Genetics for ME/CFS: EDS, Porphyria, Fabry . . . ?

[FiliaLumen]

I was sent to a geneticist for genetics testing to find the root cause for my ME/CFS. The referral requested EDS and Porphyria genetic testing. After the optimistically (but exhaustingly) thorough 80-minute telehealth appt, the geneticist decided NOT to test for EDS since my physical exam results for EDS is borderline. However she put me in for genetic testing for Porphyria and Fabry Disease.

She said that those two tests will be done for free by the same company that manufactures treatment for those two rare diseases. Sounds like a conflict of interest to me, and I would rather get tested for things that are more often the cause of ME/CFS than for those that are simply free to test for. . . .

Anyone here have experience with genetic testing for the root cause of their ME/CFS? Were you tested for Porphyria and/or Fabry? Any insights to share on this topic?

- Filia Lumen

 

[virtual]

I have hemizygotes G6PD, which means porphyria.

 

[FiliaLumen]

@virtual Thank you for sharing that. Do you believe it played a part in your getting ME/CFS?
Is it active or dormant? (I understand it can be passed for generations without showing signs.)

This genetics is all very confusing because my brain fog never fully clears away. I used to love the natural sciences and even took at elective course in Human Genetics back in university. But now basically everything is confusing! I will let you know of my results when I get them.

 

[hopeforaday22]

It's hard to analyze all this stuff when you have constant brain fog.

Was it difficult to get a refferal to a geneticist? Can I ask why they wanted to rule out these specific diseases in your case? I hope you get an answer soon.

 

[FiliaLumen]

@hopeforaday22 I was sent to a geneticist mainly for possible EDS or mitochondrial issues, but they decided to first test for the genes for Porphyria and Fabry as the first level because those tests are free. If those come back negative, then they will do the genetics for EDS and mitochondrial issues (those DNA tests are not free).

I was 'sent' to a geneticist by my integrative doctor, who is outside of network. The geneticist is in-network. Currently, due to the nationwide 'germs' emergency, my insurance company has a temporary waver for the usual formal referrals/authorizations through them before seeing an in-network specialist. The temporary waver is only good until the end of May. Otherwise, I have no clue how I would convince my in-network PCP to submit a geneticist referral through my insurance and get it approved! Referrals/authorizations aside, I will still have to pay for it all because I have a high deductible.

 

[hopeforaday22]

@hopeforaday22 I was sent to a geneticist mainly for possible EDS or mitochondrial issues, but they decided to first test for the genes for Porphyria and Fabry as the first level because those tests are free. If those come back negative, then they will do the genetics for EDS and mitochondrial issues (those DNA tests are not free).

I was 'sent' to a geneticist by my integrative doctor, who is outside of network. The geneticist is in-network. Currently, due to the nationwide 'germs' emergency, my insurance company has a temporary waver for the usual formal referrals/authorizations through them before seeing an in-network specialist. The temporary waver is only good until the end of May. Otherwise, I have no clue how I would convince my in-network PCP to submit a geneticist referral through my insurance and get it approved! Referrals/authorizations aside, I will still have to pay for it all because I have a high deductible.

Thanks, I'm curious why they only test for a few panels of genes? isn't it much more expensive too? Why not whole exome testing?
I don't really know much about this kind of stuff, but learning!