Interview with a Woman Living with aPAP

January of 1993 was the first time I heard the words autoimmune pulmonary alveolar proteinosis. Given that it’s a rare disease, my doctors had no experience with it either.

It all began in late 1992 with a scratchy throat that eventually turned into a debilitating cough. Unlike many other people with aPAP I did not initially have shortness of breath. I simply couldn’t relieve the irritation and had a constant need to clear my throat. Originally, I was diagnosed with tracheitis [an infection of your trachea caused by bacteria] and prescribed antibiotics—which didn’t help. I wasn’t getting better. After a battery of tests that included a non-diagnosable bronchoscopy with transbronchial biopsy, x-rays, and CAT scans, doctors found a “black mass” on my lungs and I was referred to a pulmonologist. My immediate thought was that I had cancer. While the pulmonologist was able to determine that I didn’t have cancer, he was not able to diagnose what I did have nor could he tell me why my symptoms persisted.

In January 1993, exhausted and still coughing I underwent an invasive procedure called an open lung biopsy. In case there’s any doubt, this is not a fun procedure. A thoracic surgeon made an incision under my right breast and cut through my rib cage and muscle to extract a tissue sample from my lower right lung. Recovery was grueling. Even the slightest of movement hurt and I was coughing incessantly. However, my pulmonologist now had the information he needed to render a diagnosis of aPAP. I was then informed of the prognosis: I would only live to be 45 years of age. Equally frustrating was the idiopathic nature of the disease. My doctor couldn’t tell my why or how I contracted aPAP; to this day no one can.

At the time of diagnosis, I was 27 years old and it came as quite a shock. Up until that point, I had been in good health. In such good health, I was able to live my life as an active athlete and adventurer. However, in a few short months, my world turned upside down. My new goal was no longer to climb the next highest peak, it was to live life beyond 45 years of age.

Still healing from my lung biopsy, I underwent another invasive procedure called whole lung lavage. This first lavage was done in a small New York hospital in January 1993 (over the lifetime of my disease I’ve had six bilateral lavages, which is not as many as most aPAP patients) and was performed by an operating team that had absolutely no prior experience with this kind of surgery. They were researching and learning as they went. It’s not very comforting going into a major and complicated procedure feeling like a guinea pig.

A bilateral lavage is a two-part procedure performed under general anesthesia and focuses on one lung at a time. My right side was first. One doctor filled my lung with a special saline solution and then a team of respiratory therapists beat, or percussed, my lung to wash out the excess protein [aPAP is caused by the build-up of excess surfactant (a protein) in the small airways of the lungs]. This was then repeated many times over the course of the eight-hour procedure. I woke up groggy, sore and, literally, black and blue from the percussing. The next two days were spent in the hospital recovering. One week later, I did it all over again for the left lung. To say the least, it hurt.

Whole lung lavages have improved a bit since then. For example, some centers now use vibrating vests for the percussing (versus being manually beaten on). But they certainly aren’t without risk and are procedures that I tried to put off as long as possible. During one of my lavages, my lung collapsed. I went into respiratory failure and nearly died. I spent two weeks in the hospital recovering, only to have to redo the procedure. The damage was done though, and my right lung was never the same. I developed severe scar tissue and was in constant discomfort for 16 years…until I had a lung transplant.

In 2004, I needed another whole lung lavage (it seemed as though I required one every four years or so). This lavage was significantly more successful than the last, as I was referred to a pulmonology specialist who had devised a special vibrating vest that patients wear during the lavage to help loosen the protein in the alveoli [air sacs]. By this time, the procedure had been perfected and only required a few hours under anesthesia (versus eight). I was also diagnosed with MAC [a lung infection called Mycobacterium avium complex]. That’s when I was introduced to off-label inhaled GM-CSF [granulocyte macrophage-colony stimulating factor, a small protein that removes excess surfactant from the lungs, among other things] and was also on a year-long cocktail of antibiotics to eradicate the infection. (I’ve since learned that GM-CSF may take care of MAC too and used it again in 2014 to treat another MAC infection.) After nearly 12 months on this regimen, I was doing so well that I came off all my medication. That didn’t last.

Over the next six years I contracted numerous infections, including bouts of pneumonia. Thankfully, I later had the vibrating vest to help with percussion to loosen the mucus. The coughing attacks, lasting anywhere from 20-30 minutes, became so violent that I would have to excuse myself from the room. I could no longer speak for any duration of time without coughing or having trouble catching my breath. In 2011, I resumed the off-label inhaled GM-CSF and stayed on it for nearly half a decade.

Fast-forward to 2014: My lungs experienced a rapid decline and I was now on oxygen at home and transporting with O2 tanks. I underwent what would be my last two whole lung lavages in 2014 and 2015 as we found out that the procedure was no longer as effective―based, most likely, on a component of fibrosis (scar tissue) and the development of bronchiectasis (possibly from the MAC infections and pneumonia). My lungs weren’t looking good and I was told that in 12-16 months I would be in real trouble―my lung function was close to 20% and the violent coughing episodes continued. That’s when I got serious about a lung transplant. After a lot of research, a lot of paperwork and a lot of education, the doctor’s at Duke performed my lung transplant in September 2016 and it’s the closest to normal―my new normal―that I’ve felt in years. No coughing, no symptoms.

My team of doctors weren’t sure if aPAP would return after the successful lung transplant, so I was closely monitored. In August of 2017, the first signs of its return were detected via x-rays and CAT scans. In April 2018, I started on off-label GM-CSF again and have been on it ever since in increasing doses.

Despite the lack of advancements in treating the disease, the formation of an aPAP community is something that has evolved since I was diagnosed in 1992. For years after diagnosis, I never spoke with another aPAP patient. In fact, it wasn’t until 12 years after I was diagnosed that I met another person living with the same disease. At the time, the internet was not around to help connect patients or build online communities. I spent my time alone in the library reading everything I could get my hands on that would help me understand aPAP. I felt extremely isolated and alone. While it’s still a work in progress and there’s a lot more to be done, things have progressed in this regard. An aPAP patient registry is being created through the work of the PAP Foundation and Savara, and I’m dedicating my time to connecting patients through my work as the Florida State Ambassador for the PAP Foundation. The PAP Foundation is working hard to build a support network of state ambassadors in the U.S. to help the foundation promote research on aPAP and provide information and support for patients.

Before being diagnosed, I was an athlete with high levels of energy and endurance. I was also happy-go-lucky―a real wanderlust who loved adventure. After diagnosis, that all changed. Life became intense. I’m no longer able to make snap decisions or “shoot-from-the-hip.” All decisions must be weighed against how they could impact my limitations. This was, and is, painful to accept. For as long as possible, I hid my disease because I didn’t want to be labeled as “sick.” I simply told people I had asthma. However, the demands of my corporate job (both the work hours and the required travel) became unsustainable so I moved back home to be closer to my family where I could settle down, quiet down, and maintain a better quality of life.

I now dedicate my time to helping other people living with aPAP. Over the years, I’ve been involved with an online support group. And I now have a close circle of friends with the disease, as well as a network of scientists, doctors, and nurses that all want to further our understanding of aPAP and how best to treat it. Unlike when I was first diagnosed and had nowhere to go for support, I can now pick up the phone and call the leading doctors in aPAP. However, this kind of access and assistance is extremely unique. Typically, people living with aPAP are scared to death. They feel isolated and don’t know where to turn for help. I want to change that. Through my work with the PAP Foundation I am a vocal advocate pushing for more research on the disease, with the goal of one day finding a cure and improving the lives of patients. People living with aPAP don’t need to go through it alone! Connecting and mobilizing the aPAP community has become a tremendous priority in my life.

As I mentioned, I’m currently on off-label inhaled GM-CSF and I believe it’s slowed down the disease. I’d like to see an FDA-approved drug for aPAP and a more standardized treatment protocol for patients and the medical community. Better awareness for the disease within the medical community is important too. Many pulmonologists have never even heard of aPAP. In fact, some pulmonologists ask me for resources and referrals to help them become a more informed aPAP expert. Living with such a rare disease is extremely challenging. Patients are terrified that the healthcare community won’t find a cure or an approved treatment. Ultimately, we all want a therapy to be approved for the treatment of aPAP―we want something just for us.