Saturday, October 8, 2011

Our Diseases

I have been too sick to do my normal posts...but last week I edited a post that used to be titled "About Mast Cells And Mastocytosis", and in the absence of my normal writing, I decided to re-post it since so much has changed.  It's long but in my opinion, worth the read, if you want to understand what we go through everyday. 

My son, daughter and I have a lot of medical issues.  It started with my daughter, then my son, and only after my son was sick did we discover the source of my daughter's issues, and then eventually what we've come to know as "some" of my own.
Initially, all three of us were told that we have either Systemic Mastocytosis or a Mast Cell Activation Disorder.  It made sense--we had all the symptoms and we responded to the medications well.  It seemed like a no-brainer.

So we went with it--we went so far with it that our whole life became about all things Mastocytosis.  Hours upon millions of hours of research, support groups, on-line forums, learning so much that I now have the ability to teach doctors about the affected how we ate, how we spent our time, what we did and didn't do, it was in the middle of absolutely everything.
Heck, it's even where my internet name came from--Masto is short for Mastocytosis--hence Masto Mama. 

However, as all of our masto symptoms became adequately managed, and time went on (it's been 3-5 years between the three of us), other symptoms began to present themselves....and these newly recognized group of symptoms--slowly but surely--started to paint an entirely new picture of what we all could really be dealing with. 

It made us ask, "Has it been this instead of this all this time? Or is it both?!"
We don't know the answer to that just yet but we're actively pursuing it as I type. 

Since there is uncertainty, instead of telling you about one big disease and how it affects all three of us, I will lay out the few that our doctors consider us to potentially have as of now (and keep in mind that everything but these have been ruled out) so that you can have a better understanding of what we live with everyday.
So.  First.  What is Mastocytosis?

Mast Cells
Mast cells are located normally in nearly all tissues in the body, and their greatest concentration is in the gastro-intestinal tract (GI tract), the skin, and the lining of the respiratory system.
Mast cells are involved in protection against infection, tissue repair and growth, control of blood flow into areas where it is needed, and communication with other cells of the immune system. Mast cells contain little packets of chemicals that can be released immediately when required. When they are released, the cell is said to “degranulate”.

Mastocytosis is the abnormal accumulation of mast cells (more than normal) that degranulate abnormally in response to multiple triggers.

Mast Cell Activation Disorder (MCAD)
Not a lot is known about this newly identified mast cell disease, but there is now a proposed diagnostic criteria that was submitted.  We know that people with MCAD have a normal or near normal amount of mast cells in their body, but these cells degranulate abnormally in response to multiple triggers.
The symptoms of MCAD and Mastocytosis clinically present in an identical matter, and distinguishing between the two conditions can only be done through biopsies of the skin and/or bone marrow.

Mast cell degranulation can be triggered by temperature changes, heat, cold, humidity, exercise, sunlight, emotional stress, infections, and certain drugs and foods. Sometimes the trigger is unknown. When degranulation occurs, it is known as “a reaction”. Mild reactions typically cause only a few symptoms that feel flu-like and more severe reactions cause anaphylaxis, and even shock.

Common symptoms include (I bolded the ones we experience):
  • *Behavior changes (extreme irritability, inconsolable crying, and lack of reasoning ability)
  • Flushing (facial redness)
  • Facial swelling
  • Hives and other rashes
  • Itching
  • Abdominal pain
  • Bone and muscle pain
  • Headache
  • Fatigue
  • Diarrhea
  • Vomiting, retching, or severe acid reflux
  • Nausea
  • Difficulty breathing
  • Low blood pressure (causes dizziness, palor, lethargy, weakness)
  • Shock, or cardiovascular collapse (heart stops pumping blood resulting in death)
 A serious complication of mastocytosis is prolonged ulcerative bleeding in the GI tract secondary to high levels of circulating plasma histamine. Almost all the symptoms of mastocytosis are caused by an increase of mast cell chemicals, or mediators, in the system.
Avoidance of triggers and daily medications are used to prevent the effects of the circulating chemicals:
  • Histamine 1 (H1) blockers-- like Atarax, Zyrtec, and Periactin
  • Histamine 2 (H2) blockers-- like Zantac and Pepcid
  • Leukotrine Inhibitors-- like Singulair and Zyflo
  • Mast cell stabilizers-- like Gastrocrom and Ketotifen
  • Proton pump inhibitors-- like Prevacid, Nexium, and Prilosec
 (each one of these medications, except for the nasal spray, but now with more prevacid, is given to my son 3-4 times a day, everyday just to live)
Additional medications are given to treat an acute reaction:
  • (H1) blocker (Benadryl)
  • (H2) blocker (Zantac)
  • Mast cell stabilizer (Gastrocrom)
  • Inhaled bronchodilator (Albuterol)
  • Epinephrine injections (Epi pen Jr.)
 What else do we have?

Gavin also has Zollinger Ellison Syndrome.
Zollinger Ellison Syndrome is a condition in which a gastrin-secreting tumor of the pancreas or small intestine causes excessive secretion of gastric juice, leading to intractable peptic ulcers.  He risks hemorrhage and death everyday due to the levels of gastric acid in his stomach all the time.

Some people with Zollinger Ellison Syndrome have Antral G-Cell Hyperplasia instead of a gastrin-secreting tumor.  So instead of a tumor that secretes gastrin, there is an abnormal growth and accumulation of gastrin- secreting cells in the antrum of his stomach. 

We haven't found the tumor but we did find the hyperplasia.  The condition is called a "Pseudo Zollinger Ellison Syndrome"--it's when there is hyperplasia instead of a tumor--but both present identically and have the same life-threatening risks. 

Right now, he stands with the Pseudo diagnosis.

He is maxed out on acid blocking medication and his next step is to have a partial gastrectomy to remove the antrum of his stomach--the area with the abnormal accumulation of gastrin-secreting cells.  We hope and pray that he is at least a teenager when that day comes, as the older he is, the less dangerous it will be for his body.

No one has ever been documented to have both Masto AND Zollinger Ellison Syndrome, so this has always been an unsolved mystery to us.

Both Gavin, Chelsea, and I are symptomatic of Dysautonomia.  It literally means dysregulation of the autonomic nervous system. 

Dysautonomia is a general term used to describe a breakdown, or failure of the autonomic nervous system. The autonomic nervous system controls much of your involuntary functions. Autonomic dysfunction can occur as a secondary condition of another disease process, like diabetes, or as a primary disorder where the autonomic nervous system is the only system impacted. These conditions are often misdiagnosed.

What are the Symptoms? (I bolded the ones that we have between the three of us):  
  • regulation of heartrate
  • regulation of blood pressures
  • orthostatic hypotension (low blood pressure when upright)
  • orthostatic intolerance (the inability to remain in an upright position)
  • syncope and near syncope (fainting)
  • severe dizziness
  • excessive fatigue
  • exercise intolerance 
  • migraines
  • gastrointestinal issues
  • nausea
  • insomnia
  • shortness of breath
  • thermoregulatory issues (regulating body temperatures, excessive sweating or lack of)
  • anxiety
  • tremulousness (tremors and myoclonus--me only)
  • frequent urination
  • cognitive impairment (brain fog)
  • visual blurring or tunneling
  • seizures (only febrile in Gavin)

Treatment is based on the condition, the sub-type and the patient specifics.  Treatment often includes pharmacological and non-pharmacological methods.  Fluid intake of two liters a day, along with an increased sodium intake is often recommended to help increase the patient’s blood volume (I get 2 liters of IV Fluids weekly and it helps so much).

 Various medications are commonly utilized and each is fine tuned to the particular patient. Medications will also typically require ongoing adaptations as the patient physiologically develops and changes. The hope is to be able to obtain enough symptom relief to initiate a gentle reconditioning program

I am also being tested for a Mitochondrial Cytopathy.  This is the big one that makes us ask, "Has it been mito all this time and not masto, or is it both?!?"  Only time will tell.
Mitochondrial cytopathies actually include more than 40 different identified diseases that have different genetic features. The common factor among these diseases is that the mitochondria are unable to completely burn food and oxygen in order to generate energy.
The process of converting food and oxygen (fuel) into energy requires hundreds of chemical reactions, and each chemical reaction must run almost perfectly in order to have a continuous supply of energy. When one or more components of these chemical reactions does not run perfectly, there is an energy crisis, and the cells cannot function normally. As a result, the incompletely burned food might accumulate as poison inside the body.

This poison can stop other chemical reactions that are important for the cells to survive, making the energy crisis even worse. In addition, these poisons can act as free radicals (reactive substances that readily form harmful compounds with other molecules) that can damage the mitochondria over time, causing damage that cannot be reversed. Unlike nuclear DNA, mitochondrial DNA has very limited repair abilities and almost no protective capacity to shield the mitochondria from free radical damage.

What are the symptoms of mitochondrial diseases?
The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients, only one organ is affected, while in other patients all the organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.
Depending on which cells of the body are affected, symptoms might include (and I bolded the ones we deal with):
  • Poor growth
  • Loss of muscle coordination
  • myopathy, myoclonus (muscle jerks), muscle tremors, muscle cramps, muscle stiffness
  • Visual and/or hearing problems
  • Developmental delays, learning disabilities
  • Mental retardation
  • Heart, liver, or kidney disease (having heart echo)
  • Gastrointestinal disorders, dysmotility, GERD, pseudo-obstructions
  • Respiratory disorders
  • Diabetes
  • Increased risk of infection
  • Neurological problems, migraines, neuropathy, tremors, seizures (febrile in Gavin)
  • Thyroid dysfunction
  • Dementia (mental disorder characterized by confusion, disorientation, and memory loss)
 How are mitochondrial diseases treated?
There are no cures for mitochondrial diseases, but treatment can help reduce symptoms, or delay or prevent the progression of the disease.
Treatment is individualized for each patient, as doctors specializing in metabolic diseases have found that every child and adult is "biochemically different." That means that no two people will respond to a particular treatment in a specific way, even if they have the same disease.
Certain vitamin and enzyme therapies, along with occupational and physical therapy, might be helpful for some patients.
Vitamins and supplements prescribed might include:
  • Coenzyme Q10
  • B complex vitamins: thiamine (B1), riboflavin (B2), niacin (B3), B6, folate, B12, biotin, pantothenic acid
  • Vitamin E, lipoic acid, selinium, and other antioxidants
  • L-carnitine (Carnitor®)
  • Intercurrent illness supplement: vitamin C, biotin

I am also being tested for Myotonic Dystrophy, Type 2.  It is the most common type of Muscular Dystrophy, Type 1 being the most disabling and heart-breaking.  This is the one that is least likely, but the only other possibility that has not been ruled out as of yet.

It is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). The condition is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness.

Signs and symptoms of myotonic dystrophy usually develop during the twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected by this condition. Facial and ankle muscles may also be affected but are less commonly involved. The severity of myotonic dystrophy type 2 varies widely among affected individuals, even among family members. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene. Treatment is based on the individual's specific signs and symptoms.

Myotonic dystrophy type 2 is characterized progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw. Individuals with myotonic dystrophy type 2 have muscle pain and weakness that mainly affects the neck, shoulders, elbows, and hips. Symptoms typically begin in a person’s twenties. Less common symptoms that may also appear are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), clouding of the lens in the eyes (cataracts), and diabetes. The severity of symptoms varies among affected individuals. Compared to myotonic dystrophy type 1, type 2 is milder and does not shorten an individual’s lifespan.

There is no cure or treatment; the symptoms are managed as best as possible.  

 So why am I going through testing to find out if I have Dysautonomia or Mito or both with a Mast Cell Disease or myotonic dystrophy or if one of the first two diseases has been masquerading as a Mast Cell Disease? 

It's because I now have too many severe symptoms that don't fit the clinical picture of Mastocytosis/MCAD.  My kids have always had a few that don't either, but because their clinical picture was mostly explainable, we chalked it up to those few things just being a weird anomoly.
We know for sure that I have a myopathy (a neuromuscular disease affecting my muscles). 

And because I have such issues in almost every body system, my doctors want to know what else is going on...what's causing all of this...and what's causing the myopathy? 

I want to know too. 

For me. 

And for my kids.  

My hope is that in all this we will find something new

 (regardless of what the disease names end up being)

that will help us even more-

So that each new day will (Lord-Willing) be

better than the last.

Thanks for reading! 
 For more information on Mastocytosis, click on any of the following links: The Mastocytosis Society (TMS), Masto Kids, and The National Institute of Health.

For more info on Dysautonomia, visit National Dysautonomia Research Foundation, Dysautonomia Kids Network, and Dysautonomia Network.

For more information on Mitochondrial Cytopathies, visit Mito Action.

For more information on Myotonic Dystrophies, visit the NIH Office of Rare Disease Research


  1. Wow. Thanks for explaining this so clearly. I am amazed to read about what you and your children go through. I will pray for answers! Thankfully, we serve a GOD who is a healer - maybe not of our bodies, but most definitely of our souls!!

  2. Hi! I too live in Southern California and MCAD fits me like a glove. I have done lots of research and will be sharing it with my allergist and primary doc in the morning. Doc tested my tryptase levels thinking it could be mastocytosis, but he said he didn't think my symptoms were quite that. My tryptase levels came back normal, as I hadn't t had any of my known triggers.
    Do you have any suggestions on doctors in So Cal who seem to truly know MCAS?
    Thanks so much!

  3. Did you ever get answers to your search for a diagnosis? I am suffering with the same thing as you. I am 40 and have had symptoms of mito and mast cell issues since I was a child and dysautonomia by the time I was 11 I know.
    A few years ago it suddenly got much worse after a bad episode of poison sumac that last a couple months.
    The mast cells got worse.
    But my mito symptoms got much worse just over 10 yrs ago and I didn't realize it. I do not know what the trigger was to suddenly make the symptoms increase.
    But then 2 years ago, along with 7 other family members, I was diagnosed with Ehlers Danlos Syndrome - hypermobile type. It turns out all of these issues run together and create cycles so that your mitochondria can cause broken down collagen which can cause unstable mast cells which can cause further mitochondrial dysfunction.
    I'm focusing on the GAPS and Paleo Autoimmune Protocol right now to try to calm down my immune system (mast cells) which cause dysautonomia so bad that I can't stand up at times.
    I started writing about it at

    1. Me and my two children have both been told we have mast cell activation disorder and dysautonomia. My oldest son was also diagnosed with Ehlers Danlos Syndrone due to a severe spinal deformity. We have also been told we could have mitichondrial disorder but that was never established. It seems that all these illnesses are very closely related. I too would just like to have a diagnoses so as to help with my children's future so I will never give up trying to figure this out.

  4. Wow!!! Where were you able to get diagnosed and treated? I have suffered from severe, daily, seizures. Most of which are status epilepticus. Those started to subside and briefly, I felt great. Then, everything started sliding downhill. First fatigue, weakness, syncope, and horrible stomach pain. Now, I'm recuperating from a bout of myoclonus that flung me off the bed, then again on the kitchen floor, and a few more while the emt's kept an eye on me. I refuse to go to the er anymore because they just regard it as a seizure. In a way, they are, but after 20+ years of epilepsy, I know the difference. I have complete venous insuffiency now because I have no diagnosis to get meds to help the blood from staying pooled in my legs. I pee constantly and with urgency, have very bad dermatographism around any cut, scrape, or even iv or blood draw site. I'm at my wits end and need to find a dr to help me!


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