagnosis had a subconscious effect on my choice of hobbies.  Before my diagnosis I took up scuba diving, mountain biking, swimming, etc.  After my diagnosis I took up far less physical hobbies.  I never spotted that pattern before today.
21. If I could have one day of feeling normal again I would: I'm lucky.  I have many days of feeling normal.  If I had one day when I didn't have to worry about CPT2, I'd go on a long hike (exercise = trigger) in the snow (cold = trigger), and I'd power it all by eating fat (high fat diet = trigger) and protein.
22. My illness has taught me: That it is hard to miss that which you never had.  I've always had CPT2, I've always lived with the symptoms, but I've never thought of myself as disabled.  There have absolutely been times when I couldn't walk from the bed to the bathroom, but my internal dialogue is not "oh, poor disabled me".
23. Want to know a secret? One thing people say that gets under my skin is: "You got the right answer, but you got it the wrong way, so you're wrong."  I know, it has nothing to do with CPT2, but as an inventor, it makes me nuts when people say that.
24. But I love it when people: Open up about their own life experiences in response to my opening up about my condition.  As humans, we have so much in common -- but we find ways to pretend we don't.  Honestly discussing my own vulnerability gives people a safe place to talk about their own issues.
25. My favorite motto, scripture, quote that gets me through tough times is:  I love myself.
26. When someone is diagnosed I’d like to tell them: Research the disorder.  Track your own experiences and how your body responds.  Network with other people who have it. 
27. Something that has surprised me about living with an illness is: I've always lived with it.  So no surprises.
28. The nicest thing someone did for me when I wasn’t feeling well was: Believe me.  This is a disorder that often involves no outward indicators that anything is wrong.
29. I’m involved with Invisible Illness Week because: Somebody sent me the link, and it resonated.
30. The fact that you read this list makes me feel: Like I accomplished something.

Subclinical Episodes

One of the people on the CPT2 Google Group responded to my post about ADHD and CPT2 with some very thoughtful observations, including this one:  "There is a lot of room in between for sub-acute symptoms: muscle pain, fatigue, etc without full out rhabdo (I also am fortunate not to go into a full out rhabdo situation but somehow I now have near constant day to day issues)."

Wow.  That struck a chord with me.  I also have very frequent issues that are systematic, but easily mistaken for other things.  I am going to try to list the symptoms I experience during times short of full muscle breakdown.  Some of them are probably unrelated to CPT2, but I'm sure others are related.  I will be updating the list as I remember/experience more of them.

Low Grade Fever:  This is a new one for me.  On and off for the past half-decade, I've noticed I frequently get fever in the 98.7 to 99.9 range.  This usually lasts an hour and then is gone.  My wife pointed out that these fevers usually follow a CPT2 episode, sometimes by as much as a day.  That made me realize that the fevers also follow CPT2 triggers, even without a noticeable CPT2 episode (i.e. eating too few carbs, exercising, stress).

Nausea: I often get nausea if I eat too high a percentage of fat at a meal.  This is relatively new to me, and I wonder if it is related to the CPT2.  I know I'm not supposed to have much fat at all (a former nutritionist told me my calories should come from 70% carbs, 20% fat, 10% protein).  It is possible that this is my brain signaling me to eat the right amount of fat for my condition.

Fatigue: I'm sure that many people get fatigue when they exercise, are stressed, don't get enough sleep (um, tautology, anyone?), or don't eat enough.  That said, I notice that I'm tired for about 48 hours after a major episode -- and I have fatigue a lot of times following a triggering event even in the absence of an obvious CPT2 episode.

Indecisiveness: This goes back to the post about ADHD and CPT2 -- I have trouble making decisions when I am experiencing the build-up to an episode.

Impatience/Bad mood:  For years, I had a night-shirt with the Snow White "Grumpy" character on it.  It was my way of poking fun at how grumpy I was sometimes.  Since my hospitalization, I have kept an eye on the conditions that accompany my mood shifts.  I've long known that a "sugar crash" (i.e. eat a lot of simple sugar and after the body floods with insulin, a sugar-low happens) will trigger a mood shift, often mimicking symptoms of depression.  My recent observations are that I very rarely deviate from a great demeanor unless I am hungry, sick, stressed, have recently exercised, or have otherwise experienced a CPT2 trigger.

Binge-type eating:  This one is easy to explain.  As background, for me, the pain of a CPT2 attack is quite similar (often identical) to the muscle aches one gets from working out too intensely. In addition, the pain does not magically go away once I have had sugar and the muscle breakdown has stopped.  Instead, the pain goes away in about the same manner that muscle pain from over-exercise goes away -- slowly.   These factors both drive binge-eating (or, more precisely, a carbohydrate frenzy) under two circumstances. The first circumstance is when I experience muscle pain that feels like a CPT2 attack has happened.  I want to stop the attack effectively and quickly, but because the pain doesn't abate for hours (at least), I can never tell when I've eaten enough.  Fear of the attack worsening drives me to carbohydrate frenzy -- because I can never tell when the attack has stopped worsening.  The second circumstance is when I feel the beginning of muscle breakdown.  This can even be in a small muscle group, like the muscles in my hand after using a screw driver for too long.  My brain starts to scream at me "you're going to have a CPT2 attack if you don't eat".  That's all I need to hear to grab many carbs.  This second circumstance is less of a carb frenzy than the first because the absence of any major muscle breakdown means that the symptoms abate relatively quickly.

Cloudy urine: I know, outside of a medical context, this is too much information.  That said, I notice that during periods when I'm at risk of a CPT2 attack or experiencing a mild one, my urine has, well, texture.  The closest thing to an analogy is that it is like I'm looking at the toilet water through a heat source like the area above a lit candle.  There is almost a shimmery aspect to it.  Super weird.

Forgetting to eat/Unable to decide to eat: This is probably a subset of the "indecisiveness", but it has an additional aspect that bears considering.  I have always had trouble controlling my weight, and I also know that some foods (carbs) will terminate a CPT2 episode, while others (fats, proteins) won't do a thing for me.  This ends up putting me in a choice spiral.  "Is this really a CPT2 attack?  If not, I'm going to get fatter."  "The only things on the menu all have too much fat or protein, that's too many extra, unhelpful calories -- should I eat elsewhere?"  If I get into the "I need to lose weight" mindset, it is common that the cloudy thinking that accompanies an impending CPT2 attack combines with the "lose weight" goal, and I just forget that I need to eat.

Hypochondria: CPT2 is a condition that pops up at almost random times.  It can cause all kinds of strange effects (mostly muscular).  This makes me very sensitive to my physical condition.  Whereas somebody with no fatty acid oxidation disorder might simply ignore a mild shoulder pain, I focus on it -- "is it an impending attack?"  Even if I'm sure it is unrelated to CPT2, the CPT2 has made me think about it.  Once I'm thinking about a physical condition, it is much easier to worry about it.

Messy/Forgetting to put things away (a/k/a brain cramp): A combination of the fuzzy thinking and an innate desire to minimize muscle use during an episode or during conditions where an episode may arise results in exactly what you would think it results in:  Minimizing muscle use.  I think probably 90% of the time, it is simply me being messy.  But I have caught myself expressly thinking things like "my legs hurt, no way I'm walking all the way to the garage to put this away".

Predicting illness: Finally!  A positive aspect of CPT2.  In the absence of other triggers, if I feel CPT2 symptoms coming on, it is very frequently an indicating that I have an infection (i.e. a cold) that is nearing the end of the incubation cycle.  In other words, CPT2 symptoms are often the first symptom of an illness.

Aphasia: I have not experienced this (at least, not that I've noticed), but there is anecdotal evidence that other CPT2 patient have experienced it.

Tuesday, November 11, 2014


Around 7 years ago, I was diagnosed with ADHD.  I spent about six years taking (time release) Ritalin for it, but the Ritalin didn't help much.  One pernicious aspect is that doctors increase your dose slowly, so any side effects aren't easily tied back to the Ritalin.  This gradual ramp-up also makes it very difficult to figure out if the Ritalin is helping at all.  The side effects were terrible, but subtle:  I was much more grumpy, hyper vigilant, and jumpy.

In 1989, I flew from California to Boston to attend law school.  The flight landed, I got to the dorm, unpacked, and headed to Harvard Square to get lunch (I don't recall specifically, but I'm pretty sure it was a red-eye flight).  I was hungry, but for some reason I couldn't figure out where to eat.  I didn't know the area and didn't yet have favorite restaurants.  After about 30 minutes of walking, my muscles started hurting.  Given my subsequent CPT2 diagnosis, I now know that I was undergoing rhabdomyolysis, but at the time I just thought that my muscles were doing that weird thing again.  I walked past restaurant after restaurant, each time thinking that I just wasn't sure if I wanted to eat there.  I wandered into various stores and looked around.  I was very hungry at this point, and my muscles were screaming at me to sit down (at minimum) and eat.  But I continued to wander about for around two hours.  Luckily, I walked past a falafel restaurant (later to become one of my regular lunch spots) and after a few minutes of indecision, walked in.

What does my two hour restaurant indecision have to do with Ritalin?  Everything.  Think about how CPT2 deficiency works:  My body burns through its carbohydrate energy sources and instead of supplementing that with fatty acid metabolism, sticks with carb-only metabolism until it runs out of carbs and switches to burning muscle.  Implicit in this even is that my body is depleted of carbohydrates -- i.e. I've become hypoglycemic.  One of the common side effects of hypoglycemia is cognitive impairment.  In my case, massive indecisiveness.  "Should I eat here?  Or shop for a bit?  Or eat there?  Or sit down?  Well, I don't want to decide between those...."

As a CPT2 patient, I'm exposed to many times when my body is carb-depleted.  For me, that state is associated with difficulty concentrating and difficulty making decisions.  No wonder the Ritalin didn't provide much help -- ADHD wasn't the culprit (or at least, not the sole culprit).  The primary problem was my brain didn't have the energy to work right.

Fast forward a few months from my arrival at law school, and I remember being unable to study for more than an hour or so without grabbing a candy bar.  I was self-medicating for the CPT2-mediated attention deficit by pumping up my glucose levels.

I'm no longer taking ADHD medication.  Instead, I'm carefully making sure that I have a constant flow of carbohydrates (drinking Gatoraide G2 during the day, eating raw cornstarch for slow release carbs, etc).  I still have lots of challenges staying on topic (perhaps one of the big reasons I've been a successful inventor), but the episodes of complete loss of attention are much less common.  Moreover, when I do find myself having trouble concentrating, more often than when I do an inventory of my day's meals and activities, I realize I am in carb deficit.

I have no idea if I actually have ADHD or not, but (apart from the taste) cornstarch has far fewer side effects than Ritalin, and for this CPT2 patient, works just as well (or better).

Monday, November 10, 2014

Another hospital trip -- is it all related?

On Wednesday, Oct. 29, I woke up a little after 6:00 am and had to go to the bathroom.  I remember feeling a dizzy.  I had been sick for a few days, and I woke up thirsty.  I walked to the bathroom and stood, leaning against the wall.  I remember perhaps two minutes from the rest of that day.  I'm told that my wife walked past as I was standing, and as she said "good morning", I slumped halfway to the ground and then fell over, hitting my head on the tile.

The first thing I remember after leaning against the wall is lying down on the floor in the bathroom, unable to stand up and with incredible difficulty focusing my eyes.  I remember my wife asking something (don't remember what) and then hearing her say "I'm going to call an ambulance".  I remember saying "I don't need an ambulance, please don't call an ambulance".  My oldest daughter (who I kind of remember being in there too by this point) tells me that it came out, slurred, as "don't call abulence".

I remember trying to get up, being unable to, and then asking my wife to please get help (of course, she had already told me she was calling an ambulance, but I didn't remember that at the time).

After what seemed like about a minute (I'm guessing it was longer), the bedroom was swarming with EMTs and firefighters.  They asked me my name, which I answered right.  Then they asked me what year it was.  Oh oh.  Unbelievably, I couldn't remember it.  More unbelievably, I could do the math necessary to figure it out.  I knew the elections were coming up, they were midterms, and that I'd worked on Obama's campaign in 2008.  He was re-elected 4 years later, and it was 2 years after that, so 2014.  It is the strangest feeling you can imagine to know that some brain functions are utterly impaired (part of my memory, eye control, muscle control) while others work perfectly (math and a different part of my memory).

Then the vomiting started.  Serious, projectile vomiting that lasted, well, I don't know how long but I know that they handed my a bag to vomit in and I was still holding it when we got to the hospital.  They loaded me onto a stretcher (I don't remember that, but I do remember being on the stretcher) and took me out to the ambulance.  I remember perhaps twenty seconds of my time in the ambulance -- just that there were some white boxes lining one wall.  I don't remember being taken out of the ambulance, but I do remember being in the emergency room.

In the meantime, my wife had calmed the kids down, called my mom, waited for my mom to arrive, then drove to the hospital.  A guard came in and asked me if it was ok to send my wife back.  Although it seemed to have happened immediately after being taken into the emergency room, clearly more time had passed than that.  Of course I had them send her back.  Luckily, she brought an iPad and a link to my blog about CPT2.  This gave the doctors the information they needed to understand my muscle disorder.

I don't remember having an IV, although my wife says I did.  I don't remember having blood drawn, although clearly it was drawn because there are blood test results.  I don't remember giving a urine sample (or getting a catheter?), but somehow they got urine since there are urine test results.  I do remember feeling panic set in when they said they were discharging me.  My brain still wasn't working right, so not only did I feel I shouldn't be going home yet, but I was unable to express it.  My wife took me out to the car (did I walk?  was somebody pushing me in a wheelchair?  I don't remember).  I'm guessing I spent the rest of the day in bed, but I don't remember.

I was diagnosed as having experienced vasovagal syncope -- basically your blood pressure and heart rate simultaneously drop and you faint, causing your head to drop to the same level as your heart, reducing the amount of blood pressure required to reach your brain and restoring consciousness.

My symptoms leading to the episode were:

(1) I was on about day 5 of a viral infection.  I was experiencing fever of around 100 degrees.
(2) I may have just contracted strep throat (as one of my daughters tested positive for that the next day).
(3) Fearful of taking medication with Advil (because it is a potential CPT2 trigger) or Tylenol (I worry about Tylenol being hard on the liver), the evening before I took Alka-Seltzer Plus Day/Night to keep my sinus congestion under control so I could sleep.
(4) CPT2:  One symptom I was unaware of at the time was that I was experiencing a mild CPT2 episode.  I nkow this because my CK (Creatine Kinase) was 396 IU/L (normal is between 4 and 161).

The upshot is that I ended up with a concussion.  I felt intensely dizzy and nauseous for the days after the event, and nearly two weeks later, I'm still experiencing dizziness and nausea.  At the beginning I was constantly struggling for words and forgetting things.  I'm still noticing many more typos than normal and some struggling for words, but it seems to have improved somewhat.  I'm told that the post-concussion syndrome can last up to a month.  

I have been thinking that I've been having a really unlucky year on the health front, but I think it is all related.  I don't get sick without feeling it in my muscles.  The night after a CPT2 attack, I normally get low grade fever.  I have issues with triglycerides and cholesterol, both of which are lipids -- just as my muscles cannot burn most lipids due to CPT2.  And to bring it all together, it seems like the CPT2 episodes are becoming more frequent and more intense as I get older.

I don't know what the future holds.  I know my fellow patients have worried plenty about the intersection of major health events (such as removing a tumor surgically) and CPT2's effects (such as the predisposition for malignant hyperthermia under general anesthetic).  I refuse to live a life of worry, but perhaps it is wise to exercise a bit of caution.