Our family is finally stabilizing
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It’s been 5 months since I published my daughter's whole genome results. This opened Pandora's box as this was not a de novo mutation. Chloe's mitochondrial mutation is maternally inherited, which means my wife and her family all carry the same gene mutation.
We started this journey 16 months ago when she was first admitted for thrombocytopenia. It has been a whirlwind of a journey, to say the least, and I feel we have reached another milestone in her care. As I sit and reflect on everything that has happened, I have gained a new perspective on medicine.
As I navigate various healthcare systems, I see glaring gaps that must be filled to provide the proper care we all deserve. Sometimes, I feel like I’m the only person who sees these gaps. But, perhaps only a few of us who get the privilege of experiencing medicine as both provider and patient will ever see it.
I use the word privilege with intention. Not to say that disease is positive. But disease has an interesting way of creating appreciation you couldn’t otherwise experience. It’s also a strong motivator to dig deep and question a long-standing system like medicine.
I have always believed we should question why things are as they are. This journey has been a real-world test to exercise everything I’ve been learning over the years. But, no matter how hard you practice, you can’t always be fully prepared for what’s to happen come game time. The good news is the more you play the game, the better you become.
In the midst of this, I had a fellow Medgeeks community member reach out who was also diagnosed with primary mitochondrial disease. This clinician suffered for a couple of years before finally finding the right doctor to help.
After reading their story, I cried for 30 minutes.
I was angry that they were told there was no cure and nothing could be done. I was sad that a clinician (who helps people for a living) was told there was no way of being helped. I felt their pain as if it were my child’s pain. Even though I’ve never met this person, it shook me for the entire day.
Over the last few weeks, our family has stabilized. We are finally at a place where we feel comfortable with the care she is receiving. However, we didn’t get here by following a generic algorithm that every patient is forced to follow predicated on double-blind, placebo-controlled randomized trials. Instead, we used that as our base. Because my wife and I knew how to think about problems, we were able to question many decisions that were being made by our care team.
To be clear, I’m not upset, and I don’t blame them. I fully understand why they do what they do. In fact, I have fallen even more in love with medicine (as a profession). I see how much room there is for improvement, and this gives me purpose. Now that we are in a better place, I plan to do a lot more writing; I’ll share my experiences so you can think differently and provide better care for the patients who need it.
In the next post, I’ll update you on where we stand in Chloe's workup and treatment and the lessons learned.
Before I end this, I’m curious how many truly don’t know our mitochondria's role in disease. Who here isn’t familiar with primary mitochondrial disease? I’d love to get a baseline, as this truly impacts the health of every individual, not just those with a mitochondrial mutation.
If you’re reading this, know that I appreciate you. If you have any questions you’d like me to answer in the next post, just comment here, and I’ll include my thoughts.