How I Found My Health “Super Unlock” After 20 Years of Research and 20,000 Genes Tested
How I Found My Health “Super Unlock” After 20 Years of Research and 20,000 Genes Tested
Each person has one to six highly unique unlocks that will only work for them, and this is how to find them.
House: I need a genetic disease.
Wilson: I’m sure you’re carrying a few.
— House MD, Season 5, Episode 6
Disclaimer: I am not a medical doctor and this is not medical advice.
There are basic things we should all be doing for good health. Eat a nutritious, largely whole-food diet that is adequate in all the macronutrients and micronutrients; maintain a healthy body composition; live an active lifestyle with healthy movement patterns and plenty of outdoor time; get outdoor sunshine in the morning and avoid artificial light at night; include exposure to fire; let our bare skin touch the earth; experience the transitions between hot and cold that nature offers; sleep well; take bites of life only as big as we can chew, but always be taking bites; nourish positive relationships with our family and friends and a positive outlook within ourselves; be mindful of avoiding excessive exposures to the toxins we may encounter; and so on.
I propose herein that most of us have an idiosyncratic portion of what we need for optimal health, and this is far more likely to be driven by the presence of one or more rare metabolic disease genes discoverable only with whole genome sequencing than it is to be driven by common polymorphisms that are accurately tested with services such as 23andMe.
This approach is absolutely not replicated by getting whole genome sequencing and reading the reports.
This approach is absolutely not replicated by getting a NutrEval and having it analyzed by a functional medicine doctor.
Think of it as a completely unique approach to preventing house fires.
Your house keeps catching on fire. Conventional medicine, functional medicine, nutrigenomics, pharmaceutical and supplement companies are serving as the fire fighters, ambulance and cleanup crew. Someone taking a list of 100 supplements is throwing 100 drops of water on the fire.
Finding the 2-3 mutations that are orders of magnitude more important than all others is finding the gas leak and the sparking wire that keep causing the fires.
Specialists in particular inborn errors of metabolism are the electricians who could find the sparking wire or the gas plumbing experts who could find the leak. The problem is that to each expert the wiring looks good enough to prevent a fire, and the piping looks good enough to prevent a fire, and never the right team is present to find the interaction between the two that is bad enough to cause constant fires.
For example, let us briefly consider my own health.
I had a night-and-day transformation between a neurological nightmare on a vegan diet and high-performance stability and sanity on a diet rich in organ meats. While I have known many ex-vegans, I know very few with such radical transformations as mine. I have spent twenty years wondering why this is, until recently, without success.
I have suspected there is something different about me that explains both that and why my neuromuscular health remains so sensitive to stresses:
Why did a single day of the anti-fungal terbinafine taken in 2017 give me the worst twitching I’ve ever had in my life?
Why did six weeks of it produce a twitching problem that no neurologist could diagnose but that I myself could render completely asymptomatic with supplements that I had to maintain for 4.5 years until the problem was gone?
Why did taking eggs and meat out of my diet and replacing them with shellfish for 40 days in early 2022 give me muscular weakness and trouble swallowing that disappeared as soon as I put the eggs and meat back in?
Since 2017, I have occasionally made a deep dive into rare genes and biochemistry to help clients with highly unusual, chronic, intractable health problems. And I had suspected that applying this approach to myself one day could finally explain what seemed so different about me.
Only in the last year have I moved forward to do exactly that. I have identified two rare, riboflavin-responsive mutations in the ACAD9 gene as well as an assortment of genetic assaults on the mitochondrial respiratory chain that perfectly explain everything I’ve described above. These were only discoverable through the analysis of my whole genome sequencing raw data files, and were not discoverable with the other genetic testing I had done.
Most of the past experiences with dietary changes could be explained by variations in my intake of riboflavin, pantothenic acid derivatives, and carnitine. I then leveraged this knowledge to not simply explain past problems but obtain better and better health by addressing the mutations in a targeted way.
Riboflavin supplementation alone has abolished my seasonal allergies, dramatically improved my body composition, and increased my motivation, mental health, productivity, and energy.
I am purposefully experimenting on myself to generate insights that will help others and so I am moving slowly to collect maximal data. I have a plan for the next phase of my experiments that I expect to reverse two decades of chronic discomfort from muscle tension.
As I have realized how responsive my own health is to this approach, I have applied it to more and more of my clients. Here are some of the results I have achieved with this:
One of my clients had been completely unable to have blood drawn in the fasting state and could only have it drawn while laying down or else she would faint. After addressing rare biotin-responsive mutations, she has become more fasting tolerant and just had blood drawn sitting up for the first time in her adult life. We believe she is well on her way to tolerating blood drawn in the fasting state.
One of my clients takes humira for Crohn’s disease but at the cost of neurological side effects. We identified an apparent defect in lysine metabolism. Addressing it appears to have improved her skin and energy levels, and to allow her to tolerate pushing out the monthly humira dose by two weeks without any gastrointestinal side effects. We will be seeing soon if fully addressing this issue can allow her to get off the humira entirely and not worry about neurological problems or gastrointestinal issues.
One of my clients was dealing with insomnia, anxiety, and neuropathy through benzos, SSRIs, and beta-blockers from conventional doctors, through hormonal treatments from functional medicine doctors that worked until they didn’t, and had tried supplementation strategies using phosphatidylserine and inositol that made him tremendously worse. This client came to me for my advice on methylation, but after identifying a problem in complex I of the mitochondrial respiratory chain we identified restricting simple carbs as a major way to achieve the first reduction of symptoms he had experienced in years.
One of my clients with longstanding insomnia responsive only to sleep drugs has achieved months of 7-8 hours of sleep per night through glutathione infusions after we identified an apparent defect in glutathione synthesis.
One of the great drawbacks of applying this approach gradually is the the massive delays in achieving these results. For example, in Energy Metabolism Governs Everything, I posited that a respiratory chain disorder was causing one of my clients to require much higher than normal doses of vitamin A and zinc, was causing paradoxical coexistence of vitamin A deficiency and toxicity symptoms, and was driving her apparent autoimmune condition.
It later turned out that I was right on the money. This client had a complex III disorder traceable to six homozygous mutations in the MT-CYB gene. The whole genome sequencing reports did not report this at all. It was my analysis of the raw data file that found six homozygous mutations that lined up perfectly with a functional test of the respiratory chain.
I had started working with this client in March of 2022 and formed this hypothesis in April of 2023. The time it took her to get the necessary labs run led me to only finally develop an action plan for her this past month.
What caused this delay? The fact that I 1) only pursued rare defects in energy metabolism when all other explanations had been exhausted, and 2) left her on her own to find doctors to sign off on her labs.
Recent research I will review below has shown that everyone has one or two such defects. I show my math below to suggest that each person actually has between one and six nutritionally actionable defects in energy metabolism. This does not mean that everyone is walking around with one to six serious illnesses. It means that everyone has one to six idiosyncrasies of energy metabolism and addressing them for some people will resolve chronic health problems and in other people will simply make them even healthier than they already are.
For some, it is solution to a longstanding problem.
For others, it is the highest-return unlock for maximal wellness, performance, and longevity.
For this reason, I created a program that will start by getting all of the relevant labs ordered for you and will systematically identify the highest-return idiosyncrasies from the beginning, giving you a highly individualized nutrition and supplement plan to address them within 12-14 weeks. You can sign up for a call at bioopthealth.com to see if my new Biochemical Optimization Program is right for you.