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.
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.
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.
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.
I’m right where I need to be, and tomorrow, I’ll try again.
After all, sometimes even rare robotic mutants need a break.