Not directly an answer to your question, but if you're not already aware of it, another thing that might be worth pursuing in parallel is having your doctor refer you to the Undiagnosed Disease Network, if the case meets the criteria for that [1].

Another avenue might be a crowdsourced rare disease research organization like [2]

I have no relation to any of the above but read a book about the UDN that may be of interest to you: [3]

[1] https://undiagnosed.hms.harvard.edu/apply/

[2] https://www.researchtothepeople.org/

[3] https://www.goodreads.com/en/book/show/53317420-the-genome-o...

Stepping back a bit from the specific question further, a PCP isn’t the best partner for a rare disease as you’ve noted as well. As you seeing in responses, there are many people willing to help that are well informed. There is typically researchers, associations, and niche communities that will help one keep up with the latest research. If you share more specific information, I or someone else may be able to help direct you towards resources.

goodreads URL is broken; try this https://www.goodreads.com/work/quotes/81650682-the-genome-od...

In general they've said that launching used rockets will cost customers about 30 percent less than regular price (so ~43 million instead of 62). For this specific case I wouldn't be surprised if they charged SES less than that because of the risk involved in being the first flight.

Not sure if you're at liberty to say, but if you are I'm interested in what he had to say about the emails.