For those of you reading this, I want to thank you for being a small audience for my survival memoir writing.
In contrast to social media, having a blog is like having an audience who mostly want to be there.
I’m sure a few of you just logged off because you’re all ohshit I can’t deal with whatever you’re building up to right now…
But I trust that you will return if only because you haven’t unsubscribed yet and things just got fucking real.
And because this isn’t Facebook.
If someone posts bad news on Facebook, you have the trolls saying
EW BUMMER YOU JUST CRASHED MY DAY! WAH! MEEEEEEEEEE!
OMIGOD HAVE YOU TRIED THIS SUPPLEMENT??? I SELL IT THROUGH MY ONLINE HOME BUSINESS AND IT HAS CHANGED MY LIFE COMPLETELYYY!!!!!!!!!!!! 🌻
I sometimes wonder if people really do have souls.
In any case, as a former vault,
I’m now a share-er. It’s toxic to keep terrible news inside.
So I’ll stop ranting and cut to the chase… I got my genetic results Tuesday evening and they were not good.
In fact, the thing I had been fearing happened and I tested positive (GENETICALLY) for FTD/ALS.
Again, my beautiful mom had early-onset dementia or FTD.
In my case, what the genetic results mean in specific terms is that I have a repeat of the chromosome C9ORF72.
And not only do I have one repeat of that chromosome, but I have 145 repeats of that chromosome.
That’s my genetics for you… if we’re doing this, we are really doing this.
My genetic counselor says it doesn’t matter how many times the chromosome repeats but she also said it was odd that the lab wrote down the number of repeats “because they don’t usually do that”.
Now 25-50% of Americans walk around with this repeat of this chromosome but 25-50% of Americans do not also get FTD/ALS.
So that’s great. That’s a big sigh of relief. I have a statistical chance.
Or so I felt until that particular flame of hope died.
Because the genetic counselor continued talking and my family history all but makes my likeliness to avoid FTD/ALS slim to none.
Given how my beloved mom had behavioral-deviant frontemporal degeneration and started exhibiting symptoms in her mid-30s
how her brother who is closest in age to her and who is in his early 60s is currently housed in a state hospital in Hawaii because he suddenly started to exhibit very intense symptoms last year and was found wandering the streets…
the cards are simply not stacked in my favor.
But, honestly, I think I have at least 10-15 years.
This belief is not based on science. It’s mostly based on how I wrote down my life when I was 17 and it kind of drops off just after age 50.
In any case, my poor odds got even more poor because the genetic counselor who is super nice kept talking. In fact, she shared that I had amotherflippingnother genetic variant which is associated with FTD/ALS and also this super rare syndrome which…
(in my mind: What, am I nobility? What in the world of cats is going on?!)
…“has symptoms like those found with Parkinsons but also some muscle issues”
If you look up this syndrome (and I’m not going to identify it) all the internet says about it is how it’s super rare and also causes
and then the genetic counselor kept talking: “… and people with this syndrome have hyper quick or super slow reflexes…”
(and I interrupted her to excitedly say) “I HAVE SUPER CRAZY QUICK REFLEXES…”
“But you have epilepsy. Epileptics are known to exhibit that.”
And she almost bent over backwards to reassure me that I was highly unlikely to get this syndrome but she was ethically compelled to share the results with me because I will get them in writing and, if she didn’t address it, she didn’t want me to worry
etcetera etcetera etcetera
I could tell she really hated to talk about that syndrome because she listed off the atrocious symptoms super fast.
But, for me, that was kind of when I fell backwards into some kind of delirium, astounded, marveling at the thought of having FTD/ALS and Parkinsons and also some kind of monstrous disfigurement.
I mean, this could really help me to sell books. After all, the title of my WIP is What Doesn’t Kill You Makes You Weird at Parties.
And maybe now doctors will take me seriously. And I’d like to send a copy of this report to my Pittsburgh neurologist who “promised” me I wouldn’t get FTD.
Because I knew he said it out of pity and if there is one thing I dislike more than people saying things they can’t back up is being the object of pity.
Unless I just had a monster tonic-clonic seizure and am covered in blood and suffering through the dread of a frontal lobe seizure… then pity me all you want.
Because that is just hell.
In any case, I feel life is a big moral test of just
before they allow the darkness to consume them and they become an angry, ugly, violent, selfish, power-drunk horror show.
I wasn’t raised Catholic or in some kind of masochistic cult but I do see the world as a battleground between dark and light, good and evil.
So my current goal is to not turn into Mark Zuckerberg or Google.
In any case, back to the mind-numbing genetic results, they also found that I have an odd little gene that is not associated with any disease at this time but it may be why I have epilepsy.
When the genetic counselor told me this, a little spark in my mind was lit and my metaphorical researcher hat was put back on.
THE ANSWER NEUROLOGISTS HAVE SOUGHT MAY BE IN THIS LITTLE GENE which is titled “GRIN3B”.
Isn’t that sadistic?
I think so.
The genetic counselor agreed.
And, finally, the cancer genetic test came back with none of the “big players” showing up like BRCA1 or BRCA2 so I at least don’t have to schedule a mastectomy this week too.
So that was the good news (I had a squirrely mammogram last year).
Thus, this was where and when some relief tried to manifest within me.
But, in a way, I was also a little disappointed because dying from cancer sounds a bit less horrifying than dying from a slow-moving degenerative disease which strips you of your ability to talk, communicate, move, function… all while you being often cognizant and thus trapped… and then it kills you.
After you’ve been whittled away, body and mind, to virtual non-existence.
So I was all… let’s do the genetic test which tests for more rare forms of cancer because I need a better hypothetical death option.
I made my genetic counselor laugh with that super dark comment and she ordered the additional test.
SO WHAT DOES THIS MEAN, WHAT ARE THE NEXT STEPS, WHAT HAPPENS NOW
Immediate Next Steps
The genetic report will be typed up and sent to my neurologist who will then analyze everything and give me more feedback.
Also, I have been referred to schedule a neuropsychological assessment so they can establish a benchmark which they can then use to measure any cognitive decline.
Finally, I have also been referred to begin “presymptomatic treatment” with a neurological specialist.
You know I’m going to bring in my Sodoku app to show the specialist how my completion time is faster than all my online competitors.
This is time for my Type A personality to shine. Or Type C personality…?
In any case, maybe this is what I’ve been waiting for.
More General Next Steps
Life is short, no matter how you slice it. Genetics has come a long way in a short time. Targeted therapy tests like that now available for FTD/ALS are now available in the way it was for Huntingtons Disease years ago.
And they are predictive and not diagnostic.
At the same time, this isn’t like a tarot reading; this kind of prediction is logically constructed, based on quantitative variables which have been soundly proven in many applied studies.
It’s hard science.
So, while the initial reaction of the few I’ve told has been, “But it’s not for sure“…
Sure, nothing in this world is certain.
Also, I’m 41 years old so I’m now more likely to die from a wide variety of fun options.
And I have epilepsy...
Since I’ve had epilepsy since I was a tween it doesn’t feel like it could kill me thought it at least twice almost did.
Yet, the overabundance of electricity my brain produces alone could kill me and, if you ask a certain Milwaukee neurologist, should have killed me by now.
I also live in Milwaukee where I’m so much more likely to die in a violent car accident or shot by some raging person.
Oddly, if I indulgently dwell on all the possible ways I could realistically die, dying because of road rage is the least appealing.
Give me wasting away over dying on the interstate at the hands of some horribly unbalanced self-absorbed human.
I feel so strongly – such disdain – for those with uncontrolled violent road rage, those who take out their pain on others, that if I died because of it, I would then feel compelled to haunt a road.
And that is just so cliché.
Oh yeah, and I could easily also die of COVID because we’re also living in a plague and presently where I live, Wisconsin, is faring the “least best”.
So, really, the genetic results mean very little.
Sure, they could find I’m demonstrating symptoms now and then my days are numbered but everyone’s days are numbered.
And holy cats we can’t live obsessing about death all the time. A plane could land on any one of us at any time.
The future, our future, is nothing if uncertain.
When my beloved cousin was living with terminal brain cancer, he’d always say that people were praying for a miracle for him.
In response, he’d shake his head and say that he’d already received a miracle because it was his third bout of brain cancer and so… he had been given the extra time to spend with family and friends.
“We’re all terminally ill,” he’d say.
We simply have to find a way to cherish our time when we have it.
And do what we feel we need to do while we can still do it.
Gaze in wonder at trees blowing in the wind.
However, sadly, my genetic results are certain enough for me to eliminate ever adopting a kid as an option. I can at least ensure that a child doesn’t have to witness my degeneration, if it should happen.
An adopted kid would have already had their fair share of trauma and I simply wouldn’t knowingly risk them being exposed to FTD/ALS as a witness.
Child: “Hi Mom!”
Now I am now equipped with knowledge.
Beyond that, it’s all about living for today in an ethical way.
Also, what’s kind of odd is how a local private college, on the same night I was run over by the Mack Truck genetic results
sent me an email regarding a professorship I had applied for which used the words “impressed” and…
well, I’ve always dreamed of being an old and eccentric academic in an venerable small liberal arts university with an office cluttered with books and a view of the campus grounds.
Maybe I could teach philosophy as that was almost my double major as an undergraduate and I adore the field of thought.
And if I taught philosophy and began showing symptoms of FTD/ALS no one would hardly notice because I would have already seemed semi-insane with crazy hair, completely absorbed by the thoughtscapes constructed by dead people and yet still as vibrant and alive as they were in their conception.
But I’m getting ahead of myself. And if any of them read this they would definitely not hire me.
LIVING ON THE EDGE.
In any case, my goal is still to acquire a house and some dogs.
And if my symptoms start kicking in much more quickly than anticipated, maybe dogs can watch me die for a change.
I’ve had about enough of witnessing death.
In closing, I’ve had a surreal week and I’m still processing the news.
I feel a bit like how William Shatner felt when he had that surreal plane ride where he kept seeing a creature outside his airplane window in that famous Twilight Zone episode…
because I too, while attempting to process the test results and what they mean, have been experiencing the same sensation of being trapped in a vessel with strange people outside my window.
Men in baskets on two different lifts chiseling away at the exterior brick all day long. I was doing my sit-ups yesterday morning and looked up to see a man looking right back at me.
Along with the ongoing drilling noise is the mind-spinning
of the lift and… it has really scared the mice in the wall.
They are skittering around in there as if their mouse lives depend on it.
So it’s not been the most peaceful or non-disruptive context in which to process such news.
But that is simply life.
And, as always, music is medicine, so I leave you with the two songs I can’t stop listening to this week:
and also the reminder that there are only
And… the problem with people knowing about this is that they may treat me differently or they could be actively looking for symptoms of my degeneration.
“Whoa! Was that a symptom?”
“Whoa! Is that your face?”
13 thoughts on “When You Get the Results You Really Really Really Didn’t Want”
First of all. my tarot readings are logically constructed!
Maybe some of this uncertain news will lead to certainty in choices you make and paths you take.
I’ll hope and wish and pray that they find a way to head this off if it’s coming, but meanwhile I am here like I always have been, and will read all of the words you want to share, here and elsewhere.
I hope you get to be a zany professor. And I hope this ridiculously hard time you’ve gone through for so long gets wrapped in a bow and gets a book deal.
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I do love your tarot readings, dear Gabi. None have come true yet but I do know they are also mere predictions though based on scientific variables.
You know I’m a Jesus freak so I’m very much “Be still my soul.”
And yeah! The chemist who recently shared the Nobel peace prize won it for a very interesting treatment which does “specific surgery on cell” and… there are very cool things happening all the time.
Maybe there will be a treatment or cure for ALS/FTD… I know a lot of progress has been made so keeping hope alive. And I have a great neurologist so… fingers crossed. 😘
Love to you. 🖤
I’m so sorry 😦 You are very brave to have this tests done! Not sure I could do it. Take care and keep writing. xx
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Thank you H. It was my neurologist’s plan. I agreed. Now we know. I am devastated but… I’m old already. Even if I am experiencing symptoms, I’ve had a good run. Love to you and will keep writing
I eventually get caught up reading your posts. Today I did, since I’m sitting at home thinking about covid, and have all of this free time, all of a sudden. You let me ramble on about possibly having covid after you get this news?! Oh my. I can’t wait to have our girl date so we can talk in person about everything. That’s a lot of information to process. I’m thinking we can reschedule for Friday the 23rd if I’m not positive, that is. And if that works for you ❤️. I’ll keep you posted. Love you. Lots. ❤️❤️❤️❤️
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Love you, sister. Don’t worry. You just take care of you. We will get our rain date. Yeah… it was a devastating week but it’s also put life more in perspective. 😘
Oh my beloved sister. My heart goes out to you… we will get our rain date. Don’t worry. And… let me know if I can help in any way. Thinking of you and praying for you and LOVE YOU!
Just caught up a bit Hillarie and am so sad to read this. My bright beautiful funny friend that I didn’t get enough time to know really well, I’m hoping and praying that when this weird world sorts itself there will be space for us to meet, here in Scotland or where you are. A big reminder that if I want something I need to make it happen.
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Thank you so much Anne! I spent the weekend with my aunt and my uncle and his fiancé… it was so nice to get away to see the trees change color. 🍁😘
Thank you so much. Love to you!!!! Miss you!!!!!!
Do you HAVE to be such an over-achiever at everything, Hill?!
For what it’s worth, I have seen your future, and it is this: You are offered and accept this perfect dream of a job at the small private liberal arts college where you soon earn the unofficial title of Favorite Prof and Valued Campus Eccentric for your steadfast habit of living life to the fullest without heed of anyone’s judgement because you know your lifespan shall be brief and you are determined to not waste any morsel of it, EXCEPT, you will live the life you were born for, grabbing every joy that wanders within your grasp and seeking out more, spurning contempt from any small-minded irrelevant snobs,
(I may have hinted here and there that I have a little bit of talent.) It’s about time you started catching a break, and that time starts NOW.
No matter what comes your way, bad or good, you are not in it alone.
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Oh Lisa… I would be so happy to get that job! 😭 It’s even remote (COVID and all)… it would be just so… great. Like finally a piece fell into place which was “good”. I just can’t get my hopes up but… ohhhhhh it would be so amazing.
I really don’t want to begin all this treatment… if I lose my insurance I won’t be able to afford it but… I’m tired today so… I just won’t dwell on it.
Love to you. So much.
Thank you so much. So much.
Sending big, warm, swaying hugs.
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Thank you so much dear Lisa… the drilling, pounding and beeping has once again commenced this morning and so… big warm swaying hugs sound like just the antidote! 😘