Progression of Cutaneous Mastocytosis to Systemic?

Mindy - my friend Celeste said that the NIH told her that the majority of adult UP patients eventually become systemic. 

I'd think the first (and easiest) step would be to do a serum tryptase and 24 hour urinalysis.  If your tryptase is elevated, the next step would be a bone marrow biopsy.

Thanks for that information. I would love some links, if your friend has any, from the NIH.

I have an appointment with my internist in late December. She ran some bloodwork and did an endoscopy and colonoscopy on me five years ago to see whether I was progressing to systemic; fortunately, everything was negative. At the time, she also wanted to do a bone marrow biopsy, but I was too overweight for them to get a sample. I've lost 75 pounds (of my own accord, fortunately) since then, so I'm hoping we can do a bone marrow biopsy this time. She said then that she wanted to do all the tests again in five years, so here we are. I guess I'm in "wait-and-see" mode right now...

It was just a comment Dr. Wilson made to her when she went in for her exam.

Congrats on your weight loss!  I hope they are still negative.

I'd love for the tests to still be negative, but I have my doubts. My iron count is very low, my red blood cell count is a bit below normal, my list of trigger foods has grown longer, I've begun having headaches 3 or 4 days a week, and I've had to start taking FloNase and Allegra year-round to control what APPEARS to be allergic rhinitis.  All of these have occurred within the last 2 years, since my son was born. We had to do a scheduled c-section for his delivery, and now I'm wondering if that might not have triggered a transition to systemic.

I guess it's possible.

I see you are in Ohio.  You know... it wouldn't be a terrible idea to try to get a visit in with Dr. Castells in Boston. 

Just a thought.

Julie

Mindy, Julie's got some really valid points there as to what she's heard and that of seeing Dr. Castells, however, there in Ohio you have an excellent doctor who is in Cincinnati.  It's Dr. Leonard Bernstein.  He's a known mastocytosis researcher too and although he's not considered the high authority that Dr. Castells is, he's still up there anyway.  He's been involved with some of the TMS conferences.   I, still, personally would go to see Dr. Castells.  She is WONDERFUL and knows the disease like very few doctors do, but if distance is an issue, you do have an excellent resource in Dr. Bernstein.   If you want I can give you his email address.  Just let me know.  You can also find out his information online for he has his own website I believe.  His specialty is allergies and he's an immunologist like Dr. Castells.  So, if I were you, I'd seek out a much higher opinion than that of your hematologist.

Mindy, what we are all working with is not just a very rare disease, but a singular cell within the body that MOST DOCTORS DO NOT UNDERSTAND.  This is something that Dr. Castells herself told me and this is the crux of the problem confronting all of us!   I've had each and every one of my local doctors get lost with me!  They see me reacting they know what the disease is that we are working with, but they are astounded and amazed at the tricks that I am doing!!  They don't know how to intervene on my behalf and they don't understand why what they do doesn't seem to do any good!  This is how it is for ALL OF US!!  LIKE IT OR NOT we are a group of patients who are in a group of all our own and this is what requires for us to sometimes step over our own doctors heads and go directly to the top!   

Here's a good example of how complicated we can be as patients, Mindy.    I'm confronting a situation which is really not so uncommon, an aortic aneurysm.   It's pretty common occurrance in medicine and it's even one that runs in families which is where I got mine.  However, this is a never before seen situation in a mast cell disorder patient!  It's a first!  Dr. Castells is working with me to try and help my doctors here in Brazil figure out how to deal with me.  For the past 2 years my doctors were thinking that they could handle me, but I woke up to the fact that they can't before they even woke up to it!  The methods of surgery are going to interact with the disease like no other kind of surgery does and it's going to take the highest qualified doctors in the country to work with me!  I even had to seek out international authorities to help us figure out whether or not I need to go into surgery now or not because my doctor couldn't figure it out!  She doesn't know the disease well enough to know its influence!  I had to seek out a cardiologist who knew aneurysms and had done work in mast cells in order to figure this out.  Not even Dr. Castells  nor Dr. Metcalfe could figure this out for their area is not cardiology even though they know the mast cells.  Even then, they aren't positive because until we operate, it's all theory.  Yet, in order for me to have help as to my heart and the affects upon it I need a high level cardiologist here in Brazil.  The cardiologist researcher, Dr. Basson, of Cornell U, sought out colleagues at Harvard on my behalf and they've found a doctor here in Sao Paulo for me.  Independant of where I operate, I still have need for a high level cardiologist, one who can begin to study the affects this disease is bearing upon my cardio-vascular system.  Nobody has studied masto to this extent.  Nobody knows how to tell any of us as to what the mediator release is doing to us directly upon our hearts.  It's so rare of a disease, and so uncommon for them to find patients, that there is not one single study done on the direct effects upon our hearts.  The study has all be concentrated upon discovering the disease itself and eventually it will fan out as to the effects it causes upon our other systems.  But this means that we must be our own advocates, seeking out those higher level doctors for our selves and not being complacent to "trust" that we are in the best hands for fear of finding that we are not.  If our doctors are wrong, we are the ones who pay for it, not them.  If they are wrong, then we are even more so for not recognizing that they may not know everything.  I was content to stay with my angiologist and cardiologist and hope that they could help me.  It took me some time to finally wake up and realize that it's not their fault that they can't find the answers - my case is too big for them!  I've outgrown their capacities.  It's my responsibility to seek out others who do have the capacity and go to them instead.  

So, Mindy, please excuse my strong feelings about all of this, it's because I'm living these realities of waking up to the facts.  It's hard coming to the realization that your doctors may not have all it takes to take care of you.  I'm not judging yours, for only you can know that for sure.  But remember, it's your life, you are the one who must live with the consequences of your doctor's decisions.   You do have options and choices and those decisions are only yours to make, not theirs.  So, please consider seeking out some higher authorities so that you can have the proper treatment, but also so that you can have the peace of mind that you need.

Lisa

My personal opinion is to go to the best right away. Why live and waste valuable days/months/years of not feeling well when you could possibly see the best and get closer to a "normal life"? I wasted 10 yrs because I didn't know what was wrong with me; I had never even heard of a mast cell. Once I found out, I found out who the top docs were (as in world renowned) and I got into Dr. Akin. I quickly got better and now I am much closer to that "normal life" than most mast cell disorder people. I would have hated to have lost more time trying the second fiddles. So, in other words, I would recommend seeing Dr. Castells....well, actually the very best is Dr. Akin in my opinion! However, I think that because he is MY doc. LOL.
 
Of course, this is simply my opinion and I know that Lisa wrote her opinion. Ultimately, it is for you to decide what best works for you. Yet another great reason that this forum exists -- to offer different thoughts on various subjects!

Hey Deb, I'm backing your opinion in going to the head honchos!!!  Dr. Castells has been tremendous help to me but I've also had help from Dr. Escribano and Dr. Metcalfe as well as Dr. Bernstein.  Although Dr. Bernstein's not such a big name as the other 3, he's right up there.  Yet, as we all know, distance is often an issue.   Yet, if I were back, living in Pittsburgh, where I lived for 10 years before I married, or living in DC which is where I grew up, and I had the money to travel, I'd be on a road trip to BOSTON!!!!!!!  NO DOUBTS ABOUT IT!!!!     And I really have to say I FULLY agree!  Gosh, the torture I've gone through with every single step of the way of trying to find the answers, if I'd had the chance to do it all over again, there is just no doubt in my mind as to what I'd do!   I'd be bee lining it right to Dr. Castells front, side and back door, pounding it down in an instant!   (Deb, after all of the male doctors thinking I was nuts due to my hysterectomy causing me psychosomatic symptoms, I've gone into BOYcotting the male doctors a bit! hahaha!)

But of course, you are right Deb.  Mindy, this is a personal decision, one that none of us can make for you and that you've got to determine what is best for your own health care.  We who have gone through so much and have seen what's available out there are merely trying to help you avoid some of the grief we've encountered and this is why we give you suggestions as to doctors.  Yet, you've got to know what's best for your own self.    I just hope that we have helped you to see that you do have options, more than perhaps you were even aware of. 

Lisa

Thank you all for weighing in and giving me a lot to think about. Based on much of what I've seen around here, I feel blessed to have received a diagnosis so early in my disease's progression (about 1 1/2 years after first symptoms) and to have only UP and some food intolerances so far. The only other reactions I've ever had were minor cases of hives to 2 different meds. Of course, with my iron count being low now, it's given me more cause for concern, which was what led me here in the first place.

My chief issue right now is that my husband is unemployed, and while we are fortunate that I carry our insurance coverage, we can't (at the moment) afford to go out of network with any specialists. Michigan and Dr. Akin aren't that far away, but even that trip is too expensive for us right now. I may look into meeting with Dr. Bernstein, though -- I'm only an hour from Cincinnati.

Mindy, I understand your money issues and unfortunately we do have to live within our means.  If you've already got a UP diagnosis then the majority of your battles have been one and it's now a matter of seeing if you have become systemic.  Dr. Bernstein is a well known masto expert.  He may not be as high up there as Akin and Castells, but he's done his own work with this disease and I've had a chance to speak personally with him about a year or so ago when I was seeking for understanding and answers.  Because I live in Brazil and we have absolutely no authorities on this disease here, I had to go back to my own country's doctors in hopes for answers.  He was one of the few that tried to help me find understanding and answers and I'm sure you will find him an excellent resources.   Dr. Bernstein told me that he does not need a reference from another doctor to see him.  If you call up his office and go ahead and set up an appointment I am sure that you will be more than happy that you did so.  He even told me that his prices, if you must pay privately for him, are reasonable for I was asking for help for a friend as well who has very allergic children and lives in Pittsburgh.   I've also told a friend of mine from Cleveland to also seek him out for his allergic grandson.   So, I think that you will find that he will direct you to the appropriate doctors to help you get the right testing done in order to figure your situation out.  And if you end up being a tough case, he's got all the connections you'll need to Akin, Castells, Metcalfe and Schwartz.  So, go ahead and try him out, I think you'll find that he's just what you are needing!   And then, when your husband finds new employment, if you still feel the need for a roadtrip to Boston, well, it's a great place to visit, isn't it?!