I haven't written about it publicly, but I can elaborate here. I don't mind answering further questions about it even if you believe they'd make me uncomfortable - they won't.
I've come to terms with what's happening to my body and that I may not benefit from my efforts.
Background: ~3 years ago I was diagnosed with a very rare MPLW515L-driven blood cancer known as a myeloproliferative neoplasm. My hematopoietic stem cells (HSCs) acquired this mutation and they produce busted downstream products.
Most notably, one of those downstream products are hyper-lobulated megakaryocytes that spew inflammatory cytokines into my bone marrow and destroy the bone marrow niche over time. The destruction happens specifically because the inflammation mobilizes stromal cells and they erroneously produce scar tissue (fibrosis) all along the walls of the good, spongy marrow. There are other sources of damage but this is the one path most aligned to abbreviated survival and transformation into AML.
In effect, my bone marrow is rusting and very slowly failing. The failure could speed up with the acquisition of additional mutations or any other systemic inflammatory condition.
Anyway, 3 years ago my first retail hematologist told me "it's rare, you're fine, take aspirin and go home."
I couldn't accept that - this seemed bad. I decided that if I wanted to know the truth I needed to physically stand in front of the foremost expert in the world on the topic and ask them "what is the state-of-the-art?"
I came to this conclusion after about a year of reading all the most well-cited academic papers about AML, Myelofibrosis, and Essential Thrombocythemia. In particular, anything that mentioned MPL. There are virtually no papers mentioning MPL.
To put that in perspective: 500,000 patients in the US deal with the broad disease category. 5% of those are MPL, and 40% of those are the -K variant. So 10,000 people - which means anything targeting it would be well into orphan drug designation territory. I'd need to find a pretty niche researcher.
So, I laddered up the academic food chain using a little cash (donations), emails, airline tickets, and conference admission. ~2 years after my diagnosis I found myself in a closed-door session called the MPN Roundtable in Chicago with 100 of the foremost experts in the world. No cameras, no transcripts, just some of the greatest minds in the field earnestly debating the path forward to a cure.
I listen carefully to them, ask dumb questions, connect dots across research. I rehomed my care to an academic research hospital specializing in MPN research, and started funding research on the condition it includes my specific MPL mutation. Researchers happily oblige.
Cas12a2 was the keynote topic at this year's meeting and there was _very little_ dissent.
My aunt had the same disease you mention and was on medications since the 90s. She lead a healthy life with no real side effects from her medication and she passed away last year in her 80s. To be perfectly honest, she did die of the disease, because her medication stopped working and her bone marrow was all scarred. But up until a year before she passed away she was very active and healthy. Once the medication stopped working, she went steadily downhill until she passed away.
Hopefully you get great progress on your research but I just wanted to reassure you that the name sounds scary but the current treatment appears to work well and hopefully gives you enough runway to find your cure.
> I just wanted to reassure you that the name sounds scary but the current treatment appears to work well
Even a charitable read is condescending. This person just wrote they are in the innermost research circles. I think they are beyond the "scary name" - needs reassurance phase.
This is so impressive - kudos to you. Thanks for sharing and being open to questions.
How much overall has this costed you? Do you think that a middle-class person could afford to do what you did?
> So, I laddered up the academic food chain using a little cash (donations), emails, airline tickets, and conference admission. ~2 years after my diagnosis I found myself in a closed-door session called the MPN Roundtable in Chicago with 100 of the foremost experts in the world. No cameras, no transcripts, just some of the greatest minds in the field earnestly debating the path forward to a cure.
Why don't they allow recordings at the MPN Roundtable? It could be useful for others to learn from.
> How much overall has this costed you?
For this project, seed capital low six figures. I am collaborating with family and friends, non-profits, and using doubling mechanisms available to me to at work to fund the very early speculative bench research. This is where we are and its sustainable today.
Once we have the basic tech worth scaling up - to raise the first round of capital, I estimate $1-2m with a wider friends & family and angel investor round. This will be early de-risking research and delivery mechanism testing.
Beyond that I can see a path to a ~$20m round to further de-risk any assets that come out of these speculative efforts, but I haven't gotten this far.
In rare disease therapeutics the challenge isn't raw capital, it's finding the _right_ capital that understands how assets like these get de-risked and can tolerate the shape of the upside. Anything CRISPR-based is usually not a chronic therapeutic, so that disqualifies most of big pharma. Acute, curative technology like this requires informed capital.
> Do you think that a middle-class person could afford to do what you did?
Yes.
In the rare disease field even a small amount of capital attracts enough attention to have meaningful conversation with bench researchers. If you're willing to travel to the niche conferences, ask dumb questions, grind out the studying, and approach the speakers after their sessions.
Researchers respect people who do their homework and mobilize to meet them. They want (need) to hear from patients and caregivers - so they tend to listen very carefully.
Fun fact: I've had multiple researchers ask me for samples of my bone marrow. Has only happened in-person :)
> Why don't they allow recordings at the MPN Roundtable? It could be useful for others to learn from.
I don't know, it's been going on for a while. I can speculate: they're discussing pre-publication data, some of which had come out of their labs only hours prior to their presentation. It's completely unfiltered. I think there's real risk of some of the things that are shown being sensationalized or taken out of context.
The audience is trained and practiced in keeping a sober, skeptical lens on everything they see - so it's more about the debate and tear-down of the early data for the betterment of the niche.
There's zero attempt to hide anything, it's just a forum for collegial debate.
Do you feel that recent advances in AI can speed up such rare disease research?
Incredible story, just pure resourcefulness and grit in following this through. I know it sucks to have this disease, but kudos for how you approached this.
"When have you most successfully hacked a non-computer system to your advantage?" Amazing resourcefulness, you should consider applying to YC if you haven't! And I hope you manage to find a solution to your problem it sounds very promising.
And by the way, when Anthropic (sic) tells you that it's too dangerous to allow GPT-2/GPT-3/GPT-4/GPT-5/Sonnet/Opus/Mythos/Fable to discuss human biology, and some of us object vociferously to their premise, this is what we're talking about.
I haven't heard anyone specifically state their justification for blocking bio research along I can only assume it's to prevent manufacturing bio weapons or virii?
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This is amazing. Thank you for sharing.
wow, very interesting I can't say I've really ever heard of anyone financing research themselves, hope things work out and maybe a treatment arrives in time for you.
As an aside if you end up cryogenically freezing yourself for a future treatment don't forget to actually cure your boneitis when they thaw you out.