The mascara wand was in her hand when she first noticed. 

It was the spring of 2019, and Katherine was a junior at Indiana University’s Kelley School of Business, deep in the final stretch of a grueling semester-long capstone project. She had been writing off weeks of fatigue, nausea (especially after drinking), stomach pain, and even bloody stool as the inevitable consequences of stress, dehydration, and late nights.

“Growing up, I was athletic. I played tennis and volleyball, and ate healthy with my family, so I was generally a healthy person,” Katherine explains. “The only thing I could think of was that I had a bad stomach every once in a while, and so did my dad and grandma, so I just chalked it up to that. Plus, when you’re younger, you don’t usually think anything can happen to you.” 

But after a fun time on spring break, followed by immersion into her project, Katherine caught a glimpse of herself in the mirror while putting on makeup. And the sight made her stop. 

Her eyes were yellow.

“I didn’t know what jaundice was. There was no medical background in my family. I just figured it was another sign of dehydration,” she says. So, at the time, she put the mascara away and went to class anyway. 

By the time Katherine traveled home for Easter with her family, and amidst rapidly worsening stomach issues, her concern about her health was growing. And before her visit home was finished, her concerns were validated. 

In her conversation with Rareatives, Katherine discusses the journey to get her autoimmune hepatitis (AIH) diagnosis, the misconceptions around autoimmune disorders, and how she’s remained resilient throughout the challenges she’s faced. 

How Easter Changed It All

Katherine has always been extremely close to her family, a fact she makes clear early in our interview: “I have two older siblings, and six nieces and nephews between the two of them. Family is very important to me.” 

So it makes sense that, while home for Easter, Katherine began speaking with her family about her health. She mentioned experiencing  severe nausea. On top of that, her parents noticed the yellowing in her eyes. 

“And together, we did something you’re never supposed to do,” she says with a laugh, “which is to look everything up on WebMD. It was not good.” 

At the same time, Katherine’s family practitioner had retired — and the week after Easter was when she would make her final presentation for IU Kelley. After careful consideration, Katherine and her family decided she could likely wait until a practitioner could get her in, and she could continue her life until that point.

The problem is that, during Easter dinner, Katherine’s condition intensified. She was shaky and deeply in pain, visible to everybody at the table. Her parents gave her no choice — Katherine was going to the emergency room so she could get answers. 

“I stayed overnight, but then the ER let me go back to school with no real answers as to what was going on,” Katherine says. She had gotten so much blood drawn for testing that the bruising wrapped around her entire arm. 

But while the tests didn’t confirm a diagnosis, they did at least point Katherine’s doctors in the right direction: her liver enzymes were majorly elevated. “From this point until diagnosis,” she shares, “we were just checking things off the list that I didn’t have.” 

After a follow-up colonoscopy and endoscopy showed nothing, Katherine was referred to a hepatologist at the University of Chicago Medicine for bloodwork and a liver biopsy. This time, the tests were not inconclusive. Her biopsy came back with fibrosis (scarring) and elevated liver enzymes. 

In May 2019, just three days before her 21st birthday, Katherine was diagnosed with autoimmune hepatitis. 

What is Autoimmune Hepatitis (AIH)? 

Autoimmune hepatitis is (as you might guess) a rare autoimmune disease that affects the liver. Normally, our immune systems defend our bodies from “foreign invaders” like viruses or bacteria by identifying and attacking these invaders. But healthy tissues are spared. In autoimmune conditions, the defense system malfunctions and attacks healthy cells and tissue instead — in this case, in the liver. Ultimately, this leads to liver inflammation that can cause serious, long-term damage over time.

There are two forms of AIH: type 1 and type 2. Type 1 AIH is the more common form and can develop in people of all ages. People with other autoimmune disorders, such as rheumatoid arthritis or ulcerative colitis, are at a greater risk of developing type 1 AIH. Type 2 AIH, on the other hand, is usually seen in children.

Frustratingly, and like many autoimmune disorders, doctors don’t know exactly what causes AIH. As Katherine succinctly puts it, “One day, my body just changed and there’s no reason or way to track why that happened.” However, as mentioned above, there are some risk factors identified. Beyond having other autoimmune disorders, risk factors for AIH include being female and being between ages 15-40.

Diagnosis is one of the most challenging aspects of AIH. There is no single clinical marker that definitively confirms it. Instead, physicians must rule out other liver diseases such as hepatitis B and C, fatty liver disease, and Wilson’s disease while looking for a constellation of signs: elevated liver enzymes, elevated immunoglobulin levels, specific autoantibodies in the blood, and, often most conclusively, a liver biopsy showing inflammation and damage. Although Katherine’s diagnostic journey was relatively quick, this process of elimination can sometimes last years for others in the AIH community.

Signs and Symptoms of AIH

Autoimmune hepatitis is a variable disease, and symptoms may appear at different severities from person to person. In fact, some people with AIH show no symptoms at all, only getting diagnosed when their test results show something is happening. For those who do display symptoms, these may include: 

• Jaundice (yellowing of the skin, eyes, and mucous membranes) 
• Joint pain
• Abdominal pain or discomfort, especially around the liver 
• Itchy skin
• Nausea and vomiting
• Appetite loss 
• Dark urine and pale stools 
• Fatigue
• Skin rashes 
• Menstrual irregularity
• Rectal bleeding

Without treatment, or as the condition worsens, individuals may develop complications such as:

• Abdominal ascites (fluid in the abdomen) 
• Esophageal varices (enlarged esophageal veins) 
• Liver failure
• Liver cancer  

Treating AIH

As such, early diagnosis and treatment can be crucial in improving outcomes. But finding the right treatment can be challenging and varies from patient to patient. Treatments may include corticosteroids or immunosuppressants, though liver transplants may be needed in cases of extreme cirrhosis.

The goal of treatment is remission, though this may not be achievable for every person with AIH. Says Katherine, “Some people go on immediate protocol medications and are in remission after one year. That’s not my situation. I have a pretty hard-to-treat case. My body gains a tolerance to the medications given to me to lower my liver enzyme levels. When I first start a medication, things go great and my liver enzymes will normalize. Then they start rising and I have to switch. I was even part of a clinical trial at some point until I had an anaphylactic reaction. You name a medication; I’ve been through them all.” 

What has worked for her is prednisone. “My body loves prednisone,” says Katherine. “I’m very prednisone dependent.” However, prednisone can come with numerous side effects ranging from weight gain and thinning hair to high blood pressure and osteoporosis.

“I would love to see research into prednisone dependency with AIH, especially within patients who are hard to treat. What causes us to respond so well to prednisone? How can we create a new drug that makes my body react like that but without the side effects of prednisone?” Katherine asks. “It’s tough because, since this is a rare disease, there’s not a lot of focus on research and treatments.” 

Coming to Terms with Her Diagnosis

After her doctors explained what AIH was, Katherine remembers being scared. Throughout the odyssey to find answers, she had rationalized that she likely had something like Celiac disease or an infection that she’d just need to treat to make it go away.

“I didn’t think I’d have a lifelong disease,” she reflects. “When you’re young, you think you’re invincible.” 

Katherine even saw another doctor for a second opinion, hoping that the answer might be different. But the visit only confirmed that she did, indeed, have AIH. 

At that point, Katherine threw herself into research. “For me, not knowing what was going on was harder than knowing,” she says. “Knowledge is power, and that’s the only control I had in that situation. For me, knowing makes me feel more at ease. I wanted to find the answers for my question marks.” 

Katherine bought books, read articles, and scoured the Internet for resources to flood herself with as much information as possible. She did her best to learn everything that she could about AIH. Still, it was discouraging when her liver enzymes were doing great then would suddenly flare. 

“I used to get a lot more emotional or hard on myself. Then I went through a time of acceptance. I realized I can read all the books I want, but it’s also important to spend time with the disease and understand how it works with my body. I don’t think I would have ever known my own body or health right now if I wasn’t diagnosed,” Katherine shares. 

Remaining Resilient

Katherine has made it her mission to track her health changes and what might be associated with flares. She explains, “I can control when I get my labs done, what I eat, my exercise, and my diet — I’ve tried autoimmune, gluten-free, animal-based, and sugar-free diets. Whenever I do these, I get labs done constantly to compare data. I don’t like to change two variables at once, just so I know what the impact of each variable is.” 

Part of becoming more comfortable with flare-ups, in addition to learning more about her body, is also her support system. Her father keeps a separate spreadsheet logging every lab result, every medication change, every shift in her numbers since her diagnosis. It is, she says, one of the most meaningful things anyone has ever done for her. With a laugh, she adds, “I guess that’s where I get my love of data.” 

Even when the labs don’t come back as planned, Katherine takes a step back and gives herself a moment to process, to let herself feel the momentary sting of a disease that has a mind of its own. She calls her husband — they just got married this past November — or her mom or her dad, and waits until her heart rate slows. It’s then, she says, that she can tell herself, “I’m fine. I hope my labs will eventually adjust. This is just the nature of the disease for me.”

Rare disease diagnoses, and the challenges that come along with them, can be psychologically and emotionally tough. Unfortunately, many people sometimes struggle to talk about their feelings with loved ones, believing that they must be “strong” or that sharing the difficulties of their disease makes them burdensome.

But wasn’t true in her case, says Katherine: “You have a severe, rare liver disease. This is out of your control to a pretty high extent. It is so normal to be upset or sad or to mourn your past, your healthy life, your pre-diagnosis life. To wish for normal health. It’s okay that you want to talk about what you’re going through with the people you’re close to, the people you trust. And if they’re the right people, they’re going to listen to you. They may not always understand, but it is so much better than bottling it up or getting mad at yourself like you’re doing something that’s causing this. You didn’t do this to yourself. Don’t blame yourself.” 

Chasing More Answers

Although data has been helpful in tracking her disease progression and management, there are aspects of living with AIH that data cannot yet define. Katherine is not someone who waits passively. But she is acutely aware of how difficult it can be to find answers when little research exists for patients like her.

For example, Katherine has always known she wanted a family one day. When she was diagnosed at just twenty years old, one of her first questions was whether she would be able to have children. She explains, “I wanted to know what the chances were, for someone with AIH or liver disease, of having a successful pregnancy and a healthy baby.” 

The doctor didn’t answer the question. Instead, Katherine was told to not worry about it, that they would figure it out if and when she got to that point. But for women with AIH who want to have children, the questions around pregnancy are not peripheral. Being brushed off hurts, and even more so when the questions hinge on a part of someone’s identity they always imagined having. Finding answers about something so important can shape how someone understands their future and options. 

According to the American Medical Women’s Association, “Women with rare diseases face unique challenges — from delayed diagnoses and limited treatment options to barriers in reproductive care and economic hardship. Bias in medicine, underrepresentation in research, and the complexities of managing rare conditions can leave many women feeling unheard and unsupported.”

What Katherine was asking for was to be seen as a complete person with specific future interests, not just a set of liver enzyme numbers. And, hopefully, we’ll reach a point in research where she can get better guidance on what having children might look like. 

Fighting the Stigma

The word “hepatitis” comes with a stigma. When many people think of hepatitis, that refers to liver inflammation, they think about types B and C — two viral forms of hepatitis. According to an article from the Coalition for Global Hepatitis Elimination, gastroenterologist Dr. Clive Miranda explained that misinformation around hepatitis B and C, and how it is spread, fuel intense stigma: 

From the general public’s perspective, hepatitis B and C are linked to drug users or to those that make questionable societal decisions. As a result, patients infected with hep B and hep C are associated with poor socioeconomic status, poor medical (and general) literacy, and chronic substance users that live in an endless cycle of relapsing.

2024 research published in BMC Public Health also shared another perspective of the stigma, citing limited knowledge on transmission routes and perspective strategies, as well as “society’s negative perception of sex and sexual health,” given that certain types of hepatitis are spread through infected blood or bodily fluids. However, the stigma often prevents people from seeking help and isolates them from their communities, with many people mistakenly viewing people with hepatitis as contagious or unclean. If you have hepatitis and are looking for support groups, you can find them for hepatitis B and for hepatitis C.

Although autoimmune hepatitis and hepatitis B and C are different in nature, many people misconstrue Katherine’s condition due to preconceived notions about what hepatitis means. “I was so oblivious to this part of having autoimmune hepatitis,” says Katherine. “When people hear hepatitis, they immediately think of something else.” 

Katherine learned more about the stigma after starting an Instagram account where she posted liver-friendly recipes and parts of her diagnostic journey. She remembers her frantic post-diagnosis Googling, noting, “I wanted so badly to find someone else who shared my experience. I found one or two YouTube videos, but not people with my phenotype.” Her Instagram became the resource she wishes had existed for herself. 

People began reaching out: other young women with AIH, parents whose children were newly diagnosed, people receiving biopsies. Then one woman her age mentioned she had wanted to create a similar Instagram page. When Katherine asked why she didn’t, the woman explained that her parents didn’t want people to think she had hepatitis.

“I’ve realized that so many people misconstrue what AIH is,” she says, “which makes education more important than ever. Whenever I explain AIH to someone, I say, ‘This is an autoimmune disease that attacks my liver. We don’t know why I have it.’ I’m an open book. By opening with the definition, and answering questions, it turns into a conversation.”

Invisible Illnesses and Misunderstanding

Not only is she spreading correct, accurate information about AIH, but she’s also discussing people’s mistaken beliefs and dispelling them at the same time. But while she’s dealt with one extreme — the stigma around “hepatitis” — she’s also dealt with another misconception on the opposite end of the spectrum: that her AIH isn’t that serious. 

“When I was first diagnosed, a lot of people questioned the severity. Several people would say, ‘It’s not that serious, it’s just an autoimmune disease. You really can’t have a sip of alcohol? You’re being overdramatic.’ It was frustrating to have to validate myself, especially to people who knew me well.” 

Chronic illnesses and autoimmune disorders where symptoms may not be outwardly visible — for example, by addressing her jaundice, Katherine looks relatively healthy; she can also run three miles or more a day, leading to people attributing positive health — are commonly misunderstood by both the general public and practitioners. Known as “invisible illnesses,” people are fighting internal battles that are still serious, even if other people can’t physically see them. 

“Every patient has different side effects, medication reactions, and things their body can do,” says Katherine. “When you’re in the world of autoimmune diseases, you understand that. But from an outsider perspective, it’s easy to say, ‘Okay, this person looks fine’ or ‘I knew someone with an autoimmune condition who was okay, so this other person must be okay, too.’ But I’ve talked to some people who have stable labs but are fatigued during the day, while my labs can be terrible and I still feel ‘normal.’”

Becoming an Advocate

Throughout her experiences, Katherine has relied on the warmth and resources of the Autoimmune Hepatitis Association, a 501(c)(3) nonprofit organization with a mission of providing support and hope to patients and families affected by autoimmune hepatitis through disease education and research opportunities. What sets the AiHA apart, in her view, is that the organization is genuinely committed to bringing together doctors and patients in the same room.

“They care so much about the patient experience,” Katherine tells me. “It can be rare to have doctors who want to hear from patients, but the AiHA not only gets doctors and patients together, but patients and patients as well. Everyone I’ve met is so incredible. And every year, there’s new interest in autoimmune hepatitis because of AiHA and the time being put towards AIH. Hopefully, in 20 or 30 years, there’s something that could treat even hard-to-treat patients. AiHA is the organization that’ll do it — I’d put my money on that.” 

The more she has worked with the AiHA, and the more she has spoken with people on her own, the more Katherine’s commitment to advocacy and awareness has grown. Katherine has AIH: severe, hard to treat, and something that she grapples with every day. But she also has a husband, a corgi named Cash, a new house, and a community of people behind her.

She has built, around her AIH, an extraordinarily full life — one data point and conversation at a time. Now, by sharing her niche experience, she hopes that she can give others hope and comfort for their futures, as well as more data and research for doctors. She urges others, if they’re comfortable, to do the same. To speak up and share their stories. 

One story at a time, we can change the AIH landscape.

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If you or someone you love has been diagnosed with autoimmune hepatitis, the Autoimmune Hepatitis Association offers resources, community, and connections to specialists. To share your own rare disease story with Rareatives, visit rareatives.com.