I apologize for not writing for a while, it’s been a very rough few months and a myriad of new and reoccurring symptoms. But more on that later.
Today we went to meet with a geneticist/ EDS testing specialist. EDS, or Ehlers-Danlos Syndrome, is a common comorbidity with MCAS and POTs. Since my rapid decline and now almost 100% bed bound nature, my joints have started “slipping” out of place. Actually it’s called Subluxations, AKA minor shifts of movements with the joints sliding slightly out of the proper place without doing anything to cause it, but it doesn’t require any type of emergency medical treatment like a dislocation. Ribs sliding around, TMJ, the entire adventure. My main doc saw my creepily flexible hands and fingers and decided pursuing testing would be valuable. So we did.
This specialist also works on mitochondrial disorders and a ton of other conditions, but main she sees tangled webs like mine and hyper-mobility in some form. Hyper-mobility is a generalized term for EDS style disorders (there are 12 sub-types of EDS and a few other styles of conditions that include hyper-mobility).
As of today, I am officially classified as Hyper-mobility Spectrum Disorder (HSD). This means I was on the cusp of hype-mobility type EDS but missing just one or two of the minor symptoms. So once again I’m half in, half out, of a condition. The down side to EDS in general is there is VERY little treatment options to help. There isn’t a cure. It’s either genetic or triggered by an autoimmune illness of some kind and the focus is entirely on management of symptoms. So basically more ineffective meds or physical therapy….sorta. It doesn’t shorten a lifespan or cause a death sentence or anything, it’s just more complicated.
The biggest problem is genetic testing is a small fortune (think 5k for the cheapest comprehensive and 20k for the specialized comprehensive). So that’s now out of reach. Could it change my diagnosis and rule out officially other forms of EDS (like the vascular version which poses some unique risks)? Yes, but again, as per her thought- it’s unlikely to yield results. The same goes for a mitochondrial study that would investigate if there is an genetically linked malfunction of my mitochondria. We can’t 100% rule anything out without a full test, but the cost is exorbitant, and disability income plus no insurance plus medication and IV needs = a massive monthly deficit that I can barely fathom despite living it. The same goes for in-depth autoimmune condition testing (AKA a ton of blood work and labs run to rule out or in other possible conditions) but we don’t even know what to look for at this point.
But this does put IVIG back on the table. Previously my main doc had serious concerns due to my immobility I could throw a clot (or have an allergic reaction to the actual infusion…). But this new person thinks it’s worth a shot for serious improvement. However, once again, it’s a financial impossibility.
I feel like I need to make a quick rant on this because it is driving me crazy- it’s not possible to be sick/chronically ill and live off disability. You just can’t afford it all and expect to have any kind of life. It’s also not possible to get the medical care you need or deserve on it. Most of my medicines or treatment options are already a nightmare for a normal insured person to get- but without insurance, it’s a far fetched reality. Medicare or Medicaid are nearly impossible to get and they will fight hard to prevent you from getting ANY specialized treatments- their answer is “well there has to be another cheaper option”…
Back to IVIG. Outside of good insurance, we are talking 10’s of thousands of dollars PER treatment. Not even something we can dream of despite it’s serious potential. Living with rare diseases plus disability means that you cant just go to any doctor and say “yea sure send in the prescription or physical therapy or whatever, I can pay for it”. It means choosing which has the best possible benefit and trying not to be disappointed you weren’t able to always pick the best. It also means constantly hearing “I don’t believe X,Y,Z is possible” from medical professionals, realizing that no big organization is ever going to fund your cause because no one “important” has it, and also accepting that pharmaceutical companies won’t make medicine or research for you unless there’s a big payout, AKA a lot of money for funding the research OR they can charge a fortune and know people will pay (which they do anyways and go in to debt over).
So, it doesn’t change much besides one thing- my lovely MCAS and POTs are likely part of the trifecta, which means they all overlay and coincide to some degree and are usually a permanent part of your life. This also means that there still won’t be any new treatment options on the table or scans or tests that can be safely done without a Herculean effort from all parties. As much as we want to pursue treatments and final testing for CIRS- that involves a special MRI in which I CANNOT get sick and throw up during, I cannot have my port accessed (so no IV anti-nausea meds), and the treatments for it are an actual risk because nothing wants to stay down in my stomach. But back to the trifecta factors. There isn’t a cure, just management and lifestyle adjustments, AKA kinda what I was doing before my world imploded.
Almost 2 years ago to the day, my life completely changed and now here we are. I’m not better, I’m worse. Despite extremely strong efforts from a Neurochiropractor (who is a god send in every sense) for my Dysautonomia (also POTs falls under this umbrella but we’ve confirmed both are at play due to a larger autonomic dysfunction playing a role here), my infectious disease main doctor doing his best to manage my MCAS and trying to seek help for my new stomach problems, not much has changed. I literally got told to go see another doctor because my GI doctor didn’t want to be bothered with the complexity of my case. So now we wait to see if UNC is willing to help again. The narcolepsy symptoms are back (yay….) I lost most of my foods again (I lived off toast and water for a while, now it’s mainly toast, boosted pudding, water, and cream cheese…) and the vomiting cycles returned.
I’m not going to be too too much of a Debbie-downer (I can devote an entire novel to all that crap), but part of me dealing with all this is learning acceptance of things we can change and control, and things we can’t. I can’t control my genetics, only how I handle it. I can’t change or ever fully eradicate my MCAS but I can manage it. Dysautonomia and POTs can’t be cured, just managed and recovery to functionality is possible. I guess I need to approach it once again like I always have for CRPS. It’s always going to be with me but I just have to try and force it back in its box of remission and hope one day someone actually figures out a cure. Or maybe I will. If my brain ever gets back on track.
Stay strong my friends
Life On Fire 