(Editor’s Note: What follows are more transcripts of an appointment that Carol Sieverling had with Dr. Cheney. Cheney discussed a broad range of subjects related to CFS. Carol has kindly decided to make the details of her discussions with Cheney publicly available, for the benefit of all CFS patients. They are republished here with her permission. Please remember to discuss all suggestions with your own healthcare provider. For further information, please contact Carol at firstname.lastname@example.org)
Carol’s Note: Here are the transcripts of tapes from my October 23 & 24 appointment with Dr. Cheney. Statements in quotes are of course from Cheney; statements in parentheses are my own comments; statements not in quotes or parentheses are my own paraphrase/summary of Cheney.
First, some definitions for those new to this topic: The Merck Manual states “Mitochondrial myopathies are muscle disorders inherited when faulty genes in mitochrondria (the energy factories of the cells) are passed down through the cytoplasm of the mother’s egg.” The Cleveland Clinic, which appears to be on the cutting edge of Mitrochondrial myopathy according to Christie and others, may or may not find this definition satisfactory. But it was a place to start for basic definitions.
CFS ‘a mitochondrial disease’
I asked Cheney about mitochrondrial myopathy and CFS. He confirmed what I suspected: in CFS there is so much injury to the mitochondria that CFS could be called a mitochrondrial disease.
I recall seeing a photo Cheney showed me at my first visit in ’96. A study of mitochondria in CFS patients was done at UNC. The photo showed a mitochondria from a healthy person. It was lit up like a thunderstorm on a radar screen – some blues and greens, but a lot of yellow and red – high energy production. The mitochondria from the CFS patients was such a contrast: mostly blues and green with a tiny bit of yellow in it. No where near the energy being produced.
Causes of mitochondrial dysfunction
So the mitochondria are clearly affected in CFIDS. But the question is what’s causing the mitochondrial dysfunction? Are we born with it, or is it acquired, and if it’s acquired, how? Cheney said those questions are still up for grabs. But he also said that when most doctors talk about Mitochondrial myopathy, they mean genetic or acquired gene defects in the mitochrondria. (Emphasis on gene defects.) And researchers have looked for gene defects in the mitochondria of CFS patients and they haven’t found them.
Non-genetic ways to damage mitochondria
Cheney said that in the pathophysiology of CFIDS there are actually “lots of ways to screw up mitochondria without hitting its gene”. (On my tape he is pointing to certain areas on a complicated diagram that explains all the mechanisms at work in the various phases of CFS, but since it’s just audio, I can’t make any sense of it. I don’t know which processes/mechanisms he’s
pointing to that lead to the mito injury/damage.)
He says you can have genetic defects (which are not necessarily inherited – it just means the genes have gotten messed up) on a few mito, but it wouldn’t be enough to qualify as Mitchondrial myopathy. Each cell has about a thousand mitochondria, and to manifest Mitochondrial myopathy you’d have to have genetic defects on about 990 of them. That doesn’t appear to be the case in CFS.
Cheney said that if someone were to tell me that I don’t have CFIDS, that I’ve been misdiagnosed and actually have Mitchondrial myopathy, he would challenge that. Now, if they say my CFIDS involves mitochondrial dysfunction, that’s true. All CFIDS patients have mitochondrial impairment to some extent.
Even if you were one of the rare cases of Mitochondrial myopathy, to his knowledge they really don’t have a really effective treatment for it. Cheney did say they know what they can’t do – or rather what the patient can’t do. Absolutely contra-indicated. “Never, never exercise in Mitochondrial myopathy – you’ll kill them.” (I don’t know if Cheney is referring to
killing the mito or the patient, or if ultimately it’s the same thing. Yikes!) “And guess what the government is funding in NJ – a program to figure out an exercise program (for CFS)! There’s such fragmentation of thinking in this field.”
Findings of MRS Scans
“We’ve started sending patients to Columbia Presbyterian Medical Center in NYC. Do you know why we do that? Because they are all showing the same defect in the brain. The Magnetic Resonance Spectroscopy Scan (MRS) is of the cerebrospinal fluid in the body in the left ventricle (of the brain). That (same defect) is the first sign of Mitochondrial myopathy. Actually of Mitochondrial Encephalomyopathy. That is, the brain and muscles are both affected. So far we’ve done five people and they’ve all showed the same defect.”
Comparision to Non-CFS patients
“The professor who does this (Dr. Shungu) is an expert in spectroscopy, a PhD not an MD, a professor of radiology who has published in the field of mitochondrial encephalopathies. Dr. Shungu says ‘Your (CFS) patients have the same defects as families with (inherited) mitochondrial defects – but here’s the difference: in the families with (inherited) mitochrondrial
defects, no matter where I put the cursor (telling the MRS where to look), I always see the same defect. Every gene in their body has this defect – every cell.
Whereas CFS patients have a focal problem, as if their brain’s been injured somewhere. The defect isn’t generalized, it’s not something they’re born with. I’m not sure where the locus of this is, it’s in the spinal fluid, but I don’t know where it’s coming from. The other difference besides the uniformity of this defect in the genetic patient versus the CFS patient, is that the CFS patient’s lactate (sp?) level isn’t nearly as high – it’s half the size of the true mitochondrial encephalomyopathy, and those patients are usually born retarded.’ ”
Cheney resumes “All we know is there’s a metabolic defect in certain area of the brain, linked to mito problems, but that’s all we know and it’s different that the usual run-of-the-mill, DNA, born-with-it, genetic defect. That’s what we’re not seeing. And the caliber of the defect (in CFS, while
still significant) is far below the defect in that of the genetic Mitochondrial myopathy patients.”
To say it’s not CFIDS – it’s mitochondrial myopathy, and you’ve been misdiagnosed, well I got the very strong impression that in almost every case Cheney would disagree, as long as the traditional definition of Mitochondrial myopathy is being used. On the other hand, he would totally agree that there is a significant mitochondrial problem in all CFIDS Patients.
MRS Scans important to disability claims
Cheney considers the MRS scan a powerful piece of disability documentation and is now encouraging patients to get it if they need such documentation. But only at Columbia Presbyterian in NY from Dr. Shungu. He is also strongly recommending all those in the human growth hormone / bovine growth factor study to have the MRS done in NY before and after the study. The readout of this test looks like something taken from the movie Medicine Man: a basically horizontal line across the bottom of the page with periodic spikes of different heights.
If I understand this, each spike represents the presence of a particular substance or chemical. The higher the spike, the more of it there is. I think that many abnormalities show up in an MRS of a CFS patient, but what grabbed Dr. Shungu’s attention is a particular spike that is almost never seen. According to one member of our support group who saw Cheney recently, that spike is only seen in CFS and “demented children”. Now, our spike is not as high, and I don’t know exactly what is meant by “demented children”. And I don’t know if this relates to the Mitochondrial myopathy. But it does make you wonder!!
Getting Tested with MRS
If your doctor wants to pursue the MRS, or you can talk your doctor into pursuing the MRS, your doctor’s office needs to call medical records at Columbia Presbyterian Medical Center to obtain a medical record number for you (212-305-6151). Then you call MRI scheduling (212-305-0989) and ask for an appointment for an MRS with Dr. Shungu, per the “Shungu / Cheney” protocol: “Attention spectra of CSF in body of lateral ventricle plus the spectroscopic analysis of the hypothalamus”. The test takes about an hour. The cost is $1,230.
The MRI suite is in the basement of the Milstein Hospital, part of the Columbia Presbyterian Medical Center complex. The address is 177 Fort Washington @ 168th St, New York, NY. It’s located near the George Washington Bridge on the Upper West Side of Manhattan. The nearest airport is Newark. It typically takes 5 to 6 weeks to get an appointment.