Ask HN: Diagnosed with genetic heart disease at 25 – how do I make an impact?
My father is currently suffering symptoms, and my uncle died before the age of 50 from sudden cardiac death caused by HCM. While modern technology such as implantable defibrillators greatly reduce the chances of sudden cardiac death, the degenerative consequences of the disease that probably await me are daunting and scary for a fit and sporty 25 year old.
HCM has only recently begun to emerge from a dark age of being viewed as a benign tumor that can be cut and hacked away at; in reality it is an interesting condition for which drugs and treatments can be specifically developed. Some of the first generation of HCM drugs, myosin inhibitors, are undergoing clinical trials and one, mavacamten, is awaiting FDA approval. These drugs help reduce obstructive symptoms and benefit the structure of the heart, but the root cause, the faulty genes, are left unchanged and the heart continues to thicken. As the genes that cause HCM are known and can be identified by sequencing ones DNA my instinct is that HCM is particularly suited to gene therapy.
I am a recent graduate in computer science, with a bachelors and masters degree. It is hubris (and dangerous) to think that I could save or cure myself, but I have been toying with the idea of doing a PhD in Genetics or a related field and then further research on gene therapy applicable to the heart.
I don't want to start suffering symptoms later in life and regret that I played it safe and did not try to contribute to fighting HCM. It helps that I have not yet found happiness in the working world and was most fulfilled when independently learning and solving problems at university.
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My questions to you HNers:
How can I make the most impact against HCM? A genetics/gene therapy PhD? Apply to AI-aided drug discovery start-ups? Would comp sci give me an edge or just leave me playing catch-up with the biologists?
Is it sensible or healthy to even try? The slow pace of medical advancement & regulation (in comparison to software) and the very personal consequences of failure would be mentally difficult.
Would I be better off staying in software, earning as much money as possible to get the best healthcare and ensure any future children don't carry the genes? Or should I try to maximise happiness while I am still healthy (which is easier said than done)?
Thanks!