"The Journey Is Just Beginning," by Carmen Camacho

Carmen Camacho's story spans decades, but her journey is just beginning.

 

Transcript

It was a Saturday afternoon at Binghamton University. I was a graduate student at the time. I was working, sitting at my desk, and I got a call from my mother to tell me that I had a 39‑year‑old cousin with albinism that had passed away. And that they felt that, because I also have albinism, that I should get tested to make sure that I did not have the same condition.

I was shocked, confused, a little scared. I didn't feel sick. I have been healthy. I've been doing great. So I didn't know what to do with that information.

My husband, that at the time was my fiancé, was with me and said, "Let's just think about this. Let's just get the test done and take it from there. We'll get the test and we'll see what happens."

So, I did. I got a doctor that was willing to run the test. A week later, I got a call saying that I have Hermanski‑Pudlak Syndrome or HPS. Hermanski‑Pudlak Syndrome is a rare type of albinism that has an issue with platelets, platelet dysfunction. People with HPS tend to have bleeding issues. We don't clot because our platelets are missing dense bodies that are the platelets that help with coagulation.

That doesn't make sense. I got a really tendency to bleed a little bit. I have very profuse menstrual periods. I always took time healing after a cut or a minor procedure, so it makes sense. But the lung stuff, it didn't make sense. I felt fine.

We thought, “Well, just because she got it doesn't mean everybody's gonna get it.” There was nothing in the literature saying that because I had HPS, I was going to get lung disease. So, we put this information kind of in a little file cabinet in the back of my head and we said, “Let's just keep this information, but let's move on.”

And we did. I finished my Master's, I got married, we got a house, we traveled, and I got pregnant. When I got pregnant, it's when I realized that I needed to take this information out and see what I can do with it, because now I am going to have a baby and I needed to make sure that I was going to be fine and that the baby was going to be safe.

So, I contacted the HPS Network and the HPS Network was very helpful. They taught me everything I needed to do about bleeding and about standard of care. I was told, “You just need a doctor to help you with this that is willing to work with you.”

I went on a quest to get a doctor. I was very lucky. I found a doctor that told me that he was ready to do this, that we were going to do it together and that we were going to do it well. This doctor was very serious, but seemed very capable. I just said, "Okay. Bingo, this is it."

I had my baby. Everything was going fine during the delivery and it was fine as it could be. There was some screaming, some crying, and I think I bit my husband a couple of times, but, overall, it was good until delivery.

After delivery was when hell broke loose. I started bleeding profusely and I had a postpartum hemorrhage. I was very sick and my doctor was very scared and asked for platelets that we had together with the information to get a hematologist. He recommended this hematologist.

I went and talked to him and explained everything. He was supposed to have platelets and blood products ready for me for the delivery. Well, he didn’t. He didn't because he said he’d run some tests and everything looked normal so he felt that I was going to be fine. He did that even though I had said to him that all my blood work would be normal because none of it will show HPS. But I guess I wasn’t a doctor so it wasn’t enough.

Through the whole process, I lost two‑thirds of my blood. I coded in the OR. I was very sick. I remember at one point telling my doctor, "Oh, my God, I'm gonna die." And he got really close to my face and said, "No. No, you're not gonna die. Not in my watch. We're doing this. I'm going to do it well."

And he did. He got me through it. He gathered as much blood as he could from the hospital, whatever they had. And when Paul was done, I had two‑third of other strangers’ blood in my body and God knows what other blood products, but he did it. I was alive.

About a week‑and‑a‑half later, I was able to hold my baby boy Christian and take him home. And the day that he held the baby, I saw the biggest smile on his face. The man that never smiled had a really big smile, and that was very nice.

We went home. We raised our baby boy. Seven years later, I got pregnant with my second child. By then, we were in Chicago. I was a little smarter. I had more information. I was more involved with the HPS Network so I was a better advocate for myself. I was by then a patient educator, teaching others how to treat their HPS.

I was able to get a doctor at University of Chicago that had experience with HPS and this delivery was completely different. Two hours later, I was holding my baby and breastfeeding. What a difference it makes when people listen to you.

So, we continued our life happy, not worrying about HPS as much. Halloweens, travels, family vacations, football games, all the stuff families do.

Then about five years later, I was invited to be a part of the natural history study at the National Institutes of Health. There, they tested me genetically. By then, they know more. We know more about HPS and they realized that I have HPS1.

Well, HPS1 is the type of HPS that develops pulmonary fibrosis 100% of the time. So, I was stunned. I was sad. I was angry. I didn't know what to think, but I felt fine. I was healthy. I was hiking. I was running. I was running after the kids. I wasn't sick.

They said that I needed to start thinking about the lung transplant someday, because that was the only cure for HPS. I was so surprised. I just thought, “Okay, I'll just take this information and put it in my file cabinet in the back of my head and keep it there for when I need it. At this time, I was fine.”

I went home and I needed a procedure, actually, that same year. I needed an ovary removed. They started doing all the processes to the procedure and they realized when they started checking my blood that I had a lot of antibodies. They told me that my PRA or the amount of antibodies that are in my blood are so high because I had so many transfusions and from so many different people that I had developed antibodies to the platelets.

So, right now, if I get a platelet transfusion, I could react to those antibodies. That I needed what they call an HLA match.

Okay. So we did what we had to do. They looked for the match. It took about three weeks to get the blood that would match me. They did the procedure. Everything went well. Again, I was like, all I need to do is to get an HLA match and I'll be fine.

About a year later, I was invited to go to the American Thoracic Society. During that time, I had been more involved with the HPS Network and I was more involved with family support and patient education.

So, we went to this talk where this doctor was talking about lung transplants and what was required from the patients to be eligible for a lung transplant and what would the transplant centers look like.

I raised my hand and I asked, “Okay, so what about if you have a person that has a high PRA?”

And the doctor was quiet and said, “How high?”

Then I said, “Well, in the 90s, 90 %.”

He was quiet again for what seemed like an eternity and his answer was, “Well, this person would be automatically rejected. Our center would not be able to take somebody with such high PRA because lungs are precious, are very hard to come by, and we need to make sure that whoever gets this lung is the best home for them. So, they will be disqualified automatically.”

I was done. I think the room went black. I could feel the tears coming out and I was thinking, “Okay, if I stop breathing, the tears would not come out.”

It was a full room of doctors, other patients, healthcare professionals, and me, who was ready to burst into tears. I looked at Donna Appell, who wasn't sitting next to me, and just couldn't hold it anymore. I just started crying.

She helped me and let me have my time. The doctor was stunned too. After the talk, he came and he apologized.

I said, "No, you did what you needed to do. You were honest and candid.”

I felt bad for him that I messed up his talk, but I said, "You said what you needed to say and I'm glad you did. I needed to hear this. Because, now, I can actually show you that I could be the best home for those lungs."

So, I went home and I started my journey on working on my lung transplant. By then, I had known that I had developed more pulmonary fibrosis. That I needed to be really looking at a transplant center.

So, I worked really hard learning about transplant, about the process, about what is required, about the different transplant centers, what do they want, what they're looking for. I was determined to find somebody that would give me a chance.

I am really happy to report that on December 16, 2021, I was listed for a double lung transplant with Brigham and Women's. Yes, they know the challenge. They know my PRA is very high and they're willing to work with me, and they're willing to give me a chance to have lungs and to show that I could be the best home for those lungs.

Funny, I thought that my journey through all this started when I got my pulmonary fibrosis diagnosis, but I realized that it started earlier than that. It was all to prepare me to this, because I know that I can get lungs. I know that my journey doesn't end here. I know I can be the best home for those lungs. And I know that, in a couple of years, I'll be talking to you again with new lungs, because my journey is not ending here. My journey is just starting.

Thank you.