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Lisa Klimas

I'm a 35 year old microbiologist and molecular biologist with systemic mastocytosis, Ehlers Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Adrenal Insufficiency, and an assortment of other chronic health issues. My life is pretty much a blast.

The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 3

I have answered the 107 questions I have been asked most in the last four years. No jargon. No terminology. Just answers.

6. What symptoms does mast cell disease cause?

  • Mast cell disease can cause just about any symptom. Seriously.
  • Mast cell disease can cause symptoms in every system of the body. This is because mast cells are found in tissues throughout the body. They are intimately involved in lots of normal functions of the human body. When mast cells are not working correctly, lots of normal functions are not carried out correctly. When this happens, it causes symptoms. In short, mast cells can cause symptoms anywhere in the body because they were there already to help your body work right.
  • Skin symptoms can include flushing, rashes, hives (urticaria), itching, blistering, and swelling under the skin (angioedema).
  • GI symptoms include nausea, vomiting, diarrhea, constipation, problems with the GI not moving correctly in general (GI dysmotility), swelling of the GI tract, chest and abdominal pain, belching, bloating, discolored stool, excessive salivation, dry mouth, and trouble swallowing.
  • Cardiovascular symptoms include high or low blood pressure, fast or slow heart rate, irregular heartbeat, and poor circulation.
  • Neuropsychiatric symptoms include brain fog, difficulty concentrating, difficulty sleeping at night, excessive tiredness during the day, grogginess, anxiety, depression, tremors, numbness, weakness, burning and tingling (pins and needles), hearing loss, and auditory processing (difficulty understanding what was said to you).
  • Genitourinary symptoms include bladder pain, painful urination, painful intercourse/sexual activities, painful or irregular menstrual cycle (periods), and excessive or inadequate urination (too much or too little urine produced).
  • Respiratory symptoms include cough, excessive phlegm, wheezing, runny nose, sinus congestion, sneezing, and swelling of the airway.
  • General symptoms include fatigue, lack of stamina, difficulty exercising, itchy or watery eyes, and bruising easily.
  • There are some additional symptoms that I have observed in a large number of people that are not classically considered mast cell symptoms, but I now firmly believe them to be. One is fever. I think discoloration of the skin may be mast cell related for some people. Another is dystonia, involuntary muscle contraction, which can mimic appearance of a seizure. There are also different seizure-type episodes that may occur due to the nervous system being overactive. I am reluctant to call them pseudoseizures because that term specifically means they are caused as a result of mental illness. I have no evidence that these seizure-type episodes in mast cell patients occur due to mental illness. I personally refer to them as “mast cell derived seizures.” (For people who are wondering, I have been heavily researching this phenomenon and have some theories about why this happens. It’s not fleshed out enough yet to post but it’s on my think list.)
  • Having mast cell disease can make you more likely to have other conditions that cause symptoms.
  • I’m sure there are other symptoms I have forgotten to mention.

7. Why are skin and GI symptoms so common?

  • The skin has a lot of mast cells relative to other tissues. Your skin also comes into contact with lots of things in the environment. Think about the things your skin touches on a daily basis! It makes sense that it would get the exposure so skin symptoms can be common. Additionally, some of the chemicals mast cells release can cause fluid to become trapped in the skin. For these reasons, symptoms affecting the skin are pretty common.
  • The GI tract also has a lot of mast cells relative to other tissues. Your GI tract also comes in contact with lots of things in the environment. Let’s think about this for a minute. Your GI tract is essentially one long tube through your body. You put things from the environment in your GI tract at the top and they come back out the bottom of the tract. In a way, your GI tract is kind of like the outside of the inside of your body.
  • This is the analogy I learned in anatomy and physiology class to visualizing the GI tract as the outside of the inside of the body. Think of the body as a donut. (A low histamine, fully allergy friendly, requires no GI motility, wonderful donut.) Now think of the GI tract as the donut hole. You can put your finger through the hole in the middle of the donut. Only that center part of the donut will touch your finger. This is kind of like putting food throughout the GI tract. That food only touches a very small part of the body as it passes through.
  • Since what we put into our mouths (or other GI openings) is from the outside, your body has many mast cells in the GI tract to protect the body. Some of the chemicals mast cells release can cause fluid to become trapped in the layers of GI tissue. Some of the medications we take for mast cell disease can affect the GI tract. Some of them change how much acid we make in our stomachs. Some of them slow down the GI tract. A few of them speed it up or make the GI tract more fragile. For these reasons, symptoms affecting the GI tract are very common.

For more detailed reading, please visit these posts:

The Provider Primer Series: Management of mast cell mediator symptoms and release

The Provider Primer Series: Mast cell activation syndrome (MCAS)

The Provider Primer Series: Cutaneous Mastocytosis/ Mastocytosis in the Skin

The Provider Primer Series: Diagnosis and natural history of systemic mastocytosis (ISM, SSM, ASM)

The Provider Primer Series: Diagnosis and natural history of systemic mastocytosis (SM-AHD, MCL, MCS)

The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 2

I have answered the 107 questions I have been asked most in the last four years. No jargon. No terminology. Just answers.

3. What causes mast cell disease?

  • The cause of mast cell disease is not yet definitively known.
  • As mentioned yesterday, when the body makes too many copies of a broken cell, those cells are called ‘clonal’ cells. In clonal forms of mast cell disease, the bone marrow makes too many mast cells. Those mast cells also don’t work correctly. Examples of clonal mast cell diseases are systemic mastocytosis and cutaneous mastocytosis.
  • Patients with systemic mastocytosis often have a specific genetic mutation called the CKIT D816V mutation. About 80-90% of systemic mastocytosis patients have this mutation. This mutation is in mast cells and it tells the mast cells to stay alive WAY longer than they should. And mast cells already live for months or years, a very long time for cells to live in the body. So patients with this mutation can end up with way too many broken mast cells.
  • Despite the fact that we know that many patients have this mutation, we do not say that this mutation CAUSES the disease. The reason for this is that sometimes, mast cell patients don’t have the mutation when they get sick but they develop it later. Sometimes, mast cell patients have the mutation and then lose it later. So we are still looking for something that causes the disease.
  • Patients with non-clonal mast cell disease do not have a single major mutation like the CKIT D816V mutation. This makes it harder to diagnose. Researchers have found that many times, patients with MCAS DO have mutations similar to the ones systemic mastocytosis patients do. But the MCAS patients often have different mutations from each other. That’s why it’s not helpful yet for diagnosis.
  • Despite the fact that the mutations described here are not considered to be heritable, there is more and more evidence that mast cell disease can happen to many people in the same family. See the next question for more details.

4. Is mast cell disease heritable?

  • Mast cell disease often affects multiple members of the same family. Importantly, patients often have a different type of mast cell disease than their relatives. This implies that mast cell disease is more of a spectrum rather than several different diseases.
  • A survey found that 74% of mast cell patients interviewed reported at least one first degree relative that had mast cell disease. This same study found that 46% of those patients had mast cell disease that affected more than just their skin. This is called systemic disease.
  • The CKIT D816V mutation is the mutation most strongly associated with clonal mast cell disease. The CKIT D816V mutation is NOT heritable.
  • There are very rare instances of other heritable mutations in families that have mast cell disease. The significance of this is not clear.

5. Can mast cell disease be cured?

  • Generally speaking, there is no cure for mast cell disease.
  • Children who present with cutaneous mastocytosis sometimes grow out of their disease. Their lesions disappear. Their mast cell symptoms affecting the rest of the body may disappear. We do not know why this happens. It has been heavily researched with long term follow up of children with childhood mastocytosis (at least one paper followed them for 20 years).
  • Children with true systemic mastocytosis do not grow out of their disease.
  • There is not yet data on children with MCAS. Anecdotally, they do not seem to grow out of their disease like kids with cutaneous mastocytosis can. Importantly, this is just what it looks like to me. Again, there is no data.
  • People with adult onset mast cell disease have lifelong disease.
  • There is one notable exception to this scenario. There are reports of curing mast cell disease following hematopoietic stem cell transplant/bone marrow transplant.
  • Transplantation is EXTREMELY dangerous. The transplant is MUCH, MUCH more dangerous than mast cell disease. Many people do not survive the protocol necessary to prepare for transplant. Many die from complications, or from a disease they acquired after their transplant.
  • Rarely, people may have malignant forms of mast cell disease, aggressive systemic mastocytosis (ASM) or mast cell leukemia (MCL). A few patients with these diseases have tried transplants after everything else failed. While some did see improvement after transplant, no one has survived more than a few years.
  • Conversely, sometimes people with mast cell disease have these transplants for other reasons, like having another blood cancer or bone marrow disease that requires transplant. In this group of people, some see drastic improvement of their mast cell disease. Some see a full remission of mast cell disease. Some do not get any improvement. These findings are pretty recent so it’s hard to be more specific.

For more detailed reading, please visit these posts:

The Provider Primer Series: Introduction to Mast Cells

The Provider Primer Series: Mast cell activation syndrome (MCAS)

The Provider Primer Series: Cutaneous Mastocytosis/ Mastocytosis in the Skin

The Provider Primer Series: Diagnosis and natural history of systemic mastocytosis (ISM, SSM, ASM)

The Provider Primer Series: Diagnosis and natural history of systemic mastocytosis (SM-AHD, MCL, MCS)

Mast cell disease in families

Heritable mutations in mastocytosis

The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 1

I have answered the 107 questions I have been asked most in the last four years. No jargon. No terminology. Just answers.

  1. What are mast cells?
    • Mast cells are white blood cells that live in tissues. It is a little misleading that mast cells are white blood cells because they don’t live in the blood. Mast cells are born in the bone marrow, the squishy tissue inside bones where blood cells are made. From the bone marrow, they are sent to the blood stream. Mast cells use the bloodstream to carry them to their final destination so they do not stay in the blood for very long. Mast cells move out of the blood stream and into tissues throughout the body. Mast cells live for months or years, a long time for cells to live in the human body.
    • Mast cells do many things in the body. They are largely responsible for allergic reactions and anaphylaxis. They have many other jobs, like healing wounds, regulating reproductive activities (menstruation, pregnancy), and fighting infections from viruses, bacteria, fungi, and even intestinal parasites like worms. The original function of mast cells thousands of years ago was probably to fight off intestinal parasites. Mast cells are found in many tissues and are essential for correct functioning of the body.
    • Mast cells have many pouches inside of them called granules. These granules hold chemicals made by the mast cells. These chemicals help the mast cells to do their various jobs. They also help mast cells to communicate with other cells nearby or in other parts of the body. These chemicals can be released into the bloodstream to signal for other immune cells to come to the mast cell that released them.
  2. What is mast cell disease?
    • Mast cell diseases are rare diseases in which your body makes too many mast cells and/or mast cells do not function correctly. In the US, diseases that affect fewer than 200,000 people are called rare diseases.
    • Mast cell diseases are broadly classified into two groups: clonal and non-clonal (also called proliferative and non-proliferative).
    • When the body makes too many copies of a broken cell, those cells are called ‘clonal’ cells. In clonal forms of mast cell disease, the bone marrow makes too many mast cells. Those mast cells also don’t work correctly. They use too much energy on the wrong things. Because these mast cells are often busy making truble, they don’t have as much energy to do their normal necessary functions.
    • Clonal mast cell diseases include all forms of systemic mastocytosis (indolent, smoldering, aggressive, and mast cell leukemia); all forms of cutaneous mastocytosis (urticaria pigmentosa, of which telangiectasia macularis eruptiva perstans is a subtype, diffuse cutaneous mastocytosis); mastocytoma (usually found on the skin but also found elsewhere); mast cell sarcoma; and monoclonal mast cell activation syndrome. Importantly, in clonal mast cell diseases, the problem is not just that too many mast cells are made – those mast cells must also be dysfunctional for the disease to be clonal.
    • In non-clonal mast cell disease, the number of mast cells may be normal, but the cells are broken. Importantly, people with non-clonal mast cell disease may make more mast cells than normal, but not enough to be considered a clonal disease. In these diseases, even if the bone marrow makes the normal amount of mast cells, they still do not work correctly. They use too much energy on the wrong things. Because these mast cells are often working to inflame the body when it is not needed, they don’t have as much energy to do their normal necessary functions.
    • Non-clonal mast cell diseases include all other forms of mast cell disease: mast cell activation syndrome (secondary and idiopathic); familial hypertryptasemia; and mastocytic enterocolitis, which is recognized by some groups as its own disease, and by other groups as part of different mast cell diseases.
    • In these diseases, mast cells do not function properly. In all mast cell diseases, mast cells can get irritated easily. They respond to things in the environment and inside the body that they think are dangerous, even when those things are normal and safe for most people. This response is called mast cell activation.
    • Mast cell activation causes many symptoms. Many of these symptoms are “allergic” in nature. Some are not directly recognizable as “allergic”. Symptoms can affect every bodily system or may be localized to only one or two. It differs from person to person and can change over time within a person. You cannot know which mast cell disease a person has based upon their symptoms.

For more detailed reading, please visit these posts:

The Provider Primer Series: Introduction to Mast Cells

The Provider Primer Series: Mast cell activation syndrome (MCAS)

The Provider Primer Series: Cutaneous Mastocytosis/ Mastocytosis in the Skin

The Provider Primer Series: Diagnosis and natural history of systemic mastocytosis (ISM, SSM, ASM)

The Provider Primer Series: Diagnosis and natural history of systemic mastocytosis (SM-AHD, MCL, MCS)

Even once

I receive excellent health care. I have a large care team including an attentive PCP that is willing to take advice on managing mast cell disease; a mast cell GI specialist; an excellent colorectal surgery; a wonderful home care nurse; and a bunch of other people. I live in a city renowned for health care innovation. When I call 911, the ambulance brings me to my local hospital, a place that treats mast cell patients from around the world. I have access to medications I need. My providers are open to hearing my input because they acknowledge that I am an expert in these diseases. I have great insurance and can afford the costs of my healthcare. I can afford safe food. I have a safe place to live. I have local support from family and friends. I have a job that gives me the flexibility I need to balance my health and my work.

I am extraordinarily lucky in these respects. I am very, very cognizant of my privileges in receiving health care. Despite these privileges, I struggle every single day to facilitate my health care. I spend hours on the phone. I have an excel sheet that tells me when I need refills of my meds, when I have to schedule appointments, when I am due for various tests, and how much all of that will cost. It keeps track of prior authorization numbers, which pharmacy or office is responsible for prescribing/ordering and the name and direct line of my contact there. I have notes all over my house and reminders littered throughout my daily journals. But even when I do everything right, I sometimes have to exert a superhuman amount of effort to get something as straightforward as a refill for a harmless medication with no potential for abuse.

I have written before about how stressful this aspect of my life is. Nothing is ever easy. And everybody’s life is hard, whether they are sick or not. The difference is that rare disease patients have so many more high stakes things to do on a daily basis. It’s not an option for any of these moving pieces to fall off the board. Letting even one thing falter could be catastrophic. I am constantly worried that I am forgetting something. Not realizing that I’m out of one med for a few days can result in hospitalization. Accidentally putting two of the same pill into my morning slot in my pill box could sicken me for days.

There’s another facet of this experience, too: that most of the things we need require cooperation from someone else. An admin, a nurse, a pharmacy tech, a doctor, a case manager. These people all wield a disproportionate amount of power.

Part of learning to survive as a rare disease patient is learning how to finesse relationships and convey your needs without being overbearing. You have to learn how to converse with people without arguing, ever, because once you are arguing, you have already ceded control. It is not easy. No one likes to be told how to do their job, even if they are doing it wrong and you can improve their skills and your care. No one likes to be spoken sharply to, even if they deserve it. No one likes to feel like they are not good at their job, even if they’re not.

But the biggest danger is this: that even if you do every thing right, if you say and do all the right things, if they accept your demonstration that you need and are entitled to these things, sometimes they still won’t cooperate. Not necessarily because they don’t like you. Just because.

When you tell this to people living outside of the machinations of the healthcare establishment, they think you’re nuts. Why wouldn’t they help you, if you’ve given them no reason not to? But to say that these people would never deprive you without reason is to ignore a key feature of human nature: that sometimes, people just want to see what will happen. And in health care, when many people view patients as obstacles or enemies, they often find out what will happen: they will win a tiny victory, and we will suffer.

I saw over 100 doctors before I was diagnosed with mast cell disease. I was a long term patient for several years in a department that treats my disease before it was caught. In that time, I collected a number of diagnoses, some correct but not the major problem, and many others that were completely inaccurate. Those diagnoses follow you.

So even now, several years and lots of irrefutable document after correct diagnosis, providers who don’t know me see this past history. They see lots of doctors and lots of conditions and lots of meds. And if they’re so inclined, they see that I am a crazy lady who doctor shops and vies for medical attention. They often don’t see these data inside of the complete narrative – that I am a victim of this system, not a perpetrator of it. That I went broke treating all of these diseases I never had because doctors told me I did and I was so desperate to feel well. That my assertive instruction is not condescending but educational. That I want to feel as well as possible and that I can help them achieve that goal.

I have almost as many privileges as you could possibly have as a rare disease patient. These things still happen to me. Consider how often they happen to people in less ideal situations.

Remember when you interact with people like me that we are sick. We are exhausted and desperate and afraid to lose any more than we already have.

We are not trying to alienate you. We are not trying to do your job. We just want one thing to be easy, even once.

Questions, emails, etc

Hi, everyone,

Just wanted to clarify a few things.

The link to contact me through the blog is not broken. I took it down. I have in the vicinity of 10,000 unanswered questions in my email.

I tried last year to speed up the process of answering questions by posting responses to common questions in public posts in a conversational format. This turned into me being accused of plagiarism so I don’t do that anymore. That means questions get answered one by one. I am currently responding to questions from February 2016.

I have been focusing on my own health for the last several months. That means questions, comments, etc, have had to go unanswered. I do not know if/when I will be able to return in the same capacity I used to operate at. I do not know if/when I will do consults again, if ever. This last year took a very serious toll on my body, my health and my life.

I am starting to improve enough to do research again and have posted as I have been able. I plan to continue this but it’s a much slower process than before.

I am not ignoring you. Every person who contacts me is very sick and needs help. I have to help myself first.

Thanks,

Lisa

The Cathedral of Belief

I have a GI bleed. This isn’t new or surprising, I have had bleeds off and on for years. But this is worse. Worse enough that I called to ask at what point I should go to the hospital. After some back and forth, we decided I could stay home as long as it wasn’t enough blood loss to significantly drop my BP or to alarm me personally. So home is where I am.

After approximately 4,679 phone calls and emails, a scope was scheduled for me for this week. Similarly, I have previously had 4,679 scopes. I am a frequent user of hyperbole but I honestly can no longer remember how many scopes I have had. I have had several flexible sigmoidoscopies, several full colonoscopies, a few proctoscopies, several endoscopies and the very rare and elusive colonoscopies via stoma. It’s like my own demented version of Pokemon Go except they don’t happen outside and I have to drink two bottles of what smells like lemon Pledge and I never wanted to catch them all and it’s all bullshit.

Despite the general terribleness of my GI tract, which is, as a general rule, quite terrible, things are improving. I’m not sleeping all day. I am getting back into a rhythm of sleeping at night. My cousin found me a protein shake mix that I can drink safely and which tastes good instead of the least bad. I’m not bruising everywhere and haven’t had blistering hives for a while. I have gained back a few pounds which is a good sign.

I also finally feel like I have my mind back. For me, it has never felt that my actions were what anchored me to my place in the world. It is my thoughts that ground me. We are never more wholly ourselves than when we are in the labyrinth of our own thoughts. We are what we think because what we think turns into what we believe.

Belief is a powerful thing. Maybe the most powerful. It is that ether that makes us more than our bodies and that holds us together when those bodies fail us. Believing strongly in a choice you make confers upon you the ability to make the most of that choice. The power of the words swirling around your mind cast a magic upon it that makes that path stronger and you stronger for being on it. It makes it easier to be grateful and to be happy.

I struggle a lot with my personal outlook and how I portray my life to others. Specifically, I struggle with being happy and what that means for me. I am happy, often. But there’s a guilt there, that I know my experience is sometimes dissected and applied to other rare disease patients for whom this may not be their reality. I don’t want people to think this life is easy just because I’m happy. And there’s an anger there too, that I shouldn’t be happy when I am frequently so sick and my friends are so sick or the existence of rare disease patients is so very precarious. There is a sharp side to this happiness.

What if I had chosen this life? What if I had somehow chosen to have these diseases and the broken elegance of this struggling body and everything else that came with it? Would believing in that choice have given me the strength to feel happy without this internal conflict?

I didn’t choose this life. But recognizing that it is still a good life is a choice, too. A powerful one. Maybe the most powerful.

Beta blockers and epinephrine

Beta blockers (often styled β-blockers) are medications used primarily for their impact on blood pressure and heart rhythm. Given their low cost and relative safety, beta blockers are very commonly prescribed for a number of other conditions as well, including anxiety. They work by blocking beta adrenergic receptors found throughout the body and specifically interfere with the action of norepinephrine and epinephrine.

The use of beta blockers in patients with risk of anaphylaxis requires some special consideration. This is because beta blockers directly block many of the places where epinephrine works to mitigate anaphylaxis. This means that using epinephrine to treat the anaphylaxis may be ineffective. This particular topic has been heavily researched and has not always yielded uniform findings.

The largest and most robust study included over 5000 patients with a history of systemic allergic reactions. This study found that patient use of beta blockers increased the risk of severe anaphylaxis. Use of ACE inhibitors, another drug class that impacts blood pressure, also increased the risk of severe anaphylaxis but to a smaller extent.

However, the risk of severe anaphylaxis was most increased in patients who took both beta blockers and ACE inhibitors together. Both beta blockers and ACE inhibitors were found to both decrease the threshold for mast cell activation and to prime mast cells (make them more easily activated).

Ongoing treatment with beta blockers has been found to be a risk factor for fatal anaphylaxis in some studies. It has also been found to be a risk factor for biphasic anaphylaxis, a type of anaphylaxis in which you have a second anaphylactic episode in the hours that follow successfully treated anaphylaxis.

Patients who must take beta blockers may be given a glucagon autoinjector for use prior to using injectable epinephrine. The reason for this is glucagon is the antidote to beta blocker overdose. When epinephrine binds to the beta receptor, it results in the cells making a molecule called cAMP. cAMP is a very important molecule for cells and it sends signals within the cell to regulate bodily processes. When a patient takes beta blockers, epinephrine can’t tell the cell to make cAMP. Glucagon is able to tell the cell to make cAMP even if the beta receptor is blocked. This action effectively counteracts the beta blocker.

Mast cell patients are usually recommended to use other medications to manage blood pressure and arrhythmias, including calcium channel blockers or renin inhibitors.

 

References:

Simons FER, et al. (2015) 2015 update of the evidence base: World Allergy Organization anaphylaxis guidelines. World Allergy Organization Journal, 8(32).

Nassiri M, et al. (2015) Ramipril and metoprolol intake aggravate human and murine anaphylaxis: evidence for direct mast cell priming. J Allergy Clin Immunol, 135: 491-499.

Shephard G. (2006) Treatment of poisoning caused by β-adrenergic and calcium-channel blockers. American Journal of Health-System Pharmacy, 63(19): 1828-1835.

Tole J, Lieberman P. (2007) Biphasic anaphylaxis: review of incidence, clinical predictors, and observation recommendations. Immunol Allergy Clin N Am, 27(2): 309-326.

Kolch UW, et al. (2016) Cardiovascular symptoms in patients with systemic mast cell activation disease. Translation Research, x: 1-10.

Reitter M, et al. (2014) Fatal anaphylaxis with neuromuscular blocking agents: a risk factor and management analysis. Allergy, 69: 954-959.

More; or, Yzzy’s story

I can understand most things if you can drop it into a living system. If a body can do it, I can imagine it. But there is this thing about the inner dynamics of the human organism: that the more you study it, the less obvious causality is. There is no one way to arrive at an end point. There are dozens.

The body is clever. It is redundant. It learns. If it wants to, the body will find a way.

Mast cell disease is largely a consequence of this fact. Every patient has encountered this. If you treat a symptom with a med, it will crop back up a few months later. If you arrest mast cell production, your body finds a way to circumvent it. If you get stable at a certain dosage, you eventually need higher doses to achieve the same effect.

I think about the intricacies of my body and my diseases almost constantly. Every time my body does some new mysterious and irritating thing, I run through the various possible causes. I try to determine which pathways I have blocked and which can still be used to injure me. The body is cunning. It has many tools at its disposal that can be weaponized toward a singular goal.

But there is a flip side to this ingenuity: we are more than just our bodies.

I first met Yssabelle Eddlemon when she was airlifted to Boston from Oklahoma right before Christmas a few years ago. I had spoken with her mother both online and on the phone prior to meeting her. Yzzy and I had a lot in common. We both had major colon involvement, frequent anaphylaxis, persistent anemia, ports, an ever dwindling list of safe foods, and a short supply of treatment options not yet tried. But she also had mastocytosis in her skin, major liver involvement, and such severe airborne reactions that she mostly lived wearing a mask. And she was five years old.

I became friends with Yzzy’s mother in the way that you do when your lives are miserable in similar ways. I became more involved in Yzzy’s care in the way that you do when you don’t want a kid’s life to be miserable in the same way yours is. I spent a lot of time reviewing her labs and pathology reports and learning about her. She became one of my little people.

She was seen by a ton of doctors, all of whom agreed she was very sick but didn’t know what to do about it. Her implanted port remained used for months after it was placed because no one wanted to be responsible for it. She was in and out of the hospital with anaphylaxis that closed her throat in seconds on a weekly basis. It was a struggle to keep her alive.

Eventually, Yzzy was able to get into a pediatric mast cell specialist in California. Things changed a lot, in a good way. Her meds were revised significantly. IV meds were prescribed to help manage anaphylaxis. The difficult decision to completely remove oral nutrition paid off.

After a few months on TPN (nutrition given completely by IV), she stabilized a lot. A scope done before starting TPN showed that she had confluent sheeting of mast cells in her colon – literally wall to wall mast cells in her colon tissue, so many that they couldn’t be counted. After a year on TPN, her colon biopsy was normal. For the first time, Yzzy was stable enough to go to school for half days while her mom stayed close by. She made friends and loved school. Her quality of life improved dramatically.

Then something happened that I did not expect: she started having these bizarre episodes of crazy high fever and hemolysis. The first few times, we thought it might be her central line so it was treated as an infection. But it kept happening and it became pretty obvious that this was not an infection. There are so many ways for the body to arrive at a sudden fever. No one could figure out the cause, including me. There were too many possibilities and not enough evidence to justify any one of them.

Patients with central lines are advised to go to the emergency department if their fever is over 100.5F. Yzzy’s fevers were sometimes over 105F. She would be brought in only to be sent home in the morning with no treatment and no explanation. She was also deteriorating in other ways. She had to stop going to school. Bizarre symptoms and bloodwork abnormalities piled up.

All said, she was brought into the ED 22 times over the span of several months before anyone figured out what was going on. Last fall, Yzzy was diagnosed with another rare blood disorder: hemophagocytic lymphohistiocytosis. Her immune system was eating her blood cells.

Things happened fast after she was diagnosed. She had suffered significant damage because HLH had been untreated for so long. They initially tried biologics and high dose steroids but the episodes continued. Then they started chemo. It was around this time that we started to grasp the eventuality of the situation. HLH can be fatal. Treatment was slowing it down but it wasn’t stopping the attacks enough to protect her life. She was going to need a transplant.

The weeks after the decision to proceed with transplant were tense and grim. She was frail and the chemo was making it worse. She lost all her hair. She swelled badly from the chemo and steroids. She had a recurring upper GI bleed. She was admitted most of the time. Managing both her systemic mastocytosis and HLH was complicated. Coordinating care across specialities was difficult and frustrating.

Yzzy had a rare stroke of good luck then, one so good that I actually cried: the search for bone marrow donors turned up three possibilities, two of them a perfect match. The transplant was scheduled for just after Christmas. She was discharged so she could spend some time at home before being admitted for several weeks for the transplant.

In early January, Yzzy underwent a brutal course of induction chemo. She developed major clotting issues and severe anemia. A second central line had been placed and was constantly problematic. She was miserable. But she made it through. And on January 12, she had the transplant.

Bone marrow transplants are dicey for the simplest patients. Yzzy is not simple. The risk for serious complications and death were significant. But it was the only option to manage her aggressive HLH. There was also a silver lining, a big one. If the transplant worked, it could cure not just the HLH, but her mast cell disease.

It is impossible to overstate how much we expected a disaster. But there wasn’t one. The transplant went perfectly. In under a week, we started seeing signs that her the transplant was making blood cells for her. In under a month, the transplant had engrafted and replaced her old bone marrow. She stopped having mast cell reactions. She was weaned off her continuous benadryl drip. She started taking oral meds instead of IV. She started trialing things for oral feeds. Her TPN infusion time was decreased. For the first time in years, she was not attached to an IV line 24 hours a day. And her HLH was long gone.

Yzzy has never known a life when her body wasn’t trying to kill her. She’s not old enough. Her body has damaged her organs, caused seizures, and repeatedly sent her into shock. For seven years, Yzzy’s body found ways to work around every treatment, every medication, every change that was made to keep her safe.

But we are more than our bodies. When her team discusses her care plan with her parents outside the door to her hospital room, she plays video games. When she isn’t strong enough to walk around, her parents drive her around to catch pokemon. When she is puking constantly, she plans the menu for a day when she can eat. This is her life and she just lives around it.

Yesterday, fifty days after her transplant, Yzzy went home. She joined a Girl Scout troop and is aggressively selling cookies online. She is making plans for her birthday party in May. She is happy to be home and reunited with her little brother. She is having Nerf gun fights. She is strong enough to run around and can laugh without risking anaphylaxis. This is the dream.

Yzzy is more than her body. And her body was no match for her.

The Unholiday; or, Rare Disease Day

I have multiple rare diseases. I have been living as a rare patient since January 2012 when I was initially diagnosed with mast cell disease. I have collected some other rare diseases for my menagerie in the years since: adrenal insufficiency; Ehlers Danlos Syndrome, hypermobility type; Postural Orthostatic Tachycardia Syndrome; and mixed connective tissue disease with features of lupus and rheumatoid arthritis.

February is Rare Disease Month and the last day of February is Rare Disease Day. MastAttack originated as a exercise in educating people about mast cell disease with daily facts for Rare Disease Month. Over time, I moved those facts from my Facebook page to a blog. That blog evolved into the MastAttack you are currently experiencing.

I have planned for the last few years to do a daily posts in February with each post discussing a different rare disease that affects some mast cell patients. The fact that I was only able to get up two posts (and not even on consecutive days) is a pretty good symbol for what it is like to be a rare disease patient.

Despite recognizing its importance, I feel conflicted about Rare Disease Month. It’s not the visibility that bothers me because I committed to living my life very loudly years ago to empower myself and others in the mast cell community. It’s the transience of the focus. In February, people are inundated with stories about living and dying with rare disease. But on March 1, I’m still going to be here, with these diseases, and friends with these diseases, and the fear and uncertainty that goes with them.

This is not a celebration. We are not celebrating rare disease or even rare disease patients. This is a protest. A march. An event to record that we were here. A memorial, to remember those rare disease patients we lost this past year and all the years before. And a prayer, a deep and primal hope given to the universe that there will someday be a world in which there is no need for a Rare Disease Day.

Thank you for reading our stories this month. Thank you for learning about our diseases and our lives.

Remember us after today. Remember us every day.

The silence and the void

I am struggling a lot with grief lately. As it has become increasingly apparent that my life and my body will never be the way they were before, I have thought a lot about what that means. How they are different. If I can live with it. I think few things cause as much personal revelation as grief. Every fear is amplified. Every dream is farther away.

I had such a firm idea of who I wanted to be. I knew exactly. I wanted to be a doctor and travel around the world. I wanted to get married and have kids. I wanted to treat infectious diseases. I wanted to live in twelve countries for a month each to live abroad for a year. I wanted to buy a little house and paint it purple. I wanted to have a home where every shelf was low enough that I could reach it without standing on something. I wanted to be happy. I wanted a quiet little life with a rewarding career and children. I knew the life I wanted. I loved that little life.

You do not naturally love the things that populate the set of your life. You do not love sitting on the couch. You do not love drinking water. You do not love walking your dog. You do not like to breathe. You do not love every moment when your throat isn’t swelling. The moment you begin to love these things marks a fundamental change. It happens when you glimpse a life beyond the veil, a life where you can’t take out your own trash or drive or clean your apartment. Everything you do is imbued with a frantic appreciation. You come to love these things but you wish you didn’t have to.

I really loved my life. It was beautiful. It was warm and full of possibility. I wasn’t grateful for breathing or waking up to an alarm clock because I didn’t have to be. I could never have imagined how bad things would get and how hard it would be to become a different person with different goals and different dreams.

It has taken me years to build a new life. Nothing beautiful is easily repaired. There is beauty still but it is deeper and less obvious. It is not the excitement for the future. It is not the having of things and opportunities. It is the rare moments when you aren’t struggling. When things are wrong but not more than usual. When the pain is managed. It is the kind of beauty you can only find when everything around you is burning. Beauty is nothing. It is a feeling. It is silence and a heartbreaking void where you can rest for a little while.

I am trialing a new biologic tomorrow in the hope that it will help me to eat again. I am scared that it won’t work. I am scared because I don’t think I can live like this. I am tired.

There is still beauty in my life. It is just harder to find it when every minute is a struggle.