JaimeS
Senior Member
- Messages
- 3,408
- Location
- Silicon Valley, CA
Sorry, guys, for some of you this will be a bit of a re-hash.
So, I reached that moment we all reach with every ethical physician we see who isn't an ME/CFS expert: the part where they shuffle their feet and shuffle you off to someone else. Someone they presume must be better-equipped than they are, because they are just as susceptible to the myth that medicine has all the answers as anybody else...
...wait, wait, I'm starting a rant, and you're all familiar with that particular tune.
So awhile back I wrote that my immunologist wants me to see a geneticist, but I was skeptical about the benefit. I mean, just how many tests are they going to run for how many disorders in how many systems? But I was looking at some of my bloodwork and I have a suspicion that it would be smart to test for disorders related to gluconeogenesis. There are hereditary gluconeogenesis disorders that become serious later in life, and symptoms are similar to ME/CFS.
Additionally, these disorders put you at risk for liver failure, which my mom went through at her onset 35 years ago, and all for no apparent reason. (She was not a drug user, she didn't drink at all, and she didn't have hepatitis... no one understood why her liver was failing/damaged, and they still don't. Her liver is no longer failing, due to an insane diet no one would ever want to follow, and/or complete and total chance.)
Regarding my article about 'Why Don't They Call It Type III Diabetes?', there is evidence of blood sugar dysregulation in ME. I just am not sure it's the prime mover, or that this one, small study is the final word.
Finally, the immunologist strongly suggested I get my mitochondrial function looked at by a geneticist. "There are too many problems in too many systems," he said, "for this to be anything but a problem at the cellular level."
Thanks, doc, we did pretty much know that much.
So:
1) Is it reasonable to get gluconeogenesis-related and mitochondrial-function testing done by a clinical geneticist?
That is, are these tests reliable and cheap enough to do the 10-11 tests I'd need? Do they prove anything, or are they tutted over like Lyme testing?
2) Is there any treatment for mitochondrial disorders?
I know some of us here have been tested for them. If you were tested, and received a diagnosis, what happened next? It's all very well and good to have a diagnosis so you can write something down on your medical chart, but I don't see the point if there's no treatment to address these disorders. "Co-Q-10 deficiency" as a dx doesn't count; I already know that's going on, and I already take quite a lot of it. Unless it gets me prescription CoQ-10 injections or something, who cares, from a practical standpoint?
3) Does anyone know of a decent clinical geneticist on the east coast?
I will be in the D.C. area in June, so it might be possible for me to visit someone, then.
4) In your experience, can another physician recommend specific genetic testing to a geneticist?
Alternately, my immunologist IS a good guy, and would happily write out recommendations for testing to a clinical geneticist, if that would help convince them to sign off on said testing. Has anyone done anything like that? This would be especially useful because it's hard to find a geneticist of any sort where I am; and the ones closest to me appear to be doing genetics workups in early childhood, and as they relate to cancer, only.
Even if you can answer only one of the above, I'd appreciate any feedback you may have.
Thanks to PR as always!
-J
So, I reached that moment we all reach with every ethical physician we see who isn't an ME/CFS expert: the part where they shuffle their feet and shuffle you off to someone else. Someone they presume must be better-equipped than they are, because they are just as susceptible to the myth that medicine has all the answers as anybody else...
...wait, wait, I'm starting a rant, and you're all familiar with that particular tune.
So awhile back I wrote that my immunologist wants me to see a geneticist, but I was skeptical about the benefit. I mean, just how many tests are they going to run for how many disorders in how many systems? But I was looking at some of my bloodwork and I have a suspicion that it would be smart to test for disorders related to gluconeogenesis. There are hereditary gluconeogenesis disorders that become serious later in life, and symptoms are similar to ME/CFS.
Additionally, these disorders put you at risk for liver failure, which my mom went through at her onset 35 years ago, and all for no apparent reason. (She was not a drug user, she didn't drink at all, and she didn't have hepatitis... no one understood why her liver was failing/damaged, and they still don't. Her liver is no longer failing, due to an insane diet no one would ever want to follow, and/or complete and total chance.)
Regarding my article about 'Why Don't They Call It Type III Diabetes?', there is evidence of blood sugar dysregulation in ME. I just am not sure it's the prime mover, or that this one, small study is the final word.
Finally, the immunologist strongly suggested I get my mitochondrial function looked at by a geneticist. "There are too many problems in too many systems," he said, "for this to be anything but a problem at the cellular level."
Thanks, doc, we did pretty much know that much.
So:
1) Is it reasonable to get gluconeogenesis-related and mitochondrial-function testing done by a clinical geneticist?
That is, are these tests reliable and cheap enough to do the 10-11 tests I'd need? Do they prove anything, or are they tutted over like Lyme testing?
2) Is there any treatment for mitochondrial disorders?
I know some of us here have been tested for them. If you were tested, and received a diagnosis, what happened next? It's all very well and good to have a diagnosis so you can write something down on your medical chart, but I don't see the point if there's no treatment to address these disorders. "Co-Q-10 deficiency" as a dx doesn't count; I already know that's going on, and I already take quite a lot of it. Unless it gets me prescription CoQ-10 injections or something, who cares, from a practical standpoint?
3) Does anyone know of a decent clinical geneticist on the east coast?
I will be in the D.C. area in June, so it might be possible for me to visit someone, then.
4) In your experience, can another physician recommend specific genetic testing to a geneticist?
Alternately, my immunologist IS a good guy, and would happily write out recommendations for testing to a clinical geneticist, if that would help convince them to sign off on said testing. Has anyone done anything like that? This would be especially useful because it's hard to find a geneticist of any sort where I am; and the ones closest to me appear to be doing genetics workups in early childhood, and as they relate to cancer, only.
Even if you can answer only one of the above, I'd appreciate any feedback you may have.
Thanks to PR as always!
-J