I understand Deb.... and it is not your fault if we do not get a response. As I have explained I have tried several times to get both Dr. Akin and Dr. Castell's to help us find answers with Brie and the response has been discouraging.  Dr. Escribano on the other hand seemed quite concerned and even contacted Dr. Castell's himself.  That was the most confusing for me when she didn't offer to see Brie.  

The only way that I can look at it is that they see her as a "child" and we all know that the children usually have less severe cases and symptoms and usually have only the cutaneous form and usually outgrow it by puberty.  Thus I think they do not get as worked up about it as I do.

I wish I could get them to understand that she does not have the "typical UP" and her symptoms truly appear systemic.  And regardless of whether or not she outgrows it at puberty she is currently only 8 years old.... and has dealt with this DAILY for almost 3 years now and it affects her life on a daily basis.  Puberty is a long way off and to ask someone to continue to deal with this every day of their life for another several years - if in fact they can help lessen her symptoms and increase her quality of life - seems so unfair to me.  Her symptoms have actually PROGRESSED over the last 1 - 2 years, over the last several months for sure....

Ok..... I will stop.... I am hearing my own negative frustration and I do my best day to day to steer clear of this as this doesn't help Brie or I.  I have to continue to think positive and to push forward in every way I can.  Although it is a slow process I have belief that the answers will come... maybe not when and with whom I want them from but I have to accept that and think positive thoughts... positive thoughts... positive thoughts.....  

                                                                       Kim

Kim, I have a suggestion?? Give the contact info (email) to Bries doctor. iF he will email Dr Akins you have a better chance of an answer--because of "professional courtesy" between doctors.. They will always answer a doctor before they do a patient..you know how that goes LOL.. Good luck hon.
Hugs,
Ramona

One other update.... Brie's Pediatric Endocrinologists called me today.  She has spoken directly to her Pediatrician and Allergist / Immunologist and they all concur that Brie is to "unstable" to put through the Adrenal Stimulating Test at this point.  They fear she may have a negative response (reaction of some sort) and are concerned as to what this may be.  I do appreciate their concern and caution  and I am exstatic that SOMEONE (besides me) is finally seeing and believing how unstable her symptoms are!

They are going to take a more catious route.  They have ordered about 13 different labs that range from the "basics", to hormones, growth factors and Chromosome testing.  They need to get the Chromosome testing approved through Insurance 1st as I guess it is quite expensive.  She will then have to go in early one day (before 7AM) to have these done during the "Peak Level" times for these.
Depending on what these show will determine whether or not they feel it's necessary to take the risk for the Stimulation test.

They are also going to have a Pulmonary Function test done and have a Metabolic Specialist Consult and see Brieann.  The Endocrinologist is going to follow her growth and possibly start growth hormones on her.

So.... although I am sure this will all slow down their contacts with the Mast Cell Specialists, I am thankful that they are taking things seriously and ruling out every possibility - this will only strengthen the case that they can present to the Specialists.  Also it comforts me to know that there IS NOTHING ELSE WRONG with Brie.  It will put that question that is always in the back of my head to rest    I am also VERY happy that my concerns for her abnormally small stature are being addressed after 8 years of me brining it up to every doctor at every visit Brie has ever had!

                                                          Stay Well, Kim

Ruth;

     Thank you for your kinds words and support.  I need to be honest though in saying that the courage and strength that I have was not there a few months ago... I was beat down, worried sick and frustrated and felt I had been doing nothing but beat my head on a brick wall!  I tried and tried to get Dr.'s to help us and they all said that "they knew there was something going on with Brie but that they didn't know what" and that was as far as I would get for none of them wanted to take on such a time consuming complex case and to commit themself to the time that it would take.

It was then that I found this forum and I can honestly say that if it was not for the education here, and most importantly the support, encouragement and guidance to keep me pushing forward we would not be where we are today!!!  I truly credit each and every one of you for this!!!!  It means more to me than words can ever express - THANK YOU!!!!

                                                                         Kim

Kim I am sooo glad you finally have a great team there for both of you to lean on, things are turning around!
Much love,
Ramona

HALLELUJAH!!!!!!!!   THAT IS THE NEWS I'VE BEEN AWAITING FOR WAY TOOO LONG!!!!!!!  YIPEEEEEE!   You made my day Kim!!  Thanks!

Omigosh, Kim, it sounds like things have been beyond hard for you, and I'm so sorry to hear all that's been happening!  Hope Brie and you can get some answers from Dr. Castells and that it will be a great help in getting Brie well.

Kim,

I am really sorry to hear of the tragedies that are happening in your life right now.  Those are really devastating blows and I'm sorry they've all come at once!  Hard to swallow on a normal basis, but one on top of the other, yes, it is shocking to the brain and emotions!  I'm sorry!


On the other hand, what terrific news and what a tremendous burden that takes off of you!  Your hard work and insisting with everything is paying off finally!  And because you held on tight, insisting and standing firm in your convictions, your doctors have finally caught your vision and this is PERFECT!   I couldn't be happier for Brie!!!

Now, we need to keep our feet on the ground for remember, this is a rare disease and some of us are even more unusual than the others and even though you can't go any higher up than Dr. Castells, she still doesn't know it all and you may come home from seeing her still wondering what some things are and how to deal with them.  She will do her very best for Brie, that much I'm certain.  How much she'll be able to uncover and treat is another thing and it may take time to get it all sorted out.  But with your doctors following her lead, you will see, the treatment will be much improved and Brie will begin to improve.  

I hope you can get an appointment soon, or during the summer when it won't cause your kids or Brie any difficulties with school and homework.  Yet, I 'm really pleased to hear this good news!   This is great!!!

Hooray for Kim!!!  Hooray for Brie!!!  Hooray for Brie's smart doctors!!!! and Hooray for Dr. Castells!!!!