Monday, September 11, 2017

Beware the risks of recessive CPT2, at least with statins

I ran across an study today that everybody with CPT2 deficiency should be aware of.  It shows that those who are heterozygous for CPT2 (so not symptomatic) are 13 times more likely to experience muscle myopathy when given statins.

We know so little about fatty acid oxidation disorders that it makes sense for us to give our relatives a heads-up that they should let their doctors know they may be recessive for CPT2.  This is particularly important to discuss when getting statin prescriptions.

Click here to see the article and search for "CPT" to find the relevant paragraph.

Here is the relevant section:


Thursday, July 6, 2017

Visit to Vancouver General Hospital Adult Metabolic Diseases Clinic

Today was my intake appointment with the Vancouver General Hospital Adult Metabolic Diseases Clinic.

Let's start with the startling:  They know way more than I do about CPT2.  This may not sound surprising, but it is.  My normal routine is to teach my physicians about CPT2.  They then look up more information about CPT2, ask me questions, and eventually get up to speed.  None of that here.  They know this disorder, and I could not be happier to have this amazing resource in my (new) backyard.

I learned a few new things today:

(1) Carnitine (and therefore Carnitor) is associated with increased cardiac risk, and may be a primary mover behind the cardiac risk associated with red meat.  On balance, it is positive for my health to take Carnitor, but for the first time I learned that there is a downside to it as well.  I haven't eaten red meat in 34 years, and learned today that this is actually positive for my muscle health (Carnitor takes care of my carnitine levels, and red meat has a lot of long chain fats that are bad for my muscle condition).

(2) MCT oil in coconut oil form isn't a good idea.  Despite the medium chain fatty acid content, coconut oil has too much long chain fatty acid content to be a good choice.  Instead, refined MCT oil is preferred.

(3) There is a prescription grade MCT available in liquid or powdered form, as a prescription medication.  I'm going to try it.

(4) I don't need to fear protein.  My diet should be as low in fat as possible, preferably at or below 15% (I knew this already), but the protein component is recommended at 15% strictly because of the number of carbohydrate calories I should consume.  Until today, I feared that protein would present renal risk for CPT2 patients.  I was told it does not, as long as my kidneys are currently functioning properly.

(5) Raw corn starch is good for young kids, but in adults it is better to eat complex carbohydrates at intervals throughout the day.  Raw corn starch has little or no nutritional value beyond being a slow release carb.  I find raw corn starch difficult to stomach (literally, it gives me stomach aches), so I'm pretty happy to leave that behind in favor of regular bites of complex carbs.

(6) No more deep fried foods.  Watch out for Chinese food, salads loaded with dressing, and other high fat sources.  I'm letting this sink in.  No.  More.  French.  Fries.  That's a triple sad face, and it is going to strain my willpower to keep it up.

(7) It is possible to have a CPT2 episode without muscle breakdown.  I don't fully understand this, but I guess it is the period between normal and rhabdo when the muscles hurt but still function.  In some ways I have been aware of this, but I never thought of the pre-rhabdo pain as caused by CPT2.  Now I know better.

(8) The Canadian healthcare system is a far better place to have a chronic illness than the US.  There is no fighting with an insurance company to convince them that it is better to test for a metabolic disorder and treat it, instead of waiting until one is hospitalized with it.  The doctors, nurses, and others seem to actually care about me.  Because the doctors are salaried, they can switch between research and clinical work easily, allowing their work with me to benefit other patients.  I can also contact them any time -- and they don't need to worry about spending time on the phone without being paid, because the pay structure doesn't make that a problem.

(9) I need to be far more proactive in managing CPT2 via diet.

I am thrilled that I have this resource two subway stops away from my home.

Wednesday, February 8, 2017

Released from the hospital -- and near immediate partial relapse

Here is a tip:  Getting released from the hospital often means coming home to a bunch of overdue stuff.  Bills, overdue work assignments, fights with insurance companies over the hospitalization, friends, co-workers, and family members who subconsciously resent your unplanned and undesired hospital "vacation" -- there are plenty of stress points.

The problem with stress points is that stress is a primary trigger for a CPT2 episode.  Coming out of the hospital, you will likely be exhausted, sleep deprived (unless you can sleep through blood draws), stressed out, and a bit disoriented.  Exhaustion and sleep deprivation are also triggers.

So with that as prologue, I came home yesterday, and by mid-morning, I was feeling moderate muscle pain.  My urine was back to being cloudy.  I took that as a cue to pretend I'm still in the hospital and cut out as many trigger events as I could.  I'm going to try to get my CK checked tomorrow and hopefully today's episode was just a minor blip.  I really don't want to be readmitted.

Sunday, February 5, 2017

Hospital Tip: Know Your CPT2

I'm still hospitalized, but my numbers have dropped significantly and I'm hopeful that I will go home today or tomorrow.

This stay has been far better than my last stay in the same hospital some 2-1/2 years ago.  I've been trying to identify the reasons, and I think there are two, interconnected reasons.

First, the nursing staff has been outstanding (with a single exception that might be explained by a needy patient in isolation taking up her time).  They provided me with the information and care that I needed.  Part of it, I'm guessing, may be that the hospital has improved its hiring practices or training.  Regardless of why, I appreciate how much better the staff has been.  Since I may be discharged, and I know the busy chaos that discharge can be, I made sure to call the supervisor this morning to express my deep appreciation.

Second, I am now far more educated about my own condition, and was able to advocate more effectively on my own behalf.  For example, I know from last time that sharing a room can increase stress and lengthen recovery time (my CK rose last time by around 3,000 points overnight when my roommate was particularly disruptive).  I explained all of this to the admitting doctor, and part of my orders were that I have my own room.  Similarly, lack of sleep can be a trigger, so the orders say not to disturb me for vital signs, blood draws, etc., from 11 pm to 7 am.

I've had a different doctor every day during this stay, but my ability to communicate in detail about how CPT2 works has helped them -- even with the lack of continuity -- to stay on top of my treatment.

Last time, I sat in the ER for hours before being seen, and was refused all food until a doctor saw me.  This time I was able to explain the situation far more clearly, and was taken back immediately, tested, and put on D10 drip (and administered IV Carnitor) within about an hour of arriving.  That alone probably shaved two or three days off my stay.

I am able to keep my CPT2 information organized by blogged on this site about it, but for other patients, go with what works.  Just know that you are likely the first -- and last -- CPT2 patient the ER or hospital staff will see.  So if you're well educated about CPT2, you will have information they do not have.

Thursday, February 2, 2017

Hospitalized -- Again

I'm back at the hospital.  I'm writing this from the hospital, and I'm not feeling great, so I expect this to be a far more stilted post than normal.

What Happened Before The Muscle Breakdown?

We decided to move to Vancouver.  I was in Vancouver for work and to look for a house to rent.  I did not intend to come back until I found a place, so I flew out on a one-way ticket and booked a hotel through January 31.

When I left, my daughter had been on antibiotics for strep throat for 24 hours.  Because I was going to another country, I asked my doctor for antibiotics in case I started showing symptoms.

On January 30, I started to feel prodromal.  I ate lunch (my last solid food for a few days) and immediate felt nausea.  As an (unfortunately) experienced CPT2 patient, I knew how dangerous this was.  Difficulty eating plus illness are a bad combination.  I started to have sugary drinks to make sure my body had all of the carbs it needed.  I had all of the things I normally avoid -- non-diet Coke, apple juice, orange juice, regular (non G2) gatorade.  To my relief, my muscles felt fine.

I knew I needed to either get home or wait out an illness in a hotel.  I called the front desk and they were unable to extend my stay, so I booked a flight home.  I then took the first of the antibiotics, so that I would be on them for 24 hours prior to my flight.  I did not want to fly contagious.

I then made the mistake of getting into bed in the hotel.  I didn't have a thermometer, but I'm pretty sure I developed a fever, because I turned the thermostat way up, but felt very cold.  So cold, in fact, that when I needed to use the restroom, I waited until the heater fan turned off because the breeze from the heater was too chilling.

At this point, my muscles still felt completely fine.  I realized that I needed to somehow make it downstairs and across the street to buy more sugar drinks.  It took me a while to work myself up to where I actually got out of bed.  I finally got downstairs, bought a ten-pack of orange juice and a handful of Gatorades and rushed back to the room.

I got into bed and basically did not get up for around over 12 hours.  Aspirin with Codeine is sold over the counter in Canada, so I would take one and get a couple of hours of sleep, be up for a couple of hours, take another, etc.

My flight home was early afternoon, so having finished all of the Gatorade and almost all of the juice, and with the second antibiotic on board (so I was now 24 hours on antibiotics), I headed to the airport.

Both flights were easy, although I'm pretty sure I annoyed the flight attendant on the first flight by asking for apple juice about half a dozen times.  I was determined to make sure I had enough sugar in me to avoid muscle breakdown.  During the layover, I had more juice.

Finally, I made it home around 9:30 pm.  More liquids and off to bed.

Waking to a Whimper:

Around 4 am, intense pain in my upper arms and shoulders woke me and I started to cry out in pain.  I remember it as whimpering, but my wife is pretty clear that it was something between crying out and crying.  I told her "I can't move my arms", which understandably freaked her out.  What I meant to say was "It hurts too much to move my arms", but either way it was bad.

By now, my body was in CPT2 muscle breakdown.  I was cognitively impaired (goes along with CPT2 episodes often), and because of the very unusual circumstances (lots of sugar for 48 hours prior to episode, episode impacting primarily upper, not lower, body) I had trouble seeing that this was a CPT2 episode.  My wife, of course, figured it out immediately and told me to go to the hospital ER.

Rather than do that (because, I'd like to think, of the cognitive impairment), I called my doctor when his office opened and asked if I could get a stat CK test to see if I was in muscle breakdown.  I left the message with his nurse and never heard back (I still haven't).  After 90 minutes, I gave up on the idea of going through my doctor and went to the ER.

Thanks to my proper ER protocol letter and my pretty long-winded explanation of what CPT2 is and how it works, they did an EKG right away together with a CK blood draw.

Surprise -- the CK test came back at around 9,000.  They admitted me to the hospital.  As an aside, the treatment at the hospital, St. Agnes, has been (as of right now) stellar.  I have literally no complaints about how things have gone.  The staff was super friendly and helpful, and there was plenty of empathic treatment.

What?  It rose?

In the ER I was given D10 and IV Carnitor.  So with 48 hours of high sugar availability, D10 drip and Carnitor, I was admitted and they did a second blood draw.  I was pretty shocked that my CK more than doubled from the first reading.

I don't understand this disorder as well as I thought:

Until now, CPT2 was the only disease that could be cured with a regular coke and a pizza.  I turns out that this is not the case.  I was not in carb deficit.  I was being given carbs via IV.  Still, the breakdown continued.  I'm awaiting my third test and praying that it has stopped rising.

What does this mean?

It means that there are outlier episodes where the normal steps are ineffective in preventing onset or stopping progression.  It also means I'm going to research this more, because at the moment it is a bit scary to feel like I'm starting over with my understanding of CPT2.


Thursday, November 10, 2016

It finally happened -- An illness that stopped me from eating

I suppose it was only a matter of time.  I've been highly susceptible to strep throat my entire life.  I was scheduled to have my tonsils removed, but given the malignent hyperthermia risk with anesthetic for CPT2 patients, that surgery never got scheduled.

I was set to spend election week in Vancouver, Canada with my family.  I started having throat pain a few days before we left, but I got on antibiotics and was sure I would be ok.  I wasn't.  Soon enough, the strep had caused lesions on my tonsils.

A quick word about the Canadian health care system:  Even if you are a cash-pay patient, it is way cheaper than in the US, and the quality was great.  I know this because I visitied a doctor here to change my medication, as I was pretty sure the antibiotic I was on wasn't effective against strep.  They switched me to a new antibiotic.

Soon enough, the my lesions were healing.  I'm still feverish and symptomatic, but on the mend.

With that as the background, here is the CPT2 issue:  I couldn't eat.  Literally, even swallowing water triggered my gag reflex.  When there are lesions on your tonsils, your brain freaks out and thinks each lesion is a piece of food ready to choke you.

As a result, I had two CPT2 episodes.  Remember that fever (check) and illness (check) are triggers.  Lack of carbs is the major trigger (check).

What was the solution?  Well, it gets complicated.  Normal anti-nausea medications are off the table for me since promethazine causes me to develop permanent dyskenesia.

Sounds like check-mate, right?  I can't eat because I have nausea.  I can't treat the nausea because the treatments expose me to unacceptable side effects.

It wasn't check-mate.  My life was saved by medical marijuana.  A very small amount of Indica (a strain called "BC chemo" bred to suppress nausea) was enough to override the nausea and let me eat.  Both times I had muscle breakdown, I was able to reverse it quickly with BC chemo.  The alternative would have been being hospitalized and being fed through a stomach tube or intravenous drip.

I still feel bad.  I'm still sick.  But my muscle disorder is under control.

Monday, October 31, 2016

Insurance Companies Don't Understand CPT2

I've been fighting to get coverage of Praluent, a cholesterol control medication that doesn't trigger rhabdomyolysis episodes in CPT2 patients.  Statins, by contrast, put me in the hospital.

Anthem Blue Cross (California) refuses this coverage, preferring (whether expressly or simply as a result of a poorly designed policy) to pay for another hospitalization (the last one cost more than a lifetime of Praluent would have cost).

Please add in the comments section your own experiences with insurance companies insisting that you do things that are contraindicated in CPT2 patients.  Please include the name and state of the insurance company.  Good experiences, bad experiences, and neutral experiences are all welcome in the comments.

It is open enrollment season, and the more data the better.