Hang in there Kim, one day at a time, and now it's April hopefully June doesn't seem quite so far off. I am really glad you have this place to debrief and vent your feelings and experiences, and get the support that helps so much.  Praying for you both as Brie regains ground on her symptoms and for patience and good health for you all.

Ruth

Hi Kim ,

I understand ;( What a horrid time you and the family are having . mastocytosis is a genetic disease . It is due to a mutation on codon 816 at the ckit point . It can also show cell markers . So to this degree you may well be right .

I can see exactly where your concerns come from . I just wanted to fill in some bits for you . I know you probably know all this . But I just want to reassure you on some points .

I know there will always be the exception . But AML shows in bloods . Because it affects production of various blood components as they originate in the marrow . I have nursed all forms of leukemias . I have a friend attending our oncology centre here for the very same this week

Myeloid luekemias show in blood . They can also be tested for with urine and blood eletropharesis . I have been tested for myloma . This was felt to be very likely at one point in me . I had MRI back and spine and the bloods and urine tests - clear . The blood and urine tests have been repeated a couple of times since to be sure .

Antihistmines will not help leukemias or mylomas . So the fact these help Brie is a strong pointer towards mast cell .

Steriods can help mylomas , but only in large doses . Brie is only on low doses so it is unlikely to have been masked . There are some crossovers in the neoplastic mastocytosis and leukemias . If your docs had any clue this was the case your feet would not be touching the ground with the speed you will be appointed to the correct teams .

I want to give you a huge hug and make June come tomorrow .

Josie

Hi Kim

I completely understand I knew you weren't looking for stuff that is not showing I sometimes find it helpful to review things

I also understand your genetic concerns . What i would say is that for now , I know how hard this is . i have children and am anxious that they may become ill , so I understand .

For now , you could see masto / mast cell for what we do know now , as the future (fortunately or unfortunately ) is not our for us to see .

So , what we do know is that mast cell disease falls into 2 camps :-

clonal and non- clonal .

Clonal is extra mast cells , mishapen in clumps . This is mastocytosis . This gives a positive tryptas. These misbehave and burst in response to triggers .

Non clonal - is a normal mast cell population , misbehaving , bursting ( degranulating ) due to triggers

The exception is mmas -monoclonal mast cell activation. Where you ahve mast cells in clumps but they are clumps too small to be considered mastocytosis .

The ckit mutation is on codon 816 . This is the genetic element , It is a minor criteria for diagnosis of masto . the full details are on the TMS website underconsensus document . I am sure deb has done an article here

In general terms you have to have one major and one minor criteria or 3 minor to has mastocytosis .

Without these criteria you have mast cell activation syndrome .

The research has found some patients who do not fit the criteria for masto that ahve a ckit mutation . But as you said , research has not found a link in all patients for a genetic origin.

So , does it really matter ???
The way it is important is in being able to watch patients . But once brie is with a mast cell specalist they her hers for ever . I know this is based on her being diagnosed with a mast cell disease

BUT , the medications are the same and ............... THEY WORK you will not be sent away with no where to go

I can't tell you Brie will get better , BUT , we do know she is going to see the best I feel this before any appointment , especially with top doctors as even now , with a diagnosis , I need them . There are very few times and places in my life where I truly need someone . I love my partner and kids , I feel I need them to be ok . But in really it is not a raw need like this . I have seen that this is why I have and ( although I try not to ) feel this about appointments

Just for a second say its not mast cell , very unlikely , the docs will find a new direction and point you that way

As for , will Brie progress to a more serious form of mastocytosis . thats a we can't tell the future one . I ahve had many concerns like this for myself . I had to apply my poem .
Have the courgae to change the things you can , senerity to accept the things you can't and the wisdom to know the difference This was a senerity one for me .
You ahve pushed and will still do to get the right answers for your little girl , but for now ( maybe ever , but I work it sections of time ) take her illness away . You can however learn yourself and with her to manage it so she is as well as she is going to be You are doing that . now you are close to the specialists .

They will help you manage bries illness , but , it is likely they won't cure it .

So , thats abit depressing . No , its not . Its a way you working with a good team , amazing team of doctors can work to give brie the best , most functional life .

Finding any genetic problems will arm you with information to help you

I had to grieve for what i felt I should be , should have been doing , the roles I have had to move on from . I know I had to do this to beable to go forward . i am very positive , but I have had to accept this is here . That i am not going to nurse again , possibly not drive etc. I settled into medium term . i couldn't cope with saying forever and who says what will be .

BUT , I have hope in my back pocket . It helps me see a future . At the moment I imagine you can't visulaise brie's future or what you do visulaise is hard . thats ok . You see , you are not just sitting there waiting for the light at the end of the tunnel to come on , you are stomping up there and turning the bugger on yourself Thats why Brie is lucky to have you as her mummy

You have put brie you and the wider family where fate can see you , now the good stuff can happen

I wanted to share a little with you I am not saying you are feeling this .

I hope this helps

Josie

You are in my thoughts and prayers Kim, you and your extended family are dealing with some heavy issues. I hope Brie is getting  past  the side effects of the tests. Take care of yourself,

Ruth

Gee, Kim, now that's a HARD question!  I think the hardest I've come up against!!!     Anybody else able to tackle this one???!!!


Kim, I'm not sure how much I understand it, but I'll try my hand.  

As we know, the clumping of the mast cells occurs within sytemic masto (WM).  This is because these MCs which aggregate in this manner have a defect and are clonal - they reproduce themselves.  This is neoplastic and aberrant.  The MCs are supposed to be reproduced in a normal manner which is that within the bone marrow, spleen, liver and pancreas, this is the place that blood cells are born, but as they mature, something happens to cause the cells to differentiate - or become changes into the different individual cells that the body is needing.  Or at least I believe that this is the process.  The cells are not meant to reproduce themselves, but they are produced and then as they mature they form into the needed cell.  But it's this cloning process which is wrong and is cancer-like in it's behavior.  

So, not only can there by something wrong with the forming of the mast cells, but there can be other white blood cells which are also aberrant and are cloning themselves along with the mast cell and this is what makes it so that there are other blood disorders that coincide with the mastocytosis.  

I believe, Kim, that it's that there is an underlying genetic disorder with the blood producing and maturation process in and of itself.  Yet, there is so much about it that I, myself have never studied and don't understand either.   For example, I do know that along with mastocytosis you can have lymphocytosis, which is what I have.  This is a common finding in the clonal masto patients.  There are molecules which create adhesion and this is what causes the aberrant MCs to stick together.  This is seen in other diseases in that the cells which are defective end up sticking together.  It's due to these adhesion molecules.  Well, in mastocytosis, for some odd reason, these adhesion molecules will not only cause the unhealthy MCs to clump but will also cause the normal and healthy lymphocytes to clump together as well and this is what has happened with me.   This is called lymphocytosis.  These lymphocytes are totally normal and healthy, but they are clumped.  Yet, what also happens in masto is that you will have not only aberrant mast cells clumped together, but you will also have aberrant and unhealthy lymphocytes which have also clumped together and this is where you have lymphoma coinciding with masto.  

Now, as much as you can have lymphocytosis (normal lymphocytes) coinciding with mastocytosis you can also have leucocytosis (normal leucocytes) also coinciding with masto.  But the danger is when those lymphocytes or leucocytes are aberrant and clonal that the real danger lies.  Then you have TWO unhealthy cells together and this is when the disease gets dangerous because if it's only the unhealthy mast cell, it's such a slow growing process that although it's the same kind of unhealthy process, it's not considered aggressive due to how very slow the process is.  It's all unhealthy, but it's like the difference between ovarian cancer and prostate cancer.  Ovarian cancer is consider 100 times more dangerous due to how very fast those aberrant neoplastic cells reproduce themselves and invade tissues.  Whereas prostate cancer is very slow growing and thus is often easier to cure or treat due to how slow it is.   SLOW IS GOOD!  

But the processes of the reproduction of the other white blood cells is faster and this is where the danger lies for you've got two separate cells to have to deal with!!  And since the mast cell seems harder to deal with and is so reactive, it complicates the entire treatment process.  But the real threat is that of the other white cells.  Lymphoma and Leukemia are deadly due to how very fast they grow and invade tissues and you've got to be very aggressive in treating those diseases.  This is why the literature will instruct the doctors to treat as according to the other coinciding disease be it lymphoma or leukemia.  

Now, knowing this, I would not be surprised that when you have the situation of lymphoma and mastocytosis coinciding or when it is leukemia and mastocytosis coinciding, that the problem is in the formation and cloning of these unhealthy and aberrant cells.  Is there something behind them both which causes this to happen at all?  I don't know and this is where my understanding shows it's lack.  

Jilly is really who should be explaining this because she's an immunologist and I'm in over my head!!!  I've probably made a total ruin of this, Kim, but I thought I'd try my hand for you.

Jill!  How about a bit of help here!


Now, as to your niece's child, Kim, I don't think you have any reason to think that she's got mastocytosis on top of this, for although the mast cells may be involved, it doesn't mean that they are the problem here.  As to Brie's situation, Kim, for right now you have no reason to fear that she's going to develop leukemia!   There does exist this non-clonal form of mastocytosis, or at least researchers, at the moment can't find any evidence that supports that the non-clonal MCAD patients have any defects upon their MCs which is forcing them to clone themselves and become aberrant.  What seems to be wrong is that these mast cell disorder patients have a defect which makes the NORMAL, HEALTHY MC be TOO REACTIVE!!   It's like a child who is hyperactive, he can't sit still and any little thing can and will distract him and get him running around.  

So, this being so, these patients, since there is no clonal properties involved, don't have the same issues in that the cells are healthy, they just are waaaaay too sensitive.  Therefore leukemia and lymphoma are not a possibility nor is leucocytosis or lymphocytosis, for there is no defect with the blood making processes.  

Understand?     But again, I'm totally feeling insecure about this, Kim, for I'm out of my range of studies.  

So, JILLLLLLLLLYYYYYY!    Please give us a lesson in immunology !!!!!!


I can only hope I've not made a mess of this Kim and am looking forward to somebody else answering this question so that I can learn too!

Hugs!

Lisa & Jill;
   
    Thanks for helping me try to make some sense with all of this.  It is so very complicated and mind boggling... but I felt I needed some further information in this area.  As I said I in no way feel Brie has cancer.... but needed to make sure that I am not leaving any stone unturned as to if and how the Myeloproliferation Disorder could be related to MCAD / Mastocytosis so that if it was I wouldn't let my guard down if it came to future problems / symptoms in Brie that may need further investigation.  I appreciate you all so greatly!

                                                           Thank You,  Kim

Hi Kim,
          I don't know whether you have read my son's story. Jarrod  gets a cough every year although the last 3 years it has improved. It now lasts for about 3 weeks. Before that it lasted for months. He gets it about May in his bad period. It seems to be a very dry cough that doesnt respond to anything. In the past before we were investigating masto, it has been diagnosed as sinus, virus, post virus, asthma. He would cough all the time every few seconds. He throat clears constantly too (that hasnt improved). The interesting thing is that the only peace any of us would get was when he was asleep. Sometimes he coughs that much he cant draw breath, or talk. I would describe it as a very dry cough, its got some noise to it , some describe it as a honking sort of noise, some describe it as an old mans cough. He gets very exhausted from it. It can come on with an  attack or without.

Jarrod has had a couple of things show up on bloods when his in an attack, but they do resolve. They are:High platelets.
                                                      High basophils
                                                       High liver enzymes ( ALT, AST)

I know its such a long road to get a diagnosis, we are still trying to find doctors to see Jarrod.It is so depressing. Everyone comments that they just cant understand why they just dont get it.It fits in with systemic or MCAD.I am so terribly frustrated and angry over the way we have been treated in the past.

Anyway sorry for my rant

I glad youre daughter seems to be improving.We have found something that works for Jarrod too. He still has attacks  and still lives with symptoms every day, but the attacks are more spaced out.

Take care
Judy.

It seems like forever since I have been on this forum.  I have not forgotten any of you and hope all is going well.  I have thought of all of you often and wondered how you are all doing.  I will have to do some serious reading to play catch-up!

When I haven't been at work I have been dealing with some serious family issues or been out of town.  We have had 3 family members dealing with life and death issues for over 2 months now.

I just wanted to let you all know that Brie and I are still pursuing her journey.  She had been very stable for about 2 months - thanks to the addition of Gastrocrom to her medication regime.  Even she identifies this and asked to send a "thank you" to the Dr. her put her on the medication  

Just in the last few days she has developed some new symptoms... not sure how or if they are related....  She now has 2 lumps on the back left lower side of her head.  They initially thought it was a bone tumor but an x-ray ruled this out.  She has seen 2 doctors for it and they are both baffled.  Neither one has biopsied these areas and I don't think they will... although it was mentioned by one of them.  One now thinks it is lymph nodes being inflamed and the other now thinks they are calcified cysts.

She also has 8 strange skin growths on her scalp.  They are up higher than the 2 lumps on the head and they protrude from the scalp and look like "fatty tissue" ... for lack of a better description coming to me. Neither Dr knows what this may be either but the Dermatologist feels it is a virus and she "froze' these today and we will wait to see what happens to these skin growths and the lumps on her head.

Thank God we are now only 3 weeks away from seeing Dr. Castell's in Boston!  Hopefully she will be able to tie everything together for us and help us get on track with all of this and with pursuing Brie's adrenal gland issue and lack of cortisone.... along with her extensive symptomology.

Well, although things still have not calmed down on this end and probably won't for awhile I just wanted to stop in and say high to all of you and update you on Brie and the reasons I have been away from the forum.  It's not that I don't want to be here as this forum has been my life preserver for many months now!!!!

                                                          Take Care,  Kim