Tuesday, November 18, 2014

Health Update

Yep, still hugely behind on blogging! I feel badly as I promised all of the people helping me raise money to try for a lung transplant that I would keep them all updated here.

So, here is the update.

A few weeks ago I had PFTs again (pulmonary function tests.) The two numbers we watch pretty closely with Hermansky-Pudlak Syndrome are the FVC and DLCO.

FVC stands for Forced Vital Capacity. It is the volume of air you can force out after taking the deepest breath you can. It is measured in liters, but also in percent predicted. The percent predicted takes into account your sex, age, weight as compared to the general population to compare you with others like you. My forced vital capacity was 74 percent of normal. While not terrific, it actually went up one point (mind you, that’s within the margin of error, but I do love it when things go up.)

The other number that we pay especially close attention to is the DLCO, or diffusion capacity. It measures how well oxygen moves through the tissues of the lung into the bloodstream. Mine was 45 percent of normal. For years doctors have told me that this is the most difficult part of pulmonary function tests to get a really accurate measure on, so not to worry if it goes up and down a bit. Well, easy for them to say! Grin!

When I was at NIH in May, it was at 49 percent of normal, and then in August, it went up to 52 percent of normal. So, I wasn’t terribly happy about this score. I wasn’t expecting an improvement, mind you – but was hoping for about the same. Whether this is in the margin of error seems to depend who I ask and how they think about it. But, it was down and that’s hard for me to shake.

I was disappointed because I felt like the test had gone really well! I am usually so anxious every time I have PFTs done. For years now I’ve been afraid each time I had to do the test that this would be the one that would catch me off guard. This test would be the one that would start the ball rolling to turn my life upside down. This time, however, my life had already been turned upside down. I’ve already been told that I need a lung transplant and that I have to move. I was still walking two to four miles a day on average (with 2 to 3 liters of oxygen). Thus, I really wasn’t expecting a big change.

What scares me is how quickly we seem to adapt to the new normal. I question whether I’d really know if there was a huge drop because it isn’t the sort of thing that changes from one day to the next. Perhaps living as a legally blind person all these years and constantly having to adapt, create solutions to get things done when one didn’t already exist etc….I just do it without thinking.

Last week my mom was here helping me work on the move, and suddenly I needed more oxygen than I had been. For two days after she left I was back on at least 2 liters 24/7. I also became more aware of little things I’m doing to adjust that I wasn’t even aware I was doing until someone else was here. The past few days, however, I’m back to using about as much oxygen as I was before the PFT and about what has been normal for me since starting oxygen in May. I’m thinking maybe the stress and all the dust etc. from packing was causing a little more stress on my lungs. These days it doesn’t seem to take much.

In the end, the change was not so huge and drastic that it altered the plans for the move one way or the other.

Maybe a crappy DLCO will keep me from getting too comfortable about all the things I need to get accomplished.

So much more to say, but not enough time. I will try to elaborate on this more later.

Friday, November 14, 2014

The first treatment has arrived!

This has been a historic fall for those with Hermansky-Pudlak Syndrome! I’ve been so busy helping to handle all the opportunities flooding our direction, and keep things on track, that I’m very behind on news stories, and even more behind on blogging!

How could I possibly have missed blogging about one of the biggest milestones in HPS history in the United States? Just think, there are things in the works so important that even this got put to the side for me!!!! That’s how exciting things are right now in HPSland!

In October the Food and Drug Administration (FDA) approved not one, but two, therapies for idiopathic pulmonary fibrosis! The first one, Esbriet (Pirfenidone) is the same drug the HPS community participated in clinical trials to use, so we do have some history with it. I was in one of those trials.

The day it happened, I felt so happy I could have exploded with joy! When I first was officially diagnosed with HPS in 2002 (long story), there were no treatments. Lung transplant centers thus far had refused to even try to transplant someone with HPS for fear of the bleeding complications.

Now my health is steadily getting worse and I am trying to get a lung transplant, yet I’m so thrilled and grateful that I lived long enough to see the day when we had 14 HPS lung transplants under our belt, and there was a legal treatment for pulmonary fibrosis in the United States. It has been such a long road of hard, hard work!

I know most people who have the privledge of taking a medication every day to help them never appreciate what it took from the researchers, the patients, the pharma company or the advocates to make that a reality. It is something I will never take for granted.

I worry, however, that my enthusiasm for this moment in history will oversell the drug to other HPSers. Let me be very clear. This is not a cure. We still have a long way to go. While there are a few anecdotal cases of some improvement, success with this drug is slowing the rate of progression – not improvement. I’ll be pretty happy if it just helps to stabilize my condition after the last year of being in a kind of free fall of progression. It also has some side effects. Some have no trouble with them, but others have a lot of trouble with the side effects. We are not taking a Tylenol here – this is a serious medication after all.

Perhaps it is the side effect of hope that is the best one for me though. Just when things looked so bleak, there is hope. I’m hoping I can surf this bleeding edge of medical science to make it to the next drug. There will be others. Ultimately, it will likely prove to be a drug cocktail of several mediations.

Now, we must keep advocating. We must always be the voice reminding the researchers, the government and the pharma companies that time is one of the most precious resources for us. It can never be replaced. The FDA had a chance to approve Esbriet three years ago. It was being used elsewhere in the world and even their own internal panel recommended it. Yet, they required a second phase III study. I wonder if I’d still be on oxygen if I’d had access to this drug a year ago? I wonder if some of those friends we’ve lost in the last three years would be here now if the drug had been approved? There are other drugs in the pipeline and every month that passes not deciding which drug we try next is lost time we simply don’t have.


So, we take a moment to celebrate this victory, yet we’re already on to the next advancement!

Tuesday, November 11, 2014

Hundred People Search Update

Today we added a new HPSer to the patient registry. This puts us at 87 to go on this year's Hundred People Search. We are way behind where we usually are, but we usually pick up 40 new people or so when we go to Puerto Rico. Since that didn't happen this year, we are a bit behind where we usually are. Now that there is a therapy available for the lung disease, it is just another reason why getting HPSers diagnosed and into the patient registry is so important. 

Monday, October 27, 2014

Meet some of the experts!

I am very excited this year about the Meeting of the Minds taking place at this year's HPS Network Conference. We are expecting 25 doctors and researchers (maybe a few more) to participate. Last year the event was a great success, and this year with more than double the participants, we are hoping that our great minds get together, share notes, knowledge and expertise in the quest for the cure! 

I want to introduce some of our participants, and that will take a while! Grin. 

Meet Dr. Michael Beers! You can learn more about Dr. Beers at: https://www.hpsnetwork.org/en/bios/michael-f-beers-md


Tuesday, October 07, 2014

Hundred People Search

We have added a new member to the patient registry. This now puts us at 88 people to go on this year's Hundred People Search. Yes, that is behind where we usually are, but we didn't have a conference in Puerto Rico this year. We usually pick up a lot of new members there. Keep up the outreach - there are developments coming for which this will be hugely important. 

Wednesday, October 01, 2014

A special kind of bravery

This past Friday the Food and Drug Administration (FDA) hosted a public meeting to discuss the needs of patients with Idiopathic Pulmonary Fibrosis. I have a lot to say about the meeting, but I want to begin by saying that it was one of the toughest medical meetings I’ve ever been a part of. My hat is off to all of those with pulmonary fibrosis, their families and the advocates, who took part on behalf of the thousands more who could not. It was a meeting full of tears and sorrow and frustration. I am told that even one of the doctors from the FDA got teary. While I don’t want to make people cry, hearing that really moved me. It makes you feel like you were heard.

Now, onto the meeting.

The Hermansky-Pudlak Syndrome community has a long way to go in our work with the FDA. The past 22 years (long before I was ever involved) has been a journey of learning new things – medicine, politics, non-profit law etc. Until now, we haven’t had much to do with the FDA because our research hadn’t progressed to the point of having a possible treatment. The NIH has handled the issues involved with the FDA and setting up our drug trials. Now, we are entering a new age, and it is time to tackle understanding the ins and outs of the FDA world.

You’ll notice that the FDA chose to have a public meeting about Idiopathic Pulmonary Fibrosis and not pulmonary fibrosis. I noted that they also had a public meeting about bleeding disorders, and not Hemophilia or Von Wilibrands. Why then is it necessary to only include those with IPF in the pulmonary fibrosis public meeting? By its very name, it excludes people like us. It is the use of an old and increasingly outdated paradigm. As treatments become available there will be some that work better for some patients, and others that work better for other patients.

Take the world of cancer treatments, for example. Years and years ago there were treatments for cancer. Now, they can choose a drug they believe will best work for an individual given the specific type of cancer they have, and even their genetic profile. Someday it could be the same for pulmonary fibrosis. By defining the problem by using the word idiopathic as if the unknown was a disease and not simply a lack of knowledge, the FDA is risking impeding access to life saving treatments to people like us – and someday others. After all, the Sept. 11th responders that have developed pulmonary fibrosis, or the families that know PF runs in their family tree – are they really idiopathic? (Even though most have the IPF diagnosis.)

I think it is a matter of education. The pulmonary fibrosis community in general is only barely understanding and embracing this idea. The FDA, which is a recent player to our world, is really only going off what they’ve been told from the pulmonary fibrosis world. It is a matter of some controversy and debate and will likely require a great deal of advocacy work on our part. That’s okay. Now is the time to make that happen, and this public meeting was the first baby step in what will be an ongoing process for us.

I was so moved by the representatives that spoke on behalf of pulmonary fibrosis patients. I know Donna was very upset that I was listening to this testimony. She was, and rightly so, worried about how upsetting it would be for me given the decline in my health. Family of those who have lost loved ones to pulmonary fibrosis offered extremely graphic descriptions of their relatives’ last days. Others talked about how much pulmonary fibrosis has changed their lives and what a devastating effect it has had, not only on them, but on their entire families. Of course it wasn’t easy to hear. On the other hand, in some ways, it was vindication for some of the things I am starting to notice about my own health.

As I start to notice things that are harder to do now than they used to be, I find I often have a tremendous amount of guilt. I ask myself, is it really my health, or is it in my head? Is there a reason, or am I just feeling lazy? It was affirming to hear others in pretty much the same state of lung disease talk about the same issues and problems.

I want to blog about some of my own answers to the FDA’s questions, but that will have to wait for another time.

The one thought I couldn’t shake through the trauma of the day is this – Imagine having all of these same problems (coupled with legal blindness) and then, when after years and years there is finally a treatment, being left behind?


For now, I just want to thank the FDA for having the public meeting and listening to patients. I want to urge the FDA to make sure that patients with HPS are not left behind suffering and dying when there is a treatment that could help. Lastly, I want to thank Donna and all the other brave advocates who stood up, shared their very souls, and gave us all a voice!

Tuesday, September 16, 2014

Health Update: Nose to the grindstone

I’m a bit late posting a health update, and an update on the transplant journey. I think I completely missed it last week. Please forgive me. 

Last week was a very busy and a very productive week. We submitted a grant to Walmart asking for funds to help with conference. I don’t know if we have a chance, to be honest, but I felt like our grant application was a good one. Then again, I always feel that way – grin! I sometimes wonder with grants from large corporations like this one, if we stand less of a chance because we are not a huge national non-profit with lots of name recognition. We don’t fit the advertising campaign quite as well. But, we’ll see. If we did get this grant, it would be a HUGE boost to the conference!

We also made progress on another grant we’re working on to help fund Meeting of the Minds – the medical meeting for HPS researchers.

Lastly, we submitted our written testimony for the upcoming FDA hearing on pulmonary fibrosis. It was a week with a lot of deadlines, thus I’m so behind on communicating with friends etc.

As for my health, I was starting to get a bit worried over the last two weeks, but I think everything is okay now. For three days I noticed my oxygen needs were up. I know it is all about the long-term trends, and not just a few bad days – yet I can’t help but get anxious. Once my oxygen needs get over six liters in motion, I think being mobile and independent is going to get a lot more challenging. Thus, an increase had me pretty worked up. Thankfully, after three days things went back to status quo. I think it was an asthma flare up that was quickly and easily treated (thank the Lord!) When you’re on the edge, it doesn’t take much to make a big impact.

I had also started coughing again. I am convinced that the severe cough that no one could figure out how to treat for so long is the reason I experienced such advancement in my lung disease so quickly last winter. Which came first, the chicken or the egg? The fibrosis or the cough? I’m not totally sure, but I don’t think the cough helped at all! Thus, when I start coughing again with that kind of cough that makes your chest vibrate, all I can think about is little blood vessels breaking in my lungs and little traumas egging on the advancing pulmonary fibrosis.

The only thing that seems to work for the cough is Codeine. If you take it all the time, you get so you can tolerate it better and it doesn’t make you as sleepy all the time. I hadn’t needed it in months though, so I had stopped taking it. I don’t want to take a narcotic if I don’t need it. So, when I took it last week again, it knocked me on my butt!

Last weekend I didn’t go anywhere. I didn’t do shopping or go to church or even walk Finley until Sunday evening. I just slept. I’d wake up to go to the bathroom, perhaps try to start working on something, and as soon as I would sit in a chair, I’d just fall asleep right there.

The up side of that is I slept soooo good!!!!! Sleeping is a hard thing for me for a variety of reasons and medical issues. It is rare that I get a complete night of sleep. So, two nights in a row was like heaven!

The other good news is I seem to have adapted to the medication change and am not feeling queasy all the time anymore. I'm hoping to get back on track with my diet and exercise program. It was hard to even eat 800 calories a day when you constantly feel as though as you're going to be hung over the toilet at any moment. You'd think that would be good for a diet, but actually, if this goes on for weeks (as it did) your body goes into starvation mode. I also lost some conditioning because I wasn't able to exercise as much. 

This week I'm sort of starting over. Last week I was feeling better, but also sort of felt like my system was readjusting its self. The good news is I didn't gain any additional weight. The bad news is I also didn't lose any weight last month either. I can't even tell you how frustrating that was and is. It wouldn't be such a big thing if I was working on this for appearance or general health, but in my situation, I'm on a deadline here!!! 

Monday, September 15, 2014

Hundred People Search

We have added two new HPSers to the patient registry. This puts us at 89 to go on this year's Hundred People Search - HPS. 

Wednesday, September 03, 2014

The fish and the loaves

A few weeks ago I was talking to a friend of mine. I was expressing my anxiety about all of the things ahead for the HPS Network, all of the doors opening up for us, but the need to have the funds to walk through those doors. While I can work on promoting funding the HPS Network generally, right now raising money for my medical needs is taking priority on a personal level. How do we help the HPS community understand what it takes to make these things happen?

It’s a bigger challenge than you might think. Sometimes there is so much going on that it’s hard to take time to keep everyone in the loop, let alone help them really understand what it took to make things happen. We’d always rather be doing instead of telling everyone what we’ve done, yet if we don’t get better at explaining the process, how can we expect everyone to understand what it takes to keep the journey to the cure moving forward?

Research doesn’t just happen by magic. It takes money to not only fund the actual research, but the infrastructure to make that research possible.

My friend told me about a homily her priest had given that Sunday about the fish and the loaves of bread to feed the thousands.

I think we’re pretty good about making our money stretch and stretch and stretch. We have accomplished a lot with far fewer resources than it should have taken to come this far. It could be scary, or reassuring (depending on your outlook) to know how much of the quest for the cure for HPS happens on acts of faith. We commit on faith that we will be able to rise to the occasion when the time comes. Somehow, it always works out.

As I thought about the fish and the loaves, however, I couldn’t help but think even Jesus had a few fish and loaves to start with to feed the thousands. The more I thought about it, the more it occurred to me that, perhaps with the exception of creating the world, even God needs some buy in to make miracles happen. He needs some loaves and fish to start with, or some water to turn into wine or some faith to raise the dead.

If even God needs that, then how can we ever expect to find a treatment, and one day a cure, for HPS without making an investment in the process? Lord knows the HPS Network doesn’t have the powers of God!

If we, as people touched by HPS, can’t invest in our future, how then can we expect the greater world to just take care of it? It just doesn’t work that way.

For now, I’m trying to have faith that more of us will take on funding the cure however we can. I don’t like praying to God as though he is some sort of wish-granting genie, but I am praying for guidance and wisdom for our community to help us reach the challenges ahead of us.

Tuesday, September 02, 2014

Health update:

Just a quick update! Things are plugging right along here. I’ve had a lot of stomach upset the last two weeks, especially last week. Yesterday and today it was much better, so hopefully we are over that little speed bump. Besides that, there isn’t much to report. Yeah! Yep, that’s my goal – to have the most boring medical life possible!!! Grin!