Karli’s Journey: Autoimmune Pulmonary Alveolar Proteinosis

Key Takeaways

• Karli spent three years navigating worsening symptoms and was misdiagnosed several times before finally learning that she had autoimmune pulmonary alveolar proteinosis (aPAP).
• While living with aPAP, Karli has faced many challenges, including the need to educate healthcare providers and insurance barriers. 
• In response to her diagnosis and the road bumps she faced along the way, Karli shifted her career path to physical therapy, enabling her to help others figure out what is ailing them and then address it.
• Even when things aren’t perfect, Karli has learned to appreciate every moment, and she wants others to achieve the same mindset by finding community, educating themselves, and advocating for their needs.

A Long Road to an Accurate Diagnosis

Gasping for air can be a terrifying feeling, especially when you don’t know the cause.

Karli started experiencing shortness of breath and a worrisome cough at age 18. Initially, she thought it was a respiratory infection like bronchitis, and her pediatrician had similar thoughts. She was tested for diseases like whooping cough and asthma and was prescribed antibiotics and steroids with the expectation that she would improve within a couple of weeks. Unfortunately, she didn’t; in fact, as time went on, she felt worse.

Little did Karli know that this was only the beginning of a long and exhausting journey through the healthcare system, one that would constitute the scariest years of her life. Karli went from thinking she had asthma or allergies to getting misdiagnosed with laryngopharyngeal reflux and eosinophilic esophagitis. At one point, she even saw an ear, nose, and throat (ENT) doctor who suspected she had vocal cord dysfunction.

She blindly battled symptoms for a span of three years, was treated for diseases she didn’t have, and saw nine different providers before getting a diagnosis for an autoimmune disease.

Dealing with Debilitating Symptoms and Medical Dismissal

Prior to getting an accurate diagnosis, Karli’s condition progressively deteriorated. She experienced an uptick of frightening episodes where it felt like she couldn’t get enough air. In addition to struggling to breathe and coughing until she gagged, she lost 30 pounds over the course of a year.

Still, one of the worst parts was the disconnect between how she felt and how she appeared. On the outside, she didn’t always look as sick as she felt. And because of that, her symptoms were often minimized or misunderstood by the people around her. 

Many healthcare providers failed to grasp the severity of what Karli was experiencing. Sadly, this kind of medical dismissal is not uncommon for people with rare or complex conditions, especially when symptoms don’t fit neatly into familiar patterns.

Eventually, after multiple dead ends, Karli decided to temporarily stop looking for the root of her problem.

Arranging Tests with the Right Specialist

After pausing her search for a while, Karli got a gut feeling that she needed to find a new pulmonologist. She thoroughly researched providers in the area and then promptly scheduled an appointment with a new doctor. Although she had seen pulmonology providers in the past, this time things were different.

From the very first visit, the pulmonologist took her symptoms seriously. He ordered pulmonary function testing and imaging that same day. The results were striking: her oxygen diffusion capacity, which reflects how well oxygen moves from the lungs into the bloodstream, was calculated to be only 43%—well below normal levels. Plus, her chest X-rays showed abnormal cloudiness. 

A follow-up CT scan confirmed that something was clearly wrong. Shortly after, she got scheduled for an urgent follow-up appointment and underwent a bronchoscopy, a procedure that allows doctors to examine airways and collect samples from the lungs. It was through this test that she finally received an initial diagnosis: autoimmune pulmonary alveolar proteinosis (aPAP), which was eventually confirmed by a specific autoantibody blood test.

Living with a Rare and Complex Autoimmune Lung Disease

Karli was in a unique position, as autoimmune pulmonary alveolar proteinosis is a rare and complex condition that affects the lungs in a very specific way. It predominantly impairs the function of alveolar macrophages, a type of white blood cell, which are essential for clearing debris and surfactant from the lungs, ensuring appropriate movement of oxygen from the lungs to the bloodstream. 

The Impact of aPAP on the Lungs

The table below shows aPAP’s impact on specific alveolar functions:

Being Immunocompromised

When a person has aPAP, the immune system produces autoantibodies that interfere with macrophage function, effectively weakening part of the body’s defense system. This means that Karli is not only dealing with lung dysfunction; she is also more vulnerable to infections, further complicating care. For instance, treatments that are commonly used for other respiratory conditions, such as steroids, can make aPAP worse.

Because the disease is so rare and its symptoms are so common with other respiratory diseases, many healthcare providers are unfamiliar with it. Karli has often found herself explaining the condition to doctors when seeking treatment for even routine illnesses.

Karli is a living testament to the importance of self-advocacy. For patients facing a rare autoimmune disease like Karli or Leah Edwards, understanding their condition is essential.

The Impact on College and Her Future

While navigating her symptoms and looking for a diagnosis, Karli was also trying to live her life as a college student. The physical toll of aPAP made even basic daily activities exhausting, considering Karli’s body was working overtime just to breathe. 

By the time she walked from the parking lot to class, she already felt depleted. When she got home, studying was particularly challenging because fatigue made it hard to stay awake, and brain fog and headaches made it difficult to concentrate or retain information.

The Social Ramifications of aPAP

Karli was also impacted by aPAP socially. Everyday actions, such as talking and laughing, often triggered her symptoms, so she avoided situations that required extended conversation in college. She didn’t join clubs or spend time on campus beyond what was absolutely necessary. She would even notice other students moving away from her because of her constant coughing in some classes.

As a result, she missed out on experiences that many people consider foundational in college, such as:

• Building friendships
• Dating
• Participating in campus life

Despite these challenges, she persevered. She graduated cum laude from an honors college and completed an honors thesis. This achievement speaks not only to her academic ability but to her determination in the face of extraordinary circumstances.

The Impact aPAP Had on Karli’s Career

Karli’s experience with aPAP also reshaped her future. She was originally on a pre-med track, but she began to reconsider her path after interactions with the healthcare system left her feeling disillusioned with certain aspects of medical care. Her personal experience gave her a deep understanding of what patients truly need: guidance, empathy, and support throughout their journey.

This led Karli to pursue a career in physical therapy, a field where she could help people improve their quality of life in tangible, meaningful ways. This new path fulfilled her interest in medicine while being far enough removed from her own medical situation. 

Working Through the Logistics of a New Treatment Plan

Every few months, Karli still travels across the country to receive investigational treatment through an expanded access program (EAP) and attend required appointments with her care team. 

Despite having to travel for her care, Karli remains grateful to have access to investigational treatment at all. Her experience highlights a broader issue faced by many people with rare autoimmune conditions: access to investigational treatment is not guaranteed, and maintaining care often requires persistence and support. 

The Autoimmune Association champions patient-first policies to improve access to care for people like Karli. If you are interested, you can become an advocate by joining our team of volunteers to help bring about the change our medical system needs. 

Community, Advocacy, and Moving Forward

Through it all, one of the most important sources of Karli’s strength has been connection. Finding other patients who understand her experience has made a meaningful difference. Building a care team with expertise in her condition has also been key to getting the specialized knowledge she needs to navigate a disease as complex as aPAP.

Karli encourages anyone in similar shoes to find community among those who understand their experience, as this can provide both emotional support and practical guidance. She also wants them to review educational resources to deepen their understanding of their autoimmune condition and advocate for their quality of life, as each individual knows their own body better than anyone else. So, if something doesn’t feel right, speak up, and if you believe more can be done, pursue it. 

The Autoimmune Association offers resources for patient support and opportunities to connect with others navigating autoimmune diseases like aPAP. Our team aims to raise awareness, support research, and empower patients. Learn more about us here.