Reply from lisathuler

AHHHHHH!!!!!!!!!!!!!!!!!    WHAT IS WRONG WITH THESE DOCTORS THAT THEY CAN'T LISTEN???????!!!!!!!!!!!!!!   Here you have one of the HIGHEST AUTHORITIES who has made a simple request to contact him!   This is exactly what my own doctors have done - they are so easily intimidated but also so extremely independant that it drives me NUTS!     Oh Kim, I FULLY understand your frustration!!!!!!   What do they have to do, see Brie dying before they finally move?   This is why so very often I think that we patients just say OH THE HECK WITH IT, I'LL GO SEE THE DOCTOR MYSELF!  and we take ourselves out of their control and take the control back into our own hands!    My gyno was right - all mini dictators!


Kim, you have but one thing you can do to maintain that door open!   You must write to Dr. Escribano YOURSELF and thank him for his email and his interest and then explain the situation to him so that he knows that you haven't just let it drop.  You can even send your emails to your doctors and their reply to Dr. Escribano so that he can see the situation for himself so that at least he knows that you are trying to work with him and this will help to keep the door open at least.   Perhaps he can suggest a means of getting your doctors to talk with his.   I don't know what to do from here Kim, but at least you want to keep the crack in the door open with him and the only way I know to do that is to email Dr. Escribano explaining the situation.   Perhaps you need to see if you can find another doctor, one willing to speak and work with him, but then you'd still have the issues of getting them to following up!

Kim, what medical universities do you have near you?  I have noticed that university doctors are far more interested in complex cases and far more interested in talking with authorities than small town doctors.  Perhaps you want to venture in that direction.   There's got to be SOMEONE!!!

Write to Escribano Kim!   Don't leave him hanging, please!


Lisa

ps -  I'm upset about this!   I mean really, it's the same situation here at time too!   Why does the certified medical field act as though we patients are their property and that we're not able to make a move without their controling ever move we make?!  UGH!

Well Brie had to be rushed into the Dr. again today.  The baking soda rash and redness that sometimes flares into what looks like a burn on her chin has been there for 5 days now.  But this morning it flared into angioedema around her mouth, her entire chin, the tip of her nose and across the bridge of the nose and down the right side of her nose and under her right eye.  

He is just as baffled by this as I as baking soda is typically so safe for almost anything and for this to continue and even worsen over 5 days has him wondering just what is going on with her.

He said that he has had some time to research Mastocytosis and really thinks she warrents a bone marrow biopsy.  He was on the phone (while we were in the office) calling the pathologist who did her GI biopsies and the Dermatologist who did her hand biopsies and he is asking them to restain her biopsy slides for mast cells as I found out a few days ago that at least the hand biopsies were only stained for fungus and mucin. When I spoke to the Pathology Clinic about this they said "if there were mast cells there we would have been able to see them and we didn't."  Does anyone know if this statement is true?  I would think that if it is a severe clumping of mast cells this may be accurate but I question how this would apply to all cases. And why would they have special stains for mast cells if they can always be visualized by the eye?

He himself is arranging for an MRI (due to all of the neurological effects she seems to have) and because our local neurologists declined to take her case as it is "to complex."  

He is wanting me to take her back to Mayo since she is established there.  He even said that he will call her Dr.'s there personally and emphasize that they need to look into the diagnosis or he will send us elsewhere to someone who will.  

It is really paying off to have a local Dr. who is so invested and one that can see her day to day symtpoms that the Dr.'s 13 hours away from us can't see.
                                                                             Kim

Kim

Heather is 100% CORRECT!!   Whoever said that to you is an IMBECILE and does NOT know mast cells and how to test for them!!

Mast cells MUST be stained with one of either 3 stains - Geimsa, Toledine Blue or TRYPTASE which is considered the best of the three!!   The reason for this is that without the proper staining they can't be differentiated from any other cell for they need to see the granules inside of them to help tell them apart.  And since mast cells will break open and spill their granules, this complicates it further.   So, no, they did not do the proper testing and it MUST be done this.  

I'll take it further, there are SPECIFIC markers with the immunohistochemical testing which they MUST be submitted so that they can also see the other cells around them and see what shape they are in too!

Yes, I agree with you, this doctor seems to be really tremendous and a definite KEEPER!!

I'll send you the information for your doctors, Kim, as to doing the immunohisto testing.  

I'm sorry about the neurologists -  I'm not surprised though!!!  I've had these rejections left and right!  It's just too much work for them!   But to tell you the truth, Kim, I highly doubt this is neurological, this is cardiovascular!!!   How do I know, because I live with this and my neurological investigation proved totally NEGATIVE!   I'll bet you anything that she's going through vasoplegia like I do!

Lisa

Kim,

I'm going to add a couple of the markers to it:

CD34
CD45

These markers look at he leukocites to determine their normality.  These 6 markers together make up the bare minimum of the WHO suggested testing for mastocytosis.  There are others which are on the document that I sent to you - the immunohistochemical processes written by Dr. Escribano.  Read it, but also give it to your doctor.

I've been thinking about your having to go to the Mayo.  Kim, why?!  Why can't this be done there at home?  The doing of the bone marrow biopsy can be performed by a hematologist in your region if that doctor is careful.  Then you can have the same sent off to Boston to Dr. Castell's pathologists to test!  They do this!  

We can indeed work with our local doctors and find our answers, but it takes a lot of hard work!  Not a single one of my doctors except my masto specialist has ever worked with a masto patient before nor have they heard of the disease!  And yet, I've been poked prodded and turned inside out and we've done it CORRECTLY!   Why do you have to go to the Mayo, a hard, long drive for Brie?!  Why can't you get what you need done there, at home and go to Boston when you're finished?!   This seems to be much better idea instead!    But then I don't know all the logistics of it and this is just my thought.

Lisa

Kim,

I used to get that same burned chin rash from laying face down on my chiro's table. Sometimes on my forehead as well. Come to find out, I was reacting to an antimicrobial/bacterial that he wipes the table down with in between patients.  The burn lines would appear where ever my skin made contact w/the table, and would later blister and hurt, felt like a burn, too.  Funny thing, none of his other patients reacted to the wipes/residual. Now he always covers the table with a sheet before I get on it.

What type of neurological symptoms is your daughter having?  Hope you don't mind m asking. My son has had worsening neurological problems since age 4. He's now 28.

My heart goes out to you and Brie.  Hang in there!  It sounds like you're making some headway.

Deb Mc

Lisa;
   Thanks for your post and comforting words.  "Our little girl" is having a better week!!!! YEAH!!!!  She has even gone 2 days (not in a row) without any symtpoms - can't remember the last time she's done this.  On the  other days the symptoms are fairly mild - with the exception of a severe stomachache, diarrhea and "feeling wrong" last evening.  
    It seems that after her baking soda burn flared on the 5th day to severe facial hives / angioedema things settled down quite a bit.  She even did some better in school last week per her teachers report.  
    I contribute this to being back on all her meds with a few extra that her local Dr. started and then due to the restart of her steroid (which I do not like very much - but what do I do about this as she has shown she doesn't do well at all without it).  She's been on this for 9 months now.  I hope we can start gastrocrom and see if this makes a difference and maybe we can wean her off the steroid.  
    She doesn't go back to her local Dr. until next Monday. On Feb 21st she sees another new Dr. She is an Endocrenologist who saw Brie once when she was hospitalized for the Metabolic Acidosis.  This Dr. hasn't seen brie yet but received the "call for help letter" from Dr. Stelzle and already has an Adrenal stimulation test set up for Brie on Feb. 23rd.  
    I found out that Brie's hand and GI biopsies were never stained for Mast Cells.  Dr. Stelzle jumped all over that one and called these Dr.'s when we were in the office with him!  We have found out that the stains on the GI biopsies are negative for mast cells.  Still awaiting the ones on the hand biopsies - they had to be sent to another state.
    We sure are ruling a lot of things out - but have not confirmed anything for Mast Cells as of yet
    I am going to send you a private email regarding my correspondence with Dr. Castell's.
                                                           Hugs,  Kim

Deb Mc;
     Thank you for that input into the iron.  I will definetely be checking into this.  She had all of the symptoms prior to being put on iron - but it may be compounding her issues.  
                                                                            Kim