Thursday, April 10, 2014

Camacho speaks at Massachusetts Statehouse

Carmen has been a dear HPS friend of mine for many, many years now. She is really doing great things for HPS and HPSers in New England. I'd urge you to get involved! I'm posting the Network news story. It also includes the speech Carmen gave where she shares her HPS story. 

Read here: 

Thursday, April 03, 2014


One of the things I think people look forward to most about the HPS Network Conference is finally meeting someone else who has walked in their shoes. 

A few pics from the conference!

Okay, when I update the blog, it picks up whatever photo I posted last on social media. While I love my brother and niece, I posted that photo ages ago. I just haven't been posting many photos. So, here are a few change it up a bit. I'm not entirely sure who took this one. It might have been Ashley Appell. If it's yours and I'm not giving you proper credit, I'm sorry! 

This was a cool thing Matt and his friend that helped with conference IT set up. It is so those of us with crappy vision could have a shot at seeing who was talking across the room. I loved it! 

HPS Network receives award from American Thoracic Society

Today we were able to announce that the HPS Network was honored by an award from the American Thoracic Society. Needless to say, we are over the moon. You can read more about the award here

To me, as someone with Hermansky-Pudlak Syndrome, the award meant a lot, above and beyond all that it means to the Network. It meant that the community of lung researchers and doctors recognize the unique challenges the HPS community encounters. 

I must be careful to not seem ungrateful to all of those who have stepped up to help us over the years. There have been many and too many for me to begin to list here. Still, sometimes I'm surprised who is missing from that list. 

HPS is one of, if not the, most common genetic disorder among those of Puerto Rican heritage. Yet, major celebrities and civic organizations have paid us little attention over the years, often focusing on more common disorders such as cancer or diabetes (both worthy causes - don't misunderstand.) 

Still, when I think about those few people on this planet who could, with so little time and effort, completely change the course of our research and diagnosis; when I think about our numerous and many attempts over the years to engage them on an issue that is so uniquely Puerto Rican, all without ever even having any sort of response - well, after a while it gets hard not to take it personally. 

So, this award was special. If the celebs are ignoring us, at least the ATS community isn't. Perhaps with this feather on our non-profit resume, one day the celebs will notice. We need them too. Our lives are depending on it. 

Monday, March 31, 2014

It is more than a conference

The 21st Annual HPS Network Conference has come and gone. What an awesome event. It’s hard to believe it was my 12th conference! I have several things I want to blog about from the event (and you should see the notebook with things I intend to blog about but never seem to get to….I’m going to need a new notebook soon!). 

That being said, I wanted to start out with a personal THANK YOU to everyone who was able to make it to New York. You have no idea what your being there does to push things along for the cure. 

I know it isn’t easy getting to New York. It’s expensive. It takes fundraising and scholarships for many. It means missing work or school or finding caretakers for other responsibilities. In short, it’s not easy! 

Some of us just can’t make it. I totally understand that and in no way mean this as an admonishment if you couldn’t be there. I get it – don’t worry. 

But, for those who were able to make it, THANK YOU. 

The HPS Network conference is more than just a conference. Most of us look forward to the obvious stuff – to seeing friends and making new ones; to dancing and fellowship and to learning something new about the science of HPS. Those are all great things about conference. I look forward to them too. 

Honestly, however, if that were all that the weekend was about, we would have to re-evaluate whether it’s in the best interest of the cure to have the conference every year. It takes about $60,000 to produce the event (and that’s with a lot of our expenses donated.) Is it a wise use of our limited funding? 

I argue yes! 

For those who were able to make it, your being there has helped our science. There is nothing so moving for researchers than to look out on an audience of us – hundreds of us – and know that we are counting on them to help us. Sadly, someday when someone finds a treatment, or a cure, for HPS they likely won’t win tons of awards or become famous. It won’t be like the guy (or the team) that cures cancer or diabetes. Thus, those personal connections that our researchers feel with us are important. Hearing our stories, seeing us with each other – it reminds them how important their work is to us. 

Many of our researchers work on multiple diseases and thus HPS competes for their time. Knowing that every year we are so anxious to find out what they’ve learned in the past 12 months probably also helps to urge along matters. 

Others work on animal models like mice or zebra fish and don’t get to see the humans they are helping very often, if at all. 

This year the number of researchers at the conference grew. We had a formal scientific workshop at the conference, as opposed to the informal science meeting we’ve had in the past. There were researchers and doctors walking the halls who might have never known about HPS before, but who possess an expertise we need to put the puzzle together. Sitting with all of you at dinner, dancing with you or listening to you in sessions helps them to understand how much we value and need them. 
I am thankful for the things you might expect that come out of conference. I’m thankful newly diagnosed patients have a chance to meet others who have known about HPS for some time. I’m thankful that people form friendships that end up being great sources of support. I’m thankful for getting to see everyone (although these days I’m so busy at conference I hardly get to talk to anyone). I’m thankful that the kids have a chance to meet one another and form lifelong friendships. I’m thankful HPSers learn about new science and new information to keep them healthy and to help them be better self advocates. 

But, it’s the impact on science – that elusive and hard to measure thing that happens – that makes it all worthwhile. 

Wednesday, March 19, 2014

Hundred People Search Summary and Update

The 21st annual HPS Conference is behind us, which means it's time to start the year's Hundred People Search (H.P.S.) over again. For the last year, we added a total of 66 new HPSers to the patient registry. That fell short of our record by five. 

This might not sound like a lot, but for a disease many of us were told we couldn't have because it is so rare, it is. Also, consider that this is more than one family diagnosed a week. Gladly, we help more families than this get tested every week. Many more test negative and can go away happily knowing HPS is something they need not worry about. 

Let me be clear. I would never want anyone to have HPS. It's my hope that we find the cure and none of us have to have it. However, having HPS and not knowing it can be so dangerous! Accurate diagnosis is so important. 

That is why we issue the Hundred People Search challenge every year. It's up to us - the membership of the HPS Network - to be the voice to help others get an accurate diagnosis. 

One step more than that, it is very important that people with HPS around the world be on the Network's patient registry. Not everyone can be seen at NIH. Because NIH is a government institution, they can not be seen to solicit research participation by patients. There are all these rules that govern what they can and cannot do. Thus, it is up to us. 

Being on the registry means that when there are important developments (like say someday a treatment) we can find you and let you know. 

Thus, it is important to not only be on the registry, but to keep those contact details up to date! 

Sunday, March 16, 2014

Kudos to Donna and Jasmine!

Here's a big kudos to Donna and Jasmine who did a TV interview on TelecareTV right before the annual conference. Rare Disease Day was tough this year for me (as the social media person) and the office as it fell right before our annual conference. The timing couldn't have been worse to make the most of the day. 

So, thanks to these two for making this happen. (And more posts on other Rare Disease Day activities HPSers did to come!) 

Here's a little write up on the HPS site about the show, and a link if you want to watch it.

2014 Saturday Lung Transplant panel at HPS Conference

As usual, I"m so behind on blogging. This is something I really wanted to get up. We tried to do some live streaming from conference for the first time this year. Well, we ran into some unexpected technical difficulties, so much of the streaming didn't work. Luckily, perhaps the session I was hoping would work the most did somehow live stream and the HPS Network was able to archive it for future viewing. 

This is Nancy and Rebecca, two HPSers that have had lung transplants, talking about their experiences. They talk about what to expect through the evaluation process as well as pre and post transplant. It's something anyone with Hermansky-Pudlak Syndrome hoping to have a lung transplant, or hoping to support someone through lung transplant, ought to see. Obviously they couldn't hit on everything in 45 minutes, but it's an awesome overview of what may be ahead. 

For many of us (and possibly me) lung transplant may still not be an option. We need better treatments. We need a cure! But still, when I was first diagnosed, lung transplant centers had outright refused HPSers. We didn't even get evaluated. They were afraid of the bleeding disorder. Now, at least it's a option for some. 

Here's the link:

Friday, February 28, 2014

Another step on the road to a treatment

Many of you that follow these things closely will have already seen this news yesterday - but since it means a little something different for us, I wanted to share.

Intermune (the company that makes the drug pirfenidone, brand name Esbriet) announced the results of their ASCEND trial yesterday and they were good! This means that the company will be moving forward to try to get FDA approval for the drug to treat IPF (idiopathic pulmonary fibrosis).

So, for those who haven't followed this saga or for the new folks, here's a little background on all this and the tie-in for HPS.

Back in the late 90s the NIH conducted a small phase II trial of this drug to treat the PF of HPS. The results were promising. It is NOT a cure, but did slow down the progression of the lung disease.

We were ready to do our phase III trial, but the drug was sold to another company and our trials were put on hold for several years (very frustrating). Finally, in 2006 we were able to start our phase III trial. Sadly, in 2009 the trial was halted half way through because the review board at NIH felt that the study, as constructed, would never be able to prove whether the drug worked. (It was not halted because the drug didn't work, only because our study would not be able to prove it.)

This is part of the challenge of rare diseases. When you have trials with such small numbers, one little thing can statistically really throw things off.

The much larger phase III trials for IPF continued around the world. In the US there were two trials. One showed benefit and the other was inconclusive. Even though the FDA's own review board recommended approval, the FDA required the drug company to conduct yet another phase III trial. Meanwhile, around the world other countries have been approving the drug and it is in use overseas.

While this was going on, there have been some slow reforms happening at the FDA. You all might remember signing a petition about a year ago asking the FDA to add pulmonary fibrosis to a list of 16 diseases that would be getting special attention because of their severe impact on patients and lack of other treatment options. Originally, PF wasn't even on the list of diseases to be evaluated for this program.

The PF community, (other PF organizations and the Network) got so many signatures on that petition that PF was not only considered, but made the final list. This was important because now the FDA will be under even more pressure to get treatments for PF to market.

So, then yesterday the results of the extra phase III study were announced. They were very exciting and positive.

Intermune says it plans to resubmit their application for approval by the third quarter of this year and they are estimating that it will take the FDA six months to review it (this is on a fast track as it can otherwise take a year or two at least.) The company is hopeful that they will bring the drug to the US market by the second quarter of 2015. Óf course, we've hoped for things before and been slowed up by snags in the system, but right now, that's the timeline.

So, here is where things may be tricky for us. It will approved for use in IPF, not HPS PF. This means it will be an off label use, thus insurance companies may be able to get out of paying for it for us. It is expected to cost around $50,000 a year, so coverage is a big deal! So, behind the scenes the Network is trying to get the stage set to advocate for us to also get access to this drug. We have several options and are already discussing them with our docs and outside resources to plot the best course forward.

I am very excited about this news because, while I think we have a battle ahead, we could not have even fought that battle if the results of yesterday's announcement had been negative. Now, we can get our ducks in a row and go into action! We will need EVERYONE's help with this. So, please pay attention to calls for advocacy coming up.

There is other good news here for HPSers around the world as well.

1. None of the data suggested any additional safety concerns with the drug. Also, Intermune reported that follow up studies on patients getting the drug overseas haven't yielded any additional concerns. There is a small percentage of people who develop some GI distress and/or a rash from the drug, and in some cases, had to stop taking it. In the now thousands and thousands of patients studied, there were two reports of liver toxicity, but it resolved as soon as the patients stopped taking the drug. Everyone is different and such things are to be expected with medications.

2. There are a number of countries overseas where the drug is approved, and thus legal, but the health care system isn't approving payment for the drug. These positive findings will help to further the case for coverage everywhere.

Again, this is not the cure. But, it does hold some promise to slow down the disease. We still have two patients from the phase II study who are living, taking the drug, and doing well.

It is likely that if the cure involves medications, it will eventually be several medications working together and not just one.

Still, I am on cloud nine! There are so many dark and disappointing days in this journey to the cure that you've got to celebrate the days when something moves us forward!

If you want to listen to the results yourself, go to the investor relations section of the Intermune website. The info they put out was designed for the investor market, not patients.

They also had more data they didn't share because they are planning on presenting it at the upcoming American Thoracic Society meeting. They are also trying to get the data into a medical journal. They didn't want to throw cold water on that process, which I totally understand. Grin!

Off to do another happy dance!

Thursday, February 20, 2014

Skyping with the kids - something new to blog about.

Photo: Ryan and Nevaeh on Adoption Day

This is a new subject for my blog! I’ve wanted to blog about it for a long time, but haven’t been able to because of the rules of the foster care system. Actually, who knows how much I could have, or could not have, said – thing is when in doubt I error on the side of caution.

In November my niece, Nevaeh’s, adoption was finally finalized. Woohoo! The process can take so long and be held up for months for something as simple as a signature. I got to be in Washington for National Adoption Day and the little ceremony with the judge at the court.

It was all rather anticlimactic as in my heart Nevaeh has been my niece since the moment she arrived at Ryan and Sara’s home. She had me wrapped around her cute little finger from the word go!

The ceremony didn’t seem like a huge deal to Nevaeh either. She was a bit irritated that we made her leave a tasty muffin at the reception to go into the courtroom. My nephew, (adoption not yet final so I won’t say much here) stole the show at the event. A woman from social services asked the kids in the audience what big day was coming up. It was right before Thanksgiving and Christmas. My darling nephew, however, stood up and announced he knew what important day was coming up – his birthday! He’d been inviting everyone he met to his party! Sadly, I wasn’t able to stay in town long enough for all of these important events.

After I got back from Washington I had some major life events of my own. Finley was waiting for me (more on that life event later) to be followed with a bout of illness etc. The HPS Network has been busier than ever so blogging has taken a back seat. Besides that, I’ve been trying to figure out what to say about Nevaeh’s adoption. It should be profound, wise, something really moving for my niece! Nothing so wonderful has come to mind. I realized this week that’s because the biggest events in our getting to know one another and becoming an important part of one another’s lives had nothing to do with a final signature on a piece of paper or a ceremony at the courthouse. They’ve been the countless little things that happened along the way when I wasn’t allowed to say much (or was afraid to for fear of causing problems).

As I said, she had me at hello.

Nevaeh was a darling baby. She always was, and still is, such a happy kid. Don’t get me wrong. She’s a baby and now a toddler and things make her unhappy, but they are only things in the moment. On the whole, she is all smiles. She’s curious. She can be a ham for my camera. I wonder if she’ll be musical because as soon as she could stand I swear she was trying to dance.

Finally, today was one of those little moments. I was able to skype briefly with all three kids. They just got back from a trip to Disneyland. Of course I’d heard about the trip from Ryan, but I wanted the kid view of the trip.

Nevaeh was the most excited to tell me all about it. She would start to tell me the names of the characters she saw but she would sometimes forget. Ryan would tell her the name in her ear and then she’d just beam and loudly proclaim, “I saw Winny the Pooh!” “I saw Minny Mouse!”…….what else is there to say more special than that?