Today was quite a day. I’m usually on the edge on Thursdays because my newsletter goes out at work. Our intern has been helping to put it out all summer, and I got spoiled. Today was the first day I had to do it myself. We were down three news stories, and NOTHING was going on.
Then, in the midst of everything I got a call from Sue at the Hermansky-Pudlak Syndrome Network. Donna’s on vacation and Sue wanted to ask my opinion about what to tell a family that had called in for some help. I only know the sketchy details and even though I don’t even know the names involved, I’m not going to get into it as we go out of our way to respect privacy and HPS’ers don’t appear here unless they’ve approved it. My best advice, by the way, was to call Kevin at NIH.
But, the situation reminded me so much of what our family went through back in 1993. Mysterious symptoms that don’t seem to get better. Lots of poking and prodding as the doctors try desperately to figure out what they’re dealing with, and all the while the situation just gets worse and worse. Looking back, it’s a total God thing that I’m here today.
I remember being 19 and sitting in the doctor’s office with my mom as he told me I had Crohn’s disease (unaware it was the colitis of HPS.) I remember my mom, worried that this wasn’t good news, telling the doctor how “special” I was, pointing to various academic and personal achievements. I knew she was trying to make me stand out to this doctor, trying to get him emotionally involved in my overall outcome. “She’s a chip off the old block eh,” the doctor said, “No,” mom answered, “I never did that well.”
And a year and a half later when I was in the hospital essentially bleeding to death from my colitis, my mom made sure everyone involved in my case knew everything about me. I get choked up just thinking what that must have been like for her. I know the doctors didn’t hold out too much hope as family converged on the hospital from the four corners of the Earth. When mom sent for my brother in Germany (and allowed him to miss a month of school), I knew the situation was grave even if no one would admit it to me.
But, thank God, one hematologist on the ball managed to make a very good educated guess. I got a platelet transfusion before having ostomy surgery, and am doing great today.
The other thing that struck me (besides getting choked up remembering what it was like to be in the midst of this situation), was how much things have changed since 1993. Back then, although I didn’t know it, there were only 25 known cases of HPS outside of Puerto Rico. Today, we have more than that on the HPS adult listserv alone, and several hundred families on our database.
Back then, heavy doses of steroids were the only treatment option, and they didn’t work for very long. Today, however, there are a few other options that can be tried. Remicade, for example, has worked for several people that I know.
It made me think about the drug trial again too. When I was officially diagnosed with HPS four years ago, I had no options for the lung complications. Today, we’re doing the last trial necessary before getting FDA approval for the first treatment for the lung problems associated with some types of HPS. I sat at my desk, trying to work on my newsletter, and thought of some of the people I’ve known during these past four years that aren’t with us anymore. They’re the ones that paved the way so that I’ve got this opportunity for a treatment. We are all so connected to one another, we HPS’ers, even if we don’t know each other. And it’s those connections that are going to make tomorrow different from today.
I only wish this family, where ever they are, could have been spared some of the trauma they're experiencing now. But hopefully, our collective experiences will shed some light on how to come out the other side healthy and happy. Please say a prayer for them, where ever they might be.
Then, in the midst of everything I got a call from Sue at the Hermansky-Pudlak Syndrome Network. Donna’s on vacation and Sue wanted to ask my opinion about what to tell a family that had called in for some help. I only know the sketchy details and even though I don’t even know the names involved, I’m not going to get into it as we go out of our way to respect privacy and HPS’ers don’t appear here unless they’ve approved it. My best advice, by the way, was to call Kevin at NIH.
But, the situation reminded me so much of what our family went through back in 1993. Mysterious symptoms that don’t seem to get better. Lots of poking and prodding as the doctors try desperately to figure out what they’re dealing with, and all the while the situation just gets worse and worse. Looking back, it’s a total God thing that I’m here today.
I remember being 19 and sitting in the doctor’s office with my mom as he told me I had Crohn’s disease (unaware it was the colitis of HPS.) I remember my mom, worried that this wasn’t good news, telling the doctor how “special” I was, pointing to various academic and personal achievements. I knew she was trying to make me stand out to this doctor, trying to get him emotionally involved in my overall outcome. “She’s a chip off the old block eh,” the doctor said, “No,” mom answered, “I never did that well.”
And a year and a half later when I was in the hospital essentially bleeding to death from my colitis, my mom made sure everyone involved in my case knew everything about me. I get choked up just thinking what that must have been like for her. I know the doctors didn’t hold out too much hope as family converged on the hospital from the four corners of the Earth. When mom sent for my brother in Germany (and allowed him to miss a month of school), I knew the situation was grave even if no one would admit it to me.
But, thank God, one hematologist on the ball managed to make a very good educated guess. I got a platelet transfusion before having ostomy surgery, and am doing great today.
The other thing that struck me (besides getting choked up remembering what it was like to be in the midst of this situation), was how much things have changed since 1993. Back then, although I didn’t know it, there were only 25 known cases of HPS outside of Puerto Rico. Today, we have more than that on the HPS adult listserv alone, and several hundred families on our database.
Back then, heavy doses of steroids were the only treatment option, and they didn’t work for very long. Today, however, there are a few other options that can be tried. Remicade, for example, has worked for several people that I know.
It made me think about the drug trial again too. When I was officially diagnosed with HPS four years ago, I had no options for the lung complications. Today, we’re doing the last trial necessary before getting FDA approval for the first treatment for the lung problems associated with some types of HPS. I sat at my desk, trying to work on my newsletter, and thought of some of the people I’ve known during these past four years that aren’t with us anymore. They’re the ones that paved the way so that I’ve got this opportunity for a treatment. We are all so connected to one another, we HPS’ers, even if we don’t know each other. And it’s those connections that are going to make tomorrow different from today.
I only wish this family, where ever they are, could have been spared some of the trauma they're experiencing now. But hopefully, our collective experiences will shed some light on how to come out the other side healthy and happy. Please say a prayer for them, where ever they might be.
Comments
You know I read your blog quite often, every day or two, and it never ceases to amaze me the truly wonderful person you are. YOu survived all what you went through for a reason ya know, you are truly special and I am so happy you are my friend. It makes me feel great to know I can pick up the phone and call you and you'll just listen. Its not always easy not having a diagnoses but just knowing you has changed me life so much I can't begin to tell you.
Thanks Heather, please keep being you cause the world can certainly use more people like youi in it.
I do pray for this new family you mentioned and I believe they too will be happy to know you.
ROCK ON CHICKIE.
BIG HUGS