DoozlyGirl

Hi. Congratulations on finding some answers. I haven't been on this site for a long time, but saw your post come through in my email. I have been managing OI for 7 years and MCAS for 4 1/2 years and a few things popped in my head when I read your post. Take notice if you react to the Gatorade, as many with MCAS degranulate/react to the dyes and preservatives. Also many with MCAS can't tolerate beta blockers, and betas are contraindicated in patients who carry epi for anaphylaxis. If betas are absolutely necessary, you may need to carry glucagon to overcome the effects of the betas in the event you need to epi. In my own case, I have found managing my MCAS eliminates my OI symptoms, so my mast cell regimen and avoidance/figuring out my triggers really allowed me to get my life back. Best wishes on this part of your health journey.

Hi all, its been a while since I've been here. I did the 23andMe testing several years ago, and have been able to make significant progress in regaining my health due to the things I have learned from my genes and biochemistry. The FDA's issue with 23andMe is that they are providing medical advice in the form of their medical reports and have circumvented the typical approval process for medical devices. 23andMe continues to sell tests and provide the raw data, which many use one of several programs to parse out their genetic data from the raw data and they are now pursuing medical device approval. All of the laboratory processes are performed thorugh an accredited and FDA approved lab, so no worries here. I have a friend and family memebers who have recently submitted samples. I highly encourage others to consider this test as a tool to learn more about your own biochemistry, as long as you plan to follow up on the data and find a local expert to help sort it all out. Best wishes, Lyn

Katrina, i have been diagnosed with MCAS by Dr Afrin. There are over 100 different known mast cell mediators, likely up to 200 (per Dr Afrin), and the various symptoms are likely related (at least in part) to the various mediators that are released during mast cell degranulation. I have very pale skin and flush all the time, have frequent headaches, and have plummeting BP as my primary reactions and a few times a month have vomitting, or big "D". Many MCAS folks consider themselves to be a leaker, shocker or both. This describes how the mediators are released: slowly a bit at a time or explosively all at once. I do both. And my symptoms point to histamine, and prostaglandins, but my positve testing showed TNF, heparin, NSE. Flushing is NOT required for MCAS. Some itch, some have hives, welts or a rash, or have swelling or angioedema and don't flush at all. Any skin related symtoms AND symptoms from a second organ system (plummeting BP, GI cramping/vomiting, "D", throat tightness, breathing issues, etc) consitutes anaphylaxis, and points to mast cell activation. There is some suspicioun that JHS is actually a form of EDS, which has been implicated in MCAS, as mast cells are located in connective tissue. If you are consistently having symptoms, it could mean you are in what has been described (by one of our own members) as low grade anaphylaxis all the time. That is what happened to me. I had to eliminate any possible triggers in order to lower my bucket enough to see that my symptoms finally had a beginning and an end. Eventually I went from 'leaking' all the time with worsening crises to having periods of no reactions,with minimal reactions and moderate shocking, and with occasional major shocking. Synthetic chemicals (FD&C dyes, perfumes/scents, artificial sweetners. MSG, preservatives, sulfites, parabens, benzoates, alcohol, etc) are my worst triggers. It is possbile your foods, environment and your meds could be filling up your bucket. Just something to think about.... Best wishes in connecting your dots, Lyn

Here are several publications that I have found. Hope none of them are duplicates what was already shared in this thread. http://www.nejm.org/doi/full/10.1056/NEJM200002243420803 http://www.ncbi.nlm.nih.gov/pubmed/12438171. http://www.ncbi.nlm.nih.gov/pubmed/11458707 http://www.ncbi.nlm.nih.gov/pubmed/12589229 Lyn

This is absolutely riviting news, Issie! Congratulations, you hard work has paid off in a huge quantifiable way -- proof that nutrition/diet and getting at underlying core issues can move one towards health. Please keep up posted on your progress. Lyn

Welcome Shelley, I was diagnosed with autonomic neuropathy and orthostatic hypotension which we later learned that my immune system (MCAS) was holding my autonomic nervous system hostage during my anaphylactic reactions to everything from meds, foods, CT and MRI contrast, personal care products and home products, and other items. I do see many similarities and believe mast cells could be involved in your reactions, especially delayed food reactions and to CT contrast. You'll want to share these documents with your surgeon and anesthesiologist as they include important information regarding mast cell degranulating medications and surgical considerations in mast cell disorders. http://www.mastocytosis.ca/symptoms.htm http://www.mastocytosis.ca/sa.htm While both POTS and MCAS are syndromes, this means they are actually collections of symptoms, and are not diseases. They do not indicate the cause of your issues. I have recently learned that I have many transciption errors in my DNA that point to decreased efficiency/blocked enzymatic pathways within the biochemistry of my phase 1 and phase II liver detoxification systems. MTHFR falls under phase II and is a really important indication that you can't properly convert inactive folate to active folate, as well as hosing up dozens of other critical functions. In general, these SNPS - single nucleotide polymorphisms/DNA "mutations" are due to methylation issues. I'd suggest pursuing further testing to look at other mutations/SNPs that are impacting your biochemistry and causing your immune system to go into overdrive. I believe your infections (candida/SIBO, miscarriages, GI issues, strep, food allergies) are likely attributed to methylation issues. Google MTHFR and begin reading about 23andMe geneome testing, MTHFR testing and importance of looking at additional SNPS. Dr Amy Yasko and Dr Ben Lynch are also both credible resources. Good luck with your surgery. Lyn

Dr Theoharides at Tufts in Boston does not see patients, as he is not licensed to practice medicine in the US, but he is one of the top mast cell researchers. Dr Castells is at Brigham and Women's in Boston. Here is a list of mast cell docs who sit on the TMS medical advisory board. http://www.tmsforacure.org/medical_board.php

tpapik, How horrible! I totally agree with what's already been posted. What in the world gave your doc that impression??? Morphine is often considered the most degranulating medicine out there. Even healthy people have issues/adverse reactions with morphine. Mast cells are readily found lining the GI tract and any other tissues that interface with the environment, such as the skin and lungs. Mast cell neoplasms like leukemia and lymphoma are EXTREMELY rare, like only a couple of hundred cases on the books rare. Most of the folks on several sites I'm on have issues with both, so I hope this gives you some comfort. The first step is a tryptase and if that falls below 20, then systemic mastocytosis (SM) may be ruled out. Once SM is off the table, then MCAS should be explored. Take care, Lyn

Thanks for bumping, Issie!

Hi Darlene, I am glad to hear your procedure went well and that you did not react. The Nuc Med V/Q study you had done is primarily performed to look for blood clots in the lungs. This study has been around for nearly 3 decades. In recent years, improved imaging capabilites of CT scanners have made the CT scan a viable option looking for blood clots in the lungs. Since CT scanners are manned 24/7, it is often more conventient and less expensive on call payroll to just have the patient have a CT scan than to call in the Nuc Med Tech. Patients with a history of reactions to CT contrast, may likely tolerate the radioactive tracers used in the V/Q scan. I've read that Dr Castells has recommended that patients premedicate for any imaging procedure, no matter if contrast is administered or not. But it is the call of the ordering physician. As Ana has often shared, there are numerous imaging procedures to investigate any number of concerns, and short of looking for an erupting aneurysm, there are multiple imaging options available that do not require contrast media. Don't be afraid to ask your doc about those options. If your doc doesn't know the available options, have them consult a radiologist. There are other imaging modalities to consider: CT without contrast, ultrasound, MRI, nuclear medicine, x ray, echo and others. Best wishes, Lyn

bebe, You really don't want to go through your insurance company to get your medical records. :] In the US, release of medical records requires a signature (HIPAA) if the records are to leave the healthcare system. You can request a medical release form while at the doctor's office, fill it out and put on that date and when the records and blood or testing comes back, they will send you the records or you can pick them up and you will most likely require to show an ID. Or you can fax back the signed form later. Some healthcare systems may even have the form on a website or can fax it to you. I keep copies of medical release forms for each healthcare system in a folder. I am personally not comforatable having my records faxed, as there is NO real security with faxing, as the person sending them could easily fax them to the wrong fax number, with your name, DOB and SSN on them. You wouldn't believe how often that happens. In my old job, I got medical records by mistake on my fax machine several times a month. I keep my own records and when a new doc out of the healthcare system wants my records, I bring them my records and have them make copies from mine. I don't trust that others are going to correctly determine which records are important to provide. I learned the hard way when I was referred to Mayo and my referral was rejected. I later learned that they only saw 28 pages of my medical records. And no one could tell me which 28 pages were sent. I'm not sure if this works in other parts of the country, but this has always worked for me. When requesting medical records in bulk, you will likely be charged per page. Most health systems will release medical records for "continuing/ongoing medical care" [one of the choices on the form] and not charge the patient as long as under their threshold to charge. My former employer used 10 double sided pages/5 pieces of paper as their charging cut-off. If only a few pages are requested, then they send at no charge. I've gotton into the habit of requesting medical records by date of appointment. So If I see two docs in the same day, I will fill out one form for each doc and most assuredly those individual records will be processed separately and be under the threshold for charging me. If I filled out one form for both docs for multiple office visits, it would cost me money. You can request a copy of any medical imaging procedures on CD and the report as well. If you permanently move/change to another health system, I suggest permanently checking out your medical imaging films, as once you are no longer an active patient there, they will destroy your films. Your new healthcare system may scan in those films or want to keep them on file. If not, keep them at home until you need them. Each healthcare system sets up their own retaining policies. Inactive films are usually destroyed within a few to 5 years, while mammograms are kept longer. These days most imaging studies are performed digitally, but you'd be surprised how many still have hard copy films. Digital images are kept longer, as there are minimal storage issues compared with actual folders and films. I agree it is quite important to get a copy of all your records and review them when you get them. If you find any errors, it is important to get those errors fixed in the medical record, or those errors will follow you. The ordering/dictating doc is required to maintain accurate records, so they should be the one to help you get the information fixed in your records. If they won't/can't help you, then go to the medical records department at the hospital/clinic and ask to speak with the manager/director. Most healthcare systems have moved to electronic medical records supported by the hospital, but you may need to request records with individual physicians verses going to one place - Medical Records/Informatics Department. It depends how they set it all up. Note that they likely won't release records for other physicians from out of network. So even if Doc A referred you to Doc B and Doc B sent your records to Doc A, you would most likely have to request records from both Doc A and Doc B, as Doc A likely won't release those records. The content of your medical records belong to you, but the form/media of the records belongs to the healthsystem. So don't let anyone hassle you when trying to get access to your records. I know I gave you way more information than you asked for, but hope this information is helpful. Take care, Lyn

Once I got past my hangups about having the placard in the first place, I began calling it my "trump card" and use it when I need to, and keep it in my visor on days I feel good. i don't even think twice about it anymore, and have been glad I've had it dozens of times! Lyn

Darlene, As you likely know already, CT contrast is a common mast cell degranulator, so the mast cell docs recommend premedication. In case you ever need a CT in the future, you may want to send a PM to Ana, she also has MCAS and had a MAJOR anaphylactic reaction to CT contrast. I know she has done tons of reseach on contrast and MCAS. So you ended up with a Nuc Med V/Q Lung scan? How did it go? Lyn

Kris, Did he share WHY he thinks your issue is a localized problem and not a systemic one? Maybe it's both. His description of hypersensitivity thermogregulatory issues provoked by hot or cold sounds a lot like Cold and/or Hot Urticaria to me. And this is a mast cell disorder, which many have been diagnosed with before the term MCAS was even coined. Was the room hot or cold when you kept flushing during you appointment? And what happens if this guy is wrong? Does he have expertise in EDS or mast cell activtion syndrome? Because it is hard to connect the dots until you are in the weeds trying to understand the complexities of any of this. I'll be honest, the mast cell diagnosis is not the magic bullet, because then you have to figure out the whys/causes of mast cell issues. But I have learned there is NO MAGIC BULLET. Understanding mast cells has taught me what is happening in my body and how my misbehavin' mast cells are triggering my debilitating autonomic issues through anaphylaxis and plummeting BP. Learning about the things tht could explain why my symptoms come and go is a HUGE part of me being able to manage and accomodate my symptoms. This is allowing me to focus on fixing my broken biochemistry. Figuring out what is going on in your body and what is causing your symptoms and ill health IS DEALING with it. Best wishes, Lyn

Rama, I agree that the XMRV fiasco must be avoided in the future. What a terrible blow to anyone in the chronic illness world. While the work of Rick Van K has been remarkable and his presence is missed greatly in the CFS world, he is not the originator of the methylation concept in chronic illness. Rich got interested in CFS to help out a friend and used his research skills and experience at Lawrence Livermore National Laboratories to help his friend find relief from debilitating symptoms of CFS. From what I've read on Phoenix Rising, he learned of Dr Paul Cheneys thoughts on glutathione deficiency, found Dr S Jill James work on methionine cycle blockage, then stumbled upon the work of Dr Amy Yasko using these theories to treat autism, prompting him to create several versions of his simplified protocol for CFS based off the Dr Yasko's intensive and SNP driven protocol for autism. His simplified protocol was derived off generalities of what is likely happening in PWCs, and is not patient specific, in the way that Dr Yasko's protocol is. As far as I know, Rich's simplified protocol and theory did not have published clinical study data yet to back it, but there are dozens of people of several CFS sites that state they have found relief, and that efforts are underway to study his theories. His obit mentioned "Rich suggested that an existing treatment for autism might be used in the treatment of ME-CFS". Rich's Obit http://www.legacy.com/obituaries/modestobee/obituary.aspx?pid=160243735 In his own words, he talks about the journey he took in connecting these dots, Rich wrote. "I want to emphasize that I did not develop the Glutathione Depletion–Methylation Cycle Block Hypothesis out of thin air. The autism researchers had already provided a convincing basis for this model in that disorder. S. Jill James and coworkers did much of the clinical work that underlies it. Richard Deth and his coworkers had worked out much of the theory of the methylation cycle block and had applied it to autism. Professors James and Deth had been presenting talks on their work at autism conferences. The physicians in the DAN! project (as well as Dr. Amy Yasko, though I had not yet learned of her work when I began to understand the importance of the methylation cycle block) had already been treating autism cases by measures intended to lift the methylation cycle block. What I did was to apply the results of their work to CFS, and to present a detailed biochemical and symptomological case to support the proposition that this model also applies to CFS." Rich's Journey in Creating his Simplified Methylation Protocol http://phoenixrising.me/treating-cfs-chronic-fatigue-syndrome-me/treating-chronic-fatigue-syndrome-mecfs-glutathione-and-the-methylation-cycle/a-simplified-treatment-approach-based-on-the-glutathione-depletion-methylation-cycle-block-pathogenesis-hypothesis-for-chronic-fatigue-syndrome-cfs-by-rich-van-konynenburg-ph-d Dr James has 130 published articles on various aspects of methionine cycle dysfunction. Below is her shortened bio, and link to her current employer. From what I could find she had published in MTHFR, a methylation blockage as early as 1999. Much of her early work focussed on Down's syndrome and MTHFR/folate metabolism errors. Dr S Jill James http://media.mindinstitute.org/video/graphics/dls/2010/james_bioabstract.pdf http://www.ncbi.nlm.nih.gov/pubmed/?term=S+Jill+james http://achri.archildrens.org/researchers/jamesj.htm Dr Yasko is a molecular biologist, medical researcher, and naturapathic physician, who is often credited in linking together several adjacent cycles and looking at methylation as a whole in the methionine cycle (including transulfuration pathway), folate cycle, BH4 cycle and Urea cycle. She has also identified critical genes along these pathways to include in nutrigenomic testing. She also uses biochemical testing to evaulate if those SNPs currently contribute to enzymatic blockages. Her approach is to systematically open up critical pathways in a specific order using various testing methods to determine which steps to take, then after confirming that the SNPs correspond to specific biochemical testing indicating decreased enzymatic efficiency, she recommends various cofactors, vitamins and other molecules to open up those blocked pathways to ultimately resore functioning of these 4 cycles, restore natural inate detoxification capabilities, and produce ample glutathionine. There is so much more to it than this. I've been actively studying this for 6 months and am intrigued that I finally found tools to help me sort out my messed up biochemistry. Dr Amy Yasko http://www.dramyyasko.com/our-unique-approach/methylation-cycle/ Rama, I'd love for you and your wife to really spend some time reading up on Dr Yasko's protocol, and then share your thoughts, once you get a handle on her approach. I don't necessarily believe it is going to take all those supplements to get me well, but am finding great value in her line of thinking to help me make better choices and avoid things that trigger my mast cells to degranulate. If you are interested in more information, there are several 200 plus page ebooks available free of charge online that shares the bulk of her protocol. I'm currently reading this one, called Autism: Pathways to Recovery, with a link below. Her website contains all of her references. This book is meant for parents and patients to describe her approach. There are tons of her presentations available on her site with full references. http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf I may not be a PhD medical resarcher, but there are dozens of MDs, NDs, DO's and PhDs that are all taking note of this approach to sorting out chronic illness. I didn't know this world even existed until 6 months ago, and everyday I learn something new. It is underground for the most part, but PENN state, University of Arizona and UC Davis have opened nutrigenomic programs, so I expect this concept will continue to grow. Lyn