A month ago I promised I would explain CPT2 and then I realized I didn’t know how to explain it.
Let me tell you what Wikipedia says “Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic. ”
I have adult-onset CPT2 and this is what Wikipedia says “This exclusively myopathic form is the most prevalent and least severe phenotypic presentation of this disorder. Characteristic signs and symptoms include rhabdomyolysis (the breakdown of muscle fibers and subsequent release of myoglobin), myoglobinuria, recurrent muscle pain, and weakness. The myoglobin release causes the urine to be red or brown and is indicatory of damage to the damage being done to the kidneys which ultimately could result in kidney failure. Muscle weakness and pain typically resolves within hours to days, and patients appear clinically normal in the intervening periods between attacks. Symptoms are most often exercise-induced, but fasting, a high-fat diet, exposure to cold temperature, sleep deprivation, or infection (especially febrile illness) can also provoke this metabolic myopathy. In a minority of cases, disease severity can be exacerbated by three life-threatening complications resulting from persistent rhabdomyolysis: acute kidney failure, respiratory insufficiency, and episodic abnormal heart rhythms. Severe forms may have continual pain from general life activity. The adult form has a variable age of onset. The first appearance of symptoms usually occurs between 6 and 20 years of age but has been documented in patients as young as 8 months as well as in adults over the age of 50. Roughly 80% cases reported to date have been male. ”
Sounds scary crazy right? It is. I would love to say life is great but it’s really not. I have great days and then I have days where I’m still begging God to just let me die. The pain is so intense. The muscle weakness has been crazy for the past two weeks. One day I was drinking a cup of tea and I ended up with it in my lap. Most days I drink everything with a straw because it just makes life easier and I don’t like to wear my beverages lol
They implanted a port into my chest so it’s easier for me to do my IV hydration and vitamin infusions. Not sure if this is a good thing or bad thing because it hurts like hell and I’m always scared it’ll get infected.
It’s also mentally draining on me knowing I can’t do my yoga and hiking as much as I really want to. Of course, when I get upset about that it brings on a CPT2 episode. It’s a vicious cycle.
WOW this sounds like a sad and depressing post so let’s change the subject because I really don’t want this whole website to just be about my CPT2.
Let’s talk about my diet…………. I’m 100% whole food plant-based now. I’ve been vegan for years but I was more of a junk food vegan. I’m really loving it. It takes some more time to meal prep but the benefits are so worth it. I think I’ll start posting pictures of my daily meals and recipes I love. High carb, low fat really is what my body loves.
Ok, sweet souls, I need to cut this short. I promise I’ll start posting more. I love y’all so much and again thank you, so much for all the love and support. It really gets me through the bad days.
I’ll leave you with the mantra that is getting me through all this is……..
“There is the mud, and there is the lotus that grows out of the mud. We need the mud in order to make the lotus.” – Thich Nhat Hanh
When I’m in pain or having a rough day I just repeat it over and over and it helps.