thank you for sharing. Could you tell me what doctors were assuming when certain symptoms would appear? Also, do you remember which symptoms appeared first? 🙂
This does not lend itself to brevity. I apologize in advance.
I was born mast cell active; I don't know too many infants who were immediately allergic to breast milk
😉 But, having been born in the 80's, systemic mastocytosis wasn't the first thing on most docs minds but autoimmune disease was. So when, at the age of 4 or so, I started complaining of joint pain (with a significant family history of lupus/RA/Hashimoto's/UC/Sjogren's/Scleroderma/etc.), they started looking for JRA and associated diagnoses. Everything - at that point in time - came back relatively normal with the exception of my CRP and sed rate (both chronically elevated but assumed to be associated with my almost constant allergic reactions to everything in my environment). It wasn't until I was 12 and saw the (in)famous C. Stephen Foster at Mass Eye and Ear that I had any true autoimmune dx (HLA-B27+, sky high IL-6, bilateral T-signs on a B-scan, and L4-L5 degeneration and evidence of spondyloarthropathy; posterior scleritis and ankylosing spondylitis FTW!).
I also started horseback riding at the age of 3 and by the time I was 6 I had several horses and was jumping competitively 3-5 days a week. So when I began to present with ankle pain, subluxations, dislocations, and soft tissue injuries, it was assumed that they were all sports related. Keep in mind, EDS patients are not always ridiculously hypermobile, nor do they always have hyperelastic skin. Each type of EDS has it's own hallmarks; the type I have makes us relatively hypermobile but I'm not going to be stuffing myself into a box, and my skin has normal elasticity. It's my tendons, ligaments, and vasculature that present significant problems and that can truly only be seen on biopsy.
It wasn't until I developed chronic pancreatitis around the age of 15 that my team of docs started to sit up and pay attention. I kept landing myself in the hospital for weeks on end on TPN with very little relief. I went in for a lap chole which resulted in some heinous scarring and also wound up with an appendectomy after discovering a chronically inflamed appendix with a completely obliterated tip, and ultimately some really crazy pathology (including a massive number of mast cells, and yet no one thought to do any IHC staining for tryptase...and this was done at MGH with path sent for verification to BWH...go figure). I had some relief, my amylase and lipase came down considerably, and then a few months later we were right back at it. I was in for stabilization and TPN; a few weeks before they'd found a hiatal hernia on an EGD and there was some discussion of wanting to go in and do a fundo when things quieted with my pancreas. Mind you, I'm reacting to every anesthetic, narcotic, NSAID, abx, and a few antiemetics that they are throwing my way and that is still being ignored, but I digress.
I've always been interested in science/medicine and since my GI and rheum felt sorry for me, they'd try to get me as many perks as they could. One of those was sending residents and fellows to chat with me when they were passing by so I could ask questions and learn a bit about what they did (mind you, 5 or 10 minutes at MOST and for the most part I'm sure they were interested in my case). One of those was a genetics fellow who happened to work with one of the preimenent EDS researchers in the area. When we got to chatting about my history (at that time, they'd dx'd Sphincter of Oddi dysfunction secondary to biliary dyskinesia and were planning an ERCP with biliary stenting once my pancreas settled again), he got curious and did a perfunctory Beighton scale test; I was a 7/8. I had an appointment with Joan Stoler (now at Children's) scheduled for the day I was discharged; the dx quickly followed. Had it not been for that one fellow who wasn't even seeing me as a patient, I don't know how long I would have gone or how many procedures I would have endured before we figured out what was driving this issue. The fundo was canceled, I had a sphincterotomy instead of stenting (an issue of scar tissue development), and all of my future orthopaedic surgeries were done with a lot more care, caution, and allographs
😉
As to the ASM, and ironically given a comment above about patients self-diagnosing with WebMD, I stumbled across that while I was doing research on extra-intestinal celiac and it's mimicking presentation of ALS in a case study from 2005(2007 maybe?). I was researching full-time at that point and this had come into question in regards to patients who were presenting with positive MRIs but an abnormal degenerative progression. I started digging and somehow came across mastocytosis and realized that I had every. damned. symptom. So I went to my immunologist and asked for him to get me in to see Cem Akin and a heme/onc. The short of it was that FISH staining of my BMB was negative, but no further IHC stainings for either CD2 or CD25 were performed, so for a number of years I operated under the dx of MCAD. Gut biopsies with positive tryptase staining of more than 20 cells per HPF made them go back and restain my bone marrow and do a few other biopsies (as related to some wonky LFTs and kidney functions) and voila, it's ASM. Median survival rate of 41 months and it's thought that I've been at it for almost 10 years (though it's hard to say when actual conversion from SM to ASM occurred). So now I live on a bunch of fun pharmaceuticals like Solumedrol, Xolair, Ilaris, Actemra, IV benadryl, Zyflo, cromolyn sodium, and Gleevec. I was just accepted into the NIH's mast cell clinic and am being evaluated as a candidate for a stem cell transplant which will basically be my only hope of going to med school; I only received the official dx of ASM a few weeks ago. Explains why things have been getting progressively worse for so long! At least my master's is online and I'll be able to finish that. Small victories, I suppose
🙂
Moral of the story is that sometimes a zebra IS a zebra and sometimes they walk into your office with something you haven't even thought of in a decade. Don't ignore the whole patient and definitely don't ignore their story, even if it seems unlikely. A lot of us (Marfan's, EDS, mast cell, etc.) don't ever look sick until we're actually dying. Pay attention anyways, you might - quite literally - save someone's life.
