Hermansky-Pudlak Syndrome Network Inc

Editor’s note: The following is a transcript of a session held at the 2009 HPS Conference in Uniondale, New York this past March. The session was about lung transplantation. The transcript has been edited for space. The session was held in a question/answer format. Heather Kirkwood, Vice President of the HPS Network, moderated the session. Janet Perez, who received a lung transplant in June, 2008, answered questions about her experience. One of her doctors, Dr. Keith Meyer, Medical Director of the Lung Transplant Program at the University of Wisconsin, also answered questions about lung transplantation.

Q: How did you learn you had HPS?

Janet: I found out I had HPS when my niece found it on Google. She was looking up information about my health condition and found it.

Q: Can you tell us what state of health you were in at that point?

Janet: I caught a cold in April (2007) and by August they did a biopsy to find out why I wasn’t getting better. Right after the biopsy I had to go on oxygen and that’s when I found out I had pulmonary fibrosis.

Q: (to Dr. Meyer): At what point is it a good idea to be referred to a lung transplant center?

Meyer: So, when you had your biopsy the doctors didn’t know you had HPS? They didn’t have any concerns about bleeding?

Janet: No, I didn’t know it yet. It wasn’t until my niece found it later.

Meyer: That’s unfortunate.

So, when should patients or their physicians think about referral to a lung transplant center? There aren’t actually any guidelines for HPS, but there are guidelines that were published for idiopathic pulmonary fibrosis (IPF) in 2006. Because the long-term prognosis for this isn’t very good, they recommended that you start talking to patients about the possibility of lung transplant at the diagnosis regardless of the pulmonary function.

You don’t want to do this too soon, but you don’t want to wait too long.

For patients who have IPF, the most common type of pulmonary fibrosis, the forced vital capacity is a test that can be used to follow how people are doing. Diffusion capacity is another test that can be used. Some experts have suggested that when the FVC is getting into the 40 to 50 percent range, that should be a trigger for a referral to a transplant center.

If you wait too long and something happens and you haven’t been evaluated, you might not be able to get a transplant.

You should start to think about this when the forced vital capacity is reaching between 60 and 50 percent of normal.

You should think about this especially if you need extra oxygen to help you breathe.

Q: What did your doctors initially tell you about the lung transplant process?

Janet: They explained to me that I had to go through a series of physical and mental tests. There was a lot of x-rays, tests for the lung and heart, and a lot of blood work. They explained the ups and downs of the procedure.

It’s a long process just to try to get on the list. You just can’t get on the list because you’re severely ill. Considering how sick I got in a short time, I left my job in October to do what I needed to do to meet the requirements to get on the transplant list. It was two months of testing. You really have to get an A on these tests!

I got on the list in February. I did whatever it took. I felt like I was constantly going to Wisconsin to be tested.

You have to tell them the truth about whatever you did in your past. If they find out that you’re not being up front about your medical situation or your past, you won’t get on the list.

Q: What did they want to know about your family and your financial situation?

Janet: They wanted to know about your insurance. How can you afford to pay for this? You have to do what you need to do.

Q: Dr. Meyer, what else can people expect?

Dr. Meyer: The reason for this process is that you have to make sure that people don’t have problems that could keep the transplant from being successful. We do evaluate patients very carefully. We want to know about things like diabetes, heart function, or heart disease. We want to make sure your kidneys work well because the medicines for suppressing the immune system can affect your kidneys. Often after being on these drugs for a while patients can have kidney problems.

We have to make sure that you understand what you’re getting into and that you’re able to take all your meds to keep your immune system adequately suppressed.

There are a lot of things that we go through so we know better how to prepare for any complications and try to prevent them.

Q: When you were initially going through this did you feel like your team had any concerns about HPS?

Janet: I wasn’t worried. They reassured me that they were looking at all the possible issues. You have to be curious, ask a lot of questions and do what they tell you to do. I follow all the instructions.

Q: (to Dr. Meyer) What other concerns might a transplant center have about HPS and how should patents handle that?

Meyer:  With all the surgery, and the potential for bleeding, we had to be sure we knew how to address that. Other than that there wasn’t anything besides the usual concerns. 

Janet’s situation was a bit more complicated because she had severe pulmonary hypertension which meant that there wasn’t that much time. We wanted to do things quickly so that she had the best chance.

Q: Janet, so once you were on the transplant list, what was expected of you?

Janet: I just had to keep myself in physical therapy.  I was on six liters of oxygen 24/7. It was hard to move or walk, but by the time they called me it was perfect timing.  I was ready. You have to keep yourself moving.  I was literally at my last breath. I was blue. You could see the blue in me.

When they first tell you about transplant, they give you the raw reality of it. They told me I could be waiting two years. I thought oh no. I had such a lack of oxygen, even though I had oxygen on all the time, I could hardly walk without trying to catch my breath. Even with all that, I still had to go to physical therapy and exercise and keep motivated and believe they’re going to call me tomorrow. 

I called my transplant coordinator every Monday. I kept calling him and telling him I needed air. I was persistent to let him know I was there. I did whatever I thought it took. They called me in less than four months.

Meyer: Did we tell you two years? It can be that long but more recently there’s a new approach to lung allocation that assesses how severely affected one’s lung is so actually your score with the things you had going on was a bit higher increasing your likelihood of getting a transplant in less than two years. We match people according to blood type and the size of the chest cavity. You can’t have wild mismatches.

Depending on when the right size organ comes along that has the right blood type actually determines how long you have to wait. 

Q: How did you cope with the waiting time?

Janet: It was hard but I just knew I was getting that call.  I just knew I was persistent and decided it was going to happen. I did whatever they required me to do. I kept in full communication and was honest with them.  I believe that if you don’t open your mouth and express what you need, you’re not getting it.

Q: I know during your wait, you had a trial run. What happened? 

Janet: They called me in and I was just so exited. I was happier the first time than I was the second time.  The first time they prep you for surgery as if you’re going in and they have a lung for you. The first time it just happened that something had happened to the lung and it wasn’t usable. 

I was so happy when it did work out.  They looked sadder than I did when it didn’t work out. They were so upset that they didn’t have the lung for me. I had to reassure them that it was okay.  It was worth it because when I went the second time I was more ready and more prepared.  They told me sometimes people change their minds after they don’t get a lung like that, but not me.

Q: Dr. Meyer, how often does this happen?

Meyer:  A lot of things have to fall into place when you have a donor so when you get that lung back to your center, sometimes it turns out you can’t use it. When we’re assessing the lung we might call in more than one person.  We see how things are.  The lung is very fragile. When people have bad accidents the lungs are often damaged and can be damaged too badly to use. We want to make sure we’re not giving people bad lungs.  Even when we have a very good lung about one in five get something called primary graft dysfunction, meaning the lung doesn’t work well right from the get go.

So we have to very carefully evaluate how the lung works and sometimes we just can’t use the lungs, even though the other organs can be used.  With kidneys or livers you can put them in the cooler overnight but with the lungs timing is essential.  That means we call people in and sometimes we’re all ready to go and something happens at the last minute.

Q: Janet, tell us about your support system.

Janet: I had so much family support and friends. From the moment that I needed a lung transplant they were there. The support group was very important.  I ‘m not one to cry on anyone’s shoulder and they knew that so they came to me. They helped me by doing fundraisers for me. They all went out of their way 100 percent above and beyond. 

Q: Dr. Meyer, how important is the support system to a successful transplant?

Meyer: Anthony (Janet’s husband) has been very helpful.  One of the things we evaluate is the support system. It’s extremely important to have a support system.  If you have someone help you take the medications you will do better. If you mess up your medications, you’ll reject your lung so that support system is very important.

Q: Janet, will you tell us about the financial ramifications of all this? What advice would you give others?

Janet: The financial is, well, yuck. It‘s overwhelming. We did fundraisers.  You are responsible for the transplant cost.  There are no charity programs and you have to pay that yourself.  With the insurance my husband has I was pretty well taken care of but the financial stress is still there. We pay little by little. If you get sick after the transplant, that’s different. There are charities that you can go to for help then.

Q: Tell us about the big day when the call came. What were you doing?

Janet: That day I was at physical therapy on the treadmill and the call came. I literally had a panic attack.  I was choking.  I started crying. I knew that I was getting a transplant that day. I just knew it would work out. I called my husband to come pick me up. I was relieved because I knew I was going to breathe in a few hours. I just knew.  I was so ready. 

Q: Tell us about your recovery. How long were you in the hospital?

Janet: Recovery, well, I was walking in three days. I was crying it was so great. It was hard but I had to get up and move. I had other patients challenging me because we were trying to get motivated. I sounded like Minny Mouse for a while there. 

Q: Dr. Meyer: Can you tell us more about what to expect? 

Dr. Meyer: I just want to back track a little and talk a bit about the financial issues.  It’s very expensive so parts of our process, our team, are counselors who know how to find programs that can help with financial issues. Thus in the short run, in the first year or so, things tend to work much better.  Then, as people get further out and they max out their health plans there can be real problems. One patient never told us that her insurance had stopped paying for one of her most important drugs. She tried to handle it by taking half the dose and she ended up rejecting her lung. So, down the line it’s really important to keep talking to the transplant center about any problems that come up.

Now, about the typical recovery - everyone is different. We take the breathing tube out after surgery and we usually can remove that in 48 hours. After the surgery some people have more complications. Sometimes the lung doesn’t work so well right away. I’ve had patients on the breathing machine for several months. I just saw one in clinic.  She’s 17 years out but she spent two months on the ventilator. You don’t know what is going to happen in any given individual. Usually they do pretty well and are feeling pretty good in seven to 10 days. Some are even ready to leave the hospital in 10 days.

Q: Janet, what happened to your old lungs?

Janet: I donated my lungs to the NIH for HPS research. I felt it was very important for the researchers to be able to study my lung and maybe help them to better understand HPS.  I’ve also decided to donate my body to NIH if I ever do pass away. I want the NIH to be able to do more research and find out more about what they need to know. I hope that kids in the future with HPS will have a chance at better care. I never had that chance because I never heard of HPS until I got sick.