My Crazy Life: A Humorous Guide to Understanding Mast Cell Disorders

My Crazy Life: A Humorous Guide to Understanding Mast Cell Disorders

Third Edition

Copyright © 2014 Daniel Hodge

Revised Feb 2018

All rights reserved.

ISBN: 978-1-329-10682-6

Dedications

Pam wants to dedicate this book, in particular order, to:

Dan, my loving husband: Thank you for loving me with action when I needed help and for never leaving my side. Thank you for putting this book together for me. Without you, it would not exist.

Our children - Gabrielle, Emily, and Bethany: Thank you for enduring all the struggles and altering your life so I can live mine.

My friend, Lori: Thank you for fulfilling the definition of a friend. A friend is someone who does things that count, but doesn’t stop to count them.

Our dog, Riley: Thank you for sitting outside my bedroom door for months on end.  You prove without a shadow of doubt that animals love unconditionally and actions speak louder than words.

My broken friendships: I pray that God will give you discernment and you will learn to use it before you speak.

Legal Stuff

C:\Users\Pam\AppData\Local\Microsoft\Windows\Temporary Internet Files\Content.IE5\XIDRK0QJ\MC900351700[1].wmf Right off the bat I want to say that I am not a doctor and I don’t play one on T.V.  I am not writing this to diagnose anyone. It has not been endorsed by the food and drug administration…okay you get the point. In case you don’t – what works for me may not work for you. If you are having a medical emergency, including anaphylaxis, chest pain, difficutly breathing, severe abdominal pain, etc, please seek medical attention.

I AM writing this to help identify the bizarre symptoms of Mast Cell Disorders.  To help family and friends understand that mast cell disorders can look pretty bizarre. Because of the unpredictable nature of this disease, many people who are close to us tend to jump to the conclusion that we are making up the symptoms or that we are faking. Some will go so far as to say we are crazy or have mental illness.

You would think that getting a diagnosis from a specialist would help curb these accusations.  Unfortunately, that is not always the case.  I am saddened when I read over and over that someone’s mother, wife, friend or husband does not believe them, that it is all made up or all in their head. This book is also for you- unbelieving mom, wife, friend and husband. 

Imagine, if you will, falling off a bike and breaking your arm.  The pain is immediate and real.  Now imagine going to the ER and the doctors looking at you and telling you that you are just upset about the accident, nothing is broken.  All the while you know it is. You can see the bone sticking out.  Now you are  told to calm down and sent home. Take a few pills and all will be better.  You try to tell your mother, wife, friend or husband that you definitely broke your arm. They disagree because the ER doctor said it was fine, it must be fine.  A few days go by and your arm is swollen and red, the pain is unbearable. Your mother, wife, friend or husband tells you to get over it, there is no way your arm is broken - it’s all in your head.

Now how would you feel?  Would you feel loved and cared for?  Or would you feel sad and confused about the fact no one can see your broken bone sticking through your skin?  Of course you would feel sad and confused. You would have physical pain from the broken arm, but you are also going to have emotional pain from the people so quickly dismissing you as making it up or looking for attention.

Will this ever really happen? No, because modern medicine and technology can x-ray that arm.  Anyone with sight can see the bone sticking out. You would get reactions from everyone around you.  Someone may even be sick at the sight of the bone sticking out.  Someone might feel upset and want to help out, maybe bring you a meal.  Someone might even want to sign your cast!

When people can relate to a situation, like a broken arm, they have empathy towards people. They can understand the pain involved and what it will take to heal.

When it comes to rare disorders, very few can have empathy.  With a mast cell disorder, things are happening at a cellular level and people can’t see that.  All they can see is the reactions that occur after a trigger.  Their perspective is very one-sided and understandably so. On top of their inability to actually see the mast cells reacting, there are a lot of emotional reactions that people don’t understand.  Unlike the broken arm, things are physically happening in the body and the brain that cause depression and anxiety, but these things can’t always be seen.

Remember, just because you can’t see things doesn’t mean they are not real. Can you see air? Can you see love? Can you see gravity? These are things you can’t see with the human eye and yet everyone will admit they are real.

X-rays were invented in 1895 by a German physicist named Wilhelm Conrad Röntgen.  A little over a hundred years ago people had to use other methods to detect a broken arm. They had to believe what they couldn’t see and make educated guesses on how to best go about fixing the problem.

Even with today’s modern medicine, mast cells and their functions are a topic of research. Research has barely scratched the surface in diagnosing and treating mast cell disorders. If you consider how rare mast cell disorders are you might understand why your patient-your daughter, husband, friend or wife-seems a bit odd or different.  It is because they are! They are on the cutting edge of science.

I know I’m odd-I call myself a freak-but in a loving way.  I am, like many others, a canary, your canary in a coal mine. What is hurting us is most likely hurting you, but undetected.

From the perspective of my family, all of my reactions are either seen or unseen. They have seen me throw up, but they can’t see my throat swell.  They have seen me flush and turn red, but they can’t see my nausea.  There are going to be symptoms that people don’t see.  At some point you will need to accept that you can’t see things on a cellular level but a patient-your daughter, husband, friend or wife-can feel it.

I challenge you to take the time to read this book, to look at the links provided and to do some research into the unknown.  Step up instead of stepping back.

I also wrote this to help make the light bulb turn on for patients and to help them connect some dots.  In my search for information on Mast Cell Disorders, I never found a book that was not a medical journal intended to be used by a medical student or doctor.  So, I am writing this from the patient’s perspective.

I AM ONLY AN EXPERT ON MYSELF, NOT OTHERS.

This guide does not list and contain every symptom possible. I do list throughout the guide helpful links and forums that contain extensive lists.  Including every list would make this guide into an encyclopedia!  Although Mast Cell Disorders are rare, there is a lot of information about them on the internet.  Finding it when it is scattered throughout the internet is the hard part.  I have gathered the information for you.  I hope to help by having a lot of it in one spot and to help guide you to it. The electronic version of this book contains many links that worked at the time it was published, but over time, the locations of pages and the URL can change. If a link doesn’t work, please google the information.

Preface

Sometimes life gives us lessons sent in ridiculous packaging.

Dar Williams

Over the past three years I have learned some valuable lessons.  Some lessons didn’t cost as much as others. Some lessons I stumbled upon and others I learned the hard way. I have learned that illness can separate and isolate but it can also bring people closer. I have learned that you don’t really know someone until you need something from them, then you find out very quickly about their character. I have learned that life is fragile and fleeting and you must handle it with care. You must try to enjoy every moment of every day and recognize that it really is about the small stuff. Here are some of the other lessons I have learned:

1 - Mast Cell Disorders

This disorder is not easy to diagnose. In fact, it is one of the last things to look for after years of doctor visits and tests.  It is so rare that the patient is often misdiagnosed and therefore not treated with the proper medications. 

I think one of the best ways to understand a mast cell disorder is to first understand what a mast cell is and what it does.  Mast cells are part of the immune system.  Their job is to defend against pathogens and to help heal wounds. They also fight against allergens. They protect us and fight unseen battles going on in the body.  When you have a mast cell disorder, you either make too many mast cells or the ones you have start misbehaving, or acting on their own -- firing at will.  Too much of a good thing is not always good. 

Mast Cell Disorders include Mastocytosis and Mast Cell Activation Syndrome (MCAS).  Mast cell disorders can be genetic, but not always.  Scientists have found there is a mutation in a gene that causes Mastocytosis. With more research, most likely more genetic markers will be found.  There is no cure, but mast cell disorders can be controlled with the proper medication. Mastocytosis can be separated into two categories – Cutaneous Mastocytosis (CM) and Systemic Mastocytosis (SM). CM is considered disease of the skin. The majority of children who have Mastocytosis have the cutaneous form.  A large percentage of those children will outgrow it before puberty.  People who have Systemic Mastocytosis can have the cutaneous type as well.  There are some people who have the cutaneous form and never get the systemic form. You may have heard the saying Some have spots, some do not, this is referring to having the cutaneous form with spots or the systemic form without spots. 

Systemic Mastocytosis comes in several forms. Each of these forms creates havoc in the body and can be life-threatening, some more than others. These include:

Indolent Systemic Mastocytosis (ISM)

Systemic Mastocytosis with associated clonal hematologic non mast cell lineage disease (SM-AHNMD)

Aggressive Systemic Mastocytosis (ASM)-this is a rare form.

Mast Cell Leukemia (MCL)-This form is very rare, the cells are considered malignant or cancerous. 

The WHO (World Health Organization) recently started recognizing Mast cell Activation Syndrome (MCAS).  A super simplified explanation would be to say with MCAS you have the correct number of mast cells but the ones you have are misbehaving.  In fact, they can trigger due to many things, food or smells that are unavoidable throughout one’s day or for no reason or cause at all.

With Mastocytosis, for unknown reasons, the body makes too many mast cells and this can cause multiple problems in the skin and organs. Plus you have all those extra mast cells misbehaving.

When misbehaving, the mast cells degranulate or spew histamine, heparin and other chemicals at an alarming rate.  This can result in several reactions -- everything from hives, nausea, vomiting, diarrhea, and anaphylaxis. 

At this time, treatment is the same for both MCAS and Mastocytosis.  So whether you have a mob of mast cells or you have hooligan mast cells, treatment usually starts with H1 and H2 antihistamines.  This is usually followed by mast cell stabilizers, if the antihistamines alone are not enough. Mast cell stabilizers include Gastrocrom (generic is call Cromolyn) and Zaditor (generic is called Ketotifen). Ketotifen is not FDA approved in the United States. You can buy the name brand from other countries.  It is also legal to get it compounded in the United States. Singulair, a leukotriene inhibitor, has been helpful in treating symptoms as well.

Others have found Xolair to be helpful. Chemotherapy is used for those with mastocytosis if other treatments are not effective.

I am currently taking Allegra (H1) twice a day, Zantac (H2) twice a day, Cromolyn four times a day, and Ketotifen twice a day.  Singulair was added last year and has really helped.  Strangely, I couldn’t tell it was even working until I went off of it.  That is when I could tell it had been helping!  I started triggering or reacting to many things when I went off of it.  So I went right back on it.  In case you are wondering, Singulair is a drug for asthma sufferers; however its main job is to block the leukotriene, which is one of the spewing chemicals. 

Due to the unpredictable nature of the disease, all mast cell patients should carry two Epi Pens with them at all times unless told otherwise by a doctor.  (For patients on Beta Blockers, Glucagon may need to be administered- please discuss this with your doctor).  I want to repeat that last sentence…TWO Epi Pens at all times.  Originally, I was unaware of the need to carry two all the time.  I learned in the ER why you should carry two.  I had a rebound anaphylaxis event.  I was treated with Epinephrine, steroids, and Benadryl and responded well.  For unknown reasons the anaphylaxis returned (rebound) and I had to be treated again.  So you always want two doses with you at all times in case the first dose is not enough.  Always call for emergency assistance when you need to use an Epi Pen!

What causes the mast cells to misbehave? It is usually triggers or allergens. Although, a true