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The Hermansky-Pudlak Syndrome Conference – gaining a second family

So, Katy asked to hear more about the HPS Conference, and as I’ve been packing tonight my mind has been a flutter as to where to start. What’s so great about the HPS Family Conference? I could generate quite a list!

But, for starters I think one of the greatest things about going to conference is seeing my second family. Many of my HPS friends are like a second family, and sometimes they know me better than my own family!

When I was first “officially” diagnosed with HPS it was not only devastating – it was the loneliest feeling in the world. At the time I had a good friend that was a breast cancer survivor. Trying her very best to be supportive and feeling as though she’d walked in my shoes – she tried to offer a hopeful outlook. I politely listened, but inside I wanted to scream at her.

How dare she presume to know what this was like? There’s a treatment for breast cancer. All this survivor speak had a root in something that was actually hopeful because there was something she could actually do to get better. Maybe it wouldn’t work, but she had a chance. She had a hope of a cure. The lung disease of HPS has no treatment. How did she know what I felt? How did she know what it was like to have a disease so rare that I couldn’t even find a local doctor who’d heard of it, let alone treated it? How did she know what it was like to have all your hopes pinned on a few researchers that could be counted on two hands? How did she know what it was like to have the momentum of interest in your disease depending on a mom who was running a patient advocacy group off the old dining room table in her basement and counseling patients while chopping carrots in her kitchen? (That’s no slight to Donna – I just didn’t know her yet!)

There were no celebrities wearing HPS ribbons and holding celebrity auction fundraisers for my disease. There was no foundation, no single person working full time to further our cause. I didn’t mean to belittle my friend’s experience, her courage, her battle or her success. I just felt like she couldn’t really understand the position I was in and how scary it really was.

There was no local support group. I tried to look for something similar, something “close enough” but the groups I found for lung disease met in the middle of the work day and were full of old people.

Everything I read was so scary. I desperately wanted to talk to someone who’d been there. I wanted to talk to someone who really was in my shoes. I wanted to know what I could expect.

To be honest, I was a bit afraid to go to my first HPS Family Conference. I expected to see a lot of very sick people. I was afraid that it would be depressing.

What I actually found, however, was so positive, so hopeful, so reassuring that it turned my perception of my situation around 180 degrees.

Yes, I found people who’d walked in my shoes. And yes, there were a few very sick people there. But, there were also lots of people who were doing quite well. There were people doing all sorts of great things with their lives. There were people full of hope and optimism and spunk. There were people who’d been through what I’d been through and when we talked, it seemed like there was a deeper understanding than I’d experienced anywhere else. I didn’t have to explain a thing. And, maybe best of all, there were lots and lots of people who weren’t anything like the people I’d read about in the medical literature. They weren’t hopelessly ill. They were planning for and dreaming of a future with steadfast confidence.

I’ve never had so much productive, life-altering time in a bar in all my life! Hanging out in the bar, or in the lobby, or eating lunch with new people and making new friends was invaluable. That’s actually when Karen Tillman and I met. I remember sitting outside the Saturday night dance with Karen that year and swapping ostomy stories. I’d never known anyone else even close to my age with an ostomy, and she’d had hers since she was 13.

These people got it all. They didn’t just understand low vision, or what it was like to look different, or what it was like to live with GI problems or what it was like to have lung disease. They knew all of it.

And the sessions were equally affirming. I learned that daring to think of the possibility of a treatment, or even a cure, wasn’t a misplaced pipe dream cooked up by people who couldn’t cope with reality. There really were exciting developments taking place in the research and I had the chance to meet with, and question, all the doctors’ I’d been reading about. My future wasn’t so firmly written in stone as I’d thought.

Perhaps best of all, I learned there was something I could do to help. Understanding how the Network operates is very helpful to understanding how best to help. And, being able to be a part of the cure is probably one of the best treatments out there!


Now, I look forward to the HPS Conference every year. I look forward to seeing my friends again, and with those friends, even if we never speak of HPS, I feel as though I can completely be myself. There's no secret part of myself that they can't understand. I can hardly wait!

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