Living on the frontlines

I’m going through one of those periods where I’m afraid someone will try to be really nice and drop by to visit me. If they did, they’d find a pile of clean, but unfolded clothes on the couch. Dirty dishes are piled in the sink, and clean ones are in the dish washer. There’s a stack of press releases from work I need to go through to decide if we can use any of them in one of the living room chairs. There’s a box of paperwork I’m in the process of sorting as part of my campaign to get rid of some of the boxes in my closets sitting by the TV. The carpet is sorely in need of being vacuumed, and the dust is so thick that even I can see it. I think if anyone dropped by I’d just pretend I’m not home. How do people do it? Why is it that everyone else can seem to juggle life, and I’m constantly overwhelmed by it? Friday I stayed home from work part of the day. During the night Thursday I woke up feeling very sick to my stomach. As I climbed out of bed I vomited right there on my feet. There’s...

My life, and my ability to blog and stay on top of HPSland, have been somewhat hampered lately by my ailing computer. My computer is going on eight or nine years old. Like anyone dying of old age, it’s slowly winding down. It shuts its self off in protest frequently, runs much slower than it ever did, makes odd whirring noises and I can’t even defrag the drive anymore because it freezes up half way through. I’ve been saving money for a new computer for a long time. I don’t know a lot about computers. For me, it’s a foreign language – but I know what I want it to do. Periodically I’ve shopped for my new baby. But for now, things are so up in the air in my life that I can’t make any commitments, not even to a piece of machinery. Resources are too precious to spend without extreme caution. So, to tide me over these next few months, Ryan and Matt have come to the rescue. My brother Ryan just bought what sounds like the Royal’s Royce of computerland. He no longer needs his five-year-old lap...

There has been some discussion lately among some of the HPS parents about their young children beginning to realize that they're a bit different than everyone else. Some of the kids are becoming aware that they don't see as well as everyone else, or that they look a bit different. The discussion made me think of an essay I wrote 10 years ago. To be honest, today I'd probably write this a bit differently - but I thought I'd share it anyway. I’ve Got the Power By Heather Kirkwood To say that one is different, unique or even odd isn’t saying much. It is, after all, part of the human condition that no two people, not even identical twins, are exactly alike. The one thing we universally share are our differences–our individual blends of DNA and life experience that shape our tastes and outlook on the world. When people come together, however, it is most often our similarities, not our differences, which cause us to commune with one another. Our common in...

Let’s send a big KUDOS and Thank You out to the musical group “J.” Weekend before last this group, based in the Oyster Bay area on Long Island, held two benefit concerts for the HPS Network. They typically hold a benefit concert for us around Christmas time, but this year decided to do an extra event. The fundraiser was very successful! I don’t know how many years this musical group (they were known as Three’s Harmony before they became “J”) has been raising money for the HPS Network. It has to have been more than five years. To date, they are the second largest HPS fundraisers. Over the years, they’ve now raised more than $80,000 for us. What’s perhaps even more amazing is that no one in their family has HPS. They simply saw our need and have always done what they could to fill it. Now their mom even volunteers in the HPS office. THANK YOU “J”!

In the last four months the number of medications I’m taking seems to be multiplying like rabbits. The good news is I think they’re working. I may not feel perfect (maybe never will) but I definitely feel better. Currently I’m taking 10 different meds daily (although I hope when fall arrives I can drop three of them that are allergy related) and I’ve got five others I keep around for particularly bad days just in case. Frankly, managing that many pills is a chore. The study drug is easy. It’s become so engrained in my routine now that I don’t even think about it. The other drugs, however, have been in such a state of flux as we experimented trying to find just the right mix that it’s easy to get confused. Not only are there a lot of them, but each one has its “rules.” I don’t think breaking the rules is a major crisis, but obeying them tends to help the drugs work better. Some medications are to be taken so many minutes before eating. Others are to be taken with food. Some medications ...

As regular blog readers know, the HPS Network has supported the passage of GINA for years. Allowing people to seek genetic testing, free from worries about future possible discrimination, is critical. For many disorders, without genetic testing people can’t get an accurate diagnosis, and thus accurate treatment. For others, genetic testing is critical to being able to participate in clinical research. As I outlined in an earlier post, the test for the HPS type of albinism isn’t a genetic test. It’s a blood test. However, for patients to participate in certain clinical trials it becomes necessary to type test. For many, even these tests don’t yield any answers. We haven’t yet identified all of the HPS genes so there are undoubtedly several types of HPS not yet documented in the literature. But, for others like me, genetic testing did yield some answers and has allowed me to participate in the drug trial. But, if Americans are afraid that the results of genetic tests will be used against...

If there ever was a danger that we’d get complacent in this battle with Hermansky-Pudlak Syndrome, there’s always some new story, some new patient’s experience, that comes along, rattles our cage, and reminds us of how much work there is still to do. Yesterday I received an e-mail from a woman I’ve e-mailed back and forth with on and off for several months now. I can’t get into specifics for privacy reasons – however, this woman could be the poster child for the HPS type of albinism. She doesn’t have just a few of the symptoms – she’s got them all. I sent her information about how to get tested. While testing for HPS is relatively easy, it’s not a test the average lab can perform. The blood must be sent to Dr. White at the University of Minnesota and reviewed under an electron microscope. Dr. White looks at the platelets with this special, high-powered microscope. If they lack dense bodies and the patient has albinism, then they’ve got HPS. Dr. White does the test for free. All any doc...