@stripey14
This observation would be accepted by many:
"A person, usually female with a genetic vulnerability (familial) is exposed to chronic stress or a strong stressor which results in a cascade of physiological events causing characteristic chronic illness involving multiple overlapping, co-morbid syndromes/symptoms/diseases" (for us strong stressor would be something like glandular fever?)
Yes, for example glandular fever, Lyme, mold for some, surgery, physical trauma, catastrophic event (9/11), etc.
There is a lot of co-morbidity you just have to glance through people's twitter bios. It could be there's a common root cause or vulnerability. Although perhaps the diagnosis is ill-defined. Rather than ME/CFS, fibromyalgia and POTS perhaps I should have one diagnosis with a better case definition or using biomarkers rather than syndromes.
I agree 100%, but no one is ready for that, yet. This theory unites groups of people who aren't ready to be united for several reasons: it seemingly goes against firmly held ideas (for example, "TNXB is a rare cause of hypermobility"-true if you talk about haploinsufficient TNXB mutations but I'm not talking about EDS and I'm not talking about halpoinsufficient mutations, I am talking about ALL mutations; "CFS/ME is misdiagnosed in people with EDS, all the problems are due to EDS" I disagree, why are all the symptoms, even the bizarre ones, the same and EDS people seem to need a trigger to get sick. I was at the top of my game (better than the game of 90% of people) when I got sick despite EDS. An adrenal fatigue group member told me they didn't like terms medical terms like POTS. What I attempted to do with that website was speak to a HUGE audience in language every one could understand about medical conditions with very confusing and overlapping symptoms.
Also, don't most families have people with the conditions you list and the psychological profile you describe? It seems so big that it would be hard to refute. It feels to me like it needs to start smaller. What results would convince you that this theory is incorrect?
Yes, this psych profile is very common-20%. The trick is correlating it with family histories, symptom histories, hormonal abnormalities with very extensive testing and correlating that with specific CYP21A2 mutations. Any study doing this will have a huge number of patients, controls (not sick, not CAPS), sick , not sick (CAPS alone). We have not finished writing the protocol. We are also making sure our lab can sequence and characterize RCCX module. Many can't. Ronald Davis, PhD has a copy of the theory and perhaps he will be interested in our samples. He contacted me after I wrote to him. If people have CAPS or are sick and clearly have known non mutated CYP21A2 variances (although there are rare ways to develop the hormonal issues without this mutation). If there are no patterns in the sophisticated hormone challenges we will do.
I struggle to see how you get from these mutations and multisystemic conditions to using a variety of talking therapies as the treatment of choice for patients though. Am I reading that right? I can see the logic that it's useful to have techniques to cope with stress but is that adequate treatment for these conditions?
Absolutely NOT adequate. You didn't understand what I said. Another person on the forum read my theory and said that's what I said. As mentioned in my refute to her analysis (you can scroll back and see the whole thing), hormone/enzyme support would be first line (if this theory is correct and I cannot make treatment recommendations anyway) before one is too sick, maybe CRH blockers/something to decrease progesterone when illness starts, then treating the anything maintaining the need for cortisol, i.e. contributing the stress response, including cytokine dumping, MCAS, volume issues, mental health issues. People with CAPS have an exaggerated stress response, so grounding, mindfulness, other therapies may even prevent illness, but are VERY important to decreasing this stress load. As an aside, I was discusing my credentials for someone who didn't understand them.
In terms of fundraising for research. It would be good to have more clarity about the study you will do. Is this a GWAS study?
No, too complicated for that. The RCCX is very complex.
How much do you need to raise?
see below.
How will you recruit participants and controls? Seeing as there's a personality aspect to this, a snowball sample or getting participants to come forward online would bias the results.
We have 3 clinics here, then we will expand. Online would not be terrible initially because first we want to show the link between CAPS, CYP21A2 mutations, illness and family history. Then we can look at what percentage of chronically ill people have this going on (that will need samples without selection bias).
I didn't come on here to fund-raise. I came on because someone was talking about my theory and I wanted to answer questions. I was told that I shouldn't be fund-raising as we are not qualified to do research. Please see my response above. I put out my theory with no intention to do research, I just wanted it out there for someone to see and follow up (this was after writing to many experts and either getting no response or a positive response).
Then Karen Herbst, international cutaneous adipose tissue expert contacted me right away saying that she sees a high rate of hypermobility and all of the comorbidities including CFS in a high number of her patients and most from what she can see have CAPS. She knew I was right and wrote an IRB protocol right then and there that we are fine tuning. She suggested a non profit, so I hired an attorney and set it up. He said that we needed a website BEFORE we could apply. I did that. I set it up for ALL research looking at RCCX Module in Chronic Illness, not just for Karen and I.
In this thread in defense of my actions in terms of fund-raising I said we would return unused money if our study doesn't have enough funding and if no one is interested in the RCCX. Yesterday after finally getting an appointment with the admin/accountant person, I now know that that is illegal and that the lawyer wrote into the bylaws that the money would go to another charity to help people with chronic illness. I corrected that statement on this thread.
We are set up to collect money and have received a few donations, but we are not actively fund-raising as I am the only person doing everything right now (I have a few volunteers but we haven't moved forward because they are sick and not ready to start). I posted on one site about fund raising to generate interest in the theory. I made it clear on that thread where we are in the process. We are not ready to submit the IRB until we figure out if we can use our lab or if we need to hire a better one.
Karen has been travelling internationally presenting at conferences, I believe. We won't have numbers for a while. When we do, we will be very transparent about where the money goes. I am working for free and so is Karen (she is paid by the university), I am a volunteer.
Do you know that Nancy Klimas is doing a genetic ME study by crowdsourcing the dna data instead of raising money? If you're saying that 23andme.com doesn't provide enough information that wouldn't work for you though.
Yes, I tried to contact her before I realized that very few people are qualified to look at the RCCX and we will need to be much more manual about our analysis especially in the beginning.
