Deadline on Life
I have been wanting to start writing my column/blog again for months now, but I can’t get past the giant X inhabiting every room of my life.
By “X” I mean the X gene - in humans. It’s one of the two “gender” genes. We all have them. Men have one X and women have two. Men = XY. Women = XX.
As a woman, I have two Xs. But one of them is messed up. Unfortunately, gender isn’t the only thing the X chromosome is tasked with. The cerebral cortex is also on there. So mess-ups on your X affects some really important stuff - like walking and swallowing and memory.
The X
My effed-up X gene has resulted in a disorder known as Fragile X-Associated Tremor and Ataxia Syndrome. FXTAS for short. I struggle to pronoun that letter combination so I usually refer to it as my “Effing Shit.” I found out I had it at the end of last year, in November of 2023.
It rocked my world.
It’s not a good rock. It’s a really bad rock. One of the worst I think anyone could ever run across. You have heard of Parkinson’s Disease, ALS/Lou Gerig’s Disease and MS right? You know those are bad. FXTAS is actually worse, at least in terms of “prognosis.” All those disorders can at least be treated. My Effing Shit can’t. It often includes dementia in addition to losing the ability to walk and swallow.
It is going to kill me. How it is going to kill me is pretty certain. I’ll likely drown in lung fluid (aspiration pneumonia). But the question of when this will happen is more flexible and very hard to nail down.
Meeting with Dr. S.* on December 1, 2023
Me: Is this going to kill me?
Dr. S. : Yes
Me: When? How long do I have?
Dr. S.: Several years. …. I don’t have a crystal ball but if you are really, really lucky you might make a decade.
The Reaction
I took his phrase “a few years” to mean 2 or 3. I was not yet 61 when he gave me the bad news. So I understood the truth to be that I would not see 70. I would be doing well if I saw 65.
For those of you who have not yet reached middle age, 70 may sound like a good number. But at 60, with no other major health issues, it is a bad number. Add into it the fact I would go from using a cane to a walker to a wheelchair to bedridden - my way to the choking - made it extra bad. AND there was a reasonable chance I would develop dementia somewhere along the way. So - it was really, really effing bad.
Why me?
Not everyone who has a messed up X gene develops FXTAS. But it can be triggered by emotional and physical trauma. I had both in the year before my diagnosis. In May of 2022, we had to put down our beloved dog Otis. His brother, Milo, was killed exactly three weeks later, almost to the hour. He was hit by a car in front of our house.
We were terribly grief-stricken after losing our two beloved pets in the course of only 3 weeks. But we all agreed we needed to get another dog as soon as possible. We simply needed a dog to love. So we got Nacho, a puppy.
Nacho died of parvo-virus, howling in pain in my arms, 3 months later. If you are keeping count, that’s 3 dogs in less than 4 months. Very hard.
Then, in March of last year, I fell and shattered my right wrist - surgery, a metal plate, and way more pain than I ever expected. I had a very close relationship with ice for months. It was almost pornographic.
Apparently, pain medication that actually relieves severe pain, is not a viable option for humans these days. That’s a whole other story. I have been complaining for almost a dozen paragraphs so far, so I am going to stop right there. I will vent on that topic in the future. Unless the dementia hits.
Where was I?
What the hell was I talking about when I started writing? Oh yeah, writing.
I was a community journalist for over 20 years and published what was known as an "opinion column” for most of that time. I loved writing it. And some people told me they liked reading it. Apparently I have a sense of humor, albeit a strange one.
I had also started a website, a sort of community newspaper for things I cared about that I thought others might care about too. But when the X hit, that stopped cold.
Still a journalist
Not writing for so long made me feel like I wasn’t me. Add the FXTAS and I was super feeling “not me.” I didn’t know who I was. I felt my whole life was somehow being erased. I still feel that way. I worry the only thing people will remember about me was I died of some awful genetic disease. The person I was for 60 years will be swallowed up by this monstrous, mutated X.
I need to write. It is simply part of who I am. But for too many months, I have not been able to. My wrist has never really healed (likely because of the X, which targets your muscles etc.). Typing is difficult. But the wrist was just an excuse. I couldn’t bring myself to write because I was just too sad and depressed and freaked out.
I am still all those thing. But for some reason, I can now do it. I can write about this effing shit without dissolving into a puddle. At least, I can write enough to get farther than one paragraph. Heck, I can even click “publish” in Squarespace.
I hope to be able to write about lots of other things besides my effing shit in the future. Only time will tell. But the first thing I needed to do was this.
I don’t care if anyone reads this. The accomplishment is writing it and putting it out there. It frees me to be able, hopefully, to once again ramble on and on about … whatever.
Thank you for listening. Or reading. Whatever.
Please note:
1) Dr. S. is a neurologist at one of only four clinics in the country that know what FXTAS is and treat patients who have it. It is extremely rare. Most neurologists, not to mention regular doctors, have never heard of it. But it is directly related to a condition some people have heard of - Fragile X Syndrome. I don't have that. I have something that hits carriers of the gene that can produce a child with Fragile X.
2) The quotes from a meeting with Dr. S. are direct quotes. I said those exact words and the doctor said those exact words. I know because I was in the room, along with my husband. I have been a reporter for far too long to not have noted the exact words in that particular discussion.
3) FXTAS was only recently been “discovered” and information available online is outdated.
