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Comment on Ask HN: How to be my own genetic disease researcher for my partner?parent

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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.

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