Reply from kgruba

I am exhausted!  I know this site is full of encouragement, information  and support and I am so thankful for that... but what do you do when you feel "beat down"?  I have spent the last two weeks spending every minute I have trying to find answers for my daughter ... not even including the countless hours of research I have spent in the last 3 years.  It wasn't until May of this year that I came across MCAD and it fits so perfectly with my daughters symptoms (although she does not have any "diagnostic markers" so far).    The problem is most pediatric patients have only cutaneous mastocytosis / MCAD.  I don't believe this to be the case with Brieann.  She has so many systemic signs of this disease... either that or she has something other than MCAD and it just resembles this diesease. Some of the other diagnosis mentioned so far do not fit her symptomalogy.  I don't know what way to turn anymore.  I have emails out to Dr. Akin and NIH with no response fron either of them.  I have contacted a local Allergist / Immunoligist that I know and trust and this is "to complicated for him and he refers his patients to Dr Butterfield at Mayo."  Input I have had from many people is that Dr. Butterfield is porbably not the "best choice" for my daughter.  I have not tried to contact Dr. Schwartz as he is not covered by my Insurance.  I am so sorry for this "less than positive post"... but I am at a loss as to what to do for her.  It seems that no one out there (meaning Dr.'s) want to help with the diagnostic part of her symptoms and until we get a unifying diagnosis they don't want to get involved and I feel so helpless... as I don't know where to go to get this.  I know one person on this site has seen almost 300 Dr.'s!  I am not sure I can do this.... we need some answers "yesterday".  I am actually contemplating taking her off of ALL of her medications so maybe there will be a severe enough reaction to "shake someone up"... but I know this will only hurt her and may result in some severe consequence and I do not want this by any means.  I am looking for any input that any of you may have for me at this point.

                                                                                                             Kim

Reply from kgruba
Ramona;
  Thank you for your encouragement and support.  I know you are all here to help Brie and I through this and I am soooo appreciative of this!  It feels so good to be able to talk to people with sympotms like hers these last couple of weeks.  This is the 1st time I have been able to do this in the 3 years that we have known that "something" is wrong.  My Mom actually asked me last week if I was depressed.  I truly don't feel depressed... just frustrated and overwhelmed trying to get a Dr. to at least take a look at Brie and the possibility of MCAD.  I admit that this has "consumed me" and my every waking moment (which often involves the night time hours that I wake up with this on my mind).  I need to break away from this and take your advice and continue to spend this precious time with the kids and not let it absorb me the way it has these last couple of months.
I am just struggling in finding a way to do this.  My personality is such that I will push forward at all costs until I get answers... once I have those answers I can then sit back and take a big sigh and deal with it and move on with life.  I will write more later... got to go for now as she is getting one of her bad headaches at the moment.
                                                                                               Kim

Reply from riverwn2

This might be a part of the urticaria. I say that because I used to have a TERRIBLE time with itching on my scalp. It continued for years---but I made it worse by scratching at it.. and I noticed that when I scratched too hard a serous fluid would seep through onto my scalp and make small scabs. Those in return would itch til I scratched them. I had to make a huge effort not to itch them and do things like rub conditioner or oil on my hair (replaced a bad habit with a good one lol). That finally made it heal and go away. I hope the weekend and Holidays find you all healthy and happy,
Hugs,
Ramona

Reply from kgruba

Do elevated WBC's and Platelets relate to MCAD?  One other thing I have found now that I have accumulated ALL of Brieann's medical records is that since birth she has had numerous times in which her WBC's are elevated (11,000 - 16,000) and many times where her platelets are also elevated.  And yet there is no indication of infection in the rest of her labs.  She will at times have WBC's in her urine too. Would appreciate any input anyone has regarding this.

                                                                                     Thank you,  Kim

Reply from lisathuler


As to the flu shot, Kim, I think you really need to find more answers before attempting another shot for Brie.   If that is what she did last year, she could have reacted to not only the egg but to the substances that immunize her from the flu.   And, if she's in a deblitated state, you don't want to provoke her system more.

We masto patients can react to a number of things and we've had discussions here of to immunize or not to immunize and the only conclusions we can say to one another is that you know your own body and therefore know what triggers you most and being adults we have the freedom to consider what our risks and chances are and thus base our decisions upon these things.  

The fact is, and the argument is, that the advice from Drs Castells and Akins is that we patients should indeed immunize because if we were not to be protected from the flu, or whatever other disease is out there for the taking and then we end up getting it, it would be harder on our bodies than to get an immunization and have to go through a smaller, more controlled reaction.  The reasoning behind this is very sound in that any kind of illness can and will trigger the mast cells for they are automatically called into action when we get sick with a bacteria or virus.   It will wreck less havoc upon our systems to have to deal with any kind of reacting to a vaccination versus that of getting that illness.  

Yet, the thing is this - we adults have built up our own immunity to bugs and flus and the such since the majority of us went through our childhoods as healthy kids.  This is why some of us feel that we can indeed handle the risk of not taking these flu shots.  I didn't, but not because I was afraid of reacting to the ingredients - I eat eggs without a problem and I don't think I'd get a big reaction to the vaccine itself.  I didn't get the shot due to the fact that I was preparing for major surgery and the very last thing I wanted to do was to get my immune system all stirred up in the months and weeks prior to surgery.  I was working to try to get it to settle down instead!   Yet when our Fall comes back around I will be getting the shot for in this sense what Dr. Castells says is very true, it's far better to trigger a reaction to the shot itself and even go through any reacting that the vaccination might cause in giving me a mini-flu, than it would be to get the actual flu.   I've had a chance to see what fever can do to me and it's not pretty.  I've felt my body actually get stirred up when I was running a fever due to infection and it's something to feel the interior changes going on inside of me just because my temperature was raised.

You see, due to certain mediator release, the disease will produce it's own fever situation.  If I get too overly taxed physically speaking I will run a low-grade fever.  This is due to the prostaglandins being released.  But this is not the same as a fever from an infection for that's a different ballgame.  A fever from an infection called the mast cells into action and this increases the mediator release - the prostaglandins causing the fever are being yanked into action.

Not just for you, but for others as well, let me explain - this is what my doctor explained to me.

When we have mediator release on a normal basis, like what you have, it's usually due to the mast cells being called into action.  This is the normal process and your body will only call into action what it needs.  Yet the calling of those mediators into action will end up affecting the other mast cells, but because yours are normal, you body won't release more mediators than it needs.  It's self-regulating.  But you've seen the affects of it even though you don't realize it.  For example, if you were crossing the street and you almost got hit by a bus you'd be shaking like a leaf afterwards.  Well, that's due to the mediator release of epinephrine from your sistem which made a mess and has got you literally all shook up.  Yet it doesn't take much for your body to clean up the mess and metabolize all that spilled adrenaline and other mediators.  But for the masto patient, when the epinephrine is release, like it was with you, it's been yanked out of our systems, like it was with you, only when this epinephrine was yanked out so were other mediators from the mast cells, just as it was with you, only you didn't quite feel it.  Yet the problem is that all of this mediator release triggers more mediator release either due to the fact that we have way too many mast cells or that they have a hair-line trigger and are triggered way too easily.  So, what for you just produced mere shakiness, for us puts us into anaphylaxis!   You can ride out the wave and it's a normal surfable sized wave, but for us, it's a tsunami of huge proportions and there's no surfing that!

This is what happens with any kind of infection be it bacterial or viral, be it from our own bodies causing an infection or that of an outside invader.  no matter what we do, we get into trouble and this is why some of us figure that we prefer to take the risk.  

But this is not the situation for Brie.  She's still building up her immune system and she's got to somehow do this without it taking too much of a toll on her body.  This is why I would suggest, if Brie seems more debilitated than last year that you hold off a tad on giving her the flu shot so that you can get her into the hands of someone who really knows the disease and can tell you whether or not, in her case, that this is worth confronting or not.   Her reaction to last year's vaccination, and no I don't think it's a coincidence, is what would make me think twice about repeating that if I didn't have a doctor who really understood what her case was.   Granted, I know she has to go to school and that she can pick up all kinds of stuff there, but to put her through this again without having a doctor knowing that she could possibly react and then understanding how to help her out, this is what makes me hesitant.   Does she need it?  Yes,   Again it's better her reacting to that versus what getting the illness would put her through.  However, does it have to be supervised?  YOU BET!   And this is why I suggest you hold it off a tad.  Perhaps you should speak with her doctor at the Mayo and ask his opinion as to this, then combine with the local doctor you're working with to hospitalize her over the Holidays in order to give her the vaccination.  It may be guilding the lilly and they may say, What!  Hospitalize a child to give them a vaccination?!   But if that's what it takes to keep her safe, then YES!    

Kim, this disease causes some horrendous reactions in some us and depending upon the person and the situation, extra precautions must be taken.   The last time I did a colonoscope my doctors were scratching their heads as to what to do and how to do it!   It's a no brainer for the average person - take the meds at home, and come in with your intestines already cleaned out, do the exam and go back home.  It can be done in a clinic for them - no hospital setting and it's a done deal.   Not so with me!  I've reacted to the process of cleaning out my intestines!  I've not reacted to the meds themselves, but their doing their job!   I've had to take the laxatives before and we never know how I'll react to when they take effect.  Once it put me into anaphylaxis!   Then the time they hospitalized me to do the colonoscope my doctor came in to check on me and there I was with this tremendous rash on my face and chest due again to the fact that the stress in forcing my intestines to function causes me to react.  They really don't know how to handle this and they've seen that in messing with my intestines and the mast cells there, that they get me right on the edge of anaphylaxis, even with the prep medications!   When they saw my reactions they had no doubts that they'd done the right thing in hospitalizing me!  My doctor's don't question any more as to how to deal with me!  They already know, HOSPITALIZATION!     The fortunate thing for any other masto patient who may come their way is that they'll probably overprotect that one since they probably think that all masto patients are as volatile as I am! haha!

So, talk with your doctors about this Kim, combine with them as to what is best for Brie and if they say yes, vaccinate, then you DEMAND that they hospitalize her for those days following until they can make sure she's out of danger.   It's the only sane thing to do for her!


To change the subject....any further news from the NIH by chance?

Hugs!


Lisa

Give Brie a big hug from me!!  

Reply from lisathuler


Hi Kim!

As to the thanksgiving card, it's not arrived yet - but I've not lost hope!  There are times things seem to get sent off to Belize, believe it or not!   I had a card that took about 2 months to reach me for this very reason!  It was stamped on it NOT BELIZE!   All I can figure is that the guy in Maimi ( or wherever)  was a bit tipsy and when he flung the card he flung it into the wrong box and said, Well it's a B country anyway!  hahahahaha!   We're also waiting on a box coming in from the States and gracious knows when that will reach us!   So, don't tell her yet that it's not reached me, please!    Let's keep waiting a bit.


I'm sorry to hear that she keeps getting sicker!   I oh so hope and pray that Dr. Carter's intervention there will help open up the doors for Brie there!   I'm really hoping that having Dr. Metcalfe's interest here will help open that door that the one doctor thought was impossible to open!   It's one thing for us adults to go through this torture, it's a whole different ballgame for them babies!  

I'm REALLY REALLY HAPPY to hear about the allergist!  This is really GOOD news!   You've got to have someone from home taking care of her and this is good!    Kim, ANY KIND OF INFORMATION YOU NEED, IF I'VE GOT IT, IT'S YOURS!     I KNOW that the others will gladly do the same!    We can swamp this doctor of yours with more information on masto than he ever knew existed!   You just get his email address and let us know and we'll swamp you with all the LITERATURE that doctor needs for the remainder of his days!!!!    If he's open to accepting our help, I'm certainly willing to send to you whatever I can to help teach him!   So, let us know!


As to this doctor and the NIH, the more I think about it the happier I am that if you can get her into the undiagnosed study this is great because there may be more going on with her than anybody has ever guessed!   To get to the bottom of whatever is bugging Brie, it's good for them to look at her with fresh eyes!

I'll be anxiously waiting to hear how it all goes!   But how is she manageing these days, Kim?   Is she back to school and doing okay, or is she struggling to get through classes?   Have you considered by chance doing some home schooling with her?   There are some excellent curriculum out there for schooling children and since she's so young, this may be an attractive thing to do.  Granted, you do work, but what about a family member?   Alpha Omega is a wonderful school curriculum in which the child is pretty much their own teacher and the parent or teacher only steps in at the time the child needs that extra help.  Perhaps Brie would be better off in an atmosphere were she didn't have to try to keep up with the other kids and could go at her own pace when she's feeling well and then when she's not, she's not pressed too hard.   I went to a gradeschool that used this curriculum and they used it for us kids who had fallen behind in our schools.  My mother saw that when she took my 3 brothers and I from public school and put us into a Catholic school that all three of us feel totally behind due to the changes in the methods of teaching.  At the public school there were no requirements to study, do homework, or anything!  When I got into the Catholic school in 5th grade I'd never even heard of the word Essay before and was totally lost as to what one was or even how to write it!   Needless to say not a single one of us lasted 2 years in that school and we each were threatened with failing our 2nd years there!  The school I was put into was a specialized school in kids who were struggling and I was able to catch up the 2 I'd almost failed and get back into my own grade as well as prepare the the year ahead in only 2 years of schooling!   I am one of those who does better at teaching myself and going at my own pace than that of having to keep up with the class!   The teacher's voice of YADA YADA YADA drones on with me and I lose interest easily  - this is why I'd get lost cause I'd go off into Lala Land with my imagination!   Yep!  Another Calvin!

Anyway, a kid like Brie, who isn't feeling well to begin with finds that keeping their attention to the Yada Yada is more punishment than the illness itself!  And if she's not feeling well, then it's pure torture to be in class.  If she's not doing well, Kim, don't grieve at her being out of school so much.  I'm a school principal and I work with kids and their difficulties with learning and this is something I would suggest to any one of the parents in my school who was faced with just such a situation.  There are some kids who are BETTER off not in the school room and even in the school itself.  Education should not be intended to force the child into the mold, but to fit itself around the child's needs.  So much in life teaches us and we learn as we go along.  Once a child has been taught to read and write, or as they say in Portuguese - alphabetized - they take these skills and grow with them.  I was not taught Portuguese, I learned it by listening.  Yet when I got into university here in Brazil I'd been speaking the language for a few years but I was totally illiterate!  I managed to read but one book in Portuguese before I had to take my entrance exams and yet, even though my Portuguese was so pathetic, I managed to pass in the upper 10% of those who were doing the entrance exams!  All through college I kept struggling, taking dictation even from my professors, but I kept pushing along and each year my notebooks showed a gradual improvement in my ability to write the language!  I had to take a Portuguese class right along with my classmates and yet somehow, by God's grace, I passed for my professor sure didn't want me to!  He was indignant to the fact that the illiterate Americana was able to pass in his class when he had others who had to cheat and still couldn't get by!  He called me a warrier in front of the next years class due to how hard I fought my battles!   But this was an incredible lesson for me as an adult and as an educator and it taught me that once you've got those skills of reading and writing, the rest is a piece of cake for you must use those skills to build all of your knowledge upon and the older the child gets, the more it all falls into place.  

I'm not saying that Brie can just skip school and then pick up easily where she left off, it's not like that, but as long as you can help her to become a fluent reader this is the key to it all.  A child can indeed have their first years of school totally wasted due to illness or travel or whatnot and it won't destroy their education!  Although the first years of school are where the foundation is laid, it's the last few years that the student is formed!   Those are the years which are more important for her future, not those first few.  Those first few are all years of alphabetization - or in other words, that of forming her understanding of the tools of reading and reasoning, but the information that the children are taught is not as essencial beyond that of learning to read, write and work with their math skills.  The reason why is because the child's brain must mature until it's to a point of taking that information and connecting the dots with it.  THIS point of connecting the dots come when a child is in 5th and 6th grades and their brain is more mature and they begin to reason out effects and consequences and that kind of thing.  From about 5th grade on is when a child leaves it's infancy as to learning and begins to move on towards more adult like reasoning processes.  It's those years where illness will then trip up a child most for then they get behind and then they also get discouraged.   Brie's at a good age right now, Kim in that if you can concentrate her studies on her reading and writing and get her reading books - instill this desire to read in her - then you've got the foundation you need to get her through this situation she's in now with her studies.  This is another reason why home schooling may be ideal for her in that it's not a complicated age for teaching children.  It will also buy for you and her the time you both are needing for her doctors to finally figure out what is wrong and to get her stabilized so that she can get back to school and back into the demands of school life.

This is what, as her mom you need to concentrate upon - not just her health, but the overal aspect of her life and how she's living it.  Fewer demands upon her physically will keep her more stable.  The more limited exposure to viruses and such, the healthier she will be.  The more she'll be able to give attention to her studies and the easier learning will be.  


Well, I've rambled on long enough but these are some of what my thoughts are about your situation with her.  Like I said, I'm a school principal and a teacher and I know how kids are in the classroom when they aren't feeling well.  Heck, I know how I AM in the class when I'm not feeling well!   I honestly don't know how I got through this year, to tell you the truth!  My substitute teacher ended up disappearing on me after my surgery!   I went into surgery in early June and wasn't expecting to even show my face at my school until late September!  But my sub disappeared and we didn't have anybody else and so I dragged myself in for classes after our winter break in July and from August on I was there and had another teacher in there to help me!  It was a comedy to watch!  My kids were working on plaster sculptures (it was a great project!)  and they had a blast, but it's such a riotous mess that I had them on the patio out back with all of their scraping and sanding of the sculptures and I had to keep tottering out there like an old lady to keep abreast of their work so that they wouldn't bring the mess into the building!  

One last thought Kim - about learning.  Kids learn so very easily that it's incredible!  My children were able to fluently translate for their grandmothers (my mother and my mother-in-law) by the time they were each 2 years of age!  They could switch from Portuguese to English and back again at the flip of a switch, whereas I STILL struggle with Portuguese!   Children have a resilience within their minds that leave us adults gasping for breath and what you may fear is a total loss of a year is in reality absolutely NOTHING for Brie!   Don't fear her missing out on some school!  As long as you give her books to read that are interesting SHE WILL READ THEM!   Forget totally about books that go as according to her "reading level" that's trash!   Yep, you heard me, this thing of children reading books as according to their "reading level" is total trash and my own kids are proof to this!   Children will read anything that is INTERESTING TO THEM!  And that's how it should be!   I did not teach my children to read in English!   They were fluent speakers in English from the time they were born and English is the first language they heard and it's all we speak in my home.  But when they got into school, they had to learn to read and write in Portuguese (which they spoke with everybody else but me and my husband).  I tried teaching my eldest how to read in English at the same time and it was a mistake.   It created confusion and I realized that since Portuguese is the native language here in Brazil it was only right for me to give way.  Her whole educational career was going to be in Portuguese and I had to recognized that this was what was right.  So I backed off.  What I didn't know then was that the process of being alphabetized in a Western tongue which relies upon our alphabet and uses the same gramatical processes means that the only major difference between the two languages are that you've got two words or more for every item and so it's a question of vocabulary more than anything else, so I relaxed as to teaching my kids to read and write in English.   Instead, I instilled in them a love of reading!   I'd always read to my children from the time they were babies - it was part of the bedtime ritual and this is what made the difference.  Their grandfather decided to give my eldest two a series of Hardy Boys and Nancy Drew when my two eldest were 8 and 9 and THIS is what got them going!  They no sooner finished up those books than they began rifling the books we have for others literature and they both began working their ways up into MY small library!   My daughter when she was about 13 was reading Pride and Prejudice and LOVING JANE AUSTEN!   My son really got into reading the Michael Shaara books on the civil war and such!  My kids in their early teens were already at adult reading levels and could have cared less and certainly didn't even know it!  They LOVE to read and that's all that's mattered and if you were to sit down and get a letter from them, you'd see that their thought processes and capacity to write clearly are just as good as any other kid coming out of highschool in the States.    This was an incredible lesson for me as an educator as to how children learn and as long as you spark their interest, they'll not only learn anything you've got to teach them, they'll take over and end up giving you class instead!

So, Kim, RELAX!  Don't fret yourself too much about Brie and her classes.  She'll catch up!  As long as you teach her the love of reading, you will help her to keep up with her age group and when her health situation improves and stabilizes you will have a much happier child for not haveing been constantly under the gun due to your worries of not keeping up.  She'll catch up, believe me!   And she'll want to be in school for how much she's missed out due to how sick she's been.  The set back is temporary and in the long run - years from now when she's graduating from highschool and going into college you will see how really so very little she's missed out with these first years.  The key here is her reading ability, the rest will follow!


Lisa

Reply from lisathuler  


I got the CUTEST LITTLE TURKEY in the mail today!!!  And a great note so beautifully written by one of the prettiest little blonde 8 year olds I've seen in a LONG TIME!

Brie, I ABSOLUTELY LOVED your turkey!!!   Thank you so very much for having thought of me and for having made my day today!   I don't often get letters from 8 year old young ladies and it was an ABSOLUTE TREAT to get it from you!

And you look so yummy in your pink sweater that it makes me want to TAKE A BIG BITE out of you!!!    My children know that I love to Munch on them and I've only got my son Spencer who is 12 that I can bite anymore because my other two children, Jenny and Chris have gotten to old for Mommy Bites!   When I take a bite I usually also do a lot of tickling to go along with the bites!   So, your Mommy is going to have to do that for me instead!

Thank you so very much Brie for your card!   I've got it on my refrigerator and have shown your picture to my kids!  They are impressed that you would think of sending it to me.  

I hope I can send you one back in return.

Thanks again for the Thanksgiving card!  I LOVE it!  

I hope you are feeling better, Brie!   And I hope that Santa can give you something special and your brothers and sisters too for Christmas!

Much love to you!

Mrs. Lisa