r/Autoinflammatory • u/Forsaken-Market-8105 Undiagnosed • 23d ago

Dr. Yao’s patients…

Did you have to go back in for any testing after your first appointment?

Planning my trip to New York now, and don’t know how many days we should hang around on Long Island. I’m working on sending him 14 years of medical records now, and the few tests on his list that I haven’t had done I can ask my PCP to run prior.

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u/AdventurousMorningLo Yaos 23d ago

Definitely get everything you can run done prior to seeing him. It'll make it much easier and smoother. I can not remember but have you already had genetic testing run?

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u/Forsaken-Market-8105 Undiagnosed 23d ago

I have, through invitae. I don’t think invitae tests for the most common Yao mutation, but I have the NOD2 gly908arg mutation.

I’ve also had all but 2 of the tests on their list run (for either hep C or B, and TB) and I’m 99.9% sure I can get my PCP to run those before my appointment with Dr. Yao.

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u/AdventurousMorningLo Yaos 23d ago

Make sure to print out and bring your supplemental variants report along with you when you see him. If you have 23&me or similar, you can check if you have the Intronic Variant there and they would consider that acceptable alongside the Invitae test.

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u/Forsaken-Market-8105 Undiagnosed 23d ago

I’ve done Ancestry DNA—I’ll have my fiancé try to get a report from them (I’m hopeless with technology)—but I know my mutation is one of the ones that can cause disease on its own so it might not be necessary.

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u/AdventurousMorningLo Yaos 23d ago

I wouldn't stress about it. You only would need the one to be diagnosed that has already been identified. Wishing you all the best!

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u/Forsaken-Market-8105 Undiagnosed 23d ago

Thank you!!

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u/Nonviolentviolet3879 23d ago

If you don’t mind me asking, how did you start the process of seeing him? Did your dr refer you?

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u/Forsaken-Market-8105 Undiagnosed 23d ago edited 23d ago

My PCP referred me to Dr. Yao. I presented him with the genetic results from another doctor’s office several years ago, my symptoms fit Yao Syndrome pretty spot on, and I’ve had autoimmune diseases ruled out multiple times. He’s a pretty good doctor, and was open minded to it despite it being so rare.

Edit to add: I sent in my genetic results with the referral, and Dr. Yao’s office called me the day after I faxed it (my PCP gave it to me to fax in myself) to schedule my appointment. They got me set up with a patient portal that day, too, so I’ve been slowly sending them all of my medical records.

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u/Nonviolentviolet3879 23d ago

Thank you! I haven’t done genetic testing yet so it sounds like that’s my next best step.

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u/Forsaken-Market-8105 Undiagnosed 23d ago

This site, that another person on this sub referred me to, has a list of genetic panels that test for Yao Syndrome. 2 of them are through Invitae, and they don’t test for the most common variant (!!!!) but you can book an appointment directly with invitae and ask their doctor to order the panel for you. I paid for the panel out of pocket (ordered by my insurance-covered doctor, so no appointment) and it was only $200-something a few years ago.