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First appointment at Mayo with Medical Genetics
Visiting Mayo Clinic | Last Active: Nov 7, 2017 | Replies (17)Comment receiving replies
Hi @lazyironman, I'm glad you found Connect!
Scheduling the first appointment for the first day with nothing scheduled the rest of the week before you get there is completely normal. Mayo's scheduling methodology is phenomenal, and they'll easily be able to fit additional specialists and testing in the week you are there.
I've also have genetic testing done at Mayo: pharmacogenomics testing. They figured out that I had been sick for 12 years because I don't properly-metabolize most medications because of genetic polymorphisms. These findings saved my life, and I wish more people had access to this testing.
Additionally, we think that my daughter has a connective tissue disorder, either Marfan or Ehlers-Danlos, and Mayo pediatric is looking over her records from home right now to see if they can see her. After how much they helped me, working to get her into Mayo was the next logical step.
Replies to "Hi @lazyironman, I'm glad you found Connect! Scheduling the first appointment for the first day with..."
@lazyironman I would definitely ask about PGx testing while you're there even if you've had it before. Even if you don't have the testing done, you might want to meet with the pharmacist there to have him explain things because it is a lot to learn and can be confusing.
I'm happy to hear that you have a doctor who is willing to work with you on this. That's very important!
I'm hoping to hear back from them soon re: my daughter. She will need PGx testing too, which is one of the reasons I want Mayo to do it -- to be consistent with my testing provider.
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Hi @kdubois thanks! I've heard it's the norm so I'm trusting the process and excited to come out there and see what kind of mysteries will be solved 🙂 I've spent most of my adult life having to collect pieces of the puzzle from various doctors and try to figure it out myself but with the way Mayo works as a team with everyone communicating, it sounds like it will be much more efficient than my prior experiences.
I've had weird reactions to many drugs in the past so I found a company, Admera, that does pharmacogenomics testing and had my doctor order it earlier this year. Unfortunately, the results made zero sense and did not line up at all with the side effects and reactions I've had in the past. In fact, many of the recommendations from Admera were the opposite from my experience, for example recommending higher than normal doses of drugs that genetically I should be a fast metabolizer of but I actually have to take 1/4 the normal dose for it to work with minimal side effects. My doctor and I agreed to ignore the results and continue prescribing based on my experiences. I'll certainly mention pharmacogenomics during my appointment and perhaps their results will be more accurate and helpful!
I'm so glad to hear they helped you with pharmacogenomics testing and I hope they can help your daughter too. Let me know how it goes for her!