Monday, November 23, 2015

Hundred People Search Update

This update is long overdue. With all of my medical stuff, plus all that is going on with the HPS Network right now, I've missed a few e-mails. I found one that Donna had sent me that I hadn't counted. So, we are now at 72 to go on this year's Hundred People Search. 

Sippin to save lives

The Brantner family is another family that frequently has fundraisers. Words are never enough to thank them. I really wish I could have been that this one! You know wine (in moderation) is high in anti oxidants. They tell us these are good for our lungs. For years a number of HPSers have been ready and willing to volunteer for that clinical trial! Grin!!!! 

Check out the cool wine bottle labels designed by Kylee, one of our younger HPSers. Her mom is the one that organized this great event. Read more about it here:

Wednesday, November 18, 2015

It is fundraising season

I'so behind on so much!!! But, here's a quick blog shout out to the Klein family - Jeff and Amber. They are fundraising warriors! They have a fundraiser, it seems, like every month. They have some incredibly loyal friends that help. Thank you so much for all of your hard work! 

One of the biggest obstacles the Network faces right now is funding. We are growing and our opportunities are growing, but our funds have to keep pace. Right now, even though the total funds raised for the last year is up, the budget demands to maintain our current programs has gone up more. 

Thanks to Jeff and Amber, and to all of our fundraisers. You all are awesome! 

Thursday, November 12, 2015

Changes underway at NIH – new path toward the cure

As many of you know, I just returned from the National Institutes of Health. During my visit (with my good friend Jessica) we were able to have a long talk with Kevin O’Brien, the nurse practitioner that takes care of patients with Hermansky-Pudlak Syndrome or HPS. He asked us to convey a message back to the HPS community. We are, of course, happy to help.

In the past HPS patients have grown accustomed to being inpatient at the NIH (especially the HPS adults). There were reasons why this was done in the past. To be honest, I used to like being inpatient. It gave me one place to put my things. There was no schlepping things back and forth. It was easier to get some work done at NIH when you have a base of operations, sort of speak, and then came and went to tests as needed. For most of us, however, there really isn’t a medical reason for being inpatient. We know much more about HPS and thus we don’t generally have as many tests or need as much observation.

There are practical reasons for the change as well. When we are inpatient, it costs more to the HPS research budget. It means more work and more paperwork for Kevin and Dr. Gochuico who care for us. That extra time is time they are not spending publishing some of what we have learned from HPSers in the past, or on working on lab projects for the future.

We need the research to move forward. We need to use our resources as wisely as possible. We need more bang for those very limited bucks.

Visits will be shorter. They might seem less personal. It will look much more like going to see a doctor for a visit than going to the hospital.

This change isn’t going to be easy, especially for those of us accustomed to the royal treatment at NIH. Kevin is not going to be able to find medical issues you might not have been aware of and run extra tests or help with extra treatments outside of the narrow scope of the current research protocols.

Kevin, and the docs, are worried about how the HPS community is going to take this. They are worried the changes might be perceived as a slight – as though somehow the NIH doesn’t need us or love us as much as they once did. People used to having Kevin at their bedside several times a day might feel ignored if they see him only briefly during their stay.

It isn’t a lack of love! It’s a need to do more for us. The NIH, just as the HPS community, is very, very saddened by all of our losses this year. Unless they can find more money or more staff, (something that won’t change in the government system quickly) they’ve got to find other ways to make more time and free up more funds.

If Kevin doesn’t have to care for patients in the inpatient unit, but rather at the day hospital or in the clinic, then he will have more time to work on academic papers about HPS. We really need some of those papers!

So, let’s band together – the NIH and us, the patients, to push forward. Let’s honor the memories of our recently lost friends by being research warriors. Many of them were active participants in the research. I know all of them would have wanted a better life for those of us left behind fighting this fight. They would have wanted a better life for the next generation of HPSers coming along.

Imagine a day when having HPS means something totally different than it does now. Only we can make that happen.

It will mean some rough trips as the kinks get worked out. Please reach out to the HPS Network and the HPS online community to find ways to strategize any challenges and make this happen.

The future is in our hands.


Health Update: Checking in with NIH

My friend Jessica and I in the car on the way to the National Institutes of Health

If I weren’t so tired, I’d be doing cartwheels.

That is saying something since, as a kid, I never managed to be able to do a cartwheel. My NIH visit couldn’t have gone any better unless they announced a way to reverse fibrosis (which isn’t here yet). My CT scan showed no changes since my last visit to NIH in May, 2014. That was when there were a lot of changes and I was told I needed to move and get ready for a lung transplant.

My pulmonary function tests were all within the margin of error, except the total lung capacity score. It hadn’t changed much on other recent pulmonary function tests, so perhaps it was a blip. We have to wait to see if there is a trend.

All of my blood work was perfect. My echo showed no signs of pulmonary hypertension, so if they find something on the heart catheterization we are planning soon, then it will be very mild and early stages – the best time to treat it.

I don’t think I moved too soon. This is amazing because it wasn’t supposed to happen. I think the medication I have been taking is helping. It just makes me less panicked about being ready for transplant in time. We have no idea how long this will last, so it doesn't remove the urgency - just some of the worry.


I have noticed some increase in my oxygen needs, but this may be due to one of the new medications they put me on….stay tuned.

Monday, November 02, 2015

Hundred People Search update

We've added another HPSer to the patient registry. This puts us at 73 to go on this year's Hundred People Search (HPS). 

Wednesday, October 28, 2015

Moving the cure forward

The fall and Christmas season are our biggest fundraising times of year. That is true for a lot of non-profits. Maybe people are in the giving spirit. Maybe they are thinking about tax deductions at the end of the year. Whatever it is, thank God for the donors, and thank God for the HPSers and supporters that help us with fundraisers! There will be no cure without all of you!

The HPS Network is growing and evolving. The opportunities for us out there to get closer to treatments, and a cure, are so many that we can’t even take advantage of them all. But, our budget has to keep up.

Soon we will be facing some hard choices. We are at a point that we need a full time nurse who is able to work on center recruitment and families who need help. Donna just can’t do it all. All of our part-time staff works for way, way, way under market value for their talents and positions. We are so lucky to have people so vested in our cause, and for whom making a difference is so important, that they are willing (or able) to work for so little. Still, we can’t keep moving forward as an organization relying on people able to work for peanuts. We need to pay enough that someone could actually pay their basic bills and work for us.

Right now, looking at our budget, the only way I see us able to do this is if we do not fund another American Thoracic Society grant. That is sooooo sad! These grants have done so much to move the research. They have had a tremendous return on investment!

Consider that the first junior researcher we funded with $30,000 a year for two years was Dr. Lisa Young. She turned her initial research that we helped fund (matched by the American Thoracic Society) into a $770,000 grant, and then a $2 million NIH grant. She is now leading the project to open the HPS research centers. Talk about a bargain!

The problem is we want to turn all of this research into clinical trials at some stage. We need to move it from the lab to trials and then to real treatments for real HPSers. If we don’t get some help in the office, we simply aren’t going to be able to do that. We won’t be able to take the investments made before now and turn them into real results for patients someday.

I blog about this only because in this fundraising season, I want us all to understand what choices we face. I want us all to understand how important fundraising is, and how we need everyone’s help! How much you raise isn’t important. It is a group effort.

If we don’t want to lose the research engine that the ATS grants have been, but still keep us moving forward toward another trial, then we need to increase our budget next year by at least $80,000.

The reality is HPS is rare. The people who care about curing it are the ones affected by it. It is up to us. It is on our hands. Please, help us keep moving forward to the cure!

Saturday, October 17, 2015

Health Update: First transplant appointment

This week I had my first appointment at the transplant center. I was so nervous! I don’t know why as I knew it was pretty much a meet-and-greet and all they would do was a six-minute walk and pulmonary function tests – but still, there’s a lot riding on this!

I think the appointment went as well as it could have! My pulmonary function tests were unchanged. Actually the numbers were up a tad, but within the margin of error so officially it is unchanged. Still, I like being on the upper end of that margin more than being at the lower end. My six-minute-walk was pretty much what I knew it would be. I just did one for pulmonary rehab and I walk all the time, so wasn’t expecting any major issues there.

I was thrilled that I got to see Dr. Nathan. He runs the lung transplant program, and I know him from the American Thoracic Society. I’ve taken his class on diagnosing pulmonary fibrosis (not for CMEs since I’m not a doctor) several times. I’ve been joking with him for years that I was coming his direction and I would be his patient one day. Grin!

I have my next appointment with the transplant center in three months. In the meantime, I have a LOT of tests and specialist appointments to get done – about 17 assuming no new issues arise.

I was thrilled that they are willing to start the work up because I haven’t met my weight loss goal yet. Often centers want you to be at least closer to the goal before they start doing all of these tests.

I think that is as well as the appointment could have gone. It was exhausting even though mostly we sat in waiting rooms. It did give Ryan and I a chance to talk a lot. Ryan even got to come home with me and play with Finley a little bit. I was really happy about that. I want Finley to know who he is just in case Ryan needs to let someone in to take care of him etc.

The crazy thing is that when Dr. Nathan told me I was in the range of test results that they do consider for lung transplant, it sort of hit me between the eyes. I guess it just makes it more real. Still, that is the reason I’ve moved and the reason I’m there. I know I’m in that range. I wasn’t even thinking that I hoped he’d say I’m not there yet because I know I am, and I know how quickly things can change. I wasn’t expecting to react like that.

Please keep us in your prayers. This process is going to be very hard on my family as well as me.

Sunday, October 11, 2015

Hundred People Search

We have added another HPSer to the patient registry. This puts us at 74 to go on this year's Hundred People Search (H.P.S). 

Thursday, October 08, 2015

Health Update

Things are going well after a bumpy period. The good news is I got into the maintenance pulmonary rehabilitation program and so was able to keep my little Inogen concentrator a bit longer (and be more mobile). I am so grateful as it makes a huge difference in my independence and ability to have something more similar to a normal life. I’m also grateful to the pulmonary rehabilitation program at Inova Fairfax. They’ve been awesome!!!!

I had a very nasty upper respiratory infection and double ear infection a few weeks back. That was scary. At this point, any infection in my lungs can cause me to lose ground I don’t get back. I needed to wear oxygen more than is normal for me. Normally I can walk around my apartment without it. When I got the infection, I couldn’t even walk from my bed to the bathroom (a few feet) without oxygen.

Praise be to God I’ve been able to get back as much function as I had before the infection. I’m not sure what my PFTs or CT will show, but as far as what I can tell a functional difference in, we are back to where we were before the infection. That is a huge relief, although the recovery took several weeks.

I know people sometimes think I’m being overzealous about the germs and fearing getting a cold, but this is why. What was for most people a spring cold was very scary and dangerous for me.