RCCX Project, Inc.: Explore Role of RCCX Module in Familial Chronic Illness Clusters

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Hi all, I am Sharon Meglathery MD, a board certified psychiatrist, previously board certified in internal medicine.
In 2009 I developed CFS, MCAS, POTS in the setting of EDS, hypermobility type. From 2009 until July 2015, I, like many of you, struggled to get better by figuring out what the heck was going on with my body. Lots of the so called truths in medicine didn’t match what I was observing in myself. I was developing all of the symptoms and beliefs about these symptoms which I’d been taught were hypochondriacal and dysfunctional!
To me this was actually quite incredible. I was surprised to learn of the vast epidemic of very sick people, mostly women, a good proportion hypermobile to some degree (but some not at all), some with exposure to EBV, mold, severe physical trauma, some without any external exposures (but often high internal stress) who often very quickly became devastatingly ill with a vast array of almost identical symptoms, syndromes, diseases. Some of these comorbidities considered to be very rare, are rampant in this population which is eventually diagnosed with chronic Lyme, FM, CFS, ME, EDS, dysbiosis, adrenal fatigue, etc. depending on the specialist seen and the testing done.
I followed the forums for all of these conditions, reading everything I could find in the medical literature while examining my patients very closely for hypermobility and looking for signs and symptoms of these conditions in them and in their family members. I found something remarkable. I found that these conditions travel in clusters in families and I also found a marker which allowed me to accurately predict who would become ill and who would have ill family members.
In July 2015, a fellow EDSer, Martha Cassell sent me an article talking about how the RCCX gene module defies all of the rules of genetics by mutating often and allowing adjacent genes to travel together (causing 2 “rare” conditions in 1 person or in clustered in families). The genes are: TNXB (associated with hypermobility phenotype), CYP21A2 (codes for acute stress response enzyme which makes cortisol) and C4 (immune system gene now implicated in MS, schizophrenia, other autoimmune diseases).
The RCCX Theory was born.
It was too far out to be published in a medical journal, though I tried. I couldn’t get any researchers to listen to me, so I put it on a website: www.rccxandillness.com on February 15, 2016. In one week, it had 13000 views (according to Weebly) and within 8 hours, I had been approached by Karen Herbst MD PhD, Endocrinologist, to work together to prove the RCCX Theory. You see, she is a subcutaneous adipose tissue expert and she sees quite a bit of chronic illness and hypermobility in her patients. She knew I was right when her patients asked her to read the RCCX Theory.
We started writing our IRB Protocol to prove it. We plan to define and characterize mutations in the RCCX module in terms of phenotypic/clinical presentation. We will be gathering a large amount of genetic, family, clinical and laboratory data from people with chronic illness (CFS, chronic Lyme, FM, etc), hypermobility, the CAPS profile and subcutaneous adipose tissue disorders and comparing this data with normal controls. The RCCX Project, Inc. was born and fund-raising began May 1, 2016 to fund our study and possibly international efforts to study the RCCX.
Please join us on this adventure. Read the RCCX Theory on www.rccxandillness.com and consider supporting RCCX Project, Inc. with a donation at www.rccxproject.org. Karen Herbst MD PhD and I are both volunteering our time as we feel that this is groundbreaking and desperately necessary work. Please help us by spreading the word!

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3 thoughts on “RCCX Project, Inc.: Explore Role of RCCX Module in Familial Chronic Illness Clusters”

  1. marilyn ann seenes

    I would like to know about the possibility of being in your study.i am desperate to find the cause of this thing that all comes seemingly from my mom’s family.im bipolar w sjogrens fibro and PTSD glaucoma bad allergies I been getting shots for 10 yr for them.asthma etc etc my mom died from the crippling effects of fibro she was beyond bipolar not sure what her mental DX was but she had them.my daughter is being DX possibly w decrums has sleep apnea anxiety allergies.my son I swear is autistic super lite but only DX is add and arthritis allergies.my sister has asberger more than likely my brothers too.we all have fibro I think even my 15 yr old grandson has it.i have been convinced for years there is a connection between all the mental and physical problems in my family.my g GMA had RA fibro and her sister never married due to taking to her bed often due to mystery illness.their mother had Parkinson’s.we are defendants of the Mennonites and quakers.i need to help my children and grandchildren figure this thing out as best I can.these diseases are hard enough to live with but having information is power.we need to know what and why our bodies and our minds process and react the way they do thank you I already feel like this is the right track and I’m grateful!

    1. SHARON MEGLATHERY

      Hello Marilyn,

      Thank you for reaching out and providing so much information. You sound like you and your family fit with RCCX mutations. Please consider joining the FB Group: RCCX and chronic illness discussion group to discuss research and see what has helped others. We would love to have you. Also, please write to me at [email protected] so I can put you in a study patient folder and I will be sure to send you a questionnaire when we are ready.

  2. I would be happy to be part of your investigations. I am hEDS, have CFS, OAS as well as several other allergies, also migraine, GI issues now at polyp level, and a past diagnosis of FM. I have flares that appear to be adrenaline or histamine dumps with appalling anxiety. My 2 adult children have all the same dx, some even more severe, plus hemiplegic continuing migraine, appalling periods and bladder issues, and POTS symptoms. One has an ASD dx, the other ADHD. Just to add to the fun we have a terrible cancer inheritance in the family – BRCA and haematology. If you think we can be of any help, please do get in touch.

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