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</div> </div> </header> <div id="content" class="wrapper"> <div class="section section-blog-single"> <div class="container"> <div class="row"> <div class="col-lg-8"> <div class="blog-single"> <div class="blog-single__meta"> <div class="blog-single__details"> <div class="blog-single__date meta"> <time datetime="2024-11-12T18:42:32-05:00" itemprop="datePublished">November 12, 2024</time> </div> <div class="blog-single__like meta"> <a class="aarda-love" href="#" data-id="11400"> <span class="aarda-love-icon"> <svg aria-hidden="true" data-prefix="fas" data-icon="heart" width="15" height="15" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M462.3 62.6C407.5 15.9 326 24.3 275.7 76.2L256 96.5l-19.7-20.3C186.1 24.3 104.5 15.9 49.7 62.6c-62.8 53.6-66.1 149.8-9.9 207.9l193.5 199.8c12.5 12.9 32.8 12.9 45.3 0l193.5-199.8c56.3-58.1 53-154.3-9.8-207.9z"/></svg> </span> <span class="aarda-love-count">1</span> </a> </div> </div> <div class="blog-single__socials 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data-url="https://www.linkedin.com/cws/share?url=https%3A%2F%2Fautoimmune.org%2Ffacing-a-rare-autoimmune-lung-disease-a-battle-for-breath%2F"><span>LinkedIn</span></a></div></div> </div> </div> <div class="blog-single__header is-rounded has-shadow"> <div class="blog-single__header-title"> <h1>Facing a Rare Autoimmune Lung Disease: A Battle for Breath</h1> </div> </div> <div class="blog-single__category"> <ul class="post-categories"> <li><a href="https://autoimmune.org/category/autoimmune-heroes/" rel="category tag">Autoimmune Heroes</a></li> <li><a href="https://autoimmune.org/category/featured-posts/" rel="category tag">Featured Posts</a></li> <li><a href="https://autoimmune.org/category/general-autoimmune/" rel="category tag">General Autoimmune</a></li></ul> </div> <div class="blog-single__content section__content"> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Leah Edwards was just 29 years old when her life took an unexpected and frightening turn. Growing up healthy in a small southern town, Leah had never experienced serious illness before. But when she came down with pneumonia, she quickly realized something was wrong. Her symptoms—difficulty breathing, shortness of breath, and chest pain—worsened rapidly. In a matter of days, Leah found herself repeatedly visiting the local emergency room. Despite her complaints, doctors prescribed antibiotics that didn’t help. Worse, they suggested she was having panic attacks. Leah knew in her heart this wasn’t the case, but her concerns were dismissed time and again.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Frustrated and still unwell, Leah made her way to a larger hospital farther from home. It was here, after weeks of uncertainty, that a team of specialists finally took her symptoms seriously. They assured her that they wouldn’t let her go until they got to the bottom of what was wrong. Three long months and multiple tests later, Leah received a diagnosis: <a href="https://autoimmune.org/disease-information/autoimmune-pulmonary-alveolar-proteinosis-apap/" target="_blank" rel="noopener">Autoimmune Pulmonary Alveolar Proteinosis (aPAP)</a>. The news was crushing. She was told she would likely need to rely on supplemental oxygen for the rest of her life.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;"><img fetchpriority="high" decoding="async" class="alignleft wp-image-11402 size-medium" title="Leah" src="https://autoimmune.org/wp-content/uploads/2024/11/Leah-2-300x225.jpg" alt="Leah" width="300" height="225" srcset="https://autoimmune.org/wp-content/uploads/2024/11/Leah-2-300x225.jpg 300w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-2-1024x769.jpg 1024w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-2-768x577.jpg 768w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-2-1536x1154.jpg 1536w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-2-2048x1539.jpg 2048w" sizes="(max-width: 300px) 100vw, 300px" />But Leah didn’t give up. She leaned on her faith, family, and her husband, adopting the personal mantra, “I’m strong enough to keep fighting.” It wasn’t just the physical toll she had to overcome, but the emotional, mental, and financial strain of living with a chronic disease. The road ahead would be tough, but Leah was determined to face it head-on.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Autoimmune Pulmonary Alveolar Proteinosis (aPAP) is a rare and complex lung disease caused by a malfunction of the immune system. Specifically, it involves the production of antibodies that block a protein called granulocyte-macrophage colony stimulating factor (GM-CSF). In healthy people, this protein regulates lung function by ensuring surfactant—a natural substance that lubricates the lungs—remains balanced. But in those with aPAP, surfactant builds up excessively, making it increasingly difficult to breathe. Symptoms can range from mild to severe, including chronic coughing, shortness of breath, chest pain, fatigue, and low blood oxygen levels.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Diagnosing aPAP is notoriously challenging because the symptoms are often non-specific and vary greatly from patient to patient. For some, the disease may be relatively asymptomatic, while others, like Leah, find their lives completely altered. With fewer than 5,000 known cases in the U.S., aPAP is extremely rare. For many patients, the journey to diagnosis is long and fraught with misdiagnosis, averaging 18 months from symptoms to diagnosis, and requiring referrals to specialists well-versed in rare lung diseases.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Because aPAP is so rare, many doctors may have never diagnosed or treated it before, and many doctors may suggest invasive tests that could require hospitalization, such as bronchoscopy or a lung biopsy, like Leah experienced. These tests do not provide a definitive diagnosis of aPAP. Savara Inc. is a pharmaceutical company focused on developing an experimental therapy, currently in clinical trials, for people with aPAP. As part of their commitment to the patient community and to hopefully shorten the time to and burden of diagnosis, Savara introduced </span><a href="https://apapclearpath.com/" target="_blank" rel="noopener"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">aPAP ClearPath<sup>TM</sup></span></a><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">, a simple, no-cost, and non-invasive blood test that detects the autoantibodies that cause aPAP. Patients now have access to a single test that will help confirm or rule out aPAP.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">In Leah’s case, the diagnosis was just the beginning of a long battle. Over the last seven years, she has undergone more than 50 procedures, primarily lung lavages. These procedures, designed to wash out the excess surfactant from her lungs, provide temporary relief but have not led to long-term improvement. Despite this, Leah approaches each hospital visit with humor and positivity. She’s known for showing up in playful costumes, often bringing snacks for her care team. Her bright, goofy nature lifts the spirits of everyone around her—even in the most difficult moments.<img decoding="async" class="alignright size-medium wp-image-11401 lazyload" title="Leah" data-src="https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-225x300.jpg" alt="Leah" width="225" height="300" data-srcset="https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-225x300.jpg 225w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-768x1024.jpg 768w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-1152x1536.jpg 1152w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-1536x2048.jpg 1536w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-scaled.jpg 1920w" data-sizes="(max-width: 225px) 100vw, 225px" src="data:image/gif;base64,R0lGODlhAQABAAAAACH5BAEKAAEALAAAAAABAAEAAAICTAEAOw==" style="--smush-placeholder-width: 225px; --smush-placeholder-aspect-ratio: 225/300;" /><noscript><img decoding="async" class="alignright size-medium wp-image-11401" title="Leah" src="https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-225x300.jpg" alt="Leah" width="225" height="300" srcset="https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-225x300.jpg 225w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-768x1024.jpg 768w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-1152x1536.jpg 1152w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-1536x2048.jpg 1536w, https://autoimmune.org/wp-content/uploads/2024/11/Leah-1-scaled.jpg 1920w" sizes="(max-width: 225px) 100vw, 225px" /></noscript></span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Leah describes living with aPAP as being in a constant fight to breathe. “The hardest part about living with this disease is that my lungs tighten to a point where it can feel impossible to breathe,” she shares. “When I get ‘regular’ sick, my doctors aren’t always able to tell me which symptoms are from the infection, and which are from my lung disease.” Leah has had to become an expert in her own condition, working alongside her medical team to manage her health.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Today, Leah’s condition has improved to the point where she only needs supplemental oxygen overnight, not throughout the day. She still has her ups and downs, but she remains grateful for every milestone she achieves. Recently, Leah and her husband received approval to begin the adoption process, a dream come true for the couple. After everything they’ve been through, their love and commitment to each other has only deepened, and they look forward to expanding their family.</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">To others going through the challenges of diagnosis and life with aPAP, Leah offers this advice: “Rely on your faith if that resonates with you. Don’t take every doctor’s suggestion—adapt what works best for you. Seek additional opinions if something doesn’t feel right. Learn how to adjust your life around it. Find humor wherever you can. Journal, write, or find some way to release your feelings. You have this disease, and it’s not going away, so you have to learn how to live your best life with it.”</span></p> <p style="line-height: 115%;"><span style="font-size: 11.0pt; line-height: 115%; font-family: 'Arial',sans-serif;">Leah’s strength, determination, and lighthearted approach serve as an inspiration to anyone facing a difficult diagnosis. 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Yard Pong</a> </h3> <div class="card__meta"> <div class="card__meta-date meta"> <time datetime="2024-10-03T10:10:37-04:00" itemprop="datePublished">October 3, 2024</time> </div> <div class="card__meta-category meta"> <a href="https://autoimmune.org/category/autoimmune-heroes/" title="Autoimmune Heroes"> Autoimmune Heroes </a> </div> </div> <div class="card__content"> In 2011, Jen and Nick Szupowal established a charity event in their hometown in Pennsylvania centered around Yard Pong, a giant outdoor version... </div> <div class="card__more"> <a class="link-arrow" href="https://autoimmune.org/raising-hope-yard-pong/" aria-label="Link"> Learn More <svg xmlns="http://www.w3.org/2000/svg" width="7.971" height="14.365"><path d="M1.414 12.951l5.251-5.056a1 1 0 000-1.442L1.414 1.414" fill="none" stroke="currentColor" stroke-linecap="round" stroke-miterlimit="10" stroke-width="2"/></svg> </a> </div> </div> </div> <div class="col-12 col-md-6 col-lg-3"> <div class="card"> <a 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Council High school and college can be challenging for any student,... </div> <div class="card__more"> <a class="link-arrow" href="https://autoimmune.org/resources-and-strategies-for-managing-high-school-and-college-with-autoimmune-disease/" aria-label="Link"> Learn More <svg xmlns="http://www.w3.org/2000/svg" width="7.971" height="14.365"><path d="M1.414 12.951l5.251-5.056a1 1 0 000-1.442L1.414 1.414" fill="none" stroke="currentColor" stroke-linecap="round" stroke-miterlimit="10" stroke-width="2"/></svg> </a> </div> </div> </div> </div> </div> </div> <section class="section section-cta callout"> <div class="container"> <div class="callout__inner"> <h2 class="callout__title">Find more resources on autoimmunity</h2> <div class="callout__body"><p>Learn more about autoimmunity, diagnosis tips, how to find a physician, and more.</p> </div> <div class="callout__button"> <a class="btn btn-pink btn-pink--long" aria-label="Link" href="https://autoimmune.org/resource-center/" target=""> Learn 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