If you have these common respiratory symptoms and are struggling to find an accurate diagnosis, you’re probably feeling confused and frustrated.

You realize your vulnerability.

You realize the delicacy of life.

You realize, that, you're not invincible.

I am Niki and I'm living with autoimmune pulmonary alveolar proteinosis.

My hobbies that I enjoy doing generally tend to be sports related.

I played, uh, softball for 26 years since I was eight.

It has now evolved into more adult sports like kayaking and standup paddling.

And I do like paddle sports, so I tried some pickleball and tennis.

I was very, very active, which is, you know, why when I, uh, became sick, it was quite kind of an identity crisis because it was like, what do I do now?

My journey, uh, to getting to diagnosis, uh, wasn't as long as some, I started noticing some slight shortness of breath, and I started getting a tickle in my throat.

I was coughing and it was getting worse.

I did an X-ray, and, uh, I got a phone call at work saying that they see something, there's a mass, you need to see a specialist, to go to a pulmonologist.

The specialist pulmonologist recommended having a bronchoscopy as the next step after looking at my X-ray.

It was inconclusive. He still didn't know what it was.

It was something that he could tell what it was gonna be if he did an open lung biopsy.

That's when I found out that I had alveolar proteinosis.

The testing has been crucial, compared to what I had back in the early nineties when it was open lung biopsy. Trust me, you don't want to go through that process to be diagnosed.

The pulmonologist then told me about the only treatment that he knew of at the time was, uh, a whole lung lavage, and that he was interested in doing this procedure.

He had never done it before. Talk about being very, um, apprehensive. Um, it was an known disease.

At that time, a whole long lavage was eight hours under anesthesia.

They did one lung at a time, one week apart.

They literally drown one lung with sa- saline solution while you're breathing with the other one to wash out all the protein that's in your lungs.

And while that's happening, they have a team of respiratory therapists that are in the operating room doing percussion on you, and you don't real, you're under anesthesia.

You don't know what's happening.

But when I woke up, I knew what was happening because I was black and blue.

They got a lot out, and it was a successful lavage. Um, but I didn't wanna do that again.

It was a very, uh, difficult, you know, procedure at that time.

And then I went back to playing sports until the symptoms started up again.

The protein buildup wasn't as fast for me. So, I knew, and sometimes I would let it get too far before doing something because I was busy, you know?

And that is the, the single most regrettable thing that I wish that I knew then what I know now, because I didn't know I was hurting myself then.

I started, uh, getting sicker, uh, so that I needed to go back on oxygen.

I couldn't be without it at this point. Um, my local doctor mentioned to me that, uh, I should look into transplant.

That's when I was in somewhat denial. I, you know, was determined to have one more lavage to see if it would work, and it didn't.

So, when I was out there, that was the second doctor that told me that I needed to consider a transplant.

I started researching and, and apparently, I needed it pretty quickly.

I dropped everything and took a leave of absence and, uh, went to the best, uh, transplant institution.

And, um, I was very fortunate enough to receive, um, a really wonderful pair of donor lungs.

I made changes and I adapted in my life to, uh, to adapt to the disease and still live a successful, thriving life.

But there were so many things out of my control too.

Less than a year after my transplant, my, uh, lung disease came back. PAP has returned.

I can't do a lot of the things that I used to do.

I'm getting more and more short of breath.

The lifestyle has completely changed.

I, I say no a lot more now. Uh, I think about things a lot more now and weigh the risks and, you know, should I travel and do this, you know, or do I need to rest?

And, you know, that doesn't, I doesn't come natural to me cause it's not who I am.

I still am hopeful about my future of travel and quieter more content times.

I will, uh, continue to keep that hope and keep, uh, advocating that hope.

Um, there's no other recourse for me.

I've had a lot of people look at me like, what? You have a rare disease and they just can't believe it.

My name is Eric and I'm living with autoimmune pulmonary alveolar proteinosis.

After college, I realized that I'm not very good at sitting down very long. So, I needed a job where I could be mobile and sales was the answer.

I sell flooring to architects and interior designers.

My current hobbies are woodworking, my kids sports, and working out.

My two kids, a 14-year-old boy, 16-year-old girl. We play sports a lot.

We have some mean ping pong matches.

I'd do anything for them and they know it.

Something that has impacted me the most in my life was being diagnosed with aPAP.

Given my condition at the time, I was super surprised. I was, very healthy, went to the gym all the time, still played sports.

I moved into a new house and I'm really cheap, so I didn't hire movers. I did it all myself. And I noticed just from walking up and down the stairs carrying a simple light little box that I was winded and I couldn't believe it.

I thought I was either super tired, or something was wrong with me. This happened for a few months.

I'd say four to six months of constantly being exhausted, tired, um, going to bed early, sleeping in late, things like that, that just weren't normal for me.

I had pneumonia when I was like 32. The doctor ordered a chest x-ray, and the chest x-ray came back. It looked awful. Absolutely awful. It looked like a whiteout of snow.

The radiologist called and said you need to get checked out right away. Uh, there's something in your lungs, we don't know what it is, but you need to get checked out right away.

So, eight weeks later I got to see a pulmonologist. At the top of the paper the pulmonologist was reading it said in black and white “markings resemble aPAP - pulmonary alveolar proteinosis”.

The doctor looked at me and just completely blew it off and ordered a bronchoscopy for me. So, I went in, I got the procedure done.

And within eight to 10 hours, I had double pneumonia. My lungs were collapsing, and I was in the hospital.

From there they transferred me to another hospital. And I was immediately wheeled into a room in the ICU, and they started giving me all sorts of medication.

The doctor came into the room and basically said, you know, uh, we've called your family, uh, uh, and my kids came in and I had to say goodbye.

My kids were five and seven at the time.

One of my buddies was Googling my disease, and as he was Googling it, it gave the name of a specialist in the area, and the specialist conferred with my doctors. And after a while, a couple days, my prognosis changed. I went from getting a 3% chance to live to substantially better.

After getting out of the hospital and recovering for about a month and a half on oxygen, I traveled to a local hospital to meet the specialist 'cause I'd never met him in person. And I got a full education on aPAP.

Living with it, when your lungs are clogged, I mean, I'm old already, but it feels like I'm 30 years older.

The feeling of when I'd say an elephant on my chest, being physically incapable of expanding your lungs so that you can, breathe is one of the most frightening things someone will go through.

Initially after I was diagnosed with aPAP and I recovered, um, the doctor recommended a full lung lavage, which is rather invasive.

I think the first lavage I had, they went in one lung, they did 52 bags of saline, and it was nasty.

I feel like I'm very fortunate in that my life hasn't changed very much now that I've got it managed. It was the figuring out what I had and how to fix it was the issue that was the hardest part.

The pulmonologist at the hospital I was at didn't know anything about aPAP. Zero. It took lit, literally, just a random Google search pulled up the specialist name, and at that point, everything changed.

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[Male host]
It’s a rare, life-threatening lung disorder that impacts seven out of every 1 million people in the general population.

[Female host]
It occurs when an oily substance, normally present in the air sacs, builds up and causes a feeling of breathlessness that can worsen over time.

[Male host]
We'll learn more about this complex disease from a renowned pulmonologist. But first let's meet Eric, whose diagnosis came as a complete shock to this former personal trainer.

[Female host]
We're going behind the mystery of autoimmune pulmonary alveolar proteinosis, or aPAP.

[Eric]
After I was in the hospital for five or six days, things weren't looking really good. I could barely breathe, and nothing was working to clear out my lungs at all. The doctor told me that I had a 3% chance to live, and I need to say goodbye to my kids, so that was hard.

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[Eric]
I've always been really active from a young age. I started ice hockey as soon as I could walk. After I graduated college, I started working as a personal trainer, and fitness was a huge part of my life.

My kids were really young and we were moving to our dream house, and I moved everything just myself. And I noticed as I was moving, just walking up one flight of stairs, I was completely winded, which is very uncharacteristic of me.

Shortly after moving into that house, we took the kids down to Florida and I blew my knee out the first day, and when I got back home, I went to my orthopedist, who ordered a chest x-ray before he would operate on me. And I got a call on my anniversary evening, ready to go out to dinner, and the radiologist told me that my lung x-rays came back very abnormal and basically said I needed to see a pulmonologist as soon as possible.

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[Bruce C. Trapnell, MD]
Pulmonary alveolar proteinosis is a rare syndrome in which an oily substance called surfactant builds up in the air sacs of the lung, also called alveoli, and prevents oxygen from passing into the blood. Normally, surfactant is present in the air sacs as a thin layer that helps them stay open and function, and is normally cleared by alveolar macrophages.

Autoimmune PAP occurs when the immune system produces a protein called GMSCF autoantibody which blocks macrophages from functioning and prevents them from clearing surfactant from the air sacs.

The symptoms of autoimmune PAP are nonspecific and include breathlessness, cough, fatigue, occasionally white frothy sputum, chest congestion, chest pain, and some patients also have fever and cough up blood, which indicates that infection of the lung is also present.

[Eric]
As soon as I got to my appointment, the doctor was going over a sheet from the radiologist, and the radiologist said on there, “Looks like he has PAP,” and the pulmonologist looked at his diagnosis and looked at me and said, “There's absolutely no way you have PAP. You're way too healthy for that,” and then he ordered the bronchoscopy so he can confirm exactly what I had.

I went through that procedure. Everything seemed to go fine until later on that night, my chest started getting really, really heavy. I let it go for a few more hours and I generally just could not breathe at all.

So, we hopped in the car and rushed off to the hospital and by 2:30 in the morning, my lungs were collapsing, and I had double pneumonia. I was on every kind of antibiotic you could imagine, and nothing was getting better. The doctor told me I had a 3% chance to live, and I should probably say my goodbyes to my family.

Some of my friends had gone in and started researching what the radiologist had originally said, PAP, and they found Dr Trapnell up at Cincinnati Children's. Dr Trapnell suggested that they do the blood test to confirm or rule out whether or not I in fact have PAP. Once the blood test came back, it showed that I did in fact have autoimmune PAP.

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[Bruce C. Trapnell, MD]
The diagnosis of autoimmune PAP is challenging because the symptoms are nonspecific. They occur in other very common lung diseases, and physical findings are generally minimal while routine laboratory tests are frequently normal. Most patients are diagnosed initially incorrectly as having pneumonia as adults, or as having asthma as children.

Historically, a lung biopsy has been used to diagnose PAP. However, lung biopsies are unable to diagnose any specific PAP-causing disease including autoimmune PAP.

In marked contrast, a simple blood test to measure the level of GM-CSF autoantibodies can provide a definitive diagnosis of autoimmune PAP and exclude other lung diseases.

Had Eric undergone blood testing for suspected autoimmune PAP, the lung biopsy and subsequent infection and hospitalization would have been avoided.

[Eric]
After a few months went by, I had to travel up to Cincinnati Children’s to meet Dr Trapnell for the first time. I think I ran up to the guy and hugged him.

I'd never met him in my life, but the man truly saved my life. He took as much time as we needed to understand what autoimmune PAP was.

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[Bruce C. Trapnell, MD]
Currently, there is no cure for autoimmune PAP. The treatment strategy depends on the severity of the disease and, generally, patients are currently treated with whole lung lavage, which requires hospitalization, general anesthesia, mechanical ventilation—which is a breathing machine—and requires a team to perform.

In whole lung lavage, one lung is connected to a breathing machine while the other is repeatedly filled with salt water and drained to physically wash surfactant out of the lung. Whole lung lavage can be effective, but it does not stop the disease, does not stop surfactant accumulation, and is typically required periodically by most patients.

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[Eric]
After I received the first lung lavage, I was night and day better. You realize how much oxygen you've been missing. It's amazing. I felt like I was 20 years old again.

After that, they did a lavage on my second lung, and then it was about every 8 months or so. I'd have to keep going back in. It would cause a lot of anxiety because you know you're going under anesthesia, and then the pain you feel in your lungs afterwards. That's not ideal at all for treatment.

If my lungs were getting clogged, my energy levels were really low, and it was a struggle breathing. After going through a few lung lavages, it became pretty apparent to me that we need more options in terms of managing autoimmune PAP.

[Bruce C. Trapnell, MD]
The goals of treatment in patients with PAP are to reduce symptoms, improve oxygenation, and to improve quality of life—ultimately to address the cause of the disease. My advice for patients living with autoimmune PAP is to learn about the disease. Understanding the disease can help patients make better choices when needed.

The patient should talk to their doctor about their symptoms and their ability to perform their normal activities of daily living. It's useful to connect to other patients with similar problems and there are organizations, for example, the PAP Foundation, that can help provide patients with autoimmune PAP with help and information.

[Eric]
Now that I know I have autoimmune PAP, life is similar, just a little bit slower, and I have to constantly manage my oxygen levels in my lungs. I spend time with my kids, try to keep up with them. Over the years that I've known I've had autoimmune PAP, I've been able to connect with other people with the same disease, and it was kind of nice to know that I'm not the only one and that there are other people out there.

I suggest for anyone with autoimmune PAP that they reach out to their pulmonologist, and hopefully you can get someone really good like Dr Trapnell, and get your blood tested and you have your answer right away.

Don't wait on it. Don't wait on it at all.

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[Male host]
If you or someone you know has any of the signs or symptoms of autoimmune PAP, ask your pulmonologist to order a simple, accurate, noninvasive, no-cost blood test at apapclearpath.com.

[Female host]
If you have been diagnosed with pulmonary alveolar proteinosis, or PAP, visit papfoundation.org. You could always go to our website, thebalancingact.com.

[Male host]
And we'll be back right after this.

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