By Stacy Lynn Miller, as told to Rachel Reiff Ellis
If there’s one certainty about life, it’s that it’ll throw you curveballs. In 2015, a head injury and a series of strokes left me couch-bound with brain damage. My neurologist instructed me to take up reading. It was the best way to remap my brain, they said. Even though I’d never liked it before, I started reading everything I could get my hands on.
From that set of curveballs came another: A career change I’d never envisioned. I found I not only loved reading stories, but I also wanted to write them. I started penning novel-length fanfiction stories. The feedback I received at the site was very affirming. One incredibly talented author there encouraged me to continue learning proper writing craft and to pursue publication. Fast-forward to 2019, and I was signing my very first book contract.
In May of that year, as I was hard at work trying to get my manuscript up to snuff, I noticed I was having eye strain. I wasn’t concerned. I thought it must be time to get new glasses. So I made an appointment with the optometrist. That’s when life tossed me my next curveball.
‘Something’s Wrong With Your Retina’
At my appointment, I told my optometrist I’d been having significant eye strain and that my vision seemed different when I was in places like the grocery store. He didn’t gloss over these facts. Instead, he said, “This is unusual for you. I think you should get an extra scan to be on the safe side.” I’d been seeing this optometrist for over a decade, so I trusted his judgment.
He gave me an optical coherence tomography (OCT) scan, which is a noninvasive imaging method that uses reflected light to create pictures of the back of your eye. Once he got the results, he didn’t mince words. He said, “You need to see an ophthalmologist right away.”
Those are scary words to hear. I asked for clarification. What had he seen on the scan? He told me that although he wasn’t 100% sure what the issue was, he could see something was wrong with my retina.
Because I’m retired military, a visit to an ophthalmologist required a referral from my primary care doctor, which delayed the process a bit. But I was lucky to get an appointment a couple of weeks after getting the referral.
At the ophthalmologist, I had a battery of tests, including a fluorescein angiography. That involves injecting dye into a vein in your arm and taking images of your eye as the dye moves through the blood vessels there. Unfortunately, it was an uncomfortable test for me. The nurse couldn’t get the needle in correctly. I nearly fell out of my chair from the pain.
The ophthalmologist came in to see me. He was abrupt. “You have something called macular telangiectasia type 2 (MacTel). It affects your central vision. You’ll lose that vision and become legally blind. There’s no treatment, and there’s no cure. Some patients think taking AREDS 2 vitamins helps, so head to the desk if you want some. Come back and see me in six months.”
He handed me a pamphlet and left. That was it.
Building a Better Support System
I walked out of the office stunned. I felt as though I’d been told my life was going to change forever, and then been dropped into a sea of confusion with no liferaft. I knew I needed to find the right doctor who could help me — and learn as much as I could about MacTel.
I scoured the internet for anything I could find about the condition. During that search, I stumbled upon a private Facebook group for MacTel type 2 patients. It was a wealth of information. People were sharing their own experiences and research. It was through this group I realized I wasn’t alone. I found people I could scream, cry, and laugh with. They understood what I was going through.
Through the group, I also learned about a clinical trial that the Lowy Institute was conducting. The trial was in phase III, and they were still recruiting. Through the Institute’s website, I found Diana Do, MD, at Stanford University. Her pedigree spoke for itself. When it came to MacTel, she was world class. I decided a 200-plus-mile round trip to see her was more than worth it.
So in 2020, I joined the clinical trial under the care of Dr. Do. I traveled to Stanford every other month or so for checkups and scans. I learned after the trial that I did receive the sham procedure and not the actual device, but I’d been prepared to assume that risk. It was important for me to participate regardless so that my data could be a benchmark for how well the treatment actually slowed progression of the disease.
Medical professionals often mistake the early stages of MacTel type 2 for age-related macular degeneration. Since treatment is different for the two diseases, it's important to seek second opinions. With the new Encelto treatment, a gene-based therapy, it's important to seek treatment early to slow disease progression and preserve as much central vision as possible.
Make one of your first questions “How many people have you seen with MacTel?” I didn’t want to be my doctor’s first and only patient with it. You may have to travel to make this happen. But if you’re able, it’s worth it. I’d travel anywhere in the world to get the care I receive from Dr. Do.
Living With MacTel
MacTel progression is slow, so it can be hard to notice changes in your vision from one day to the next. But at the end of the clinical trial, I took the same tests I did upon entry. And the difference in my results was stark.
They asked me to read a prepared text. The first time I did it, I couldn’t see some of the letters, but I could still get through it without a lot of adjustments. Two years later, two or three letters had disappeared entirely from each word. I’d have to do what I call the “MacTel wag” — move my head to shift my vision from central to peripheral — to actually read the words.
That’s when it hit me that, although this is a slow-moving disease, it’s cruel when it does progress. It robs you of your central vision. I can see everything that’s big or far away. But when I try to read something up close or in the near distance, I’m completely lost.
I’m still in the Facebook group that illuminated my path right after my diagnosis. In that group, we grapple with these things together. Some of the most common questions I see are “How do you cope?” or “How long until I have to give up driving?” Losing independence is a big fear. And the answers aren’t one-size-fits-all. Two people may start the disease at the same time but progress at different rates. Everyone’s journey is different.
You can lead a full life with MacTel, but there’s an adjustment period. It can be hard to predict, which is one of the most frustrating aspects for me. But at the same time, I can point directly to my diagnosis as the reason I’ve written 19 books in five years. I’m in a race against time. That’s compelled me to put out as much work as I can before I need adaptive tech and tools to do so. If I hadn’t had this disease, I probably would’ve stuck to the traditional rhythm of two books a year. Instead, I’ve doubled that.
Information, preparation, and a tribe that “gets you” are where you can find your strength. Embrace what you’re facing through knowledge. Learn as much as you can and learn how to adapt to it. You may not overcome every obstacle, but you can adapt.
