Friday, August 18, 2017

A Rude Awakening

This past Monday I was on the HPS Conference Planning Committee video conference and my phone rang. It was Inova Fairfax Hospital. Every time I see that number my heart falls into my feet. It isn’t that I don’t want a transplant. It isn’t that I wouldn’t be thrilled to get the call. But, when that call comes, I know we will be embarking on a whole new medical saga and the road can be rocky. Surgery isn’t the only scary thing. Getting a transplant isn’t a cure. It’s trading one lung disease for another in hopes that, at least for a while, you get to be healthy enough to have a somewhat normal life. But, we are not replacing auto parts here. It isn’t a sure thing. It might not work. So, getting that call is exciting, but super scary too.

When you first get listed, you may know it is unlikely to get a call, but still, you are on constant alert for the ring of the phone. Nine months in, life goes on. You do your day to day things and try not to think about it too much. At any moment this call could come that will turn your life upside down, but you sort of adjust into this weird normal until it does.

So, when I saw who it was on the caller ID, I immediately picked up the phone. It was my transplant coordinator and one of the doctors. My stomach did a flip flop. But, it wasn’t the call. It was just as much of a stomach turner though.

They were calling to tell me that the transplant committee had met and discussed my case. They think it is time to list for a single or a double lung transplant, and not just a double. They think my disease progression is speeding up, and by doing this, I might get more chances. There are pros and cons, and whether for me a single or a double would be better, is a debate. A single might not last as long as a double. But, the surgery isn’t as hard on you, and if you manage not to get cancer or develop some other health problem from the anti-rejection drugs, it gives you some options if you should have to go for a second try at a transplant. Can you imagine that? We might have to go through all of this again! No wonder I don’t have any finger nails left!

The call caught me totally off guard. At every transplant appointment we’ve had this discussion about whether it is time to list for a single or a double, and so far, we’ve held to sticking it out for a double. While I’ve had progression, it’s been a kind of creeping progression. The call was jarring both because I had to consider listing for a single, and because it is a sign that I’m not doing as well as I thought.

That might seem crazy to someone else, but it’s my way. The day I was admitted to the hospital with severe bowel disease, a hemoglobin of 6 and ended up having an emergency ileostomy days later, I’d had no idea how ill I really was. Sure, I was sick. No doubt about it. I was chronically anemic from internal bleeding. I was living on Ensure, jello, ramen and baby food because I couldn’t eat. I had lost tons and tons of weight. My stomach cramped a lot. I went to the bathroom 15 to 20 times a day and it was very painful every time. But, I felt I was managing a chronic condition for which there was nothing else to do. I just had to get through it. So, I did. That very day I had taken a midterm exam that I blew out of the water, babysat for one of my professors and tutored football players in English. The idea that the doctor’s office wouldn’t even let me walk across the street to be admitted to the hospital seemed utterly crazy to me that day.

Perhaps it is the same way now. I’ve got things to do. I can’t focus on how bad things are. I have to focus on how to get the job done. Learning that my docs had met about me, and were concerned enough about a changing picture to want to change the plan was just as jarring as the whole one vs. two debate.

It took me 24 hours to process things. I talked to my friends in the HPS community, family etc. I looked through and reread journal articles. Ultimately the decision wasn’t as much about science as it was about faith. What decision would I regret more? What decision would give me the best chance of accomplishing some of the things that make this fight worth doing? How much control over this do I really have anyway? So, I decided to leave it up to God. If the plan is to get two lungs, then I will still get two lungs. But, if that is not the plan, then this makes the way for other plans.

It’s been a tough week to be honest. My anxiety levels have been super high, even after making this decision.

Monday, August 14, 2017

August Transplant Appointment



I had my most recent transplant clinic appointment Aug. 3rd. As always, I’m never really sure whether to say it was a good appointment or a bad appointment. It had aspects of both, depending on how you look at it. I try to look at the up side these days. Grin!

My numbers were down again, but this time, they were down enough to give me more points on my lung allocation score. The higher the score, the more likely you are to get a call. So, not sure if it is bad that my numbers progressed again, or good that at least this time, I got some points for the advancement. Last time everything was down, but not down enough.

I brought them the CT scan from NIH. No need to get an extra dose of radiation, even if only a small one, for no reason. Let’s save that for when it really matters! And, the CT was done two weeks before the transplant appointment, so it was very current. Again, advancement, but no surprises there.

I have developed what is called Bronchiectasis. Essentially, as my lungs get increasingly fibrotic, the tissue gets harder, can’t expand and contract, and eventually atrophies, or shrinks up. This is making my airways pulled apart in places. It was a new one for me in terms of pulmonary fibrosis, but it sort of makes sense I guess. It is something I’ve heard associated more with COPD, or Cystic Fibrosis. I’ve probably had it developing for some time, but it is now very visible on the CT. Or, at least it was the first time it was notable enough that it showed up in the report.

It also explains why my cough (which I have had for almost a decade now) is now so much worse. They are trying a treatment regimen to help, and so far I think it is helping. Some of you have asked what it is, and I’m happy to share, but with this disclaimer. I’m always a bit hesitant to share details of my treatment regimen when it is not in the context of a direct conversation. The reason is we are all different. Our PF can even be different. I don’t want HPSers reading this, and then going to their pulmonogists and saying, HPSers do this…as it might not be effective or necessary for everyone. That being said, they have prescribed abuderol nebulizer treatments several times a day, and a drug called gabapentin. This drug, like all of our drugs, is off label for us. Some have been using it with some success to treat the cough of IPF, and so, given how debilitating this cough has become, my doctor and I decided to give it a shot. The drug is on label to treat seizures and neurological pain. I’m not sure why it would help with the cough, but I think it may have to do with the spasms that happen when I have a big coughing fit. Since starting the drug, I am coughing a bit less, but still coughing. It is easier to bring up the mucus I am coughing up now. When I do have a big coughing fit, it doesn’t last as long. They had gotten to run about 30 minutes,, which is incredibly disruptive and exhausting, especially when they are several times a day! I have also noticed my O2 sats a bit better. Don’t get me wrong. I still need a LOT of oxygen, but for example, I can get up and walk to my bathroom without my oxygen on and am still okay. My apartment is super small, so that’s maybe 11 to 20 steps. For the last month, however, just that would make my 02 go into the basement, so this is a minor improvement. It hasn’t made any difference in the 02 I need for exercise or walking around, but every little bit helps.

The gabapentin is a challenge for me to adjust to, for whatever reason. It has given me hand tremors, made me nauseous and made me so sleepy I have literally done nose plants on my computer screen trying to work. It makes my affect very bla. Sometimes I am talking and the words are clear in my head, but I can’t get them out my mouth. This is improving though, so I hope as I adjust to it, these continue to lessen. My ab muscles are appreciating a bit of a break from chronic severe coughing. Really, with all the coughing I do, I should have abs of steel!

After I do the abuderol nebulizer, I am doing three sets of ten with a device called an acapella. It makes your airways vibrate so it is easier to get the mucus out. Getting this crap out is important as it is a perfect breeding ground for bacteria, and thus, respiratory infections. As I said in my last post, getting this sort of infection is a big deal problem for me these days. It isn’t just a matter of getting some antibiotics and getting through a cold. It could cause an acceleration of my fibrosis. That might up my lung allocation score, but there’s no garuntee that just because my score rises, that lungs will be available. You just don’t know. I think of all my friends who have passed waiting for lungs, and I know that as positive as I am, as much as I say when I get my lungs (not if) that it may very well not happen.

So, I just keep working to give myself the best odds.

The other big worry to me at the transplant appointment is that I couldn’t complete the six minute walk on eight liters of oxygen. I had done so at NIH just a few weeks before, and done pretty well actually. At Inova, however, they used the pendant cannula I use on a day-to-day basis. This is a conserving device to try to help the tanks last a bit longer. They go so fast when you are using a lot of oxygen and it can be very life limiting. But, I know from rehab, that it isn’t ideal for full on exercise. It just can’t keep up as well. At NIH, they didn’t have a high flow cannula so they used a regular oxygen mask. I asked my respiratory therapists at rehab about it because it really worried me, but they said the different was likely due to the mask vs. pendant cannula and not me. Also, when I do that six minute walk, I walk faster than I do in every day life.

The other reason I couldn’t finish the six minute walk is that they changed their protocol for how they do them. It used to be they would bump the oxygen up if you went too low. Now, if you go under 80 they just make you stop and they conclude the test. If they had bumped it for the last minute of the test, I would have covered as much, if not more, ground than I had at NIH. So much really depends on the speed you are walking, and the type of oxygen delivery device you are using. I was very worried when they wouldn’t let me finish the test because years ago an HPS friend who was needing so much oxygen she had to be in the hospital, had to be able to complete the six minute walk to stay on the transplant list. I could have finished the walk if I walked slower, or used more liters of oxygen. But, I guess that isn’t the rule here as I am still listed.

I’m still not entirely sure if it is better to walk as fast as you can without running, even if it means your oxygen goes too low, or if it is better to walk at a slower pace and finish the test. The rules of the game, sort of speak, seem a bit murky.

The last thing that came out of the transplant appointment is that they want to do another echo. I had one just a few months ago. They are keeping an eye on whether I am developing pulmonary hypertension. I am at high risk for it. If I had it, it would give me a big bump on the lung allocation score. Treating it might also mean I might use less oxygen. So far, however, I haven’t developed it. Knock on wood! Long term strain on your lungs can start to impact your heart. So far, that hasn’t happened to me. But, if this goes on long enough, it probably will.

Sunday, August 13, 2017

Visit to NIH



Last month I made another visit to the National Institutes of Health (NIH) as part of the natural history study on Hermansky-Pudlak Syndrome or HPS. It was the first time that, to be honest, I wasn’t really excited about going. Don’t get me wrong. I was happy to go, but for me, it was different this time.

I’m at a point with my HPS where there is nothing left to do. I am taking all of the medications I am able to take to help. I am on the transplant list, doing my rehab, and continuing to try to eat healthy and lose more weight. The only thing I was going to learn from the trip is that my lung disease is worse. I know that. In fact, I was pretty sure I wouldn’t learn it was stable because I get seen by a pulmonogist about every month and a half. My numbers are steadly tracking downward, and my oxygen needs continue to creep upwards. So, progression wasn’t exactly a news flash.

But then going to NIH isn’t about yourself. They tell you that participating in research has no benefit for you. I’d disagree. I think it has benefits – they just aren’t monetary, and they may not be clinical exactly. Participating in research, however, has been very personally meaningful. It is therapeutic for me to know that someone else can benefit from what I am experiencing now. It is therapeutic to be able to create hope for a different future, even if it won’t benefit you directly. And, that is why I went back this time, even though it wasn’t easy and even though I wasn’t thrilled to be doing more tests. It isn’t about me. It never was supposed to be about me.

Sure enough, my numbers were worse. No surprise there. I was just happy that they weren’t very different than the numbers I recently had at the transplant center. In fact, they were just about the same.

The respiratory therapist who did my pulmonary function tests was a saint! It was my last test, the end of the working day, and it took an hour and a half to finish my pulmonary function tests. Normally they take about a half hour, maybe a tad more, depending on what tests you are doing. The problem was my hellish cough. When I would take a deep breath to try to do the tests, I would start coughing and coughing and coughing. I’d pause for a bit, take a sip of water even though I know it doesn’t really help, and then try again. I was trying again perhaps too soon. If I try to talk or move around too soon after a coughing fit, even after it ends, it just starts the spasms up all over again. I was worried, however, that this poor guy had to get home. It was six in the evening before we finished, and the clinic was supposed to close at five. He was a real trooper!

I was grateful that not too much was made of my wrap up. In the past I wanted to know everything about everything. I had zillions of questions to ask and I liked getting to see my CT scan. Now, I really didn’t want to dwell too much on the results because there was nothing I could really do with them. After years of attending lectures on pulmonary medicine, I know what the typical prognosis is for someone with my numbers, and I try not to think about it too much. I’ve already outlived predictions made about my life expectancy several times.

The NIH had compressed three days of testing into one day for me. They cut out anything that wasn’t absolutely necessary for their understanding and research. This way I didn’t have to spend the night. With the oxygen needs I now have, that would have meant probably staying in the hospital. Not only is that an extra expense for the research budget, but it runs the risk of exposing me to more germs. At this point in my disease, catching any kind of a bug, especially a respiratory one, could drastically accelerate disease progression. I have to be super careful. I was so grateful that they were able to do that for me.

I can no longer fly, (even if I didn’t have to be close to my transplant center) so if I didn’t live locally, I don’t think I would have been able to go to NIH. I hope that this gave them a look at someone with advanced disease that they might not see all the time.



I can never put into words adequately how important it is that we participate in research. It is easy to say someone else can be inconvenienced. Someone else will do it. But, at the end of the day, someone has to actually do it. With a rare disease, every person counts so much! Without volunteers, there will be no treatments and no cures. We can’t afford to think it is up to someone else.

Saturday, August 05, 2017

Hundred People Search Update

We've added a new member to the Hermansky-Pudlak Syndrome registry. This puts us at 89 to go on this year's Hundred People Search. (H.P.S.) 

Thursday, July 20, 2017

Hundred People Search update

We've added another member to the registry. This puts us at 90 to go on the Hundred People Search H.P.S. 

Thursday, July 13, 2017

Hundred People Search update

We've added a new member to the HPS registry - that puts us at 91 to go on this year's Hundred People Search - HPS. 

Wednesday, July 05, 2017

Hundred People Search

We have a new member! That is 92 to go now on this year's Hundred People Search. Keep up the outreach! 

Wednesday, June 14, 2017

My new set of wheels





I am so blessed to have such awesome friends. There is no way I’d have the resources to get through this medical drama without all the angels in my life coming alongside and helping me – sometimes even with things I don’t even realize I need help with.


I had never thought about getting a wheel chair. My legs are one thing that is working quite fine. During the past three years that my lung disease has been pretty bad, I have used wheel chairs or scooters for short-term things, like attending a conference that involves a lot of walking. But why I didn’t even think of how it could improve my current quality of life, I honestly don’t know. My focus has been on walking, walking, walking – as much as I can stand and still function, and as much as the oxygen company will allow me (a blog for another day.)


Lucky for me, my dear friend Donna thought of it for me. She had a family member pass away and leave behind an electric wheel chair. Other friends joined in and transported the wheel chair a day and a half drive to get it to me. I feel like I have been liberated! As my lung disease gets worse (and unless I get a transplant before this happens) this stage isn’t going to last forever, but for now, and for however long it lasts, I can take advantage of living in a place with so much to see and do, and with public transit! I can run to the pharmacy and not have it cost me the time to go to the pharmacy, plus the hour or more it takes me to recover from the workout of the Arlington hills on the way to and from.


Ironically, my Fitbit steps have gone up since getting the wheel chair. I am actually walking more! I think this is for a few reasons. First, if I go a few days without doing a certain amount of walking, I lose ground quickly. My breathing gets worse. I feel worse overall. Second, although I lost enough weight to get listed, I have to continue that journey, and not moving won’t help. Third, I can do things I have to do, like to go the pharmacy, and have more energy and oxygen left to do the things I enjoy doing, like walking Finley. Fourth, I love Finley like he is my child. I would do anything for him, and he needs to be walked. I love watching him when we are walking. It looks like he is smiling. His tail curls and wags and he literally prances. I call our walks, Fin Therapy!


Driving the wheel chair can sometimes be exciting when you are legally blind. I don’t think I’ve ever driven it at top speed. The steering is way more sensitive the higher the speed, and the swivel wheels tend to do what their name implies when you hit bumps or uneven ground. Not racing around like I’m driving a car seems a little safer for everyone. I also have to remember that people and traffic are not aware that I might not see them (another reason for going slow on the sidewalks - so I don’t run over people because I didn’t see them in time to react.) Interestingly, however, at least in my neighborhood, the traffic in general seems more cautious of the wheel chair than they were of my cane. That is in the category of, things that make you go….hmmmmm…..


My friend Eden and I recently tried out the wheel chair access of the public bus system, and I was very pleased with how easy it is. Now, if I wanted, to say, go to one of the Smithsonians on a whim, I could. I don’t usually, but knowing I could is a great psychological boon!


Thank you friends – and look out Washington. Blind driver on the loose!


Saturday, June 03, 2017

Update from the last transplant appointment

The day before the American Thoracic Society meeting, I had a transplant clinic appointment. I'm not sure how to characterize it - good, bad or neutral. Basically, my lung function fell, my six-minute walk covered less distance and the doctor reminded me (as if I needed to be reminded somehow) that although the differences are small, they've all had a downward trend for the past two years. 

Sometimes I keep myself calm about things by looking for the small upsides in larger bad news. For example, the upside of getting sicker is that my lung allocation score (where I am on the transplant list) goes up. This time, however, the numbers, while not positive, did not impact my lung allocation score. So, no upside to being reminded I'm getting worse. 

It was a depressing appointment. 

I'm so grateful that the day after ATS started, and I got to spend time with all of my HPS friends as well as keep busy. 

So, still waiting, but no change in my position on the list. I guess that is good news, in a weird sort of way? 

Thursday, June 01, 2017

What HPS research can offer the greater pulmonary fibrosis community

While working on going through everything I collected, wrote down etc. from the recent American Thoracic Society meeting, I found this abstract about potential biomarkers in Hermansky-Pudlak Syndrome Pulmonary Fibrosis. This is not a done deal yet, sort of speak, but to me, it's an exciting development. 

For HPS, finding meaningful biomarkers that directly tie to lung fibrosis progression, and not just HPS in general, could help our efforts for better treatments, and someday, a cure. 

Because people with HPS can know they will develop lung fibrosis way, way, before it ever happens, we offer researchers a unique opportunity to uncover early warning signs for pulmonary fibrosis. I can't think of another pulmonary fibrosis population that 100 percent knows they will get pulmonary fibrosis, sometimes decades before it happens. There may be one out there, but I'm not aware of it. 

For people with HPS, or someday others at higher risk for PF due to genetics or exposures, these biomarkers may someday help doctors know the perfect time to start therapies that could preserve lung function. 

These biomarkers could also greatly help prove whether drugs work in future drug trials. 

It's pretty exciting stuff! I wanted to post it here, however, for a few reasons. 

First, as a very, very rare disorder we can often be overlooked. Our funding can be harder to get. Why, after all, spend money on such a rare disease instead of on something that affects more people. This research is a great example of how the rare can be a good investment for more common disorders. 

Second, this research would never be possible without the patients with Hermansky-Pudlak Syndrome who take the time out of their busy lives to participate in research. 

It isn't easy. Many of us have kids, jobs or other responsibilities that make it hard to take days out of our lives to travel, often across the country, to participate in research. It isn't convenient for any of us. Yet, without these willing people there would be no biomarkers to look for - no reason for researchers to keep looking for better treatments - in short, no reason to find a cure. 

So, thank you to all the HPSers who travel to NIH, or who are participating in the Young Lung centers. We know it is a sacrifice, but what you are buying us all is hope. 

Here is the research that got me excited today: 
http://www.atsjournals.org/doi/abs/10.1164/ajrccm-conference.2017.195.1_MeetingAbstracts.A6799