Hi Adele,

Welcome to our forum!  I'm sorry to hear about your little girl.  We have some other Moms here on our forum who are also running after diagnoses for their children.  Kim and Ruth both have children who seem to be systemic masto kids and it's these kids who really give their doctors a run for their money since they almost totally break the rule as far as masto kids are concerned - no spots!!   This is what makes them so hard to diagnose!!!

It sounds to me as though you've got some great doctor support going on for you there.  However, I'm very concerned about their talking Gleevac so early on in this.   The doctors really hesitate to do any kind of chemotherapy with masto patients because even though "technically" speaking you could in theory call masto an "benign cancer" when it's in the indolent stage, not even the masto experts will use these two words in association with the indolent stage of masto.  

So that I don't freak anybody else out, let me explain this.  If we look at tumors, both benign and malignant they do two things - they are clonal neoplasms that end up reproducing in a group and this reproduction ends up invading tissues - they end up crowding the healthy cells out.  Understand?  Well, this is indeed what happens with masto.  What happens is that there is a defect in the production of mast cells and some of them are clonal in their nature.  When a mast cell is activated it produced mediators which in turn will call other mast cells to come to that site where these mediators were released.  These clonal mast cells don't die off when they were supposed to, so they end up hanging around too long and they continue rearming themselves and continue to release their mediators.  So what happens is that you have a gathering of mast cells - an overload of them.  Well, those which are clonal end up glueing themselves together and this is what forms that so called "tumor" in that they form this ball of clonal cells.  But this process is SOOOOO SLOW that although technically speaking it looks and seems like it's a tumor, it's really such a mild and slow growth that it doesn't resemble a tumor at all.  It's very, very, very slow and takes YEARS for it to begin causing problems and by the time most adults are found with masto, they've in truth had it for at least 10 to 20 years - they were "hatching" the disease in truth.

Well, the situation is a bit different in children and most of those kids have the disease show itself in their skin while they are yet little.  I would suspect that whatever is involved in children to make their bodies grow at such high rates has a lot to do with how quickly the disease will show itself in them.  Their motabolism is on super high speed and so the reproduction of all of their cells is in it's highest gear and thus, this speads up the reproduction process in them that in adults takes years and years to finally show itself.  However, in children most of them have a limited form of the disease for many of them will magically be cured of the disease within their adolescent years.  The researchers still don't know why or how, but this is how it is.
Although this is how it is for the majority of the kids, there are exceptions.  Some children will carry their spots all through their childhood and on into adulthood, and others will go systemic.  Then there are those kids who don't have spots and are instead systemic.  I have to be honest with you, I don't know anything about these children for there doesn't seem to be any literature about them, for these kids are rare and break all the rules as far as the kids go.    Yet that's typical of masto for it's a disease which loves to break the rules!!!

As to the aggressive side of masto, yes, Adele, this does exist and there are some children's cases sited in the literature that do describe cases where the disease became or was found to be aggressive in the children.  

You see, Adele, masto is a funny disease is that for the vast majority of us, when the disease makes itself known it comes out slowly and over a long period and it takes time to find it's masto due to how slow the entire process is.  It's in the Indolent/benign form and although it causes difficulties, it's really nothing more than that of being tremendously allergic and it's really presents itself as an absolute pain in the neck kind of disease.  It's a tremendous inconvenience, but it generally does not present anything dangerous to our lives (if you consider anaphylaxis to not be dangerous, but this is another subject, so I'll leave it be for now).  

So what about this aggressive form?   Well, yes, the disease does indeed present an aggressive side to it, but this presents itself in the very opposite way that the indolent form does.  This form comes SCREAMING out of hiding!!  More often than not this form will show it's ugly face in the form of Leukemia or Lymphoma and then with testing they find the truth that it's a Mast Cell Leukemia or Mast Cell Lymphoma.   You see, being a blood disorder, it's very often associated with other blood cancers like Multiple Myeloma, Leukemia and Lymphoma and when it shows itself, it SCREAMS at the doctors due to how ferocious it is and how much it throws all of the CBCs totally OFF!!   There's no hiding this form of masto and doctors recognize it for how ugly it is!!!

It's with THIS FORM of masto that doctors will do chemo for these patients are dying and it's not a slow process.  They must act quickly and drastically in hopes to save the lives of these patients and this is when they will use Gleevac and some of the other Chemo meds.  

Now, about your daughter and her care, her case sounds similar to Brie's case in that she's got plenty of activity and difficulties and yet for her doctors to be talking with you about Gleevac already, this concerns me greatly!   Kim's had a great deal of work with Brie and her doctors but they've not once said Gleevac.  Kim's finally been able to get an appointment to see Dr. Castells in Boston, but I know Adele that this is difficult for you.  Unfortunately Adele, you have not one single Mastocytosis authority in Australia.  However, this doesn't mean you can't have access to excellent help.  

Adele, there are two people who I would recommend that you write to and I'll give you their emails for contacting them.  One is Nancy Gould.  Nancy is a masto patient and a lay researcher in masto.  She's an American but lived in New Zealand for at least 30 years and she knows doctors there and perhaps in Australia as well.  I believe that she can help you find help there in Australia.  However, like I said, your doctors seem to have a good handle on the disease, good enough to suspect it and test for it.   But to go thinking about Gleevac already, this is what concerns me for they may be jumping the gun.  I can't say how "aggressive" Bae's disease is not knowing how any of her test results are from your post.  They may be right, but I honestly feel that you need to call in one of the authorities to help you and your doctors.  You need to have another opinion and the doctor for this job is Dr. Luis Escribano from Spain.

Dr. Escribano is a hematologist/oncologist and he's an AUTHORITY in this disease.   If you had any way to take your daughter to him, this is what I would most strongly recommend for Dr. Escribano works with masto kids the world over.  I live in Brazil and I know of one child he has in his studies.  He has proven to be key in helping Kim get Brie to see Dr. Castells.  He's an incredibly gracious man and I think he has a real soft spot for the kids and I think that if you write to Dr. Escribano explaining exactly what you explained to us, that he will comprehend in a second what your daughter's situation is and will do what he can to help you and your doctors.  He will consult with them and help make sure that they don't anticipate anything or delay and he will also help YOU to maintain your calm as well as control over your daughter's care.

So, Adele, I'm going to send you a private note with the email of both Nancy's and Dr. Escribano's emails and if you will only write to them, explaining what you have here and ask them for your help, I have no doubts that they will do what they can to help you.

Don't worry, Adele, you came to the right place and I'm sure we can help you as we've helped one another here.

Lisa

Thank you so much for taking the time to respond Lisa and Kim.  I cannot tell you what a relief it is to read responses from people who actually have some knowledge of masto.  

I'll definitely go and read Brieann's story now.  I have not spoken to anyone since all this started who even knew of kids with possible masto without skin lesions.  

Lisa I look forward to receiving your PM.  Our haematologist/oncologist is planning on consulting with someone is Spain so I will definitely be in contact with Dr Escribano and find out from our doctor if that was who she is going to consult with.  

Thank you again

A

Hi Adele, I don't have anything to offer at the medical level, being very new to this and still figuring out if my son's health problems are related to a  mast cell activation disorder, but just waned to say hi and add my welcome and encouragement to everyone else's.  Your daughter is so fortunate to have a mother who is getting onto this for her in such an informed and proactive way, and to have doctors who seem switched on and working hard for you.  There is a note about doctors in Australia in another thread, it sounds like you don't need new doctors but it may give them another specialist they can consult with if they need to.  This forum is priceless for the information, clarification, support, advice and encouragement, not in place of but in addition to what you get from your medical team.  I know what it is like to watch your child in pain and not know what to do for them,  I do hope you come up with some answers and more effective treatments soon,

Ruth

Hi Adele!
I just wanted to welcome you and your daughter to the board and tell you their are are some brilliant minds here that will help answer your questions and the VERY BEST of hearts full of compassion waiting to give you all the support you need  You arent alone anymore!
Hugs
Ramona

Hi Adele,

Just a couple of things to add.  If she were to be found to have agressive mast cell disease and the C-Kit mutation, I don't believe Gleevec is indicated, and there are other better options, including a new drug called Midostaurin (PKC412).  That said, I have had SM for many years, and probably had it in childhood, too, but have never had spots.  Lack of spots doesn't necessarily mean aggressive disease.  I had terrible GI symptoms as a child, as well as itching inside my lungs, itching without rash on my skin, sensitivity to all sorts of things, etc.  I now think many things I ate cause my problems to flare.

Still, I agree with the others that what can appear to be aggressive, may only be uncontrolled indolent masto that is not being treated with enough antihistamines.  I found that when I got on the correct meds and the low histamine diet that my pain miraculously diminished tremendously.  It's amazing to me how sick one can be and still have indolent masto.

I would definitely do a trial elimination diet with her, using the low histamine diet:

www.urticaria.thunderworksinc.com/pages/lowhistamine.htm

If she can stay on it religiously, you might see a big change quite quickly.  If she seems happy on the low histamine diet, I probably would leave her on it for the longterm.  If not and if she were my child, I'd do a trial adding one "new" food no more often than once per week.  It can take that long to get something out of the system.  

Have you tried cool packs for the pain?  I find that while warm feels better at the moment, cool gives longer term relief.  Warm baths do seem to relax the muscles though.  Some people, if they can tolerate it, do well on aspirin, but it triggers other people, too.

Hope you can get some answers you can trust really soon!  

Adele,

I can only imagine how hard what you're going through is.  Still, you are doing everything right by contacting these new medical experts.  Sadly, feeling helpless and unsure is part of the process until you get answers.  

I have reservations about exposing her to more radiation or invasive tests (BMB) until a mast cell disorder specialist has reviewed her previous BMB.  She sounds somewhat stable as far as her bloodwork, and that is good.

I wonder if she had a rest in the mid-late morning at school or came home for an extended rest and lunch mid-day, if she'd have a better afternoon.  Also, sitting is notorious for exacerbating pain.  You might want to consider asking for her to be able to get up and walk around and do some gentle stretches through the day.  

Hope you can maintain faith that you are on the right road and things will be clear soon!  I really hope the diet makes a difference!

Hi Adele,

I'm so glad that both Nancy and Dr. Escribano replied!!  THEY ARE THE BEST!!    

As to the monoclonal cells - Mastocytosis is a monoclonal disease, Adele - this is masto.  If the mast cells were seen to be monoclonal and not some other cell, then you're talking about mastocytosis, dear.   Were they in aggregated form, or was their shape changed?  Either can happen with masto.  But since you're sending those biopsies to Dr. Escribano, then you can RELAX 100% because the man is tremendous!!!  He is one of our major researchers and he knows what's what!!   He's also working with me right now and I'm waiting upon him to do another bone marrow biopsy, so don't worry, Dear, he'll help you find the answers!!

I have a suggestion for your doctor.  I would recommend that you send to her Nancy's email.  Nancy is a retired head nurse and has a master's in that area, I believe.  Nancy has systemic mastocytosis and she also is a well respected lay researcher!!!  She has a lot of raport with the researchers and they've got regard for her opinion.  She's been helping masto patients for a good 15 to 20 years.  She has helped me.    I think that if you sent to your doctor Nancy's suggestions and comments, then she can run this past Dr. Escribano.  Also, as to your daughter slowing down at about 1pm - Adele, this only makes total sense.

Although you don't have masto, haven't you noticed that after a full morning after you stop for lunch that all of a sudden your feet begin to drag.  Well, you can't feel how drained you get when your mast cells and other cells are being drawn upon, but we masto patients can and do.  Yet, if you, being healthy and normal end up slowing down after you eat, then you understand how the body is redirecting its energies to the digestive process.  So, this drain is normal and part of the body's function.  However, what is not normal is how very exhausted and run down your girl will feel.  This extra drain is due to the need to add more histamines into her regime.  

Some patients are shockers.  I am, and I'll go from being perfectly fine one moment and flat out the next.  It hit like lightening!  Others are leakers, and they have these continual symptoms.  However, neither group escapes the need for the continual antihistamines.  And what happens is that there are days when we are more active and it therefore puts a larger demand on our system to counteract it, or perhaps her levels are just not high enough, like Nancy said, and she's not got enough "coverage".

You see, Adele, what you can't feel is the effects of the mediator release.  When we take the antihistamines, this blocks the histamine reaching whereever it reaches and creating the reactions it causes.  But when our levels aren't high enough or we've ended up releasing more than the usual amount, this means that the bucket has overflowed and is causing a mess - reactions.  The sudden loss of energy, the malaise, the pains, the itchiness, the obvious brain fog  (those slow thoughts and cognitive difficulty is brain fog).  All of this are signs that she's in need of more meds, or that her meds be more spaced out.

My masto specialist had me make a switch with my hours for she noticed (because I write her  updates of when I have major activity and she's been able to analyze them and see a pattern - smart woman!) that most of my attacks come towards the late afternoon.  Well, I knew that, but I didn't understand the implications of it.  so, she moved up my 6pm dose of allegra and put it to about 2:30, which was right about that time I would begin to drag and show warning signs.  I didn't realize this.  So then this has helped to cut back on some of the activity and she replaced that 6pm dose with a different antihistamine to go along with my other meds.  It's made a real improvement and I don't feel that I drag so much.  

I would suggest that your doctor introduce another H1, or H2 at her lunchtime at school.  This will allow her to be a more normal kid in that I'll bet you anything that her recess activities were also robbing her due to the physical aspects and then come 1pm she's overreached her levels of antihistamine, they're no longer blocking it all, and she's feeling the effects!   By adding that mid-day dose, she may be a whole different child and won't need to miss school!!

Also, another thing:  KETOTIFEN.  Is your girl on this?  This, I believe, is available in Australia and it's a mast cell stabilizer.  It will do what Gastrocrom will in stabilizing the MCs and is an antihistamine.  However, Gastrocrom addresses more in dealing with the many gastric issues and it's a really good medication.  But it can be cost prohibitive.  I can't afford it Adele for it's outrageously expensive due to the need to import it!!

Just one more thing -

Adele, the authorities to masto openly tell us patients that there is absolutely NO RELATIONSHIP as to the amount of activity versus the severity of the disease!!   It is very well documented where there are cases of aggressive or smouldering disease but the patients never had the slightest idea until they reacted to something or even an autopsy was performed!   It is very well known that not everybody even has the slightest idea that they have masto and they go for YEARS AND YEARS with those spots and some funny reactions and then somebody notices.  Dr. Escribano will cite to you case after case of systemic masto where the first indication of disease was anaphylaxis after a bee sting!!  

And yet they will also tell of you of patient after patient who goes through all kinds of torture and yet they can't find any sign of the disease through the testing!!  They end up having to judge it through the process of elimination and by the symptoms because they can't find evidence enough to support the disease.  

So, although your daughter is still having symptoms, this does not in ANY WAY make her case to be either aggressive or even in risk of it.  Your doctor doesn't know enough about masto!  My dermatologist will tell you that what they judge the severity of the disease upon is that of the CBCs and the tryptase level.  The tryptase level indicates the amount of mast cell burden.  The higher the levels, the greater amount of mast cells within the bone marrow.  There are few exceptions to this.  Your doctor need to keep an eye upon liver function, kidney function and pancreatic and spleen function and the sizes of these organs.  However, if her CBCs are now showing any kind of anemia and all seems to be within the normal ranges or even borderline ranges, then please, sit back, give a huge, THANK GOD and a BIG SIGH and RELAX!!!

I hope this brings you some comfort!!!

Lisa