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June 2014

I’ll see you there

My Nana, my mother’s grandmother, died when I was five years old.  I remember my mother telling me that she had died.  I didn’t understand what that meant.  She told me that when the people we love die, their spirits stay close to us to protect us.  They become guardian angels.  I am grateful to my parents for many things, but one of the things that I most appreciate is the way they treated death.  It was never frightening or scary to me.  It was just a milestone, like marriage or retirement.  It was something everyone did. 

I liked this idea of their spirits being close.  I used to talk to Nana as if she was in the room with me.  I said good night to her when I went to bed.  I started first grade a few weeks after her wake.  I was very cool with the idea of her still being around in spirit, so I would draw pictures of myself doing regular things, except Nana was also there in her coffin, just keeping an eye on things.  It made me feel safe.
My first grade teacher was very creeped out about this.  She called me up to her desk and judged me with her wide eyes and unnecessarily slow speech.  I thought she was a fool.  Obviously her mother had not told her about how their spirits stay close to watch over us. 
My teacher told my principal, who called my mother in for a meeting.  They told her that they were worried about me because I thought Nana was watching me all the time.  My mother explained our family’s beliefs on that.  The teacher and principal were very concerned that I didn’t understand the difference between life and death, even though I had seen my Nana in her coffin.  They reiterated this concern repeatedly. 
“Look, my daughter realizes that my grandmother is not rolling around behind her in her coffin,” my mother told them.  She knew I understood what had happened.  Now she was the one judging.  I don’t know how the rest of the conversation went, but I’m sure it ended with my mother using some curt language and strategic eyebrow raising before leaving purposefully.  I get my righteous indignation from her.
My great-uncle and grandfather died a few years later.  I was fine with death by that point, but my sister was small and had been an infant when Nana died.  My mother read a book to her about a leaf named Freddie who learns about death when the leaves fall off the trees.  It was the first time a book made me cry.  When the winter came, Freddie fell off his branch and onto the ground with all his friends.  It seemed so peaceful.  It seemed quiet and like a relief. 
I told my sister about how the spirits stayed close.  We lay in bed together and talked to them.  We missed these people we loved but we didn’t think of death as something bad.   It wasn’t punitive.  It was just another part of life.  You left here and you went somewhere else.  And then your life continued, in this new place. 
My great-aunt was a therapist.  For my tenth birthday, she gave me a book called “Remember the Secret,” by Elisabeth Kubler-Ross.  It was about a girl who is friends with a boy who falls ill and dies.  But when he dies, they go dancing in the stars together and the little boy is not sick anymore.  It is not a sad book, not really.  I was so happy for the boy that he wasn’t suffering anymore.
I have seen a lot of death in my life.  I have literally watched someone take their last breath. I remember every person I have lost and I never fell out of the habit of talking to them.  I know that they are all close to me.  
I have knelt down and paid my final respects to people who died of old age after long happy lives, to those who died young of illness, to addicts who overdosed, to some who died by their own hand, to one whose heart suddenly stopped at the age of 13.  Some of these losses are harder than others.  Some of these losses are defining, in a before/after kind of way.  We had one of those in my family this weekend.   We lost someone young and my feelings are complicated and messy and it feels like my soul is an exposed nerve ending.  It feels like we will feel this loss forever.
I don’t know where you go when you die, and I won’t until it is my turn.  But I believe that we go somewhere, and that when you die, you are reunited with the people you love and you can all be together again forever. 
Every time I kneel down in front of a casket, I say the same thing: I don’t know where you’re going, but wherever it is, I will see you there. 
I’ll see you there.

Punk rock and fighting the establishment

I was never very good at conforming.  I was a weird kid.  I liked to read fantasy stories and comic books and was a geek before it was trendy.  I didn’t care very much about clothes or how I looked. Growing up, I had a few very close friends, and spent most of my time in school ignoring the people who teased me.  I didn’t fit in there and I never would. 
I first heard alternative music when I was 12 years old.  My older cousins were staying with us, and one of them was in a punk band.  I spent the summer between 7th and 8th grade listening to Nirvana, Alice in Chains and Pearl Jam.  This gateway drug led to the large scale consumption of metal, hardcore and punk and by 8th grade, I was wearing plaid skirts with ripped tights and combat boots. The music made me feel understood.   It was a role I had been waiting to assume my entire life.
I went to high school equipped with an arsenal of vulgar music and a bad attitude that carried me through college.  I went to countless shows in shady, filthy venues and listened to the Misfits with the volume up in the lab.  By the time I finished school, my hair had been black, purple, blue, pink and red, and I had accumulated a dozen piercings.  I wore punk rock like armor; it was easy to retreat into loud, angry music. 
Then I got older and I grew up and sold out in the way we all do.  I had various jobs and wore business clothes, went to conferences and dropped my (very thick, Irish working class) Boston accent.  I signed leases and bought a car.  I did charity work.  And I got sick.
Being sick makes you vulnerable in this long-term, uncomfortable way that I can’t compare to anything else.  It makes your world unstable and therefore you are unstable in the world.  It’s hard to be prepared when you don’t know what’s going to happen.  And when it happens fast, it’s even worse.
I was feeling pretty incapable the day that I was told I would never get my hearing back.  The person who told me was a well-known doctor at a world famous hospital.  He was an excellent researcher and had an awful bedside manner.  Without even looking up, he told me that I should learn to sign.  When I got upset, he shushed me.  (Pro-tip: Don’t ever shush me.)  He told me that he had patients with Meniere’s disease who couldn’t stand up without falling down and who would gladly be deaf in exchange for equilibrium.  He told me that there were patients in the hospital with cancer who were losing their hair.  Then he told me that I should be grateful that it wasn’t worse.
That was when I felt it.  It was the same feeling I got when I was 12 years old and first heard the Ramones.  Punk rock.  I was tired of doctors walking all over me and I was tired of crying.  And this doctor was going to be sorry.
I stood up and didn’t move for a solid twenty seconds.   I wasn’t sure what I was going to do.  The doctor turned and looked at me.  I walked past him, shut the door and sat back down.
“You don’t know me.  You don’t know anything about me.  And you don’t know anything about my life.”  This swell of anger at the establishment was rising inside me.  “You think I should be grateful for going deaf?  You think I should just get in line behind all those sicker people because since my hearing loss isn’t as bad as cancer, you don’t give a shit?  I don’t fucking think so.  If you think this is an acceptable way to treat people, then I’m sure you won’t mind defending yourself to the head of your department and Chief of Medicine, because I am writing a letter and you had better fucking believe they are getting copies.  I’ll call and make an appointment with someone who gives a shit that I’m losing my hearing.  I don’t ever want to see you again.  If you see me, don’t talk to me.  You fucking suck.”  I stormed out, in that really satisfying way where you can hear your own soundtrack blaring in your head.
I wrote my letters and got a few very frantic phone calls from the hospital.  They scheduled me appointments with other specialists and assured me I would never have to see this asshat again.  And I never did.
The next few years were exhausting and frustrating and sad, and maybe I was belligerent, but I wasn’t a doormat.  I wasn’t afraid of them anymore.  I got my punk rock back. 
There are some days when I think that my illness has defined me more than anything else.  But if you look closely, that’s not true.  More than anything else, more than a loyal friend, more than a know-it-all, more than a scientist, I am a punk.  I was born with a problem with authority and I’m not afraid of a fight.  Every cell in my body lives for rebellion.  It is the heavy bass undercurrent of my every action.  Every time I argue with a doctor or refuse to accept substandard care, Black Flag is playing in my head.  I have punk rock in my soul, and more than anything else, it armed me for this ongoing struggle.  It saves me over and over.
Last fall, when I started getting much sicker much faster and I wasn’t really feeling up to the challenge, I called an old friend and she dyed my hair bright red for me.  I went home and put on my Operation Ivy shirt and blasted the Pogues and Bikini Kill.  And I felt braver and ballsier and ready to not take shit from anybody.
And what’s more punk than refusing to let mast cell disease ruin my life?  Pretty much nothing.  That’s what.

Gene expression and the D816V mutation

What exactly is the D816V mutation and why does it matter?  To answer that, we need to understand the basic pathway by which a cell expresses a gene.    

DNA (deoxyribonucleic acid) is the molecule that contains the genetic code for all known living organisms and some viruses.  DNA is composed of two strands that wrap around each other in a double helix pattern.  DNA is built out of nucleotides, molecules that contain energy.  The nucleotides that build DNA are adenine (A), guanine (G), thymine (T) and cytosine (C).  These nucleotides bond in specific pairs.  This means that when one nucleotide in on one strand of DNA, there is a specific nucleotide on the other strand.  A and T, and C and G specifically bond to each other.  They are known as base pairs.  DNA strands made up of base pairs are said to be “complementary.” 

RNA (ribonucleic acid) is a more versatile nucleic acid that codes, regulates and expresses genes, amongst other things.  It also has base pairs: adenine and uracil (U), and thymine and cytosine.  These nucleotides can be complementary to DNA nucleotides.  For example, an RNA adenine is complementary to a DNA thymine, and so on.

DNA replication is the process by which an exact copy of a piece of DNA is made.  This happens when a cell divides.  In replication, the DNA double helix “unzips,” or splits apart into two strands, the base pairs of which are not connected.  Special enzymes move along each of the two split strands and place the appropriate nucleotides next to each strand to form base pairs.  The end result of this is two double helices of DNA that are exact copies.   

Some parts of DNA, called genes, tell the cell how to make proteins or RNA that has a specific function.  (Sometimes RNA can also do this.)  Genes tell the cell how to build and maintain the cell and allow it pass on traits to offspring.  These proteins or RNA are made by expressing the gene.  In gene expression, the information from the gene is turned into a “gene product,” that will be made into something useful for the cell.
Transcription is the start of gene expression.  Gene expression is very complicated and controlled by many mechanisms.  Having a gene does not mean it will always be expressed.  In transcription, a piece of DNA is copied into a complementary RNA strand.   This RNA is called messenger RNA (mRNA.)  This is a complicated process with several steps.  Once a gene is translated, the mRNA with the gene code goes to the ribosome, a place in the cell that makes proteins.  Proteins are made of amino acids. 

So how exactly does the DNA code for the protein the ribosome will make? Let’s focus on that.
The ribosome reads the messenger RNA made from the DNA gene three nucleotides at a time. Again, when using the code to build a protein, the ribosome reads the code in blocks of three nucleotides. These blocks of three nucleotides are called “codons.” Every combination of three-nucleotides tells the ribosome to add a specific amino acid to the protein. The majority of genes are encoded using this same codon code. So by knowing the DNA sequence, we can anticipate the amino acids that build the protein encoded by the gene. 


How does the ribosome know where to start?  There’s a start codon.  (And some other things also.)
How does the ribosome know where to stop?  There’s a stop codon.  (And some other things also.)
There are several types of genetic mutations, or alterations of the code from the one seen in most of the population.  In a point mutation, a single nucleotide is changed.  The D816V mutation is a point mutation. 
We use a specific nomenclature to describe genetic mutations.  Amino acids are often referred to with single letter codes for the sake of brevity.  The amino acid aspartic acid is referred to as “D,” while the amino acid for valine is referred to as “V.”  In the CKIT gene, the amino acid sequence Asp-Phe-Gly (aspartic acid – phenylalanine – glycine) is very important to the receptor being shaped the right way. 
Aspartic acid is encoded by the RNA code “GAU” or “GAC.”  In cells with the D816V mutation, this sequence is changed to “GUU” or “GUC.”  The second base is changed from an A to a U.  Doing this changes the amino acid encoded from aspartic acid (D) to valine (V).  These amino acids are shaped differently, and because of this, the receptor is shaped differently and behaves differently.  When the receptor is made with the amino acid aspartic acid in that place, SCF (stem cell factor) binds to the receptor and activates the cell, telling it not to die and to make more cells.  When the receptor is made with the amino acid valine in that place, the receptor activates itself and SCF is not needed.  It basically tells itself not to die and to make more cells repeatedly. 
So the term “D816V” means that at codon 816, the code was altered in a way that changed the amino acid for aspartic acid to valine.  Some people with mast cell disease don’t have the D816V mutation, but often they have another mutation at codon 816, like D816G.  Sometimes they have a mutation somewhere else in the same “exon.”  An exon is the part of the code that is sent as RNA to be made into a gene product.  The location of the CKIT gene is referred to as exon 17.  

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I have seen several mental health professionals over the years.  In 2011, I was trying to break in a new therapist.  The first few appointments always go the same and are always exhausting.

“Have you suffered any life-changing losses?” she asked, voice neutral, note pad on her lap.  I listed the people close to me that had died up to that point in my life.  She made some notes. 
Later on, I mentioned that I was comfortable conversing in both English and ASL.  She asked how I learned to sign and I told her that I had lost most of my hearing.  “Oh, that is definitely a life-changing loss,” she remarked, flipping back a page to list it in the appropriate section.  “You can grieve the loss of health or a sense the same way you can a person.”  I had never realized that before, but of course she was right.  You can grieve any loss.
Grief is, for me, the hardest part of being sick.  It is also the aspect I find people are least likely to understand.  Our experience with grief is largely confined to the death of a person.  This grief can be huge, all consuming, but in many instances, fades over time.  Not always, but often, it is easier to remember a person without pain as time passes.  Even this familiar type of grief is uncomfortable for many to watch. 
Grief because of illness is completely different.  It is a distinct entity.  You don’t grieve because you are sick.  You grieve because of all the things you have lost, friends, jobs, opportunities.  You grieve because the life you wanted, and all the things you wanted to do, became impossibilities as you watched.  I talk a good game about my life.  I like my life.  I really do.  But there are things I wanted that I will never have because of my illness.  It’s an unpopular thing to say, but it’s the truth.  I will never have the life I would have if I hadn’t gotten sick.
The thing about this grief is that it cycles.  It’s not always present, and when it will return is not always predictable.  You can never deal with it enough that it goes away forever.  I go weeks, even months sometimes, without mourning the loss of the life I thought I would have.  But something will happen, often something very minor, and this darkness will bloom inside me, spreading further with every beat of my heart. 
I have been journaling for most of my life.  I reread them every so often, just grab a bunch of them and read them in bed.  It used to be soothing.  It’s harder now.  I was so intensely hopeful, so sure that I could do everything, have everything, be everything, that I sometimes have to stop.  Reading these pre-diagnosis passages is like looking directly at a solar eclipse – you know it will be swallowed up in darkness soon, and it hurts too much to watch. 
It gets easier as time goes on.  It happens less frequently, but still, it is.  My grief follows me, a sort of shadow self.  Even when the sun is overhead and you can’t see it, it is still there, waiting.  The sun can hide it, but it can’t make it a memory. 

We all have shadows, after all. 

Myers-Briggs Testing; or, the day I told my coworkers I was sick

Last fall, I took a Myers-Briggs workshop for work.  This event determined our Myers-Briggs Type ahead of time and then used several exercises to explain how we perceive the world and make decisions, compared with how our coworkers did so.  It classifies you are being one or the other in each of four pairs of preferences: extraversion vs introversion; sensing vs intuition; thinking vs feeling; judging vs perception. 

On the morning of the training, the woman leading the course handed out thick reports to each of us.  It revealed our results in explicit detail, and was unbelievably accurate.  My result was one of the most uncommon types, ENFJ.  I am extraverted, intuitive, feeling and judging. 
The ENFJ person is sometimes called “The Giver” in Myers-Briggs literature.  They address things primarily by how they feel about them.  More than any other type, they have excellent interpersonal skills, usually knowing the right thing to say in most situations.  They are empathetic, understanding and caring.  They are very honest and forthright.  They are especially good at developing talents in others, and do well in positions where they can lead and inspire.  Their main interests are giving love, support, and encouraging others.  They like to make things happen for people.  They are extremely organized, planning out everything in their lives well ahead of time.  They have a strong need for close relationships and will expend significant energy maintaining them.  They are very loyal and trustworthy. 
Because they are so good at handling people, ENFJs can be good manipulators, able to elicit desired reactions with ease.  Their motives are not usually selfish, but they can easily get under the skin of other people.  ENFJs tend to judge themselves harshly and to have deep, upsetting thoughts when alone, and to place others’ needs above their own.  ENFJs have strong values and opinions, but are likely to let go of a strongly-held view if doing so would serve another person’s needs.  ENFJs are not good at impersonal reasoning. 

We broke up into groups of similar attribute (all extroverts, all intuitives, etc.) to demonstrate the differences in how we address situations.  When we broke up in groups of thinking vs feeling, there were only two feeling people out of twenty.  We were given a scenario in which we had to cut some people from a planned trip, and asked to explain how we would determine who would be cut.  The thinking group had a very clear, logical decision tree.  We, the feeling people, also had a decision tree, but it was clearly based on helping people the most.  The thinking group wanted to send the most qualified people, who would best represent the company. We wanted to send the people who had never been, who would appreciate it the most, who might never get to go again. 

The reaction we got to this was largely incredulous.  Some people obviously felt this was a poor use of theoretical company money.  This exercise was very upsetting to me.  It upset me because my life often forces me to appeal heavily to this empathetic side of people.  It upset me because so often in previous situations, I had been refused opportunities because I was sick, and it didn’t make sense to give responsibilities to someone who was sick.  It upset me to realize that so few people thought that it was worth it to give a chance to someone because it would mean a lot to them. 
This specific exercise was the subject of a lengthy discussion at the end of the class.  One of my coworkers, a man I like and respect, was very curious as to why we felt the way we did.  We went around the table discussing our feelings, me feeling unsettled the entire time.  When it was my turn, I weighed my options and decided it was time to lay it all out on the table.  There’s never a good time to “come out” as a sick kid, and it seemed like it was time. 
“I have a rare, life-threatening blood disorder,” I said quietly.  A couple of the people present knew, but I had started having new, more severe symptoms.  I wouldn’t be able to hide it much longer.  I felt the flush rising on my chest but there was no going back.  “I know I don’t look like it, but I’m very sick.” I tried to choose my words carefully, both for clarity and for maximum effect.  “I think that it is a privilege to give people opportunities based upon the fact that it will mean a lot to them.  It costs you nothing to be nice to people.  Good will means a lot to people who are struggling.  And maybe for you, this is just a job.  But for me, it’s probably the last job I’ll ever have.  So I’ll remember kindnesses like that for the rest of my life.”
The instructor had mentioned earlier that people rarely change their Myers-Briggs type without a major life trauma.  This wasn’t my first Myers-Briggs test.  I had previously been ENFP, more spontaneous and adventure-seeking.  Every chronically ill person reading this knows that those behaviors become memories once you are diagnosed.
“I used to be an ENFP person, but then I got sick.  And now I have a plan and several back up plans for everything.  Someone mentioned earlier that it’s impractical to be a judging person, because you can’t plan everything.  I am prepared for everything, because I have to be.  I have to plan everything because it is the only way to keep myself safe.  If you don’t plan everything, probably nothing terrible will happen.  If I don’t plan everything, it could kill me.”   The room was silent.  Some of my coworkers looked stricken.  Some were crying.  “So when we talk about this stuff and how we make decisions, remember that these things aren’t abstract.  Every decision you make has the power to affect someone positively or negatively.  It’s your choice.  I just think it’s the better choice to always be positive, if you can be.”
This was the very first time I had decided to use the power of my story to positively impact the way someone viewed the world.  It was both empowering and terrifying.  Several of my coworkers came up to me afterward to hug me or tell me they were sorry I was sick.  A lot of them asked about my disease and I told them.  They cared about me and accepted me. 

Being around someone who is chronically ill often brings out the best, or the worst, in people.  It is rarely neutral.  One of the privileges I have in life is to work with people who have shown me an incredible amount of compassion and understanding.  “The other day I sent my friend flowers for no reason,” one of my friends told me a few weeks after the training.  “I thought about your ENFJ speech.” 

It made me smile.  They matter so much, these little things.

Broken heart

Emotional stress is my biggest trigger.  Not emergencies, mind you – I am good at reacting, administering, directing in an emergency.  I mean the type of emotional stress that can only come when someone who loves you wrongs you.  I can deal with people I care about minimally treating me poorly without risking anaphylaxis.  But when it’s someone very close to me, someone whom I love deeply, it is very dangerous to my health.

I got a colostomy in April of 2013.  My doctor expected that to resolve the majority of my systemic symptoms, as the long term bleeding and physical stress that necessitated the surgery were also triggering my mast cells.  His aftercare instructions were very clear: don’t lift anything heavy, eat a low residue diet, do not go anywhere strange, stay out of pain and do not get upset.  If I could do all these things, he expected my mast cell symptoms to subside considerably. 
I had five weeks of no mast cell activation.  I lost my swollen, pregnant midsection.  The act of sitting, walking, existing, was no longer inherently painful.  I had energy.  I was getting better. 
Six weeks after the surgery, my ex-boyfriend left me abruptly almost four years into our relationship.  We tried to work it out.  I think it might have been alright, but then we found out we had to move.  
We had moved into this apartment a year and a half earlier.  I was clear when we looked at the apartment that I didn’t want to move until I bought a house.  Moving is dangerous for me.  New apartments, with the possibility of hidden mold and environmental triggers, are dangerous for me.  I have true IgE allergies to several environmental allergens and exposure to any one of them can cause anaphylaxis. 
Our landlord knew this and reassured us repeatedly that we didn’t need a long term lease because he would never make us leave.  He lied.  When he told us we had to leave, I completely broke down.  “This could take years off my life,” I sobbed, dignity lost.  “I feel bad about that,” he muttered.  We were excellent tenants, he agreed, he just wanted his daughter to live there instead.  He didn’t care.  They never do.
The next day, I got a bowel obstruction.  The mast cell symptoms returned in force, all at once.  “I told you not to get upset,” my doctor said, as if I could possibly control any of this.  But I understood his point.  When you have mast cell disease, the ones you love can truly be your undoing. 

I ended my relationship for good in February.  I would rather be alone than be with someone who handles my illness so poorly, though this is no comfort when there is no one moving against me at night.  I wanted to stay, but I could no longer ignore the fact that the stress of trying to fix this had taken a very serious physical toll on me.  It wasn’t worth my life.  And my heart was already broken, anyway.

I have been through a lot, all things considered.  It has made me stronger, all of it, even the things I wish hadn’t happened.  Every time I am grateful for my steel will, for my ability to make hard decisions without hesitation, for my ability to not get upset every time my body fails me in a new way, I have to admit that it was the hard times that made me this way.  I can’t imagine surviving any other way.  But the wounds – those are real, too.
There are nights when I can’t sleep and start sobbing uncontrollably.  I press my hands against my chest, against the hardness of my sorrow.  I run my fingers along the edge and it is shaped like a broken heart.  It feels like being half awake and reaching for him, before I know where I am and that he will never be there again.  There is no physical pain on earth that can compare to the memory of a love that is no longer real.
My mother used to have a seashell in her bathroom.  When I was little, she would hold it up to my ear and I could hear the ocean.  I feel sorry for that shell now.  It remembers the sound of the waves but can never go back.  I know what that’s like.
They say you can’t die of a broken heart.  Maybe they’re right.  But years from now, when they open me up to see what happened, they’ll find glittering shards in my chest and know that they cut me every time I breathed.