In writing, the idea of "something that changes everything" is often thrown around. These are events that divide a narrative into what came before and everything after. Life loves to be even stranger than fiction.
Several weeks ago, by almost random chance, I learned that my LMNA gene has a typo in its genetic code. There's an A where there should be a G. This tiny and rare typo means that when my body produces cells, the membranes around the nuclei of those cells don't work quite as well as membranes using genes without the mutation. With my specific mutation, different forms of early onset heart failure, including sudden cardiac death from arrhythmias, are high on the list. Learning that my heart is likely developing serious problems and may fail catastrophically wasn't on my 2024 bingo card.
I've learned a lot over the last month and a half. I learned that my heart doesn't currently have any signs of dilated cardiomyopathy, and I've also learned that electrical conductance issues often precede structural changes by years. I've learned that preparing a simple will in Washington State is a little time consuming and involves a few hoops, but is something that you can do yourself. I think the most important thing I've learned is that I'm pretty happy with my life so far. I hope I have many more years ahead of me, but if something does happen, it's nice to have given it some thought and recognized that I'm generally at peace.
My life is a good one: a life of experiences, good and bad, learning–always learning–helping others and receiving help in turn, love and loneliness, inclusion and isolation, adventure and insecurity, moments of despair and inspiration alike. Full and vibrant.
Everything changed all at once, yet nothing is different. I wanted to make sure I fully understood what to expect before I shared this information, but the truth is there's still a lot to learn about laminopathies, and, just as with many things in life, there are many uncertainties. I'm still in the "discovery phase," and I'm not sure how this little genetic quirk will affect my life yet. If I'm in the extremely lucky 5-10%, my genetic mutation won't cause any noticeable issues for me, but I'll plan for the worst and hope for the best.
That's all I have for the moment, but I hope to share more soon. Take care out there!