I have that same one. NO CYP2D6. Most people think it just relates to drugs but be sure to look at the studies about clearing toxins from the brain. It may make you more susceptible to Alzheimer’s, Parkinsons etc. It could be contributing to your issues in ways not known yet.
The neuroprotective enzyme CYP2D6 increases in the brain with age and is lower in Parkinson's disease patients - ScienceDirect).
Also, there are several main sources for what drugs are effected by CYP2d6. They don’t all agree. It takes a lot to move the needle on it. One of the major sources cited in studies moved the needle a little when I provided a study that indicates Plaquenil may be a problem. They wanted to see more studies on humans before they call it a substrate but they did put it on their list. I don’t remember which category.
So I use that as an example. My rheumatologist gave me a prescription but I didn’t take before I even knew I had this problem. I am not going to take it unless things get worse.
Also, when Indiana University did their genetic testing to officially confirm that I have the issue they told me they don’t test suspected variants. They do the ones that have been “proven” and that they can do something about.
I asked them about the P-gp test and Clinical Pharmacology doesn’t test for it.
If anyone comes across this thread from Indiana they do have a Medicine Clinic you can go to if you suspect an issue. It’s called Precision. They don’t hold it often. I have never been. I went through different channels.
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Our gene variations are pretty rare, less than 5% of the population. So, there’s not much research out there on it. I went to Cleveland Clinic Pharmacogenomics and it wasn’t helpful, but IU pharmacogenomics was somewhat helpful. I’m just still trying to nail down the basics of “what not to take” list. My doctors have been extremely receptive, but they just don’t know a lot about. But they’ve seen my miraculous recovery (I had lost 50 pounds, couldn’t eat, was bedridden, and had a feeding tube)…so they’re believers that this is a significant thing. I also have other mutations involving 2B6 2C9, and 3A5, but 2D6 is the most significant for me. I wish more people knew about this stuff. We need a whole forum on the significance of polymorphisms.
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IU changed their Flockhart table after dealing with me. If you look now you will see Hydroxychloroquine on it but not as a substrate yet.
If you have your DNA you can upload it to Genetic Genie. It’s great tool to use and it is free. It may help you see some of your issues with Drugs.
I can tell you Oxy doesn’t work on me or Hydrocodone which made recovery from a surgery a nightmare. IU told me Fentanyl and Morphine would work . I said “nobody is going to be prescribing that to me”. The ENT department treated me like a drug addict when I asked what drugs might work on me because I couldn’t take Tramadol or Amitriptyline.
https://drug-interactions.medicine.iu.edu/MainTable.aspx
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I literally just went to IU a few weeks ago and just got a link to the Flockhart table. I still need to check it out. I will check out Genetic Genie. Thanks for the referral on that.
I’m sorry you’ve had flack from your doctors. I’ve had a great response from my medical team thus far.
Per report, I’m a poor 2d6 metabolizer, but technically have a very small amount of 2d6 function (*4/*41, about 5-10% function). I should be able to take oxy rotating woth morphine, for post surgery situations. But i can’t take other longer term meds metabolized on that pathway.
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IU has a consulting service for Doctors trying to help their patient. I don’t know if out of state qualify but it might since it is Doctor to Doctor consult. They are trying to educate Doctors about these issues.
There is some kind of program that if the insurance won’t cover the genetic testing they have something that covers it. Or they charge less. Or something. I can’t remember the details. I am pretty sure I was told I wouldn’t be charged for any amount not covered by insurance.
This is separate from the genetics department that covers many diseases.
This is about the genetic issues with drugs.
You definitely need to understand and study all that info on the Flockhart table. Even things like OTC drugs such as Quercetin can have an dangerous effect on other drugs, etc
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I didn’t go to the genetics disease dept. I saw Dr. John T Callaghan at IU, who specializes in pharmacogenomics. Since I’d already had prior pharmacogenomic testing done, he analyzed my current testing and made medication recommendations.
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That is the doctor who told me that there is a little used technique for MRI when there are gadolinium issues . He called me at home early one evening to discuss the whole thing. I thought radiologists would know so i didnt ask for the name of it.
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Thanks for the information. I will send him a mychart message and ask about it. He is very helplful!
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You can tell him that you talked with another patient who he had helped concerning a bad reaction to Gadolinium and i mentioned that he said there was an MRI technique not often used that might be helpful but i didnt know name of it.
The problem is this was months and months ago. He did the research before that call. He may not remember the research but maybe he can find out again for you since you have had so much exposure.
He might have meant an imaging technique other than MRI not often used or he might have meant a technique with MRI. I cant remember for sure.
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@1speechpick & @JugularEagle - Thank you for this discussion. It is fascinating & is further proof of the complexity of our bodies & how little anyone, even the most experienced doctors, knows about its “mysteries”. Medicine’s knowledge is at “tip of the iceberg” level, if that. You ladies have done a lot of deep digging to learn what you have about your bodies on a microscopic level. Thank you for sharing this information. I expect it will be helpful for some of our members.
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Can you please tell me what the test was?
I am being seen at MAYO now.
@1speechpick and @JugularEagle I’m also interested if you found out more information on alternatives to gadolinium. I’m seeing a doctor who wants to request a cervical mri with contrast, and I would just as soon stay clear of that (even though she said she said her patients get them all the time, and it’s “safe”).
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I’m not aware of any alternatives. I think the standard is to use a 1.5 Telsa MRI. Is it possible that a 3 Telsa MRI would provide enough detail without the use of contrast?
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@DeeCeeNorth - I think most doctors have this opinion. When I had gadolinium in a couple of MRIs the story was “It’s such a tiny amount it won’t bother you.” I had a headache for 3 days after my MRV but nothing beyond that thankfully.
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