PMD: my gateway disease
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I was first introduced to mitochondria in high school, but I never paid much attention to them. To be fair, I didn't pay much attention to any science at that point in my life, so I didn't give anything a second thought after the exam.
Eventually, things changed, and I took premed classes in college. Even then, it always seemed like the mitochondria were just mentioned as an afterthought. Every professor would say the same thing, "they are the powerhouse of the cell." After a while, I started tuning it out, and it became less significant.
Then, I started PA school and learned about the infamous Kreb cycle. It was a nightmare for every student. Most of us didn't aim to truly understand the intricacies but rather to know how to answer exam questions. After all, when would we use this in practice?
Fast forward 13 years, and I now know more about mitochondria than I ever thought. What's fascinating (or alarming, depending on your perspective) is that most physicians and researchers have dismissed this powerful organelle.
We have only started to uncover the extent of the mitochondria's responsibilities in recent years. They play a key role in anti-aging, longevity, regenerative medicine, and functional medicine. Unfortunately, none of these fields are recognized as specialties by the AMA. Here's a statement from Wikipedia regarding functional medicine:
"Functional medicine is a form of alternative medicine that encompasses a number of unproven and disproven methods and treatments. Its proponents claim that it focuses on the 'root causes' of diseases based on interactions between the environment and the gastrointestinal, endocrine, and immune systems to develop 'individualized treatment plans.' It has been described as pseudoscience, quackery, and essentially a rebranding of complementary and alternative medicine.
In the United States, functional medicine practices have been ruled ineligible for course credits by the American Academy of Family Physicians due to concerns that they may be harmful."
Here are a few thoughts on why this argument isn't logical:
Everything starts out as unproven; that's the essence of the scientific method. There have been many examples in medicine that started out as unproven and were initially thought of as pseudoscience (list taken from Peter Attia, M.D):
Dr. Semmelweis who insisted that physicians wash their hands when going from the morgue to the delivery room.
Dr. Barry Marshall, who had to infect himself w/H. Pylori before anyone would believe that a simple antibiotic, without surgery, could cure ulcers
Dr. Judah Folkman, who discovered tumor angiogenesis, was derided before his theory was proven. Before his death he wrote the insightful essay “Cancer without Disease”.
Dr. Lucien Israel’s idea of cancer combination therapy, DESPITE its effectiveness, was scoffed at by other oncologists who insisted that this life-extending therapy wasn’t scientific enough (“we won’t know which agent worked”). Indeed, saving lives is very much an art as well as a science.
Legitimate treatment options are constantly disproven. The most recent example is phenylephrine. According to Medscape, the FDA panel in 2023 unanimously deemed it ineffective. The pharmacology and clinical data review found that the drug's oral bioavailability is less than 1%, compared to the often-cited 38% based on outdated technology. The original studies supporting the efficacy of phenylephrine were inconclusive and had potential methodological, statistical, and data integrity issues.
The fact that functional medicine practices may be harmful isn't unique to this field. Every treatment option has the potential for harm. For example, our daughter recently developed drug-induced lupus from two medications that were deemed "safe" for the treatment of immune thrombocytopenia. However, I'm not going to blame the entire field of hematology for this.
This is why it's important to keep learning with an open mind.
We are lifelong students in a field where we've only scratched the surface. It would be arrogant to think we know everything.
In addition to immune thrombocytopenia and drug-induced lupus, our daughter also has a primary mitochondrial disease (PMD). Truth be told, if it weren't for her, I don't think I would have continued my education in the direction it's currently headed.
It took something I love more than life itself to educate myself on the many things I was ignorant of. But, this seems to be the case for many clinicians who have transitioned to these areas of medicine. Many physicians who challenge the current medical model have struggled themselves or have loved ones who have struggled to find answers within their current training.
The love for another human being is a strong driving force. I can personally attest to that.
However, this doesn't mean we should reject everything associated we’ve learned. I don’t want to throw the baby out with the bathwater. Instead, I believe we should stack the knowledge and not take sides as to who's right or wrong.
Truth be told, everyone is right and wrong every single day. And that's okay. That's what it means to be human.
My goal is to share what I'm learning so you can add this to your current knowledge base. Every intervention we have in place for our daughter wasn't taught in medical school, residency, or fellowship. Our daughter's clinical care team (which I am 100% a part of, LOL) has continued their education. They have kept an open mind in order to advance medicine.
Here's a tentative outline of what I plan to share:
Mitochondrial disease and dysfunction (primary vs. secondary) and their role in disease
My current thoughts on autoimmune disease
Our experience using sirolimus (rapamycin) for our daughter's mitochondrial and autoimmune disease
Nutrition and supplements: why most studies are poorly designed and why double-blinded randomized controlled trials are not feasible
My current outlook on nutrition and supplements and the changes we've made in our home (which have been significant)
Please let me know in the comments if you have any thoughts, insights, or resources you think I should check out. Similarly, if you have any questions or topics you'd like me to address, feel free to comment. Talk to you soon!