WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Saturday, August 25, 2012

Mast Cell Activation Syndrome

A couple weeks ago I had written to a specialist who is helping to define Mast Cell Activation Syndrome. Currently, while most Mast Cell Specialists recognize MCAS is a condition within MCAD, there isn't any diagnostic confirmed criteria established. The Specialist responded and gave us a flutter of hope that maybe some of what is going on with Abby is Mast related. This coming week we are going to run some more blood work and see if it is a potential and then see if we can try a few of the treatments to see if they alleviate some of Abby's misery.

We still agree there is a Myopathy and that without a doubt there is a Depletion-based on her muscle biopsies and medical records since the womb, and Dr. Kendall but Abby certainly doesn't do a very good job fitting into the clinical picture :-). I think the fact that the medicines,corn, miralax all caused such shocking responses, from drops in BP to more fatigue, horrid rashes, joint and muscle pain and weird edema. Then also the fact that just leaving the house can trigger the same symptoms is what has lead us to want to rule out the Mast diagnosis. Interestingly enough, the Specialist said Abby's weird kidney issues have also been found in the MCAS population.

I have also gotten the sweetest notes from a few people who have read my blog who have also encouraged us to explore MCAS and whether that is the heart of the issues with Abby. I cannot tell you grateful I am to the patients,Mom's,friends who take the time to read Abby's blog and have taken the time to try to help us figure it all out.

This is a great publication that outlines MCAS well. The paragraph below is what caught our attention -

Mast cell activation disease comprises disorders characterized by accumulation of genetically altered mast cells and/or abnormal release of these cells' mediators, affecting functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing. In most cases of mast cell activation disease, diagnosis is possible by relatively non-invasive investigation. Effective therapy often consists simply of antihistamines and mast cell membrane-stabilising compounds supplemented with medications targeted at specific symptoms and complications. Mast cell activation disease is now appreciated to likely be considerably prevalent and thus should be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity or patients in whom a definitively diagnosed major illness does not well account for the entirety of the patient's presentation.

Fits our Abby enough to justify investigation.

A friend on one of my groups shared that a Dr. Theoharides who is one of the top Mast Cell specialists in the World found that Mast cells can disrupt the mitochondria- so I am hanging onto that little jewel of information as well.

I have found it very interesting on our journey how many Mito patients have a whole slew of other conditions triggered by the Mito, or that trigger the Mito(our hope.).

If this is ruled out, I am not exactly sure which direction we will go next. Maybe exome testing will give us a better idea. Or maybe we will find Abby just has her very own thing going on! We always tease that our families excel at creating one of kind people.


Anonymous said...

Oh Diane
I hope you find some answers. There so many things that overlap and inter relate. I wish science would catch up and that the specialists would all be able to talk to each other.
Following your story is inspirational.

Diane said...

Hugs Jo! I have been terrible about updating the group- hope you and yours are doing well and had a terrific time in Canada this summer!

Anonymous said...

No worries. You have been busy. Abby is lucky to have such a caring Mom.
When you get chance email me if that is okay. We have hit bumpy road...
Hugs to you all.

Linda Malloy said...

Dr. Jackson Roberts III, Vanderbilt University, has been treating a subset of Mast Cell Activation Disorder for many years. I believe he may still be at Vanderbilt.
In an article "Alone Inside My Head," written by Kathleen Finn, a Stanford
Masters degree graduate about 30-35 years ago for the Stanford alumni publication, I learned about Dr. Roberts. He was using Zaditen (Ketotifen Fumarate) to treat his patients. At the time it was Sandoz's widest selling drug for asthma in the world. I had to beg my Dr. three times before he agreed to give it to me. It has saved my life. I was able to keep working, full time.
I've found that only the brand name is safe and reliable. Generics are not made correctly. It is now made by Novartis. I get it from North Drug Store in Canada and it usually comes from Turkey, Thailand or Great Britain. It requires a Dr.s prescription. Both my allergist and endocrinologist write my prescriptions. I take 1.5 grams in a.m. and 1 gram in p.m. There is a caution. If you begin to take it, you must begin in *very* small doses - i.e.: 1/2 tablet in a.m. for several days, then 1/2 a.m. and 1/2 in p.m. for several days, then 1 in a.m and 1 in p.m. for several more days and then adjust to what works for you. Larger doses initially will cause dizzyness.

Zaditen is a mast cell stabilizer. It really works. I took 1 gr. in a.m. and 1 in p.m. for a year and then later realized that a slightly larger dose would help more. Zaditen is not manufactured for oral use in the U.S. I would be dead by now, without Zaditen.

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