How did I get here?

You know when you plan to have children, no matter what age you are, and you think, "I don't care if I have a boy or girl, as long as it is healthy"?  I felt that way and up until a year and a half ago, thought I had managed to do just that.  I have three incredible, beautiful children.  At the time I write this, they are 8, 10 and 15.  They are the light of my life, the apples of my eye.  They bring joy and happiness to all who meet them.  And yes, I include my teenage son in that description!  He is an amazing boy; all three children are great.  We have our challenges though.

My two younger children, Michael (8) and Ariella (10) have been diagnosed with something called CPT 2 deficiency.  That stands for Carnitine palmitoyltransferase type 2 deficiency.  So...what is that?  Well, how much do you remember from Biology or Anatomy & Physiology with the anatomy and function of the cell?

Mitochondria are the furnaces of the cell.  They take broken down pieces from our food and turn them into energy, called ATP.  On the mitochondrial cell membranes there are two enzymes responsible for transporting long chain triglycerides (fat) into the cells.  One is CPT 1, found on the outer cell membrane, the other is CPT 2, found on the inner cell membrane.  In the process of entering the cell, CPT 1 and CPT 2 convert long chain triglycerides into medium chain triglycerides.  When one of these enzymes is lacking, this function cannot happen, making the long chain fats useless for energy.  So, if a person with CPT 2 deficiency has a higher fat diet, that fat can't be used for energy as it cannot be broken down.  This is important when you are physically active.  Remember all that talk about aerobic activity and getting into your 'fat burning zone' when you are working out?  With CPT 2 deficiency, you can't do that.  So what does the mitochondria break down if it can't break down fat?  Muscle tissue.  Yup, the body goes after the muscle instead of the stored fat.  That's where the trouble starts.  When your muscle tissue gets broken down, it causes a lot of pain.  That's the first sign with my kids that something is up.  If the breakdown continues, other things can happen.  A high amount of protein breaking down and getting filtered through the kidneys into the urine causes more problems.  The kidneys can't handle all that protein filtering through at such a high concentration and they can fail.  I don't know about you but I think avoiding kidney failure is a good thing.

So what do we do for them?  They are on a low fat, high carbohydrate diet at a ratio of 20/70 with 10 percent remaining for protein intake.  This diet ensures that their blood sugar remains at a level where the body has enough to burn for energy.  Now, we can supplement medium chain fats into their diet via MCT oil  (derived from coconut oil).  I also use more coconut oil in cooking as well as butter. Both of these fat sources are around 50% medium chain fat.  Yeah, yeah, they're saturated, but for these kids, they're also the best fat they can eat.

This is a highly simplified version of the disorder, which is a genetic disease.  It is considered an autosomal recessive disease.  More on that another time.  My kiddos are wanting breakfast right now so I'm off to fix something for them!  Michael wants PB & J.  I make it with one tablespoon of peanut butter so he can feel like a regular kid and isn't completely deprived of his favorite things.  :)