So much has happened since the last article I published. This will serve as a quick update on what's transpired and for things to come.
I last shared how I want to publish the book I've been writing for free on Substack and record the audio version as part of this podcast. After much deliberation, I changed directions and will post the first few chapters for free inside the Medgeeks community.
The community we are building allows me to create the structure and format I want. I wanted to publish this in a way that allowed me to go back and edit as I please; I want this to be a living, breathing document. Eventually, this will be a complete body of work with a start and finish.
The original intentions behind Substack and this podcast were to share my thoughts on various things in medicine and life (hence the title). Publishing the book here doesn't fit the format (even if the topics are related).
So, if you want to access the first draft, please head to community.medgeeks.co. It's free to join if you don't have an account. You'll notice a new space in the left-hand menu titled "[Free Access] Upcoming Book."
It's been exactly one month since I last published an episode, and a lot has transpired, preventing me from hopping on:
Chloe got sick, followed by my wife and later myself. I then lost my voice for a few days, making it hard to record a podcast.
Our Medgeeks office lease ended, so we had to pack furniture, paint walls, and clean up. We'll be doing a final walkthrough this coming week. We've been there five years, so it's sad to say goodbye. But, the team has been working from home, which makes it hard to justify the monthly rent.
We moved all our Medgeeks clinical courses and community onto a new platform, Circle. It has been an enormous undertaking, and we are still in the midst of the migration as we ensure our members can log in and access all prior course material. But, this new platform will allow our members to interact with our clinical staff and support seamlessly. It also allows me to host free material easily, like my book chapters.
If you go to community.medgeeks.co, you'll also notice I've copied over all the Substack posts into that community. If you're already reading my posts on Substack, don't worry; I'll still publish articles and podcasts on Substack, should you like that platform best. But, for those of you already inside the community, this will allow you to read and listen to any updates from the website/app you're already a member of.
Last but not least, my wife and I received the results of Chloe's whole genome test. The results have rocked our world, and the diagnosis was something no one saw coming.
Chloe has been diagnosed with a mitochondrial mutation located on the MT-TL1 gene with the variant m.3243A>g. This is more commonly known as the MELAS gene, which stands for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. It's a misnomer, as MELAS is a clinical syndrome, not a genetic diagnosis, and doesn't occur in everyone with this mutation.
Because this is a mitochondrial mutation, this can only be inherited from the mom and happens 100% of the time. Unfortunately, this also means my wife is affected, and her sisters, mother, maternal aunts, etc., all have the mutated gene.
Although it's not characteristic for this mutation to lead to thrombocytopenia and various other antibodies, it's not impossible as it can affect any part of the body, and the phenotype can vary dramatically among family members. Because the problem is happening at the cellular level during embryonic development, any organ can be affected.
I just finished a lecture from an immunologist with a special interest in mitochondrial disease, and he shared how the immune system is involved. Some patients may present with a primary immune deficiency or some form of immune dysfunction. Although it's not a typical presentation, thrombocytopenia has been reported.
Side note: propofol affects mitochondria metabolism and can lead to respiratory distress in patients with this mutation. If you read one of my earlier posts, you'll remember Chloe stopped breathing after propofol administration during her bone marrow biopsy. Now we know why.
But, predicting the clinical course of this mutation is incredibly complex and has yet to be fully understood. The segregation of mtDNA variants leads to different levels of mtDNA within tissues and even the cells of a given tissue.
It's believed that the higher the level in a given tissue, the higher the likelihood of symptom appearance. The threshold differs between variants and between tissues. Because it's tissue-specific, we can't go based on the mtDNA percentage in Chloe's blood sample (although she had an incredibly high number). The only way to see the heteroplasmy number (percentage of mutated DNA compared to the wild type) is by biopsying the tissue. But, as you can imagine, a biopsy of the brain, heart, etc., is not a practical strategy. But, checking the urine and muscle (biopsy) for levels is recommended.
With that said, levels between any of these can change daily, making it incredibly difficult to predict the course of the disease.
The area of mitochondrial medicine is incredibly new. There's so much research showing how many diseases we once thought of as separate entities could be symptoms of one primary underlying disease: mitochondrial mutation.
There is no cure for this, and we mainly have nutrition, exercise, and supplements to try and mitigate the adverse effects. We'll return to basics to help Chloe live a long, healthy life.
But, then again, isn't most disease prevention done this way?
Mitochondrial mutation or not, everyone should strive to live healthier. After all, who's to say that a patient who tragically died at a young age didn't have this disease? It's impossible to know as the technology for genetic testing is relatively new. The entire genome was sequenced only 20 years back.
It's only recently that genetic testing even became affordable for people. Only some people will do this even now, as it costs $4,000 for whole genome sequencing and about $2,000 for whole exome sequencing (although whole exome can miss mitochondrial mutation). In my case, the whole exome is covered by insurance, but the whole genome is not. We're in new territory with all this.
In fact, there are only three mitochondrial centers in all of California, one of which is at UCSD. We'll be making an appointment with Dr. Richard Haas, one of the leaders in this field.
I'll share more in future podcasts as I continue to learn, as this will help you and your patients get back to basics.
Chloe has changed my life and taught me more in one year than all my 35 years combined. I hope to share these lessons with you so that everything she goes through isn't in vain.
Take care of yourself, and don't take for granted the life you have. Live every moment with the appreciation you would have as if it were your last. Express your gratitude and appreciation for those you love. Spend time and make memories today; don't wait for later, as it's never guaranteed.
Until next time.
Whole genome results