Inside: Searching for a diagnosis is miserable, but what if finally having an answer is even worse? Read on to find out what it’s like being undiagnosed while slowly becoming paralyzed.
On October 12th, 2017, I went back to Vanderbilt to find out why I have the early signs of ALS.
I expected to be really nervous and anxious in anticipation of this visit, but something in me wasn’t nervous at all. It’s like I know the possibilities – I’ve been agonizing over being undiagnosed for months – nothing is going to come as a shock at this point.
As soon as I go back, I’m greeted by a new doctor. One I haven’t met before and is at least 20 years younger than the current doctor that I’ve been seeing.
He does a routine physical, checking for all of the possible signs of ALS. After 15 minutes of watching me walk back and forth and examining my tongue, he confidently concludes Benign Focal Amyotrophy.
I ask him how many people he has ever diagnosed with this and he says one. As you can imagine, this does nothing to calm my fears.
At this point, I am an experiment to doctors.
He says that ALS is completely off of the table and that he is 99% sure that it’s Benign Focal Amyotrophy.
I ask him about PMA (progressive muscular atrophy – a form of ALS that I’m most worried about). He says that PMA is still a chance, but he really believes it’s BFA. Ok, so I’m not undiagnosed anymore?
Doctor’s Appointments are Emotional Rollercoasters
He leaves the room, and I immediately begin celebrating. I imagine a life free of doctor’s visits and unnecessary medical bills. But there’s something in me that’s still not convinced; It seems like the doctor had his mind made up on my diagnosis before I even got to the office.
A few minutes later, my regular doctor enters the room. He has an additional doctor with him that’s interested in seeing what’s going on with me.
At this point, I am an experiment to them.
They know this is something extremely rare and question how this could happen to someone so young without it being genetic.
The main doctor evaluates me again and comments that given the amount of muscle loss, I’m still very strong.
Fucking right, I am.
He concludes BFA, as well, and asks if I have any more questions.
And here we go – the most dreaded question that I already know the answer to; Each time that I have asked this to a doctor, the look on their face tells me exactly what I don’t want to hear.
“If I have BFA, then why do I have muscle twitching in my entire body?”
And like clockwork, I see the concern dripping off his face and he replies: “You have twitching everywhere?”
“Yes.”
“Can you show me?”
I tell him that it’s not obvious in the rest of my body, but that it happens continuously in my arms. He stares at my arms for about 15 seconds, before he sees a nerve jump through the skin.
The doctor then says, “I can see why you would be concerned. This concerns me, too.”
He originally said that they would not need to see me again for another year, but now offers to see me again in six months. He also offers to refer me to an occupational therapist.
And this is where I’m at today – completely fucking confused (and still undiagnosed).
Final Thoughts on What It’s Like Being Undiagnosed while Slowly Becoming Paralyzed
I don’t think anything can prepare you for this. This absolutely fucking sucks. I’m venting here, because I don’t normally vent to anyone.
I’m in a complete fog that I can’t seem to shake. I don’t feel like talking to anyone about anything. I’m sure this will wear off, and I’ll go back to being my usual happy self, but, for now, I just want to be alone.
I need time to process things.
I need time to grieve.
I need time to cry it out and then remind myself that I’m still undiagnosed and that I could very much be in the best point of my life right now.
I need to get back the physical and emotional strength to overcome this.
I need to take time for myself right now to focus on how I’m going to win this battle.
I need time for retrospection.
I need time to envision a future – one where I’m very much alive, happy and well.
I just need more time.
What’s Next?
To read more about searching for a diagnosis, rare disease and disability, visit my wellness content hub.
To find out what happens next, visit The Hardest Part of Possibly Having a Terminal Illness.
Are you searching for a diagnosis or living with a rare disease? Comment below and tell me your story on how you’re dealing.
Allie Schmidt
Allie Schmidt is a rare disease advocate and disabled mom living with motor neuron disease. She founded Disability Dame in 2020 to provide tips to other moms living with disabilities and chronic illnesses.
In her spare time, you can find her traveling with her husband (she's been to 38 states and 16 countries!), watching reruns of Survivor, or tending to her near-constant sunburn from spending too much time outside. You can follow her adventures here.
Hi,
Thanks for sharing your story. I am going through something kind of similar. I have been having speech issues for about a year now (32 years old) which have been undiagnosed. I had 2 full body emg’s which have been normal. I had one laryngeal emg, which showed some abnormalities in one of the muscles. However, the doctors have not been able to diagnose me so far. I have the same fear of ALS. My neurologist said with a clean full body emg that is off the table, however my speech issues have not been resolved. I am in a wait and see game (if anything progresses bad news. If it doesn’t then good news).
I’m so sorry to hear that. I’ve found that a lot of people who don’t have to deal with issues like this feel bad and say something like, “Wow, that must be so hard being in limbo without an answer.” (Which it totally is!) Except that when the alternative is getting diagnosed with ALS, you tend to want to hang out in limbo for as long as possible. I attended a meeting with our state lawmakers to urge them to move the ACT for ALS forward. When I shared with them what it was like living with ALS, I told them, “I’m becoming paralyzed, and all the doctors can do is offer me physical therapy and tell me to come back in 6 months.” It’s bullshit. All I can say is, I know how you feel and it’s terrible. If you ever want to talk, please don’t hesitate to message me.