When Emma reflects on her experience living with Thygeson’s disease, she keeps coming back to the same theme: isolation. Not just the physical isolation of sitting alone in a dark room during an intense flare-up, unable to open her eyes—“which was, and is, literally painful, but also a frustration,” she tells me—but the deeper isolation of managing a condition that nobody around her fully understands, with limited community, information, or roadmap for what comes next. 

An estimated 80% of rare diseases are genetic in origin, with 70% or more manifesting originally in childhood. Emma believes that contributes to the sense of separation from community that some people with rare diseases face. She explains, “As a child, you don’t have access to the same resources as your parents and you’re relying on information from your doctors or caregivers. When I was diagnosed at age thirteen, 21 years ago, I had no social media. I wasn’t using the internet. And it didn’t even occur to me for a long time that there might be resources or other people with this condition.”

The issue is that rare disease research hinges on awareness. When Emma had the realization that she could learn more about Thygeson’s disease, or possibly even find others with the same disease, she went online. “All I turned up were super technical white papers and medical papers I couldn’t really digest,” she shares. Despite Thygeson’s disease first being recorded in 1950, there is still a general lack of understanding about the condition today. 

Her career in public relations introduced her to the stories of others within the rare disease and chronic illness communities. After reading Golin Health’s Raising Rare Report, Emma resonated with the results of the challenges during the transition from pediatric to adult care. “At 18, I suddenly had to start managing my health more independently and I felt lost at the time. I was already going through a huge change, so getting my own prescription and using my drops was an added layer,” she says. 

The report also spurred action. Emma is speaking up to spread understanding and fight isolation “because I wish I had known people who were experiencing the same thing and could connect over the situation,” she says. In her Rareatives interview, Emma discusses living with Thygeson’s disease, the challenges of living rare, and her desire to connect with others who have the same condition.

If you have Thygeson’s disease and would like to speak with Emma, please email jessica.lynn@rareatives.com and I would be happy to facilitate the connection.

Diagnosing Thygeson’s Disease

Emma’s rare disease story begins at age 13. Like many teenagers, Emma wanted to fit in. And while wearing glasses is fairly trendy today, they weren’t as well-loved in 2004. When Emma’s parents finally agreed to let her try contact lenses, she was thrilled. For about a week. 

“My eyes became very irritated,” Emma shares. “They were stinging, watering, and burning, and it was clear that it was because I had started wearing contacts.”

But what Emma thought might be a simple fix—a different brand of lenses, another prescription—became much more complex when she returned to the eye doctor. During the exam, he found lesions on her cornea. 

Emma was referred to a cornea specialist at the Cincinnati Eye Institute, where she was later diagnosed with Thygeson’s disease. The specialist explained what it meant: Emma had a rare condition where small lesions develop on the cornea, making the eyes extremely sensitive to light. The symptoms she was experiencing would likely come and go in unpredictable waves. And the only treatment that could manage the symptoms was steroid eye drops.

“But I was told that these eye drops come with serious warnings. They can increase pressure in your eye, or lead to cataracts or blindness. That was overwhelming information for a thirteen year old,” she says. 

What is Thygeson’s Disease?

As I mentioned above, Thygeson’s disease—also known as Thygeson’s superficial punctate keratopathy or superficial punctate keratitis—is a rare, chronic disorder which causes recurring inflammation and elevated, grayish-white lesions on the cornea. According to Dr. James Aquavella, in a Review of Optometry interview from 2018, “There is usually bilateral involvement, although the extent may vary from left to right.” Essentially, that means that Thygeson’s usually affects both eyes, rather than just one.

During “attacks” when the disease is symptomatic, the lesions can cause symptoms for up to 2 months at a time on average, and up to 20 years in the worst cases. Individuals with Thygeson’s disease may experience:

• Photophobia (sensitivity to light) 
• Eye irritation
• Feeling like something foreign might be trapped in the eye 
• Corneal tears
• Blurred vision 

Thygeson’s disease usually manifests in someone’s 20s or 30s but is known to appear in people as young as three or as old as their 70s. 

What Causes Thygeson’s Disease?

Here’s where things get complicated: nobody is even quite sure what causes Thygeson’s. In the past, studies have suggested that Thygeson’s could result from a viral cause or from immune inflammation. However, reports Dr. Aquavella, “When TSPK lesions clear, there is no sign of viral involvement. Also, post-viral conditions often linger for longer periods.” Additional, Thygeson’s disease does not seem to respond to antiviral treatment. 

Since Thygeson’s disease seems to be more common in females than males, and has some crossover with autoimmune conditions like Sjogren’s syndrome (autoimmune disorders are also more common in females), some physicians have also posited that autoimmune dysfunction could be at play. However, this has yet to be confirmed. 

Of course, there could be an unknown genetic component at play. In 2021 research published in the Indian Journal of Ophthalmology, the authors write that Thygeson’s “may have a genetic association with HLA-DR3, an antigen proved to be associated with immunogenic responses.” 

The possible genetic basis for this condition is something Emma has been considering ever since she became a mother to her two children, ages one and four. “To my knowledge, nobody in my family has eye issues. But could this be a genetic concern?” she asks. “I wonder if I’m going to impart something I don’t want them to have.”

Treating Thygeson’s Disease

To this day, there have been limited advancements in possible treatments for Thygeson’s disease. Lubricating eye drops, therapeutic soft contact lenses, typical cyclosporine, and topical corticosteroids have all been used as therapies. However, these may only provide temporary relief and can come with additional side effects. 

The Need for More Awareness

After Emma was diagnosed, she held onto the supposed good news that the specialist reinforced to her: that most people grow out of Thygeson’s disease by the time they’re twenty-one. Unfortunately, her specialist did not give her the correct information. 

While some cases of Thygeson’s disease can be self-limiting, which means that they naturally resolve or resolve spontaneously over a period of years, this is not true for all individuals with Thygeson’s disease. 

This marks one of the complexities of managing a rare disease. Physicians may be unprepared to help patients navigate what their condition might mean for them. But due to the lack of insight on these diseases, it can also be difficult for people with Thygeson’s disease to get adequate information outside of doctors’ offices. As Emma explains, “There’s not a ton of available information. If there is, it’s usually very technical medical speak which is hard for the average non-medical person to understand.” 

So, for eight years, Emma waited for her Thygeson’s to go away and for this to just be a rough period of her life she had moved past. But as she got older, and the 21-year milestone got closer, she realized nothing was changing. The symptoms hadn’t faded. The flare-ups kept coming, necessitating skipping class or social events to sit quietly in the dark. 

“That was a real frustration for me for a long time,” she says. “I would go through cycles of anger that there wasn’t more information, solutions, or resources.” Then she’d pull herself out of that anger and try to accept that it is what it is. The cycle would repeat.

But there was also a bigger problem. Emma had been using steroid drops for years because they were the only thing that brought relief. Now she was past the age when she was supposed to be “cured,” still relying on medication that could cause serious damage. In the years since, she has tried several eye drops and an experimental surgery, but steroid eye drops are the only intervention which effectively manages her pain.

“I have to grapple with that: do I keep using the only thing that brings me relief with the worry it’ll lead to a serious outcome? Or do I taper down, suffer through it, and hope I won’t face some of those problems?” she asks. “I do what I can to mitigate the risk and see my specialist every six months to check my eye pressure, but when there’s little information and no cure, it’s up to me to figure out what to do.” 

The Challenges of Living Rare

Because Thygeson’s disease affects the cornea, it is not super visible. As a result, Emma has experienced people becoming confused about her condition since she looks healthy at face value. She thinks back to college, or even earlier in her career, saying, “If I had to miss class, stay home from work, or sit out of a call, I always had concerns people would think I was making it up, especially since most people haven’t heard of Thygeson’s.” 

Like many individuals in the rare disease community I’ve spoken to previously, Emma felt the pressure to explain or justify her health. Feeling misunderstood places an undue psychological and emotional burden on patients, leading to individuals with rare diseases experiencing higher rates of anxiety or depression. 

“As a recovering people pleaser, it was hard at first. I felt like I had to prove to people this was a problem I was experiencing,” she says. Luckily, she doesn’t feel this way anymore, but it weighed on her a lot. 

Another challenge was finding a community. Emma’s doctors did not know anybody else with Thygeson’s that they could connect her to, and the information she found online couldn’t answer her real questions about what daily life with Thygeson’s looks like—or what to expect in the future. 

“I sort of resigned myself to the situation being what it is,” she tells me. “I’ve dealt with this in a silo because I can’t make connections. But that’s partially why I wanted to share what I’ve gone through. My interest is broader than my specific disease. I’d love to see other people with rare conditions, whether it’s the same eye disease or not, to not experience the frustrations and isolation I’ve felt. I hope people know there are others who can go through it with you and people who are going through the same things.” 

Community has to start somewhere. Maybe it begins here, with someone willing to share their story and say: This is what it’s been like for me. Maybe it sounds familiar to you, too. Let’s do this together. 

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If you have Thygeson’s disease and are looking to connect with the Thygeson’s community, check out the Thygeson’s Disease/Superficial Punctuate Keratitis support group on Facebook. If you’d prefer to connect with rare disease groups more broadly, Rare Disease Warriors (Facebook) or the National Organization of Rare Disorders’ Members List can point you in the right direction.