You'll have to note that my title is written with a bit of sarcasm, which is something I always have in abundance. With all three of my children, genetics plays a role in their health, as it does for everyone. My CPT 2 kids though, they get to be extra special. CPT 2 deficiency has an autosomal recessive inheritance. What that means is that two people have to be carriers for the deficiency and then both of their carrier genes get passed along to their child, creating the active disease. So in an autosomal recessive pattern, these two children each had a 25% chance of no carrier gene and being completely unaffected. They also had a 50% chance of being a carrier. Then a 25% chance of actually having the disease. And they both have it. I knew we should have bought a Powerball ticket!!! My oldest son has a different biological parent so he has a 25% chance of being a carrier, and a 75% chance of being completely unaffected. (That's assuming that I am only a carrier, which we have yet to determine.)
Now, if there comes a time where you are reading this and feel that maybe you or one of your children may be affected by this incredibly rare illness, fight for the testing. Get it done! Make sure people listen to you. With the brief genetic explanation I've given above, it can be seen that being male or female does not affect your ability to have this disease. There are sex-linked traits out there, like hemophilia and male pattern baldness, but this is NOT one of them. It's a 25% shot, male or female. I say this because one of the first specialists I talked to when I wanted to be tested myself said not to bother because 80% of the people diagnosed were male. And that I shouldn't bother to have my daughter tested either because it was not likely she had it. Well, that doctor was wrong and I knew it then. I am thankful that he wasn't in charge of my children's care and I was able to get my daughter tested! Now both of my CPT 2 kids have a plan in place for emergencies, they have a 504 at school to deal with their health needs and they are adjusting to a low fat, high carb diet. They do get pretty pissy about it when they can't go to McDonald's but that's not the best place for them to be no matter what! They do enjoy what I feed them and I make them chicken nuggets from scratch with panko bread crumbs, MCT oil and seasonings. Then they are baked in the oven so they are nice and crispy and have MUCH less fat. Makes them happy and makes me happier. :)
While this is probably accurate for most people, there are some people who are in the very unusual situation of having a heterozygous gene pair (of the gene primarily responsible for CPT2 deficiency), yet they are symptomatic. I know because I am one of those people. I should be asymptomatic, but I was diagnosed via muscle biopsy, and my CPT2 levels are consistent with somebody who is heterozygous. So I apparently have an unknown second mutation. Dr. Georgirene Vladutiu http://medicine.buffalo.edu/faculty/profile.html?ubit=gdv has done a lot of work on the genetics of CPT2. Unfortunately for me, because the second mutation is on an unknown gene, my daughters will be able to determine if they are carriers for the CPT2 known mutation, but will not be able to know if they carry the second mutation. I knew I should have paid better attention to the genetics portion of biology class.
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