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 3^rd 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.