A "brief" intro before I start drilling you all with questions:

In May 2015 I took a trip to NYC with my family.  Walking tours for days took their toll on me and I came back home with very swollen and painful legs and feet.  I could barely walk.  After ice/heat/rest/elevation for several days, things were back to normal.

One month later I suddenly get pains in my right leg, like in the tendons and ligaments behind my knee.  Few days later, the left leg feels bruised and tender in the knee area (NOT in the knee joint).  Both legs are feeling swollen.  My GP examines me, orders RA/Lupus test, refers me to a Rheumy, and prescribes Celebrex (despite my reminder that I'm allergic to Aspirin/NSAIDs).  3 doses of the Celebrex and my chest is tightening more and more with each dose...GP agreed I should stop taking it.    Prednisone is prescribed.  Now my right arm is hurting too after a bit of writing. The rheumy appt is 3 months out, the pain increases, and I'm getting weaker day by day.

While waiting on rheumy appt, I go a different direction and see an integrative doctor.  Test results show I have low Vitamin D and very low cortisol.  Taking Vit D was a big help, but her methods to raise cortisol caused other problems.  I eventually stopped seeing her.  Meanwhile I also develop an itchy rash on the back of my neck that won't go away.  Hives?

Late Sept 2015 I hobble in to see the Rheumy.  Exam, X-Rays and very basic blood work reveal nothing. (I say it's very basic because another doctor described them as "taking my temperature".)  Rheumy says it's Fibromyalgia and prescribes Gabapentin.  I'm very hesitant to accept this as a final diagnosis and much more reluctant to take an Rx for it.  I also ask if the rash is a symptom of fibro.  "No.  You'll need to see another doctor about that."  His best advice was to educate myself as much as possible about fibro.

I start digging online and end up at a fibro forum.  The way the fibro patients describe their pain just doesn't fit what I'm experiencing.  So I ask them very specific questions.  When I ask if anyone else had a problem with hives, a very avid researcher suggested I read up on mast cell disorders.  Wow!  It was like reading my own medical history!  Drug reactions, food intolerances, unexplained pain, asthmatic responses...It's all there!

I gathered my personal info, printed out research and headed to my GP again.  I thought I'd have to convince him that I'm not insane, but lo and behold, he readily agreed with me.  BUT, he didn't want to be the one to test me.  His reasoning was he's not the one to treat me for it, so refer me to a specialist (Allergist) that can test AND treat.  Made sense.  I was relieved and felt like I was finally on the right track.

So I get to the Allergist and give a shortened version of my history.  I had my GP's backing so I didn't figure I'd need to "sell" my theory in order to get tested for a mast cell disorder.  But during the long pause as the doc looked at the computer, I said, "I know these disorders are rare.  Is it far-fetched to think that might be it?"  Without hesitation he said, "Yes.  Most people who come through here have nothing like that."  So he did a lot of allergy tests, repeated previous tests, but did NO test for mast cell disorders.  Big Shocker:  Test results normal.  RAST test gave me a list of "low" allergies (sensitivities) that I had figured out years ago.  (Mostly high salicylate foods and wheat which I've avoided for years)  So unless I want to go in for allergy shots, this doc has nothing more to offer me. His staff made this pretty clear.  

One kind staff member, the office manager, was given my records in order to fix a glitch in the online patient portal. (I couldn't access my test results) My records caught her attention because her mother has masto!  The manager wanted me to know that it took over 10 yrs and a trip to the Mayo Clinic before she was diagnosed.  She said if I suspect it, don't give up, but the allergist she works for is not the doctor that could help me.  Her suggestion was take all my test results back to my GP and have him find me a specialist that actually treats mast cell patients.  (He thought that's what he was doing!)

Since December I've also been seeing an alternative doctor trained in nutritional balancing.  With the supplements that he's determined are right for me, I've made improvements with many symptoms, but the leg and arm pains remain.  I'm still not able to walk, stand or even sit without my legs elevated for more than a few minutes without a lot of pain.  This disruption to my life is what causes me to keep pursuing tests and answers.  But honestly, I'm running out of patience.  I've lost any bit of trust I may have had in doctors.  I hate the ongoing cost of tests that reveal nothing.  I'm tired of expending the effort it takes just to get through a doctor's appt.  

I'm thinking if I'm on the right tract, I would be considered a "Leaker", not a "Shocker".  My life isn't at stake, but my quality of life has already diminished.  My GP asked me a good question: What do I hope to accomplish if I get a diagnose of a mast cell disorder?  My concern is if this is progressive, it would be better to find out sooner rather than later, right?  And if my pain is related to mast cells, wouldn't treating it ease the pain?  Would a "simple" tryptase test give me the information I'm looking for?   Do any of you suffer from pain as a result of your disorder?

I'd really appreciate input from the real experts, those who deal with these disorders daily.  Thanks in advance!  So sorry about how long this is.  But I guess that's how we all start, huh?

Hi Cindy,  

Sorry you're having so much pain and other problems.  It often takes a long time to get diagnosed unless you go to a mast cell disorder specialist who can do the appropriate testing to rule out other diseases that can cause similar symptoms.  Not all allergists are trained to diagnose different types of MCAD, and the rheumatologist may not have been thorough on that testing.  I would have hoped he would have at least ruled out any possible autoimmune cause

Have you seen a vascular specialist and/or a neurologist to rule out any of those disorders/diseases causing your pain?  There are a number of blood tests to determine what you do or don't have.  Often mast cell disorders are diagnosed after excluding other possible diagnoses.

If you can't find a mast cell doctor near where you live (try looking under the 'doctors' section on this forum), you might want to post your location and see if someone knows a nearby doctor who is familiar with MC disorders. Or check the tmsforacure.org website and see if any of the board members are near you.

Regarding pain, it can be common with these illnesses, or there can be other comorbid diseases, too, that cause pain.  Until you are diagnosed, it would be good to stay away from anything to which you know you're allergic.  The prednisone might not have helped because you don't have a mast cell issue, or the dosing might have been incorrect or you might need mast cell stabilizers and H1 and H2 antihistamines.  So you know, leakers can also shock under the right circumstances, so you might want to carry emergency meds, like Benadryl and Epipens.

Good luck finding a diagnosis!

Joan

Sorry, I think I wasn't clear about my prednisone comments.  I was saying that it is possible you don't have a mast cell disorder if the prednisone didn't work.  However, another possibility is that it might not have helped if the dosage too low or for too short of a period of time.  Many people need prednisone, mast cell stabilizers, and H1 and H2 histamine blockers all at once to stop an intense flare of symptoms.

Sometimes it's very clear from a person's symptoms, if all other problems have been ruled out, that they have a mast cell activation disorder.  From what you've written, I agree with you that fibro doesn't appear to explain all of your symptoms, e.g., the rash. it seems there still may be possibilities to rule out.  I suggested a vascular specialist and/or a neurologist to rule out vascular and/or neurological problems that could cause swelling and weakness.  

MCAS/MCAD is a diagnosis of exclusion.  If all other possible causes have been ruled out and if the meds normally used to treat mast cell disorders help alleviate symptoms, a diagnosis of a mast cell activation disorder can be made.

I don't think a different specialist would necessarily attribute your symptoms to FMS without ruling out other possible causes in their own specialty.  I would tell other specialists that I was diagnosed with fibromyalgia, but I want to rule out any other possible vascular or neurological causes for the pain and swelling and weakness.

Or, a mast cell specialist would be a good type of doctor for you to see, since you think your symptoms fit.  If they think other problems need to be ruled out, they will order any needed testing or refer you to someone else.  They also can give you a protocol of meds for MC patients that you can try.

Either way, you should trust your sense of what's going on and don't allow one diagnosis to dissuade you from seeking additional help for symptoms that might not be explained yet.

Hi Cindy,

I totally understand where you're at right now. I am a nurse, and it took me 3 years of VERY persistent MD visits, to get a diagnosis of Mast Cell Disease, Systemic. I went to Mayo, did 5 24-hour urine tests (finally kept the last 2 jugs on ice the whole time, and did end up with elevated prostaglandins--Mayo said you don't have to keep the samples cold, but is says on their website that you do need to). I also had a very high blood histamine level, and saw both Dr. Butterfield and Dr. Weiler at Mayo, and still didn't get a diagnosis. I did get diagnosed with Eosinophilic Esophagitis per Mayo gastro.  Dr. Afrin moved to MN, and I finally got my diagnosis immediately, when I saw him.

If you think the symptoms fit you, you're probably right. If you respond well to antihistamines, that is a sign you're on the right track. I did get most other things ruled out first. (Had MRI's, CT scan, and multiple blood tests, hormone levels checked, looked for pheochromocytoma). It is a very frustrating road, and it's not like you're looking for a pleasant answer. I can't believe any doctor would believe we would want this diagnosis!

I started treating myself, with the help of other mast cell people on this forum, and with my GI doctors help. I responded well to H1 and H2 antihistamines, and montelukast. Prednisone works to calm things down when I go into anaphylaxis. I have epi-pens on hand, and Benadryl, always. I was never sick my whole life, but 5 years ago, developed an arrhythmia and severe reactions to foods, then to smells, cold, etc...  When a nurse at Mayo mentioned Mastocytosis, and I looked it up, it was an aha moment.

I've heard people on the Inspire forum mention that the cromolyn (I think) helps with pain. I don't know if you've signed up for that forum yet, but it is pretty active, so you might get a good response. There are also many old posts on this forum that might help you.  Good luck with everything, and I hope you get answers, and start feeling better.

Cindy,  

It's great that you noticed the small improvements on the meds!  That awareness and sensitivity will help you a lot as you recover.  

It took me 16 years to get diagnosed and on the right amounts of meds to make a difference.  One doctor even said I would never find a doctor who could find anything more than he did, which was to find nothing!

Yay for persistence!

Thanks!  A lot of people do exactly that, from what I see posted.  

It wasn't easy for me to figure out what was triggering me and what to do about it with no real support from experts -there were none- and no forums or even Google for a long time. At that time I tested negative for SM.  Luckily it looked like atypical anaphylaxis.  After running through many medical specialists, I finally found an allergist who saw that allergy meds helped some and an internist who got me started on some supplements.  And in desperation, I became hyper-vigilant and hyper-sensitive to figure out how to be safer and feel better.  I credit yoga, drinking lots of water, and an elimination diet for finally turning the corner.

You will turn it, too, with knowledgeable medical advice and determination.  I also hope you will have an easier time figuring all this out.

Good luck!  Hope you find just the right doctor!