Genetics: Gene, Gene, Gene, Gene… GOOSE!

Pour a glass of something strong because I’m inviting you to embark upon a potentially life-changing genetic adventure with me.

Or don’t read this and drink your whiskey in peace.

Either way, my GP referred me to a genetic counselor last winter after I received somewhat dodgy mammogram results but the geneticists never returned any of the six messages I left.

And this was before coronavirus had really hit the United States so their lab wasn’t all busy making vaccines or being otherwise existentially overwhelmed.

There wasn’t really an answering service for this genetics lab… just a *beep* after which I left multiple voicemails.

Consequently, I didn’t feel like I was truly making contact with a legitimate genetics lab.

Maybe they did genetics or maybe most of their income came from meth production.

Hard to say. They never returned any of my calls.

In any case, I later got a neurologist who made me feel like she was really taking care of me.

Unlike some other doctors out there.

No, my neurologist listened to me, took me seriously, didn’t allow me to downplay symptoms and took informed action.

In fact, she also referred me to a neurological genetics counselor but this one did call me back.

My neurologist also informed me that geneticists are known to not get back to people right away.

Or ever.

I had no idea geneticists had that kind of reputation.

In any case, I had my first virtual meeting with my genetics counselor yesterday,

and she was so nice.

I especially enjoyed our talk about “foam” and “quality spit” because I would in fact wonder if foam qualified as spit.

For the record, it does not.

And I didn’t realize so much progress had been made in the genetics field in the last two years!

For example, there is now a test which can predict the likeliness of whether a person will likely experience amyotrophic lateral sclerosis (ALS) or frontotemporal degeneration (FTLD), the latter being what my beloved mom long suffered with,

and for which there is no cure or treatment.

Yikes.

Sidebar: As the counselor talked, I really couldn’t get the little cartoon DNA strand from the original Jurassic Park out of my mind.

And then my brain went from Mr. DNA to the velociraptor and my favorite meme:

And then my mind was right back to the genetic test counseling at hand.

And I think I have a problem with focus.

Hah.

Anyway… they can now test to see if a person has the C9orf72 protein because it has been shown to be linked to ALS and FTLD (which is the same as “FTD” and you know the medical community is getting somewhere with something if they change the name of something).

So that’s pretty crazy.

And also flies directly in the face of what my Pittsburgh neurologist said to me:

“You will definitely not get FTD. There is no data that shows it’s hereditary.”

Sigh.

I also understand that not everyone would want to know the results of this test.

If your life is humming along, you may not be ready to risk upsetting it so dramatically.

It reminds me of really dramatic movies I’ve seen where young people decide whether or not to get genetically tested to see if they carry the defect gene which means they’ll inevitably get Huntington’s Disease.

Except Huntington’s has treatment options and the possibility of a cure.

Unlike ALS and FTLD/FTD.

In any case, I’m at a bit of a life crossroads.

And I want to know when I can start using my credit card irresponsibly, here and there.

Besides, genetic testing could bring about a huge sense of relief!

At the same time, it could bring about a:

WORST CASE SCENARIO

which means the test came back positive for the C9orf72 protein and the other test showed I am likely to develop all forms of cancer.

Highly unlikely.

But simply testing positive for the C90rf72 protein would alone qualify me for the worst case scenario which is why the genetics counselor who called me back got rather serious.

It makes ethical sense that my genetics counselor went through how some people choose not to know such information.

I mean, it could be a real life-changer.

Of course, if someone has the C90rf72 protein, it doesn’t mean that they will for sure experience ALS or FTLD/FTD, neither having a treatment or cure.

At the same time, a positive result should cause one to reevaluate future life plans.

For example, I’d like to adopt a child someday.

But I wouldn’t adopt a child if that C9orf72 test comes back positive because, well, that could be particularly shitty:

(hypothetical meeting with my foster/adopted child)

Me: “Hi! I’ll be playing the role of your mom! Yay!”

Two years later: “Oh no! I have an incurable and untreatable horrible degenerative disease!”

Five years later: “I’m dead and now you don’t have a mom again.”

I simply couldn’t do that to a kid.

And the worst case scenario would also cause me to edit my imminent death plan. My original death plan had involved traveling back to Scotland but since America has really outdone itself with its non-handling of the coronavirus and I’ve lost all connections to the underground, I can’t do my original death plan.

This is why you should always have a secondary death plan.

Because you never know when your first death plan will be made impossible by the plague. And, by not having already foreseen a global plague which would foil your original death plan, you realize you’re not nearly cynical enough.

Seriously. Recently, President Trump literally asked Fox News’s Chris Wallace for the “death chart.”

Not mortality statistics or the mortality rate or “the numbers” or anything.

The death chart.

Chris Wallace didn’t have the “death chart” so the American President had to go elsewhere.

Wondering if you’ve wandered into a parallel time dimension is at times a form of wishful thinking.

In any case, back to science and my own death chart, since my family tree is riddled with mostly every kind of cancer you can imagine, I’m also getting a second genetic test done to see if I’m more inclined to develop any particular kind of cancer.

The results of that test could lead to the:

NOT SO BAD SCENARIO

which means that the other genetic test shows I’m more likely to develop a particular kind of cancer.

And that would be a huge weight off.

Why?

A family member once told me:

“It’s not a matter of whether you’ll get cancer. It’s just a matter of when.”

And that’s not fear-mongering… you really have to see my family tree. It’s a cancer free-for-all because more than a handful have had their own personal kind of cancer: stomach, brain, prostate, colon, breast, lung, esophageal, bladder, leukemia, pancreatic…

Right. Therefore, the not so bad scenario means that a genetic test would have just narrowed it down to me being more likely to develop one or two cancers, which would consequently help to trim down that panic and dread I often feel.

Once I have that data, I can acquire specific preventative screening tests on a more regular basis so I can catch that cancer, if it manifests, early.

And then I’d have a better chance of survival.

After all, genetic testing can only provide predictions, based on hard data, which gives you more knowledge. And you can use that knowledge however you want.

It’s kind of like going to see a mystic who can reveal her sources/data.

As an applied example, a not so bad scenario could help me acquire a biopsy.

As I shared earlier, last winter I had my first mammogram and, after the test, the tech brought me over to the screen to show me what she saw and that I’d probably be called back for further testing.

It’s a bad sign when the tech calls you over to the screen to see what they’re seeing.

But I wasn’t called back for further testing.

So I made an appointment with my GP and she wanted me to get genetic testing before she ordered a biopsy but the lab she referred me to… again, doesn’t exist or maybe they’re really irresponsible geneticists… or, again, maybe I’m not their kind of customer.

So, with the Not So Bad Scenario, I could acquire that biopsy

and then

a) feel assured that the mammogram results were in fact probably nothing beyond a rather unexpected and abnormal baseline

or

b) get ready to battle/not battle.

And, saving the best for last, there is always the chance for a:

BEST CASE SCENARIO

which would mean that I’m genetically cleared.

Liberated!

Freed!

In other words, the best case scenario means that the tests showed that I don’t have the C9orf72 protein and I don’t have any worrisome genetic mutations or repetitive coding which means I’m not more genetically inclined to have any kind of cancer.

And that would be a huge relief to me.

And then my hostile General Patton mind would pipe up and tell my body to shut up about all the weird shit it’s experiencing because the genetic tests came back clear.

And if my body isn’t susceptible to my mind bullying and still has issues, I can chalk it all up to either PTSD or some super rare disease I’m not going to worry about because I already have brain lesions and epilepsy.

And that’s enough.

Thus, I’ll stick to my Quest for a Relatively Stable Life plan.

But, before any of those scenarios play out, first I have to submit my spit.

And I’m still waiting for my spit cup to be delivered.

Deliveries are a bit of a hassle. We don’t have a door bell so a delivery person has to either knock really loudly on the door, call one of us or start screaming outside.

No delivery person has cared enough to start screaming yet.

Back when we first moved in, packages would be left on our front stoop soundlessly so… naturally, since we didn’t know a package was waiting for us outside, someone would steal it.

We live in Milwaukee. This is how it works here.

In any case, my husband and I have been having shipments that won’t fit through our mail slot delivered to our friends’ house because otherwise they would likely be stolen if left on our front stoop.

But this spit cup will be sent directly to our building and probably won’t fit into the slot so if anyone does steal it, like the homeless person who is apparently quietly occupying/utilizing our front stoop,

it will be a great disappointment to them.

Unless they were looking for a place to keep their spit.

Then they’d be set.

Beyond my heartsickness with homelessness being such a prevalent issue in America, I also feel the homeless person may be a deterrent to those who would steal packages from our front stoop.

City life.

But hopefully the spit kit will be successfully delivered to me because I’m selfish and want answers and it took some work to get this genetics counseling thing going.

And my suppressed personality’s muffled shouts are driving me crazy.

And it will take at least six weeks to get my results so, until then, I’ll… do other things like stare at trees, read, write this blog, drink wine and focus on not having seizures.

Since writing about all this has stressed me out, I’m going to end with a calming photo… for you and for me.

Hope everyone reading this is staying safe!

Oh, are you still there?

Okay… as a disclaimer for telling you to drink whiskey earlier, I’m really ending with this reminder:

Because that print is for sale in my Etsy shop which has lately been as dead as the ghosts featured in The Bank Doesn’t Care if Your House Is Haunted: A Ghostly Storybook

which also features my beloved mom and which is also for sale in my Brain Wars Etsy shop.

Thank you.

Goodnight. 🖤xx