I want to help people improve their metabolic health on their own without surgery or medication. What if they have a chronic health condition? Is it possible to improve metabolism with a chronic condition like mitochondrial disease? My three year documented experience suggests it is possible, because it happened for me.
Myocolonic Epilepsy and Ragged Red Fibre (MERRF) is a rare genetic disorder of the mitochondrial DNA. It’s passed strictly from mothers to children. My daughter died in 1997 from MERRF related histiocytoid cardiomyopathy at the age of ten months. Because Mitochondrial disease was an emerging field of study at the time, my daughter’s diagnosis was not made until after her death.
For most of life, I was active and a healthy weight with no apparent health concerns. I exercised regularly and ate according to the Canada Food Guidelines as best I could. In 2010, I was diagnosed with MERRF, but was largely asymptomatic until 2012. My diagnosis was based on blood and urine samples which reported heteroplasmic load factors of 75% and 86% respectively. In July 2014, when my multiple lipomas began to interfere with my breathing and sleeping ,I was further diagnosed with multiple symmetric lipomatosis (MSL). I have an adult son who is asymptomatic at this time.
I have six brothers and sisters of the same parentage, all with children. We all carry the MERRF mutation but present with varying degrees of severity. Some of my siblings also present with MSL, although my presentation of MSL was the most severe. For a time, I was able to ignore the growth of the lipomas over my neck and back. It was socially difficult but not a medical concern. I told myself I could live with it. When I entered menopause, the lipomas began to grow rapidly and began interfering with my quality of life, I knew I needed to do something.
The Intervention and Crisis
In October 2016, I underwent surgery to remove a significant MSL related lipoma (3 kg) from the top of my back. About three weeks following surgery, I experienced a metabolic crisis. My body was failing and could not produce enough energy to meet my daily needs beyond keeping me alive. I could not make my bed or walk up the stairs in my home without rest. Pushing a vacuum cleaner across the floor or a loaded Costco cart when buying groceries was beyond my ability. I could not keep my arms above my head long enough to shampoo my hair.
My then almost adult son took over most of the meal preparation in our home and I ordered the groceries online. Aside from medical appointments, I was essentially housebound and I was an absolute mess. My metabolism could no longer sustain my expected quality of life and I was in deep trouble. I knew if I was going to survive, I had to somehow improve my metabolism, even while living with a chronic condition. My life depended on it.
Hitting Rock Bottom
I needed to survive my medical situation from both a functional and psychological perspective. I was not managing this sudden change to my health well and I began working with a psychologist. A sub clinical adjustment disorder along with a short lived mixed anxiety and depression diagnosis was added to my growing list of health concerns. Although not serious enough to warrant medication, my mental health diagnoses felt like yet another burden. Who wouldn’t be depressed at their changed circumstance?
Financially, and with the support of my medical team at the Adult Metabolic Diseases Clinic, I was able to transition from short term to long term disability. So I was stable financially, but beyond that, I really had no idea about how to plan my life going forward. Nobody could tell me anything. My primary care physician said that she was not qualified and referred me to the specialist. My specialist said that there was no ability to predict my health outcome. As there was no cure and no therapy, he suggested a wait and see approach. As an educated and independent woman, this was a very difficult and stressful time for me.
I waited for six months. My medical condition persisted in that I continued to experience debilitating fatigue and exercise intolerance, even while the remaining lipomas continued to grow at an alarming rate. I understood from my medical team that I had a permanent, progressive disability and that I would never be able to return to my previous employment. Additional surgery was my only option for the lipomas and this was completely unacceptable for me. My body would not tolerate it and I knew I needed an alternative that met my needs better. I realized that there might be some things I could do on my own to improve my metabolism, even with a chronic condition.
Resolve and Research
Once resolved to find my own path forward, my research quickly became my full time job. Despite my health status, my brain still worked. I have a university degree so I understood the concept of research, just not from a science approach. My arts degrees were in Political Science, History and Liberal Arts. As a professional family mediator, my skills in conflict resolution were particularly helpful on this journey. I used conflict resolution tools to manage some predictable differences that arose between myself and the medical team. I think these skills protected the relationship and allowed this learning to come forward. The learning from this collaboration may even contribute to the larger learning within the field of mitochondrial disease research. Who knows?
Sources: Evidence Based
I am indiscriminate in my approach to research given the medical options for my condition are so limited. I will take a good idea anywhere I can find it and will read anything and everything. That is not to say that I agree with everything I come across but I will always consider it. I am confident my critical analysis skills will guide me in a reasonable direction and will help me to sort through reputable sources.
To date, I currently have over 600 science based research articles and over two dozen books in my bibliography. I became a science researcher by necessity. Two upper level kinesiology courses at a local university helped add discipline to my research.
- Stephen Phinney (Keto)
- Gary Taubes (Keto),
- Timothy Noakes,(Keto)
- Jason Fung, (IF)
- Nina Teicholz (Lipid Heart Hypothesis)
- Zoe Harcombe (Keto)
- David Volker (Keto)
- Andreas Eenfeldt (Keto)
- Valter Luongo (Intermittent fasting)
- Thomas Seyfried (Cancer)
- Dominic D’agostino (Keto)
- Robert Lustig (Keto)
- Gary Fettke (Keto)
- Benjamin Bikman (Lipid metabolism)
- Paul Bruckner (Keto)
- Dave Unwin (Diabetes)
- Alseem Maholtra (Statins)
- Mark Mattson (IF)
These are mostly published researchers and medical doctors. Gary Taubes is a physicist, published author and a science journalist. Nina Teicholz is a science researcher, a science journalist, a published author and has published in the British Medical Journal.
Evidence : Community and Patient Based
I subscribe to numerous youtube channels, and listen to many podcasts across many social platforms. Reddit provides community support and new ideas which may not yet have reached the standard of evidence based medicine. It’s grown from just over 250,000 subscribers in May 2016 to over 1.5 million in July 2019. Reddit can sometimes offer practical alternative therapies. There are many physicians, nurses and dietitians who follow a nutritional approach to health and are active on Reddit. The reality for me is I may not live long enough for evidence based medicine to catch up so I’m willing to take that risk. I need to find a way to improve my metabolism now , even while I’m living with a chronic condition.
- reddit/intermittent fasting
My working theory
The plan I came up with in May 2017 was this. Given that I am unable to change the defect in my mitochondrial DNA, could I improve my metabolism, even with a chronic condition, by manipulating the epigenetic levers that I can control? Could I obtain a metabolic advantage by implementing lifestyle changes that are generally thought to improve health? What was the risk? What was the potential reward?
My research helped me to identify five modifiable lifestyle interventions that I might be able to use in an effort to improve my health. These levers are diet, the timing of nutrient intake, exercise, meditation and sleep hygiene.
Developing the strategy
My hope was that by starting with a ketogenic diet, I would be able to lose weight without exercise and this would reduce my insulin resistance and perhaps reverse my prediabetic condition. Keto might also have an impact on the growth of my lipomas. My weight loss would then allow me to gradually introduce exercise which could then potentially stimulate mitochondrial biogenesis through the recruitment of satellite cells. There is a possibility that the satellite cells may not carry the mtDNA defect and are selective to wild type over mutant mitochondria in these satellite cells. The introduction of intermittent fasting would promote the normal biological process of mitophagy which would allow the recycling of dysfunctional mitochondria and other damaged cellular structures. The addition of meditation and subsequent improvement of my sleep hygiene would help reduce the psychological stress inherent to living with a chronic disease.
The Ketogenic diet
I use the My Fitness Pal App to track my diet and have entered my diet daily for almost three years. Initially, I followed a strict 4:1 diet from May 16th, 2017 and until November 16th, 2017 when I reached maintenance weight of 130 pounds (58kg). I use the macro calculator from the reddit keto community to establish and adjust my macro nutrients. I adjusted my macros several times over the study time, using the same calculator, based on my changing weight loss and activity levels:
In May 2017 my macros were
- 1,400 kc
- 20 grams or less carbs (net of fiber)
- 80 grams protein
- 97 grams fat or to saity
In November 2017 my macros were
- 1,525 kc
- 25 grams or less carbs (net of fiber)
- 83 grams protein
- 121 grams fat or to saity
In July 2018 my macros were
- 1,679 kc
- 35 grams or less carbs (net of fiber)
- 81 grams protein
- 157 grams fat or to saity
In January 2019 my macros were
- 1,806 kc
- 35 grams or less carbs (net of fiber)
- 110 grams protein
- 130 grams fat or to saity
Preparation for Keto
Before I embarked on my program, I cleared out my refrigerator and pantry of all flours, starches, pasta, cereals, rice, trans fat products, dried fruit and lentils. I gave them all away to a neighbour in need. I then made a very intentional shopping list and scouted Keto resources in my community. There weren’t many. I went on line to research keto options for standard recipes in our home. The ketogenic diet resource and the Diet Doctor website were helpful, as was the subreddit r/ketorecipes. In short, I had to do my own research about how to make Keto work for me. My son, who eats what I cook was also carried along by this change, although he does not follow it as strictly as I do.
What I eat
I eat full fat whole foods prepared at home for the most part. Most meals are centred around proteins and non-starchy vegetables. Because I am an older female that does high intensity interval training, I need more protein than most. Think chicken with skin on, lots of fatty meats, bacon, preserved meats, salmon and tuna, eggs, butter, olive oil, hard cheeses and other fermented dairy products like yogurt and kefir for gut health. As long as it fits within my macros, I can eat limited quantities of berries. Most of my vegetables are in the form of leafy greens with cauliflower, broccoli, cabbage, mushrooms and spinach in the top five. I eat mixed nuts and natural nut butters. Dark chocolate is one of my favourite treats and I make sure I have enough macros left at the end of the day to indulge once in a while.
In short, my experience with eating low carb is that it is a very luxurious way of eating and I do not feel deprived in the least. I eat very intentionally, and use a kitchen scale for accuracy in measurement. Each and every bite of food is savoured, and I am still amazed at how my palate has shifted since I started. I don’t crave any particular food. I do not smoke and I do not drink alcohol, but I could, even while low carb. There is almost no food that is forbidden on a keto diet; and as long as something fits within the macros, it can be accommodated. All of my carb calculations are done net of fiber for the individual food item.
Time Restricted Feeding
I eat when I feel hungry. From May 16 until August 2017, I ate without a time restriction but within the Keto framework and macros. On August 16th, 2017, I began an intermittent fasting (IF) protocol of 16:8 that is; I ate in an eight hour window each day and fasted for the other 16 hours. This simply meant that I skipped an early breakfast and ate between 10 and six PM. I still consumed the same daily calories but just within a restricted window. The writings of Dr. Jason Fung has been very helpful to me on this subject. My body has become accustomed to getting all it’s daily needs within a short period of time, and so now my hunger happens around that time.
Over time, my body has become adapted and I find that I can go extended periods of time without food and without discomfort. My feeding window has not been consistent because I listen to my hunger signals very carefully. Since a low carb diet has a dampening effect on hunger, I am able to comfortably sustain longer periods of time in a fasted state . Currently, I follow a 20:4 fasting protocol which means I eat from about 1 PM to 5PM daily. On some days, I eat one meal a day (OMAD) and have done several extended water fasts of up to 72 hours. My eating window is now more of a floating feeding window. Incredibly flexible, and well tolerated, it can easily adapt to any social or professional situation.
One of the most fascinating aspects about adopting an IF protocol is the mental acuity I have gained. I am more alert, motivated, productive and focused. I can enter a creative flow state easily and sustain it for longer. In fact, I now prefer to do the majority of my mental work in a fasted state for this reason. I learn quicker and more easily while fasted. My mood is more stable while fasted. When I enter my feeding window, I can almost feel a down shift in my body energy. I also notice a similar energy advantage when I exercise fasted, and a distinct exercise disadvantage when I attempt to exercise in a fed state.
I began a total body exercise program with a physiotherapist in August, 2017. My clinic asked that I work with a physiotherapist initially. I attended twice weekly 30 minute sessions under her supervision and an additional session using the same program at a community gym on my own. After five months of supervised exercise, I transitioned into a full gym under the supervision of a personal trainer. The goal of exercise for me was to improve strength and conditioning and eventually progress into a weightlifting program. I had a CPX test done in December of 2017 which came back completely normal.
Today, I work out three days a week at the community gym for two and a half hours each session. A professional kinesiologist sets my program. I enter in my results each week and update him on any issues. I follow an HIIT program and focus on strength and conditioning as well as agility and plyometric exercises. After two years of working together, I am now considered an intermediate power lifter. Who could have imagined?
I think that the role of guided meditation has been very significant in my health recovery. Meditation has allowed me to better manage all other aspects of my recovery. It supports my resiliency in the inherent stress of living with a chronic condition. It is the primary means by which I maintain my mental health. I currently meditate on average about three to four times a week for about thirty minutes each session. Yoga Nidra is my preferred practice and I use an app called Insight Timer. I can just put it on prior to falling asleep and then I don’t need to set aside a special time to meditate. I just fall asleep easier.
The Sleep Cycle App has collected all my sleep data for over 900 days. There are a lot of different apps out there, this is just the one I use. I use this app to track for sleep apnea and have to monitor quality of sleep. Good quality sleep is a priority in my life and meditation supports my sleep. Early to bed, usually by 9 PM, I will read or meditate until I feel ready for sleep. Five or six hours of sleep are generally all I need to feel refreshed. This has been my pattern for over 900 days. If I am stressed, my sleep quality suffers, and then my mediation time goes up.
I usually wake between 5 and 6 AM most days without an alarm. I will head straight out if it’s a gym day. Otherwise, I will do some reading or writing and can usually squeeze in a couple of hours of flow before I go to work. Lately, I’ve been spending a lot of time on website development. Jet lag and daylight savings time can really interfere with my circadian rhythm and i have found it takes me a longer than usual time to recover.
Based only on my own experience, I believe that the cumulative effect of the standard American diet damaged my metabolic health. I believe that it lowered the threshold of expression for my mitochondrial disease. The adoption of a very low carbohydrate diet restrained some of the predicted progressions of my disease. It may even slow down the emergence of others. At a minimum, it seems to have raised the threshold of expression. I learned how to improve my metabolic health, even while living with a chronic condition and you can too.