Hi Katie
Im so sorry youre going through all of this. Im not expert but I have a few suggestions for you.  Until you get more concise answers I would NOT take any beta blockers.. it could possibly make it much worse.

You need to see a mast cell expert and youre right, Boston wont consider you without positive test results--so you need to go to Charleston and see Dr Afrin.. he IS an expert and accepting new patients with much less proof in test results.

I would also ask you--Do you take antihistamines and do they make a difference to you? That is a defining question I think. If you take them and they help, I would keep pushing with a mast cell expert for answers.

Hope this helps you!
hugs
Ramona

Katie, do NOT get discouraged!!!!!!!   That's an order!!  

As to that tryptase, there are very few other disorders which will elevate a tryptase, so the field is very small as to what they can be.   Granted, your tryptase is in the " normal"  ranges, but one of the scientists from Harvard who I've been speaking with for over a year now told me himself that NORMAL people do not have a tryptase which goes over 0.9ng/mL.   He is doing research on MC mediators and MC involvement in other pathologies and he told me that aortic aneurysm patiens won't have their tryptase rise above 2.5ng/mL.   This information really helped my doctors for we are investingating all of my children for masto.  The information we are gathering is proving to be very illuminating.

My case is a proven MCAS and it's a suspected MMAS.  The profile for the MMAS patient is KNOWN to have normal tryptase levels.  Mine is 4.6ng.  We have proof of raised histamine levels, as well as other pathological damage which runs in line with masto behavior.  So, in gathering all these clues and exluding all the other diseases my doctors have NO DOUBTS that I have mastocytosis in some form or another.

In looking at my eldest son's case, we have found the MC aggregates, which in my case we have not yet found them.  There is NO OTHER disease which causes the MCs to clump, only systemic mastocytosis.  Since masto is a genetic disease, my son got his from whom do you think?!  Which paints more of my own cases picture.  We're still in the initial investigation of my son's case, but his tryptase is lower than mine - 2.6ng/mL.   But there is NO DENYING that he indeed has masto - we found the aggregates and that's concrete proof of the disease.   Can he be diagnosed as SM?  No.  He does not fulfill the criteria for SM. So his diagnosis is MCAS - like me.  

In looking at my 2nd son's case, he is also in the preliminary process of diagnosis and it may be YEARS before anything can be specifically determined.   He is showing the very same autoimmune markers that I have - raised ANA of 1:320, hypothyroidism and a tryptase of 5.5ng/mL - higher than mine!!    

My daughter has just begun testing and we're waiting upon her tryptase.  

My doctors are looking at my children through the shadows my case casts upon theirs.  Although my 2nd son's tryptase is 5.5ng/mL he has flushing and is sensitive to smells and heat and has gone through what we now feel were 3 episodes of anaphylaxis.  

Although my masto specialist knows that she can't openly diagnose either one of my sons with mastocytosis, she knows that this is indeed what we are working with.  She has no doubts and has put both of my sons on Ketotifen.  

Kate, obviously Dr. Bernstein is not his father and you've run the end of your line with him.   This lets us know where he is regarding masto.  

A doctor who KNOWS masto will no longer put all of his trust in tryptase results for they are finding that depending upon the form of the mast cell disorder, the tryptase will not be elevated.  And as according to the scientist at Harvard, anybody with a tryptase above 1ng/mL has something going on with them that has their mast cells releasing tryptase.  However, what  is the question.  Like I said, aortic aneurysms will raise tryptase as high as 2.5ng, and I believe that multiple myeloma will also raise tryptase, which is why they set the range for systemic mastocytosis for being 20ng, for no other pathology raises it consistantly higher than that except when a patient is in anaphylaxis.   But the issue here is finding out what has your tryptase above 1ng/mL?  

With your symptoms, Kate, which is what Dr. B wasn't considering, it is most likely a mast cell disorder.  What form is the question.  

Kate, if I remember correctly you had been speaking with Dr. Akin.   He's a lovely man, Kate, and he's fully understanding what Dr. B isn't getting.  Please write to him and ask his advice and if he would be willing to see you.   GO TO DR. AKIN!!   He KNOWs that depending upon the timing and the form of masto that you may not show positive markers, but  you could also be IA and that's a group of patients who don't show anything!!!

So, since you have already spoken with Dr. Akin, knock once again on his door and tell him what you are going through and ask for his help!!  I feel confident that he will answer you and open up the door for you.  

I hope this helps!

Lisa

I forgot to add - if I do have a mast cell issue, I guess I would be a leaker and not a shocker.  I feel bad for days, weeks, or months at a time.  However, when I first got ill I ended up in the ER 3 times.  They said it was anxiety.  I disagree.

Hi Kate,

My name is Lynda.  You have the EXACT same symptoms I have!  Every one of them. My diagnosis in the ER was also anxiety...every time!  I have diagnosed dysautonomia and undiagnosed POTS.   I told my story on this website a couple of months ago and with the help of others here, I "took the leap".  With Lisa's encouragement and mountains of articles she sent for me to study etc., I wrote my story and sent it to Dr. Afrin.  I can not tell you how amazing he has been.  I have never met this Dr. and yet he has taken the time to answer my questions and concerns EVERY time I have contacted him.  Last Friday my cardiac symptoms were so bad I called his office again...I was contacted within the hour.

My records arrived at Hollings Cancer Center this past Monday so Dr. Afrin and his staff could review them and I could set up an appointment.  To make a long story short, he had a cancellation last Friday and I am taking a trip in TWO days!!  Now THAT is a Dr. who really cares and WANTS to find out if what you have is really a mast cell disorder.  To me, that is worth anything is costs just for an answer either way!!  I highly encourage you to do what you HAVE to do to find the answers you need.  Don't let anyone tell you there is nothing wrong. (My tryptase is 3.53, methyhistimes were normal and NO positive allergy tests...yet I can not eat ANYTHING anymore without having a reaction of some kind).  I have lost 22 lbs. in the last 18 months and an additional 6 lbs. in the last two weeks. (My dream come true...until now!) haaaa    

Those of us who have suffered in silence for a very long time need to stand up and make ourselves heard. (Lisa is right...next it could be our children, or in my case possibly my sister's child).  You can do it.  If you need any support in any way, the compassion and care shown on this site is amazing.  They will walk you through step by step until you have the courage to take charge once again.

Although I am very new at this, I believe that everyone who has to live like this deserves to find the right diagnosis!!  

Take care.........hugs to you,  Lynda

Wow, ladies, you have no idea how PLEASED I am that you both are going to see these experts!!   Larken, you are going to LOVE Dr. Escribano, he is absolutely THE BEST and Kindest of men!!  I would so love to see him!  I've only had the honor to correspond with him, yet I'd give my right arm to see him!

Lynda, I'm so VERY pleased you're going to see Dr. Afrin.  I've only written to him a couple of times and he seems to be very caring.  From what the others are saying here, he will indeed take you under his wing and take a good look at what is going on.  

Ladies, thanks for the complements of how I may have helped you.  You both leave me wondering what more than I could say other than thank you for the praise.  However, I must say that in truth, I've not done anything that you weren't already in the place of doing.  You both have gone through the grinder with doctors, like I did.  By the time any of us are seriously working at investigating mast cell disorders, almoste everything else has already been considered and most likely ruled out and there isn't anything else left to consider!!  This is how it was in my case anyway, and so our only REAL impediment is that we are working with one of THOSE CASES where we are not obvious masto cases and this is why we and our doctors begin to lose heart for they, not being experts in masto, and we not having classic masto cases, find ourselves going around in circles ready to kill the doctor who says " emocional"  for this is the last possibility to consider in our cases and we know full well that this is NOT the case!!!

This is why we women, when we get to this point, are ready to explode because we know full well that our emotions are NOT the issue here and we become insensed at the absurdity of it all when our doctors end up saying it!!

This is why, Katie, I've told you not to get discouraged and encouraged you to go to the top for I'm certain that you are ready to explode with all of the going around in circles that you've done!  It's enough to drive any one of us absolutely NUTS and there comes a place when somebody must say STOP!  It's a shame that it has to be another patient for in truth it should be a doctor!  The only reason it's not a doctor is because they aren't recognizing it or else they would.

Kate, we patients have a benefit that doctors like Dr. B don't have - we have the time to study ONLY the one disease and since we LIVE IT, we are able to recognize it in other patients.  If you've honestly seen doctor after doctor and had things like hormonal imbalances, immune system imbalances and medication influences ruled out and you've had testing to rule out the carcinoid syndrome, then there is very little left to consider other than masto.  There is only one disease that is really considered the differencial diagnosis to carcinoid syndrome which is mastocytosis.  There are imbalances and disorders which are minor which can be considered, but only one other disease, so in ruling out the one, the finger automatically points at the other.  Very few medical situations will make you allergic without having IgE mediated allergies, so in considering all of these things, if they've all been ruled out, everything points to masto then.  But if you don't have a classic case, like what Dr. B was looking for with you, then you need to see an expert who NOWS masto.  Dr. B knows classic mastocytosis, but MCAS he does not.  Therefore, don't waste any time seeing if there is anybody else in your region for he was your last option.  Don't bother considering the Cleveland clinic either for there are no specialists in MCAS there.  You're closest and really only options are going to Dr. Akin and the Boston doctors or going to Dr. Afrin in S.C.  

Lisa

ATTA GIRL, KATE!!!!


I'm really PROUD of you!!!!!   This is how to do it!!


Kate, we MUST be our own advocates, we have no other choice!!   It's not the fault of our doctors!  Our disease is too rare and too unknown and only those doctors who really study it, understand it!  It's not their faults!

Dr. Castells told me once,  most doctors do not understand mast cells!   Well, here is an authority in the disease saying what the situation is out there amongst her colleagues!   If she recognizes this fact, then it's no wonder we patients go around in never ending circles, frustrated, hurting and feeling ABANDONED!!   It's awful what we go through, but it's not due to open neglect, but really only pure ignorance.  They just DO NOT KNOW mast cells and that translates to CAN'T RECOGNIZE OUR SYMPTOMS!  

So, it's no surprise that Dr. B couldn't see it, he's busy studying other diseases instead.   So, what you did is correct, that of coming back to us and asking what we patients think.  We KNOW our disease and that's because most of us have been through the very same process you are going through right now.  We've walked a mile in your shoes and I'd say about 10 miles in fact and our feet hurt just like yours do!!  

But the fact is, Kate, YOU KNOW YOUR BODY!!   You KNOW something's wrong and that it's not your head!  This is what keeps you pressing for answers and you are to be praised and congratulated for persisting!!   Congrats!!!!

Now, don't worry about getting to Afrin as far as the travelling aspect of it goes, we can give you the tips we've all learned so that you can prepare for it and Afrin himself can give you advice for he knows the trip is an issue.  But remember, if you are going to act up, then really, the place you need to act up is right in front of him so that he can see it!!  So, don't worry about the trip, all will be well!!!

Lisa

Hi Kate,

I am soooo happy you contacted Dr. Afrin!   My appointment went sooooo well.  One thing I did was to stay a couple extra days.  Because I had to travel over 1,000 miles it didn't make sense not to stay just in case he wanted to do some tests (and he did).  So if you can work that out before you go, that will be a plus!

He is VERY caring, VERY understanding and has a true desire to learn everything from his patients that he can.  Also, the fact that he will work with your own Dr. tells me that it is not about meeting a quota, etc. but truly a deep desire to help his patients.  He received my records (he said he literally read a REAM of paper just for the last 18 months)....and he just so happened to have a cancellation 4 days after getting them..... the rest is history!  (I know I was really fortunate for that to happen....I just call it a MIRACLE!!)

He said that my case was about as classic a case of MCAS as one can get!  So....now the wait for a diagnosis and hopefully the ability to find those nasty little things..... (He also contacted the medical facility that I go to in WI and asked them to take new cuts of ALL the blocks of biopsies that were done last year).  He told them how they needed to be stained, etc. and said if they weren't comfortable doing it, they could send them out to him.  He will also set up a "secure medical communication/via encrypted email" with you and the Dr. he will work with.  It is nice because you can see some of their correspondence as well.  It's nice to feel a part of the process and very helpful to learn everything we can...especially someone like me who never heard of mast cell disorders until I found this website!!!

I did fly there. I am from WI and it was just too far to handle that long trip. Besides, they called me on Friday (I had less than two hours to make a decision as to whether I would take the appointment) and I left on Tuesday.  I only booked one flight because tickets were so high and I thought I would book a second one when the prices went down.  Sadly, they just kept going up so my husband was not able to go with me.

The Hollings Cancer Center has a concierge who will help you coordinate your stay.  Just ask them.  That was amazing!  THEY booked my reservation at the Holiday Inn Riverview and they were unbelievable!!!  (You also get a patient price that way and a free breakfast!!)  They have many guests who are clinic patients and so they are used to special needs and requests.  They even cooked my meals the way I needed them to be done and made substitutes so I could eat there! (A bit pricey but well worth it to know I could eat safely).  I needed a way to collect a 24 hour urine and they froze my ice packs in their freezer and brought a refrigerator to my room at no charge (it arrived within 15 minutes of my request).  They have a free shuttle that drops off and picks up only three blocks from the Hollings Center.  It runs back and forth 6 or 7 times a day.  You just call when you are done at the clinic and they will tell you when they will be there to pick you up. Let them know at the desk when your appointment is and they will drop you off first if they need to.   They also have a list of safe taxi services to get you to the airport and back.  

If you have any other questions, please ask, OK?  I am so new at this... but I can at least tell you what things are like there and the experience I had traveling, etc.

Also...Dr. Afrin's nurse Kathy is amazing!!  He told me she knows more about mast cell disease than he does....  haaaa   She even sat down and drew me a map of how to get to the drug store to pick up a cooler because I had to transport my collection with ice.  I am sure she had a thousand things to do but she acted like I was the only one there.  How nice is that?

And also....I sat on the benches outside the hospital while I waited for the shuttle one day and I made three new friends@!!  People are sooo friendly there!  I came home with two email addresses and was given a phone number by one woman "Just in case I needed something when I was there or had a question".  Wow...I thought the Midwest had friendly people...nothing like the south!

I wish you all the best.  I am soooo glad you are pursuing this!!   As I said before, we need to be heard.  I am a breast cancer survivor and if I learned nothing else from that experience I learned that WE AS PATIENTS HAVE THE RIGHT TO ASK FOR WHAT WE NEED!!!  

Please keep me posted and let me know if I can help in any way.  Sorry I didn't write sooner....as many of you understand, even though everything went well there, the trip took its toll on my body after the fact!

Bless you......hugs, Lynda