Sunday, October 25, 2015

The Missing Piece

I have always wondered what the moment would be like.

When after years of unanswered questions, false hope, and dead-ends, I’d have a definitive diagnosis.

I wondered what emotion I would feel first.

Relief?
Joy?
Confusion?

Probably a little bit of everything, I guess. 
Most of all, I knew it wouldn’t be easy. 
If the diagnosis was going to be easy, it would have happened years, volumes of blood, and 23860948 different medical institutions ago.

What I didn’t know, is if I’d ever have that moment.

In all of the years and tests and evolving diagnoses and hail-mary treatments, there is only one thing that never changed. 
I have never wavered in my belief that my medical obstacles had a cause. 
Ever. 
Not once.
I have wavered in many things, but not the proverbial connection of my dots.

I don’t believe our bodies break, in the way that mine has, for no reason. 
I don’t believe that my 27 separate diagnoses are not connected.
I never have.
And I’ve been waiting. And learning. And researching. And waiting some more, to connect the dots.

I knew there was a good possibility I would wait for the rest of my life. A nearly complete puzzle just missing that very last piece.

(Even after you've looked under the bed, between the sofa cushions, and even in the trash.)

But, an appointment in April changed everything.

Approximately 37 seconds after meeting my new immunologist, he referred me for whole exome sequencing. I had asked for this testing many times over the last few years, but the medical consensus was that it wasn't warranted. This doctor, however, shared my curiosity, and even more fortunately, he happens to be married to the president and head physician of the Rare Disease Clinic.

A few weeks later, I parted ways with 25 vials of my blood, and had the most bizarre physical of my life. In a genetic evaluation, you are scrutinized on a whole new level - every limb was measured,  every single freckle and mole had to be counted, and every single appendage had to be examined, down to the size and shape of my nostrils.

(Shaped like a bean...ya know, just in case you were wondering.)

They watch you move.
They watch you talk.
And then you wait. 
Genetic testing is most certainly an ultra-marathon, not a sprint.

I didn’t blog about this process, but not because I didn’t want to. 

(Trust me, when your doctor is 5 feet tall and has to measure your height and wingspan while you are 6 feet tall and completely stark naked, there is a LOT of blog-worthy material.)

I didn’t blog because I just couldn’t. 
As much as I told myself not to get my hopes up, I’m human. 
The thought of having to come back empty-handed again was just too much to swallow.

Then, a few weeks ago, I got the call to come in for results disclosure. After unsuccessfully offering to be there in 5 minutes with cookies, wine, and possibly a pony, I weaseled my way into finding out over the phone that they had found something. (Weaseling possibly exacerbated by the fact that they called me…and THEN told me that the doctor was away for 3 weeks. You're kidding me, right?)

Three weeks later, it was everything and nothing like I had imagined. I sat on the couch, long legs tightly crossed and knocking into my husband's equally long limbs. I had my moose notebook out, and was anxiously playing with my purple pen. The doctor sat across from me, stack of papers in her hand. The genetic counselor sat at the table with my 8-inch thick file.

I had pictured all of this. I had expected it. 

What I hadn't expected, were the words that followed. 

The words that at first computed as sentences quickly faded to a blur, as I scrambled to keep up.

Untreatable.
Progressive.
Never been seen before.

It comes as no surprise that my diagnosis is rare…but I never imagined it would be quite this rare.

I have not one, but two, likely spontaneous genetic mutations that have never been seen before.

In 7.3 billion people, there is literally only one of me.
(Or at least, of the population with access to genetic testing, anyway).

Both are progressive. Both are untreatable. Both are adult-onset disorders that appear in the 3rd decade.
Over-achiever that I am, mine showed up a bit early. Gold star for me?

The first mutation is a type of channelopothy. You may recall from high school chemistry, the experiment where you placed salt in water and then were able to conduct electricity. In our bodies, sodium and several other electrolytes are responsible for the the voltage that stimulates cells to perform their function. One type of my sodium channels does not conduct a current. Essentially, all of the parts are there, but the cord isn’t plugged in. This genetic mutation explains, among other things, the dysfunction of my autonomic nervous system - everything in your body that is supposed to happen automatically (heart rate, digestion, blood pressure, temperature regulation, etc.) Voltage-gated sodium channels are responsible for the rising of action in cells. If the voltage doesn’t occur, neither does the action. 

The second mutation affects my muscles. Fibrillin and Actin are proteins in our bodies that are supposed to bind to one another to maintain the structure of the cell, and further the process of myogenesis (the creation of new muscle tissue). My Fibrillin does not function as it should, causing myofibrillar and/or distal myopathy - aka my muscle fibers look all kinds of funky and are weakening. Over time, my muscles will become weaker and weaker, likely including my heart and lungs.

On the plus side, now that I'm a mutant, I have a built-in Halloween costume for life. 

To say that this is a lot to digest, may be the understatement of the century (especially given that I don't actually digest anything...)
For many days, I walked around in a blur, simply getting myself to the next thing on my calendar. I went through the motions of daily life, finding myself staring into space at my desk with no recollection as to why I was there.

I tried to wrap my head around what this truly means for my future. My dreams. My husband, and my family.

Perhaps the most bizarre of all is the lack of actionable steps. I have always been a well-researched patient, diving head first into each new obstacle until I understood it enough to explain it myself. In this case, there is nothing to research. All I can do is learn how the genes are supposed to function and work backwards. I share one mutation with a person in France, but nobody has the other one and nobody has both. An orphan disease is defined as fewer than 200,000 reported cases. In this situation, it's a party of one. 

(Now accepting submissions for the official "Name My Mutations" contest.)

I had told myself that I wouldn’t write a blog post until I could breathe deep, fully embrace my latest new normal, and move forward.
So for the past 9 days, I continued on with the motions of life, staying quiet and doing my best to appear normal.
But, I soon realized, that was an awfully lonely place to be.

There is no doubt in my mind that I will be fine. After all, I have made defying odds a pastime of mine, and I have quite a lot for which I'm extremely grateful. I intend to embrace this beautifully unexpected life that lies before me - and what a glorious, front-seat-of-the-rollercoaster adventure it will be.

Someday soon I will realize that I’m okay. 

Just maybe not today. 

And perhaps the biggest challenge of all, is accepting that this is okay. My muscles and vision of my future may be weak, but it does not make me weak.
It’s okay that I’m not feeling like myself right now.
It’s okay that I cycle through every emotion imaginable in a 5 minute period.
It's okay. 

Today. 
Right here. 
I'm right where I need to be, and tomorrow, I'll try again. 

After all, sometimes even rare robotic mutants need a break. 

Wednesday, October 7, 2015

She Used to Be Mine

I had almost finished a post when I heard the song. 

My musical idol, Sara Bareilles, recently composed a new musical, "Waitress," (think stage adaptation of the movie with Keri Russell) and the first single from the musical was just released. 

"She Used to Be Mine” stopped the air in my lungs.

I listened, twice.
Then one more time.
Then, without another thought, I selected all, and hit delete.

I had been trying to write about Septembers. To explain my absence from writing, and how my heart triples in weight every year. I’ve been trying to write about it since August, but couldn’t get the words on the page. Then this song, this magical, melancholic, deep, raw, honest song, helped me find words for what has been stuck for so long, and I had not been able to find the words to say. 

If you have seen the movie or know the story, you might be wondering/panicking how I could possibly relate - I am not a waitress with a super power for baking pies, nor do I have a horribly dysfunctional marriage (for which I am extremely grateful...although if the Pats go to the Super Bowl again this year, all bets are off). However, the main character finds herself in a position in life that she didn’t expect and didn’t necessarily ask for. She has to come to terms with the things that she feels like she has lost about herself.

"It’s not simple to say,
that most days I don’t recognize me”

Sometimes I feel like I spend most of my time hanging out with someone I don’t know. I move through life in this body that I don't understand, with likes and dislikes I don't recognize. It needs things that I don’t know, and notes my lack of comprehension 99.9% of the time.

This became even more clear when an invitation recently arrived in my mailbox. My high school built a new arts building, and they named it after the single most extraordinary teacher I have ever had - Chris Wagner, my art teacher. They invited all of her former students to the dedication.

(And yes, that’s the caliber of teaching I am referring to - they built and named a building, just for her. No big deal.)

My old self would have RSVPed the very first day. I would have been beyond excited to see the building, and many of my favorite teachers and former classmates. I would have dug out my Varsity Art t-shirt for the event.

(We were State Champs. Admit it, you're jealous)

Instead, I froze. 

I let the invitation stare back at me from my desktop for months.
What do you say to people you haven’t seen in 15 years? 
How do I respond to questions about kids and jobs and travel and life?  
The response “treading water and staying alive” is a bit of a buzzkill to lively conversation. 

(Although, I’d like to think that all participants of the event also share my proclivity for staying on the alive side of things...)

Attending social events in a body you don’t know, is a bit like constantly parading around with a new partner. There’s nervous anticipation of how he/she will be received by your community, and the unsettling knot in your stomach that you don’t actually know what she’ll say or how he’ll feel about the event.

“It’s not easy to know.
I’m not anything like I used to be
Although it’s true
I was never attention’s sweet center,
I still remember that girl”

The truth is that I’m not the person they remember. 
Not even a little bit. 
I don't teach or sing, swim or run. I'm not making art, nor have I traveled the world as planned. I don’t have stories from my classroom, nor can I talk about this year’s Caldecott winners. I can’t honestly tell you the last time I picked up a viola.

In fact, the person they voted "most friendly" spends most of her time alone. 

Its difficult to admit, but I'm not proud of this new person in my life. 
I hope someday I will be, but I don’t think I know her well enough, yet. 

It’s much like a canvas on an easel, waiting patiently for the return of the artist. But instead of a colorful and evolving composition, mine has been haphazardly smeared with a fresh coat of gesso to cover all that lies beneath. As if, with one quick swipe, all that had been growing was flattened.

And that feeling, of walking into the studio expecting to continue work on your life’s masterpiece and instead finding it dripping with thick paste, has yet to go away.

I want to tell you that it has. In fact, I’d go so far as to say that I’m ashamed that it hasn’t. 
It has been 5 years.
FIVE years!
Get a grip, Lydia.

“She is hard on herself
She is broken and won’t ask for help
She is messy, but she’s kind
She is lonely most of the time
She is all of this mixed up and baked in a beautiful pie
She is gone, but she used to be mine"

She used to be mine.
This person that I knew, inside out and upside down, used to be mine. For better or for worse, for awkward growth spurts and an unprecedented long run with orthodontia, she was mine.

And.
Well.

I miss her.

I took a deep breath (or ten), put on my brave face, and went to the event. Buoyed by a dear friend and fellow varsity art team member, I nervously navigated the waves of familiar faces.

What a gift.

To be able to be there to honor someone who had indescribable impact on my life. 
To give her a big hug and say thank you.
To see my beloved art history and math teachers, and give my theater teacher a big hug. 
To joke about babysitting for my teachers' children, and laugh about memories of trips abroad.

I almost let fear and expectation get the better of me. I almost missed an opportunity that won’t happen again.
It was a stark wake-up call. My life, is a gift to be lived - not placed on the bookshelf until it looks exactly as I imagined.

“’Til it finally reminds her to fight just a little
To bring back the fire in her eyes
That’s been gone but it used to be mine”

On the surface, I’m not the person anyone remembers - myself included. But maybe beneath the thick layers of gesso and change, it's still the same composition. Maybe if I scratch hard enough on those extra coats of paint, I can still find that girl. Maybe, this is my chance to create something new.

She was gone, but I hope she’s still mine.