When is a diagnosis not a diagnosis…
Welcome to the weird and mixed up world of Allergy/Immunology Mast Cell debates.
A few folks have been asking lately --- "I thought you finally got a diagnosis - it seems like you're still searching for answers?", so I thought it might be time for an update.
Here is the deal with Mast Cell Activation Syndrome:
- There are A LOT of people out there, who are very ill, and no-one is able to explain exactly why. Some of these patients are truly "undiagnosed" - some are misdiagnosed or are living with a diagnosis that we don't really understand (ie: CFS, Fibromyalgia, "psychosomatic" disorders).
- A few years ago, an oncologist who had been treating Mastocytosis (the cancerous version of MCAS), started seeing a number of patients who had all the hallmark signs of Mastocytosis, but were failing the standard tests to check for it.
- These patients, it turned out, DID meet an obscure set of diagnostic criteria set by the World Health Organization for "Mast Cell Activation Syndrome".
- Also, these patients, incredibly, Responded To Treatment, as if they did have MCAS or Mastocytosis.
- Note: basically the difference is that in Mastocytosis, your body makes too many Mast Cells, and in MCAS, you have an appropriate number of Mast Cells, but they are over-reacting and releasing a ton of biochemicals that cause all sorts of problems. Mast Cells are responsible for allergies -- they are the cells that release Histamine. But they can also release a bunch of other biochemicals. Unfortunately, we can only test for a handful of these, so it's hard to prove exactly what is going on, unless you have elevated levels of Tryptase.
- MCAS was quickly picked up by a number of doctors and patients looking for answers, and many of these patients saw relief from all sorts of symptoms
- As it gained traction, however, more and more undiagnosed patients who have been incredibly sick and living without any answers, started showing up at random Allergy offices, requesting to be evaluated for MCAS.
- These allergy doctors quickly became overwhelmed with complex patients who did not meet the 'traditional' criteria for MCAS OR the traditional criteria for allergies in general. (ie: these patients had a normal Tryptase test, and often even failed skin-prick tests).
- This has led to a tremendous push-back from the Allergist/Immunologist community. Doctors are working to change the guidelines for diagnosing Mast Cell Disease, and are actively pushing back against the patients who are flooding their offices looking for answers.
Here's the thing -- there are a lot of moving pieces going on and I can see several sides of this.
- Dr Afrin's book probably pushes things a bit too far.. I look at it as a compelling hypothesis, but one that still needs rigorous testing. (Once you have a shiny new Diagnosis hammer, everything looks like a nail....)
- However: there IS a good deal of evidence that this could be a big clue to the crazy symptoms experienced by patients with a wide range of Autoimmune diseases, as well as a clue to what is going on with some undiagnosed patients
- Trying to navigate the medical system as an undiagnosed patient is one of Dante's circles of Hell. I continue to be astonished by the arrogance and carelessness of doctors when faced with a patient they don't know how to help.
- At the same time, I sympathize with doctors who are being overwhelmed with patients who are not in their normal wheelhouse.
- However -- I would expect a doctor who disagrees with this diagnosis to say: "huh, that's not how I understand that disease and I don't feel comfortable commenting on it or treating it." Instead, I have personally experienced appointments where the doctor responded with a condescending, insulting lecture that would drive many other patients from the traditional, science-based medical community entirely.
Somewhere in this, we have lost sight of the fact that:
- patients are suffering,
- it is a Good Thing when they seek out traditional medicine for answers,
- and that this seems to be a reasonable, intriguing hypothesis that needs to be thoroughly tested.
For solid, science-based information about what we know and don't know about Mast Cell Disease:
- I highly recommend Mast Attack (A website maintained by a scientist who was diagnosed with Mastocytosis.)
- Also, Science-Based Medicine's Mast Cell Activation Disorder - Yes It's Real
- There is a lot of crossover with this disease and Ehlers-Danlos Syndrome. They are doing a lot of good investigative and advocacy work. (EDIT: corrected to show EDS is considered a connective tissue disorder, not auto-immune)
- Mast Cell Activation Syndromes - A Current Perspective by Dr Akin, published in the Journal of Allergy and Clinical Immunology
The one thing that gets me about all of this, is the giant elephant in the great Food Intolerance and Allergy Controversy is this: Migraines.
Migraines are widely accepted to have crazy, weird food triggers, and importantly: we don't really understand why. There is a TON we don't understand about what happens in migraines.
Also: a large majority of my symptoms would, under slightly different circumstances, fall easily under "complex hemiplegic migraine". And in fact, a couple doctors (including at least one neurologist) have suggested I am stuck in some sort of weird, semi-permanent state of this.
But because it never completely goes away and doesn't follow exactly what doctors expect for that to look like… well, it's just like every other theory out there. This is either something new that we don't understand, or it's a very weird version of something we sort-of know about but don't really understand.
I will just end with this:
- This month with mark 5 years with this crazy illness.
- It has been almost that long since I have had a piece of pizza.
- It is Not In My Interest to limit my diet so strictly. It is hard. And isolating. And a huge pain in the neck.
- If you can tell me how I can go eat a piece of cheese and a piece of bread and NOT have blinding nerve pain, I will kiss the ground you walk on and phone in my order to Mellow Mushroom right now.
- There is no traditional neurological medicine (ie: Gabapentin, Topomax, etc), which has helped the nerve pain in any appreciable way. While, inexplicably, but miraculously, KETOTIFEN* (a Mast Cell Stabilizer), has made a huge difference in all of my symptoms.
- Moreover, while the Gabapentin may have had a tiny effect on the pain, it definitely wasn't stopping the process -- after the pain recedes, the area that it was hitting is then numb, losing the feeling of 'sharpness' and hot and cold, and if it's in a place like my hand, or arm, or foot, the area is then weaker and I have motor control issues. It's subtle, but I am right-hand dominate and my left side is definitely the stronger one now. On the other hand, Ketotifen seems to reduce the entire reaction-process, meaning that I have not lost as much motor function with each attack as I previously was losing.
- I get that it doesn't make sense and there isn't an easy explanation for it, but before jumping on the "this is the next crazy thing that weird patients will latch on to" bandwagon, I would just ask -- what would you do if you were faced with crazy, life-altering pain, doctors had no answers, and you found something that actually helped? What if it was someone you cared about and respected in this situation?
Finally, as a patient, it sucks to hear "I don't know, and I don't think I can help you", but that's a message I am prepared to hear.
But MCAS is NOT the next anti-vaccine campaign or Opioid crisis.
There IS some science behind this, and it is time to find a middle ground.
This is probably not the answer to life, the universe, and everything.
But it does seem to explain a few things that we haven't understood before, and absolutely warrants more research.
At this point, I am just advocating for patience and respect -- for those living with illness and needing answers, and for the doctors that these patients are seeking out.
*Part of the pushback for ketotifen is that it has to be ordered through a compounding pharmacy.
Here's the deal:
- It IS FDA approved in the US in the form of eyedrops and asthma inhalers.
- In other countries (Ie: Canada, Europe), it's approved in pill form.
- It isn't that it's some wackadoodle drug or questionable supplement -- the drug companies in the US decided it wasn't cost-effective to jump through the FDA hoops to get it approved.
- See also: the very long list of old-school meds which are now impossible to find, aka: "Orphan Drugs".