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May 2014

On blind faith and believing things will get better

The very first person to recognize that I had a systemic disease was the doctor who performed my sinus surgery in 2008.  The previous June, I had gone on a three-week backpacking trip through Scandinavia and contracted a sinus infection I couldn’t shake.  In November, after several rounds of different antibiotics, I was referred to an ear, nose and throat specialist.  He took one look at my massively deviated septum (a casualty of my wild child teen years) and scheduled surgery to clean out my sinuses. 

He also advised that I contact an immunologist as soon as possible, as I was a 23-year-old in seemingly good health, yet had been unable to clear an infection for six months.  I set up an appointment and became an active player in a game I hadn’t yet realized I was playing.  The hunt for mast cell disease was on.
This doctor’s greatest asset was the longevity of his career and, owing to this, the fact that he had seen thousands of patients over the years.  “You remind me of this woman who used to be a patient of mine,” he told me during a follow-up appointment as he looked through the scope snaking into my sinuses.  “She looked so healthy, like you.  But something was wrong with her.”  He remembered the specifics of her case very clearly.  She had Hashimoto’s thyroiditis, like me.  She had hearing loss.  She had also required sinus surgery.  “She knew there was something affecting her whole body, but I didn’t know what it was.”  He had thought at the time that it might be an endocrine issue. 
This woman took on a mythical status in my imagination.  I hadn’t been convinced that what I had wasn’t just a collection of mild, treatable ailments.  But once I heard about this woman, I knew.  I knew that this wasn’t all a coincidence. 
I haven’t seen that doctor in years, but when I was diagnosed with mast cell disease, I called his office and left a message for him.  He called me back a few days later.  He remembered me and my collection of symptoms.  He was fascinated to learn that I had mast cell disease.  I asked about the woman, in case she had never received a diagnosis.  “Oh, she died some years ago,” he told me casually.  I was too afraid to ask how she died.  I don’t have any reason to think that it was from mast cell disease, or that she had even had it in the first place.  But the news that she had died, this woman I had never met, hit me strangely. 
There are so many tiny things that affect you when you have a disease like mine.  You feel an immediate kinship to anyone like you.  The emotion you feel can sometimes be disproportionate to the actual intensity of the relationships.  You take things personally.  You are acutely aware that you are different from everyone else.  You can’t freak out about the big things, so you freak out about the little ones instead.  You get very good at cataloguing the suffering.
But there is this other about being sick.  You see good in everything because some days you need all those little beacons of light to scatter the darkness.  Hope begins to feel like a religion.  Making plans, thinking things will improve, believing that you can still have the life you want – these things feel like acts of faith.  Every step that moves you forward is a prayer to the universe to let you have one more.  The act of staying alive feels sacred.  You have to believe it will get better.  There is no other way.
Many languages do not differentiate color in the same way that English does.  Several of them use the same word to refer to both blue and green.  I can only think of hope now as being brilliant against this dark horizon.  That’s how I feel when I plan my trip around the world, like I’m executing a divine will.   I don’t have any words for that, but when I close my eyes, the light it shines inside me is blinding.   

The doctor-patient relationship and the danger of self-advocating

I had an appointment with one of my immunologists yesterday.  I like this doctor.  We have an excellent relationship.  He has been with me through a lot.  When I met him several years ago, I didn’t know what I had but I knew my diagnosis was wrong.  He didn’t know what I had, but he believed I had something and was willing to try some unusual choices.  Some of them did nothing.  Some of them worked.  The ones that worked gave us information that ultimately led to me being diagnosed with mast cell disease.

At the same as I was being seen by this doctor, I was also being seen by a doctor, a rheumatologist.  This rheumatologist thought I had rheumatoid arthritis and did not think I had anything else wrong with me.  This rheumatologist went so far as to state that all my (anaphylaxis) attacks were due to anxiety.  He thought I was a hypochondriac.  He wasn’t alone.  I was seeing several specialists at the time, and all of them thought I was generating abnormal lab results by being upset about life.  All of them except this particular immunologist that I saw yesterday.
About two months before I was diagnosed with mast cell disease, I stopped believing that the disease was damaging my body worse than the many medications I was taking without a solid diagnosis.  I was tired.  I was mentally unable to fight anymore.  It is so hard to keep believing something is true when so many people who should be able to find it insist that there is nothing there.  I decided to discontinue all of my many medications in a last ditch effort to identify what I had.  Predictably, I anaphylaxed and went to the hospital to be monitored and tested for a few days.  But no one recognized it was anaphylaxis, so they didn’t find anything.  I gave up and went home.  I told my immunologist that I was done and I meant it.
Two weeks later, the week of Christmas, he called me.  He told me that there was one more person he wanted me to see.  I told him I didn’t want to see anyone else.  That I meant it when I said I was done.  He told me that he thought this person would know what I had, and that if nothing came of this one appointment, he would leave me alone.  And because he had believed me for so long when no one else did, I agreed to go. 
That appointment happened on a Tuesday four weeks later.  It is the appointment where I was diagnosed with mast cell disease.  I never saw that rheumatologist, or any of those other specialists, again. 

I was very lucky.  I was lucky that I didn’t die from anaphylaxis prior to diagnosis.  I was lucky that my family and friends (most of them) continued to believe me when it was unclear if I was right.  I was lucky that I had even one doctor who believed me.

This is not always true for people without diagnosis.  This is not always true for people with diagnosis.  There is a very real tendency by medical professionals to ignore or downplay things they do not understand.  There is a desire to always be the most informed person in the room.
I interact a lot with providers who don’t know very much about mast cell disease.  I explain a lot of things to them.  Some people are grateful for the knowledge.  My stoma nurse recently said to me, “I love you because I know you’ll tell me exactly what you need.”  Sometimes they appreciate my directness.  Sometimes they refuse simple requests for no reason other than the fact that I had the audacity to know about it when they did not.  No one likes to be told what to do, but for people like me, there isn’t always another option.  I can’t assume that they will eventually arrive at the appropriate conclusion when they don’t understand my disease.
Once they get mad, they are not interested in providing me the best care anymore.  They think I’m a know-it-all and they tolerate me at best.  “Smart people like to feel smart,” the floor intern told me during my recent admission, as explanation for why the resident was frustrated when I understood my symptoms better than she did.  “I’m smart, too,” I reminded her. 
I am not a medical doctor.  I was too sick to go to medical school.  Before I knew I had mast cell disease, I spent years researching various diseases that I thought I might have.   I have worked in medical research for thirteen years, worked in pharmacy for ten years, and have both undergraduate and graduate degrees in the biological sciences.  Additionally, I have direct access to mast cell fluent people through my job.  These experiences have taught me a lot about medicine, physiology and pharmacology.  If I sat the med school admission exam again, I would do well.
When I was diagnosed, I spent months doing nothing but learning mast cell biology.  I got books, read papers, emailed researchers, called doctors (some of whom even called me back.)  Even still, I read papers about mast cell disease and related topics on a daily basis.  I do not know everything, but when it comes to mast cells, I know this shit cold.  But that only helps me if my doctors see me as participating in my care and not making outrageous demands or insulting their intelligence.
Yesterday, my immunologist and I discussed whether or not I needed to go to the hospital after self-administering epinephrine.   I am anaphylaxing a lot these days.  I regularly lose four days of my week to intense pain and borderline anaphylaxis, in that “safe to not use epi if I drink Benadryl constantly, but very uncomfortable” stage.  He agreed that when that happens, I can give myself epinephrine and IV Benadryl at home and not go to the hospital if things stay stable.  This is a huge relief.  He knows that if I feel unsafe, I will go to the hospital.   He knows this because after years of seeing me, he understands that I can be trusted to make decisions like this for myself. 
Many people don’t have doctors like that.  It makes me so mad to see people talking about how their (non-mast cell aware) doctors won’t increase their antihistamines, prescribe mast stabilizers, learn about their disease.  It makes me so mad when my friends are told by specialists that they “don’t know about their disease,” as if they shouldn’t be expected to educate themselves beforehand.  It makes me so mad when doctors ascribe any problem you have to mast cell disease when we so frequently have comorbidities.  It makes me so mad that we have to argue for the things that keep us safe when getting tests, procedures or surgeries.  It endangers us and forces us to understand our disease in order to prevent injury, something that isn’t always possible. 
There is no remedy for this beyond education and a new paradigm in medicine that involves active patient participation.  I worry about my friends who don’t have a good relationship with their doctors.  It makes me extra grateful for people like my immunologist. 
Last night as I was drawing up my IV Benadryl, I literally thanked him out loud.  I am one of the lucky ones, and I know it.

Mast cells, eosinophils and the perfect storm of inflammation

Mast cells and eosinophils have a lot of common functions.  In allergic and inflammatory states, these cells come into physical contact with each other, as well as communicate using chemical signals called cytokines and chemokines.  Mast cells and eosinophils are often found together in affected tissues in disorders like allergic rhinitis, atopic dermatitis, and asthma.  Mast cells initiate the allergic inflammatory response once activated.  This signals for eosinophils to come to the tissue.  Increased numbers of mast cells and eosinophils are found in diseases like eosinophilic esophagitis, chronic gastritis, GI neoplasms, parasitic infections and IBD.  Both mast cells and eosinophils respond to eotaxins, molecules that draw eosinophils to the inflamed area.  So one signal causes both cell types to go to the affected tissue. 

Mast cells and eosinophils interact a lot by using chemicals.  Mast cell released heparin stabilizes eotaxins.  Mast cells produce IL-3 and IL-5, which lengthen the lives of eosinophils in tissue.  Mast cell mediator chymase suppresses eosinophil death and causes eosinophils to release several chemicals.   Tryptase can limit eosinophil activation.  In turn, eosinophils produce stem cell factor (SCF), which attract mast cells and protects them from cell death.  Both cell types express some common receptors, like Siglec-8, which induces eosinophil death and inhibits IgE-mediated mast cell activation.  Interactions between these cells increase activation and proliferation. 
Patients with SM may have another blood disorder, including CEL or hypereosinophilic syndrome (HES.)  SM-HES and SM-CEL with the D816V CKIT mutation has been found, and the mutation is present in both the mast cells and the eosinophils.  However, it is likely that the FIP1L1-PDGFRA fusion gene (an aberrant tyrosine kinase) is the cause of the coexistent eosinophilic and abnormal mast cell proliferations.  The FIP1L1-PDGFRA fusion has been found in several cell types, including neutrophils, monocytes and mast cells.  This finding is consistent with a mutational origin in a blood stem cell that makes mutated mast cells and overproduces eosinophils.  When these cells are not neoplastic, they are derived from separate stem cell lineages.
Shortly after the discovery of this fusion gene, there was significant debate over whether FIP1L1-PDGFRA+ disease was an eosinophilic neoplasm with increased mast cells or systemic mastocytosis with eosinophilia.  Patients with FIP1L1-PDGFRA+ eosinophilia have a lot of symptoms in common with SM: swollen spleen, hypercellular bone marrow, high numbers of abnormally shaped bone marrow cells, marrow fibrosis and elevated serum tryptase.  However, these bone marrows show less dense clusters of mast cells.  In some cases, mast cells were spindled and expressed CD2 or CD25.  Still, the WHO considers it a distinct entity and not a subset of SM.
In CKIT+ patients, GI symptoms, UP, thrombocytosis, serum tryptase value, and dense mast cell clusters aggregates in bone marrow are significantly increased.  Cardiac and pulmonary symptoms, eosinophilia, eosinophil to tryptase ratio, elevated serum B12 and male sex were higher in FIP1L1-PDGFRA+ group.
Eosinophilia in SM patients has no effect on prognosis.  Eosinophilia in MDS patients predicted significantly reduced survival.  In T lymphoblastic leukemia, eosinophilia was unfavorable for survival.  Density and activation of tissue eosinophils is related to disease progression in several neoplasms.  Mast cells and eosinophils are found in increased numbers in neoplastic disorders like Hodgkin lymphoma. 
Presence of FIP1L1-PGDFRA indicates treatment with imatinib (Gleevec), regardless of organ dysfunction.  It can show remission within 4 weeks, even at low doses.  Some patients with CKIT+ SM with HES or CEL have rapid and complete normalization of severe eosinophilia with midostaurin treatment. 

Gotlib, Jason, Akin, Cem.  2012.  Mast cells and eosinophils in mastocytosis, chronic eosinophilic leukemia, and non-clonal disorders.  Semin Hematol 49:128-137. 

On losing my hearing

I have this philosophy about my illness, that I’m not my illness and I’m not my body.  It keeps me sane a lot of the time.  It is easier to see it as something separate from me, an antagonist.  It is easier to not feel complicit in all this.

I started feeling that way when I lost my hearing.  I lost it in 2009, and never got it back.  I have no hearing in my left ear, some in my right ear.  The hearing in my right ear fluctuates.  I stopped seeking technological interventions when I was accused in 2011 of Munchausen’s by a specialist and referred to a psychiatrist.  The psychiatrist agreed I did not have Munchausen’s.  I never tried to get a hearing aid again. 
A few short weeks after the appointment with the psychiatrist, I was diagnosed with mast cell disease.  “We’re not sure why, but a lot of people with this disease have trouble with their hearing,” the doctor agreed kindly.  I cried when he told me.  It felt so final.  A tiny part of me had always hoped that once I was diagnosed, the treatment would give me back my hearing.  But it didn’t, and it won’t.  I am Deaf.  I will be Deaf for the rest of my life.
It is impossible to describe how it felt to lose my hearing.  It was like slowly bleeding with no way to stop it.  There was panic and anxiety.  I couldn’t focus on anything else.  And then eventually, it stopped.  I was damaged, and I moved on. 
The thing about your hearing is that you use it for everything.  I had never even noticed.  Very early on in my Deaf life, I looked both ways and stepped into the street.  A friend pulled me out of the way just before a car hit me.  I had seen the car, but because I couldn’t hear it, my brain told me it wasn’t moving.  It was a jarring realization that I used my hearing to keep me safe, and now it was gone.  The whole world felt different.  It felt alien.
Losing my hearing represents the first time in my life that I couldn’t make my body work through force of will.  In 2009, I was having joint pain, tiredness, fevers, rashes.  I had a few inaccurate diagnoses.  In spite of that, I could still make my body do whatever I wanted, even it hurt.  I could overcome the pain.  I could not will myself to hear. 
It was also the first time I had to demand accommodations.  I had to tell people to look at me when they spoke.  I had to get an earpiece to talk on the phone.  I had to request interpreters for medical appointments.  It was my introduction to self-advocating, and that has served me better in my adult life than any other quality.  I am not afraid to fight. 
I have adapted over the years to the point that I barely notice my Deafness.  I can hear on the phone if it is quiet; I sign well enough to use a video phone.  I watch the tv closed captioned, use a vibrating alarm clock and a lamp turns on in my living room when you ring my doorbell.  Learning to function as a late-deafened adult was hard but not impossible. 
In many ways, my hearing loss is hard to talk about.  It is still a wound, one that comes raw with too much touching.  The entire experience affected me and changed me in ways I could never have expected.  It was a loss I felt more acutely than anything else that has been taken from me.  It was the point of no return, after which I would never recover the health I had previously had.  My life is divided into two epochs: before and after I lost my hearing. 
But I owe a lot to my hearing loss, I think.  It forced me to learn another language, to become a part of a culture I had known nothing about.  I have made friends I would never have made otherwise.  I found out who in my life really cared about me.  It made me think differently about my health.  It made me realize that deafness was not a disability, but an attribute, a facet of who I am.  It made me realize that I could still have the same life I had before, if I wanted to work for it.
I recently went on high dose steroids to treat my mast cell disease.  It was a treatment I had been given for my hearing loss, one that worked, but was discontinued due to terrible side effects.  I woke up in the middle of the night a few months ago, and I heard a strange noise.  It was sort of a soft ticking, a sound I didn’t recognize.  I turned on the light and tried to locate the source.  I eventually realized it was the fan.  It had been so long since I had heard one that I had forgotten what it sounded like.  It was like being visited by an old friend.  My dosage decreased and this brief glimpse of my old life vanished.  The blades spun silently now. 
My life isn’t better or worse for being able to hear a fan.  It is a reminder of both my damaged body and the ways I have learned to live with it. 

In case of emergency

If you have mast cell disease, then your life has the possibility of being turned inside out in a matter of seconds.  The last time I anaphylaxed, I was sitting on my couch at home after a very pleasant day.  I had to call 911, use epi, and spend five days in the hospital because I kept anaphylaxing.  So with basically five minutes of notice, I had to leave my house for a week.

I am a strong advocate of having a “go bag” like pregnant women pack close to their due date.  That way you can grab it and take it with you.  If you’re not home, you can have someone go get it for you and it’s already packed.  That way you can be sure you have all the important things you need.

So what should your “go bag” have in it? This is what mine has:

Toiletries.  A lot of us are reactive so we need specific products.  I pack a toothbrush, toothpaste, face wash, body wash, deoderant, shampoo, lotion, Rocket Shower, hair brush, elastics, pins, tweezers, nail clippers, razor and razor blades, my spare glasses and my mouthguard. Rocket Shower is a spray that you spray onto your skin and then wipe off with a towel if you’re not able to shower.  It’s moisturizing and it makes you feel clean.

Clothes.  I always feel better in actual clothes.  I pack a couple of changes of pajama type clothes, like pajama pants, tank tops and a hoodie for when it gets chilly at night.  Tank tops are good because they give easy access for EKG/heart monitor leads as well as central/IV lines.  Make sure your sweater/hoodie is loose so it doesn’t compress the lines or the infusion pump will think it’s occluded and beep incessantly.  I find that zip up sweatshirts are better than pull overs because you get less things tangled. 

Medication.  I know this seems antithetical, but hospitals don’t always have the meds you take regularly.  This is particularly important for mast cell kids like me because we don’t always tolerate inactive ingredients in medications, so switching brands can be dangerous for us.  If you have over-the-counter meds that you take regularly, or meds that you know the hospital is unlikely to have, bring them with you.  Also, things like nasal sprays and inhalers are good to bring with you.  I bring ranitidine (my hospital stocks famotidine), fluticasone nasal spray and ketotifen. 

Chargers.  Because it’s 2014 and we can’t live without our phones.

Specialized medical supplies.  I have a colostomy, and products for ostomies are not really interchangeable.  I also have a PICC line.  Pack at least a week’s worth of supplies.  I pack them in a little black pack, which also has antiseptic wipes and adhesive remover wipes that are safe for me.  If the hospital has supplies that you can use, great.  If not, they’re going to use whatever they have, and that might not be safe for you.

Safe snacks.  If you get there at night, you’re not going to get food.  If you eat low histamine or have a lot of food triggers, you may not have a lot of options. Put a few nonperishable things in the bag.  (I have saltines and peanut butter.)

Head phones.  So you can watch movies or listen to your music on your phone or laptop.

Journal/notebook.  I write every day.  It’s also good to have on hand so you can take notes while talking to your doctors, or make notes about things you want to ask.

Book.  Hospitals are boring.  Bring some entertainment.

Paperwork.  This is important.  You should have a “greatest hits” sheet on you all the time.  Mine has my diagnoses and relevant procedures, indicates high risk for anaphylaxis, states emergency protocol for anaphylaxis/trauma, indicates central line, has an UP TO DATE medication list including IV meds, and has a list of emergency contacts as well as physicians to be contacted in case of emergency, with phone numbers.  I also always have the Mastocytosis Society Emergency Protocol on me.  At home, I keep copies of these two things on my fridge as well.

Epipens.  Bring your epipens.  Yes, they will almost certainly administer it to you at the hospital, but if you’re somewhere unfamiliar, with non-mast cell aware providers, it’s best to be safe.

Dog.  Bring your dog to keep you company.  This is Harry P.  I bring him in my backpack. 

And bring your purse/wallet so you have your ID, insurance cards and money.  I also bring my laptop and cord so I can work. 

Other things: 

You should have a health care proxy, and you should know where it is.  If you are regularly seen at a hospital, it should be on file there.  Your proxy should have a copy. 

If your condition is advanced, consider an advanced healthcare directive. 

Contact your local EMS provider and ask if you can stop by and teach them about mast cell disease.  My local ambulance company and fire department both have copies of my emergency protocol, so when they responded a couple of weeks ago, they knew exactly what to do.  Saves time and makes you feel safe.

You should have a medic alert bracelet.  If you anaphylax suddenly, you might not have time to tell someone what’s wrong. 

If you have involved responsibilities, like a special diet for a pet, write them down and file them somewhere. 

Write out a bill-pay schedule with typical amounts and note how they are paid (automatic withdrawal, check, etc.)  In the short term, this is not a big deal.  If you’re in a coma for a month, it’s crucial to not waking up to a disaster. 

If your health is deteriorating and you are single (like me), I strongly advocate having either a joint account with someone you trust, or having your account in trust for someone.  This allows them access to your account if anything happens to you.  This is for the same reason as the bill-pay schedule: it allows you to not emerge from a health crisis and transition to a huge mess. 

Have important papers organized and filed.  Make sure you tell people close to you where these things are.  This should include copies of your health care proxy, advanced directive, life insurance, disability policies, insurance paperwork, things like that.

I know this stuff is not fun to think about, but if you ever need it, you’ll be glad you did it, and if you don’t need it, it will make you feel better to be prepared. 

Mast cell disease in families

Three types of MCAD are currently known: systemic mastocytosis (SM); mast cell activation syndrome (MCAS); and mast cell leukemia (MCL).  SM and MCL are thought to be rare, while MCAS is now believed to be much more common, and possibly even the underlying cause of various clinical presentations (such as IBS and fibromyalgia.)  Very little is known about the heritability of these conditions , but many patients report that they have family members with similar symptoms. 

A study examining the familiality of MCAD found that 74% of patients interviewed had at least one first degree relative (parents, siblings, children) with systemic MCAD, regardless of MCAD subtype or gender.  The prevalence of systemic MCAD among first-degree relatives was 46%, while the prevalence in the control group is about 17%.  The prevalence of MCAD among first-degree relatives of patients with MCAS was 60%; with SM was 44%. 

MCAD subtype and severity of symptoms varied between family members.  Variable genetic alterations in CKIT were detected.  Activating CKIT mutations were found in 65% of patients, compared to 15% of the control group. The genetic mutations detected in the three families included mutations at position 816 of CKIT (D816G, D816V, S1A).  This finding is remarkable in that it disproves the longstanding belief that the somatic nature of KIT and related exon 17 mutations means that it cannot be inherited.  It also supports the belief that other mutations in genes that regulate mast cells could be contributing to these diseases.  Multiple mutations were sometimes found in the same patient, including those found in other genes (JAK2, TET2, DNMT3A, ASLX1, CBL, U2AF1, SRSF2, MS4A2). 

There was also no obvious relation between the CKIT mutations and clinical severity of MCAD.  Although familial occurrence due to shared environmental factors cannot be ruled out, it is likely that there is a significant genetic contribution to this phenomenon.  More females than males were affected.  The prevalence of MCAS was expected to be at least within the single-figure percentage range in the population (1-9%.) 

Systemic MCAD family histories include more systemic MCAD cases than would be expected when compared to the prevalence in the general population. This study advocates that the different subtypes of MCAD (MCAS and SM) should be more accurately regarded as varying types of the same disease rather than distinct diseases of mast cell dysfunction.


Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, No¨ then MM (2013) Familial Occurrence of Systemic Mast Cell Activation Disease. PLoS ONE 8(9):e76241. doi:10.1371/journal.pone.0076241

Not a war

People use battle terms when they talk about disease.  “Keep fighting!” they say.  They talk about health in terms of “winning” and “losing.”  They call my life a “battle.”  War makes it easier to be merciless.  You want to win at all costs.  War turns the enemy into a faceless horde, and the consequences of your actions aren’t important.   You can scorch the earth if you know that eventually this will end and life will spring forth from the ground again.  You can imagine a future in which the scars have been consumed by nature, this history swallowed whole and invisible to a new generation.

In the beginning, I thought like that, too.  My disease was my enemy.  My medications were weapons.  In learning more about my illness, I was arming myself for the future.  Sometimes I was advancing; others, retreating.  Every day I made tactical decisions in my fight to overcome these obstacles.  I was a soldier, drafted into a conflict I didn’t want to fight, but doing it nonetheless.
But this isn’t a war.  This is my body.  It tries to kill me, but it also allows me to walk at night, balance in Crow pose, drink coffee.  It is sick, and it is damaged, but it is the only body I’ll ever have.  There is no known instance of a person with no mast cells surviving.  They heal my wounds, thin my blood and protect me from infection.  It pains me to admit it, but I need my mast cells. 
It’s harder to envision this as a war when you know you will never win.  I will never be able to kill off all my mast cells; I have to live with this faceless horde.  I can only appease them and mitigate my damage.  When you think about this every day, it begins to change you.  You might still see your body as an adversary, but you grudgingly find ways to work together.  And not often, but sometimes, you find that by doing this there are things you can do that couldn’t before.  In some ways, you can learn to play your disease to get everything out of your body that you possibly can.
My disease has caused me to accept my body.  It is scarred and misshapen and swollen, but it is still here.  Looking in the mirror is like visiting a monument to the resistance.  We’re outmatched, but we try anyway.  Sometimes it is better to work with your enemy than to fight them on principle.  There is a kind of quiet honor in that. 
Some days it is still a battle.  But most of the time, it is just my life, living in this body, trying to work with it.

The memory of pain

“It’s so hard to forget pain, but it’s even harder to remember sweetness.  We have no scar to show for happiness.  We learn so little from peace.”  -Chuck Palahniuk, Diary
I’m a medical scientist.  At a conference a few years ago, one of the doctors was recounting a phenomenon we are all familiar with – the patient who swears that their current illness is the worst they have ever had.  It’s not, though.  “They just forget how bad it is,” he surmised.  They are lucky, these normal people.  They get sick a few times a year, so infrequently that the light of their health overwhelms those dark spots. 
I’m not like that, and I don’t think I ever have been.  I’m very grateful for my good days, but when I look back over the landscape for the last few years, that’s not what stands out.  I remember the happiness and enjoyment of those days, but not the physical feeling.  It’s hard to commit the sensation of “less” or “better” to memory; it is merely a fact I can regurgitate when my doctors ask me.  It evokes nothing in me physically. 
I remember pain more than anything else.  I feel like this says something about me as a person, but it’s true.  I spend a lot of time with my pain, after all; it changes and evolves, but never really leaves.  It started in my hands and feet, arthritis that I feel as soon as I open my eyes.  Then my other joints, stiff and sore with motion, throbbing when still.  My lower back, that feels like a seam along which my body will break when I bend.  My lower abdomen, my entire GI tract that burns and twists.  The throbbing in the long bone of my thigh, the twisting in my chest.  The bright red sunburn of anaphylaxis all over my skin.  I have become skilled at cataloguing it, at knowing what is normal and what is new. 
Whether I like it or not, I have learned a lot from my pain.  It has forced me to prioritize my life, to actively pursue the things I want and to eschew what I don’t.  It has forced me to really want things, or to forget about them.  My pain makes me tired and irritable; it guarantees I only spend time with those people who are deeply important to me.  I never do anything just for the sake of doing it.  And in many ways, that is a blessing.
It used to bother me when people talked about being grateful for their illnesses.  I’m not grateful for my illness.  I would rather not have it.  But I like my life, and I like who I am, and my disease is part of the shaping forces responsible.  I am more empathetic now, more organized.  I expect less of people and am let down less.  I deal with disappointment better.  I accept that I cannot do everything I want to.  I suppose I’m grateful for those things, even if I would rather have come to these realizations by another route. 
Sometimes I’ll have a couple good days in a row and I think to myself, maybe this is when it gets better.  Maybe this is when things start steadily improving.  Maybe this is when my pain subsides and I get back the life I had where I could stay out late and drink alcohol and run a 5K and do yoga every day. 
Realistically, that’s never going to happen.  I will never be healthier than I am now; there is too much damage.  But every once in a while it feels like a possibility, and it doesn’t erase the memory of the pain, but it does soften it, just a little.

Event zero

When I was 13 years old, my friends and I worked in an attraction haunted house.  I spent a lot of time running through the dark, foggy halls of an abandoned war fort, in costume, scaring people.  Eventually I slipped and hurt myself.  It felt like I had twisted something out of place in my right leg.  I didn’t know it then, but this was the beginning of an era that would consume a significant portion of my life.
I saw my PCP, then an orthopedist.  They both assumed the ileotibial band that sat atop my hip was weakened and that this had been injured in the fall.  I received some steroid and anesthetic injections into the muscle and was sent on my way. 
Over the following months, it became harder for me to walk.  I felt pins and needles in my legs, and the muscles felt tired and weak.  My doctors were unimpressed.  They gave me crutches and told me there was nothing seriously wrong.  This continued for six months until I sat down in school one day and was unable to stand up.  I could no longer feel my legs.
I was seen at the local, very famous pediatric facility.  No one knew what was wrong with me.  They didn’t order any tests.  The doctor pulled my mother aside and told her that they were holding a bed for me in the psychiatric unit.  Because I had conversion disorder, and was faking. 
I spent the next few days taking very high dose anti-inflammatories and laying around at home, unable to go anywhere.  After five days of this, I woke up in the middle of the night and got up to go to the bathroom.  I was halfway down the stairs when I realized I was walking.  The following Tuesday morning, I had an appointment with another orthopedist, who ordered an MRI. 
In my fall the previous October, I had fractured my L3 and L4 vertebrae.  The bones had crunched against each other and the resulting fragments had attracted fluid, which pressed on my spinal cord, functionally paralyzing me.  The high dose anti-inflammatories had alleviated some of the pressure of this fluid, restoring conduction and my ability to feel and use my legs. 
All of this makes perfect, medical sense when you have the whole story.  The fact that there is an explanation should make me feel validated.  It doesn’t.  No matter how hard I reassure myself that I will never again be a 14 year old with temporary paralysis, I cannot remember these things without fresh fear that I will be committed and shame that the doctors thought I was lying. 
This was my event zero.  Every person with a long term relationship with the medical establishment has one.  It is the first time that a medical professional wronged you in a serious way.  For me, it was the first time I was accused of lying about my health.  I will never forget it. 
Most people with rare diseases are accused of lying for years before they are diagnosed.  It is easier to accuse someone of faking than to acknowledge that you don’t know what is wrong with them.  I was accused of looking for attention, trying to make myself more interesting, both by medical professionals and people in my life.  I was accused of literally making myself sick, poisoning myself to skew my blood work.  I have been called a compulsive liar and a drug addict.  I have left appointments countless times crying and without the help I needed.  I have been literally shamed by doctors for faking while sick with a rare disease.
You don’t live with that for years and emerge without scars.  Every time I have an appointment, I go in with a secret. 
My secret is that I’m not a liar but I think that you think I am. 
My secret is that I will never not think that you think I am lying, because your profession has taught me that I am not worthy of your trust. 
My secret is that even if I trust you rationally, I still think you might tell me I am faking. 
My secret is that because of this, even though I have dozens of tests confirming my diagnosis, I sometimes wonder if it is all in my head.  But if I say this out loud, other people will believe it, too.
When you live in a chronically ill body, there is no mistaking that you are sick.  It is as plain to you as the color of your eyes.  Let’s say you have blue eyes.  Let’s say we live in a world where in order to get a driver’s license, you need someone to confirm the color of your eyes.  Let’s say you ask every doctor you see for several years what color your eyes are.  Some tell you brown, some tell you green, some say they might be blue in a certain light.  Some say you have no eyes at all.  Some say your eyes aren’t worthy of a color. Some say they don’t have time to tell you what color your eyes are.  But you know your eyes are blue, all the time, every day.  You know because you see them.  You know because they are your eyes.
But it doesn’t matter, because what you see doesn’t matter.  It only matters if they see it, too. 
This is called gaslighting, when people deny obvious things.  It makes you feel crazy. 
Our secret is that those of us with rare diseases are repeatedly traumatized in our pursuit of answers.  It is a trauma that is never treated and never acknowledged. 
Our secret is that many of us have PTSD from invasive procedures, from emergencies, from near death experiences.
Our secret is that we have been mentally abused, but everyone believes the perpetrators instead of us.
Our secret is that even if we know we aren’t, even if we have definitive proof of our illnesses, in the very bottom part of our souls, we feel like liars. 
You can never unfeel these things.  You can live around them, but they are always there.  They will always be part of us and how we see ourselves.  We can only ever be so empowered in getting treatment for our diseases.  We can only hide these fears so well.
There is a psychological burden that comes with being chronically ill.  It can be as crippling as our physical symptoms, and this part of it is created by the medical establishment. 


I had a whole life before I got sick.  I had jobs and relationships and friends.  And a temper and a bad attitude and a desire to always be right.  I was a complete person, with personality traits like everyone else. 
This hasn’t changed since I got sick, but I find that people tend to focus less on this.  They see me through the lens of my disease and they attribute all of my actions to the sickness.  It has surprising consequences.  The one that is most obvious is how strongly people in my life react when they perceive that I have been treated unfairly.  It feels more wrong to them that these things happened to me than if they happened to them.  The amount of anger they emote is sometime disproportionate to the offense, and even when they realize this, they cannot always control their response.  Feelings are complicated in that way. 
I find that they get the angriest about people who end their relationships with me.  In some ways, they feel the loss of this support as keenly as I do.  They love me.  They want to limit my suffering.
It is hard to be friends with someone who is chronically ill.  It can be time consuming and tiring.  It takes a lot of physical and emotional energy to support someone like me.  I’m sure it’s not always pleasant to drive me around after you’ve been working all day.  It’s also hard when you’re not able to get the favor paid back in kind – I am certainly in no position to come vacuum your floor, at least not anytime soon.  But more than these mundane things, being around the chronically ill reinforces our own fears about mortality, about the frailty of the human body.  It reminds us that we could all get sick and lose the things and people we care about.
We, the chronically ill, are afraid to lose the people we love because, statistically, we will.  Our partners will leave us, we will lose close friendships.  The stress of these events makes us sicker, but it is the emptiness, the guilt that we feel that is harder to cope with.  It’s hard to convince yourself that you’re not ruining everyone’s life when people you love and trust tell you that you are. 
I think a lot lately about the people who have cut ties with me.  It is sort of comforting to think that maybe it was because of my personality, because we just grew apart, but when I really dissect these situations, that is never what happened.   These people didn’t want to deal with me being sick.  Some started behaving callously, ignoring me when I was upset; others stopped returning my calls; others just outright got mad at me.  It’s easier to be mad at someone than stay with them while they deteriorate.  This isn’t for the faint of heart.
There is this recent concept in the American consciousness that you should never have to do anything that you find upsetting, that feeling anything bad is not your responsibility.  This is bullshit.  Sometimes you have to do things that are hard emotionally because they are the right thing to do.  You can’t just abandon people because it makes your life easier.  I’m not advocating total sacrifice here – self care is important.  But there is a balance to be struck in these situations, and I know there is because many in my life have done so.  The difference between them and those who leave is how important I am to them.  If I’m not worth the pain, it’s an easy choice.
You do not have to continue to be my friend because I am sick.  You do not have to continue to be my friend at all, if you don’t like me.  Someone said to me not so long ago, “I’m not a bad person because I can’t deal with your sickness.”  It doesn’t make you a bad person. 
But it does make you a bad friend, and I’m tired of pretending that’s not the case.  Be honest with yourself about your motivations.  We know when it’s about us as people and when it’s about our disease.  If you don’t want to be my friend anymore because I made out with your boyfriend and get embarrassingly drunk at your parties, that’s fine.  If you don’t want to be my friend anymore because I’m sick, that’s wrong.  This disease picked me.  It’s not a behavior or life choice that I made.  It is something that happened to me that I can’t control. 
It’s not fair to lose the people you love because you got sick.  And I’m tired of letting it happen gracefully.  The truth is that if you end your relationship with someone because of their disease, you are a coward.
I suppose things work out the way they’re supposed to, though.  Goddess knows I don’t have room for cowards in my life right now.