I'm assuming everything that could be included in a differential diagnosis for your symptoms has already been ruled out.  If that's not the case, then that should be completed before considering a BMB.

Everyone has mast cells in their GI systems.  What matters is whether there are more than the normal number, whether they are in clusters (aggregates), and whether they are normal mast cells.  Even though the GI biopsies didn't show SM, it could still be there in the bones, which is why the doctor wants you to do the BMB.  Or it could be at the earliest stage in the GI system and the biopsies didn't find it.

Personally, if my tryptase had been normal, I likely wouldn't have done a BMB right then.  This might be a controversial opinion among some people, but it's a procedure that has some risks (degranulation, infection).  

I would have had my tryptase watched annually and taken whatever meds needed to alleviate my symptoms.  I would have tried to figure out all the triggers, food and other types, that were causing my symptoms and eliminated them from my life.  Then I would have tried to get healthy in every other way to keep my stress level low, symptoms at a minimum, and my strength high.  

Actually, I do have SM, and I did have elevated tryptase and a positive BMB.  But I also did all the rest, and I now live a pretty normal life, with minimal limitations.

The number of cases that progress into SM are thought to be low, but it's really unknown.  In 1993 my tryptase was normal and now it's not.  If you do decide to go ahead with the biopsy, just be sure to follow the REMA protocols absolutely and also make sure you, your anesthesiologist, and everyone involved knows about using un-preserved meds and saline in your IV and which anesthesia is safest for MC patients.

Note:  Others may think you should have a BMB to rule out SM, and they might be right.

I can see where a diagnosis of SM would be very helpful in a managed care system.  In the US, it doesn't get you much.  The most important thing is to know your own body and be confident when you tell doctors what you need... most will go along with it.  SSD determinations are based on how much your symptoms affect "major life activities," not what your official diagnosis is.

I've had a BMB.  Mine was negative.  Long story why I did it... it wasn't specifically to rule SM in or out.  I've had dental work that hurt more  Although my baseline tryptase has been slowly creeping up over the last few years, the only reason I would have another biopsy is if I thought it might change my treatment... and for that to happen, the number would have to pretty high!

Heather

Unfortunately, in the US you cannot count on doctors to manage any kind of long-term monitoring.  My GP, for example, is perfectly willing to order a baseline tryptase, but every year I need to ASK or it doesn't get done.  It doesn't matter what your diagnosis is.  Someone with SM can just as easily slip through the cracks as someone with MCAD.  

Regarding the ER... you could easily have a diagnosis and *still* have a doctor tell you it's "just anxiety."  On the other hand, most doctors are afraid of being sued (for good reason)... so if you're confident about what you need and make your demands known, there's a good chance you'll get it.  Does that make sense?  Probably not  I don't see it changing any time soon though.  In many areas of life (not just medical care), Americans have a hyper-inflated sense of individuality and entitlement.  An educated, persistent patient can get absolutely fantastic medical care... probably as good or better than any other country.  On the flip side, an uneducated patient who doesn't make waves can easily be ignored... in many cases, regardless of the seriousness of their medical condition.  (On a side note, when you're really sick, it's HARD to be that educated, persistent patient... and the insurance companies count on that).

Have you heard of "patient dumping"?  

https://oig.hhs.gov/fraud/enforcement/cmp/patient_dumping.asp

My guess is that this kind of thing doesn't exist in most countries with managed care... it would be unthinkable.

I'll get off my soap box now!

Heather

I have Systemic Masto and originally presented with a tryptase of 19.  Being the curious type (I worked in Pathology at the time) and wanted to get to the bottom of it, I had the bone marrow biopsy.  

I was diagnosed very early in the disease process.  On my first biospy, there were some abnormalities, but they did not find the c-kit mutation.  Subsequent biopsies picked it up.

Did it make much of a difference in how I managed the disease?  Hard to say.  I personally wanted to know what I was dealing with, and if I had to do it all over again, I would probably do it all the same way.

I get my check-ups, they keep an eye on it, and I learn to  take it one step at a time.  For me personally, "knowing the animal" took some of the fear out of it for me.  But this is what works for me personally.  I have had bone marrow biopsies several times now.  It's not fun, that's for sure, but I'm not as afraid of it as  I used to be.  To me they are more "annoying" now than anything else.  But, if you are very reactive as you say, then definitely you need to talk to your doctor and ask yourself if it would be right for you, and if the having an answer would affect your overall treatment and care in anyway.  That's a good one to talk over with your doc.