My Adventures in Neuroscience Part 3: Answers!

 

Regular readers or those who know me personally might remember that for the past few years I have been on an odyssey to diagnose and treat a mystery neurological/neuromuscular disorder. I’ve chronicled that adventure here, here and here previously. I’ve periodically shared this information publicly for a few reasons:

1. Because of the impact on my travel and event participation (folks wanted to know why I disappeared).
2. Because I know many, meany people who have asked me for updates so this is an efficient way to do that.
3. Because I find it simpler to live my life, professionally and personally, as a bit of an “open book”.

In 2016 my journey took me to The Mayo Clinic in Rochester, Minnesota for 2 weeks for a battery of tests and consultations with various specialists and finally…..we have answers!

A full nuclear DNA analysis discovered that I have a  heterozygous novel variant in the ADCK3 gene. Defects in this gene have been associated with autosomal recessive coenzyme Q10 deficiency.  A follow up analysis of muscle tissue confirmed that indeed, I have a coenzyme Q10 deficiency.

That has been the cause of all of my symptoms, and the good news is that it is highly treatable!

What is CoQ10? According to the National Institute of Health:

Coenzyme Q or ubiquinone is a lipophilic molecule present in all tissues and cells that is located mainly in the inner mitochondrial membrane. It is composed of a redox active benzoquinone ring conjugated to an isoprenoid chain. The length of the chain differs among species; in humans, ubiquinone contains predominantly 10 isoprenyl units and is designated CoQ₁₀. CoQ shuttles electrons from complex I and II to complex III of the mitochondrial respiratory chain; it also functions as a lipid-soluble antioxidant, scavenges oxygen reactive species, and is involved in multiple aspects of cellular metabolism [Turunen et al., 2004].

In simpler terms, the site CoQ10 Deficiency has this to say:

Coenzyme Q10 is a substance naturally produced within every cell of the body that works with cellular mitochondria to produce Adensonine Triphosphate (ATP), the chemical compound that provides the energy for every action by every cell, tissue, and organ in the body.

It has several other beneficial effects on the body, as well.  This multi-faceted coenzyme works as an antioxidant, clearing the body of harmful free-radicals that play a role in aging, and it plays a role in blood clotting.

As we age, our bodies produces less and less, but the demand for cellular energy remains high. This can, over time, lead to the potentially serious condition known as CoQ10 Deficiency. Because it plays such an intricate role in almost every life function, it is vital that everyone, especially those over the age of 40, be aware of the potentially devastating symptoms.

Possible Symptoms of CoQ10 Deficiency include (but is not limited to):

• ataxia
• cardiomyopathy
• cerebellar atrophy
• muscle weakness
• fatigue
• seizures
• kidney failure
• encephalopathy
• learning disabilities
• myoglobinuria
• sensorineural deafness
• myoclonu
• scoliosis
• lactic acidemia
• spasticity
• hyper-reflexes
• weakened eye muscles
• atrophying of muscle tissue

In my case, due to my genetic defect, my body doesn’t produce or process CoQ10 at the needed levels and based on my medical history likely hasn’t for most of my life. The impact of this issue has been getting progressively worse until in my 40’s it began to manifest in a whole host of neuromuscular symptoms including seizures, ataxia, fatigue, muscle weakness, muscle spasticity, nerve conduction issues, eye issues, digestive and respiratory problems and others.

It took the combination of the full nuclear DNA analysis and a subsequent muscle tissue analysis of CoQ10 levels to finally diagnose this issue, although since it’s inception the suspicion has been some kind of mitochondrial disorder, with other tests indicating some kind of mitochondrial disease or neurological disease but no firm diagnosis. It was obvious something was wrong and various tests could capture evidence (while others could not), but until the wonderful team at Mayo did a complete and exhaustive work up I was left with no answers and no treatment plan.

As a result, the last few years have not been fun to say the least: my ability to travel, to speak at events, to drive, to work a regular schedule, to participate in even moderately strenuous activities and in general to be the high functioning and active person I had always been was greatly impaired. Luckily, I work from home and control my own schedule, and have been blessed with a supportive family and business colleagues so I’ve been able to mitigate the impact of these symptoms and adjust my professional and family life to deal with them.

It turns out the treatment is pretty simple: I am taking 800MG of Ubiquinol daily, and as soon as I started this regimen the frequency, severity, and duration of my symptoms declined dramatically to almost (but not quite) being in complete remission. I’ve learned over the past few weeks that I have to keep a steady level of CoQ10 in my system or my symptoms return, and my activity levels may require me to up the dose at times to remain symptom free, but overall the supplement works.

This issue is still classified as a mitochondrial disorder so I am learning a lot about the power plants of our cells and ways to help boost their operations and I sure other lifestyle, diet, and supplemental changes will be needed in order to combat the natural decline in mitochondria function normal in aging that is exacerbated by my own unique genetic makeup and the damage my body has suffered while this went untreated. I recently found a wonderful primer on combating mitochondrial disease produced by the NIH called “A Modern Approach to the Treatment of Mitochondrial Disease” that I would encourage everyone to read since mitochondria function is such an importance aspect of basic health and wellness.

So, what does this mean professionally? Well, the short answer is I don’t know yet.

It’s too soon to assume that I can become a road warrior again, but I do think I may dip my toe in the water of attending more than IIeX North America this year. Maybe I’ll surprise some folks by popping up somewhere: we’ll see.

It’s also probably a safe bet that I’ll become more reliable as a meeting participant (the last few years sudden cancellations were pretty common due to onset of my symptoms) and already I am back to working a full day without needing to break in the afternoons so my bandwidth and productivity are moving back to 2012 levels.

Also, my interest in all things neuro will continue, especially as it relates to the opportunity to augment insights.

But perhaps most pertinent to this post, unless something changes this will likely be the last update. It’s been a rare privilege to have the support of my friends, peers, and colleagues in the industry over the last few years and to be able to share this part of my life publicly. Many people would have valid fears about being open regarding a health issue within their professional circles, and it has been intensely gratifying to know that I did not need to harbor such fears because of the awesomeness of all of you. Thanks for your support, patience, flexibility and prayers.

I’ll end with a plug: CoQ10 is a bit of a wonder supplement and it seems as if it can benefit everybody, not just people with mitochondrial disease. Consider adding it to your daily diet; it can’t hurt and it just may help head off some serious issues! Here is what I take: