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

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Biology and hence medicine is complex. You can not grok it in a day. You can not synthesize most drugs at home and you can not buy them without a license. There are therapies, side effects, treatments for side effects, interactions, ... It may be impossible to become an expert and find a cure in time for your partner. This is not your fault.

I strongly recommend that you start by consulting with multiple doctors until you find one or more who shows interest in your partner's case, understands probable causes, and demonstrates useful expertise in treatment. You may need to visit a larger hospital that is involved in research. Work the system. You are a recruiter.

Pick the primary doctor who will coordinate your partner's treatment. This doctor will be your partner's primary line of defense, and they will mentor you in any investigations you do. They will guide you through the maze of therapies, palliative care, research, social workers, and other forms of support. They will connect you to other specialists who can help.

Good luck!

Wise reply. Even simple Mendelian genetics is complex. OP would love a therapeutic intervention. That will require working collaboratively with motivated health care experts.

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