At the end of every stay at the National Institutes of Health (NIH), the doctors do a “wrap up” session where they go over all your test results, explain what they mean, answer any questions, and give you copies to take home to your own doctor.
After a week’s stay the moment of truth arrived – the wrap up session. I was intent to make the most of this session. The way I saw it, I’d just donated a week of my time to the research, submitted to every test without complaint, and so I’d earned the right to spend some time with Dr. Gahl and pick his brain about everything I’d read over the summer. (Not he doesn’t gladly take the time to answer questions.) I’d written out three pages of questions. This was my big chance to talk to the world’s foremost expert – and I wasn’t going to blow it.
I remember the floor was quite full of patients that week, and so Dr. Gahl, his fellow, a small army of students and I walked up and down the hall trying to find an empty room to talk in private – or at least out of ear shot of my roommate. It seemed the only place available was what had clearly once been a conference room, but was now a depository for all the junk on the floor – unused IV poles, oxygen tanks, chairs, broken furniture, etc. We all sat at the conference table at the far end of the room. The florescent lights flickered – which really bothers my sensitive eyes. Because of all the junk, Dr. Gahl and the medical students all sat on one side of the table, and the fellow and I sat on the other side. It wasn’t by design, I know, but it was as if I was sitting before a committee – something that might have bothered some people.
I was nervous though. I could feel tightness in my stomach as Dr. Gahl opened my chart. He began to read through the results, starting with the easiest ones (the good news) first.
Then he worked his way to my pulmonary function tests and CT scans last. The results seemed to be a mixed message to me. Yes, there was inflammation in my lungs. I had “an asthma-like” problem that I was unaware of. My forced vital capacity score, and several others, were below normal, but not too bad. There were also a few small nodules on my lungs. Dr. Gahl explained most people have these small nodules because they can form after respiratory infections etc. Having no previous CT-scans with which to compare the results, he thought they were probably just old scars, but couldn’t give me a 100 percent guarantee.
“You do have HPS,” he said. I wasn’t shocked. I had expected it. But, being so intent on knowing everything, I pushed harder. He seemed reluctant to give me long-term specifics stressing that everyone is different, and that he didn’t know what other genes I might have that might offset some of the HPS symptoms. I was in reporter mode – and he was evading the question.
So, I was blunt. “Dr. Gahl, I know the genetics tests won’t be back for some time, but what type of HPS do you think I have?” I asked.
He turned it back on me. “What type do you think you have?” he asked.
“From what I’ve read, and what I know about where my family came from, I think I have HPS type I,” I answered.
“I think you’re right.” he said.
I knew that HPS type I was most common in northwestern Puerto Rico. My mother’s grandfather was from Camuy, a sort of HPS type I epicenter. I thought the odds were pretty good he was a carrier of the type I gene. HPS is autosomal recessive, and I’m unsure where it came from on my Dad’s side of the family, but since the gene types would have to match, it seemed like a pretty good educated guess. This was not good news though. HPS I is ultimately fatal.
I pushed harder, clearly making everyone uncomfortable.
“What do you think my life expectancy will be?” I asked him. “If you are the average for the patients I’ve seen,’ he began, “I think based on these results your life expectancy is probably five to seven years,” he answered. I was 29.
The answer sort of hung in the air. All eyes were on me waiting for a reaction.
I moved onto my next question on the list concerning the function of dense bodies. Dr. Gahl politely answered my question, drawing out platelets on my notepad to explain them to me.
I asked three or four more scientific-type questions. Dr. Gahl explained the answers politely and calmly as if he was teaching a class. All the while the words “five to seven years” seemed to soak into my skin. It started to dawn on me what he’d just said – caveats about “the average” and all included.
My mind started to race. I could feel the tears coming, but I didn’t want any of the doctors to see me cry. I was afraid that if I was emotional in front of them, they’d start to treat me with kid gloves and not answer all my questions as completely as I wanted.
I closed my notebook, never getting to the second page of questions.
I thanked everyone for all their time and work on my behalf that week and excused myself.
Back in my room I sat on my bed trying to find something to occupy my mind. The floor was busy, my roommate was busy prattering on with her chaplain, and it seemed as though there was no where to go to be alone. I should have gone outside – but I wasn’t thinking straight. I worked very hard at not crying, or else my roommate would likely ask me what was wrong, and I’d really had quite enough of her for the week.
I should have been praying, but even that seemed to tempt the tears – so I tried to watch the news.
My mind kept thinking of all the things that were five to seven years long. I was in college for five years, and it seemed to fly by – the idea that in that short amount of time I could be dead was more than I could wrap my mind around.
About two hours later a petite woman with dark curly hair and an Irish accent appeared by my bed. She was the genetics counselor, and although it was past time for her to go home, she wondered if we could talk. I followed her off the floor, through a maze of corridors, to her office. It was small, with lime green walls and what looked like army issue furniture.
Genetics counselors typically explain the genetics behind your disorder, and what impact it could have on your future children – who would be carriers, would they have the disorder etc.
But this woman was so kind, and Dr. Gahl seemed to have tipped her off about our earlier conversation. Before getting into genetics, she explained that Dr. Gahl was concerned that I might not have understood what we talked about earlier. I later learned he was worried that I wasn’t more upset.
That’s all the prodding I needed. The flood gates opened and I sobbed like a baby for almost an hour unable to even get an intelligible word out.
I was not only upset about that this news meant to me, but what it would mean for all the people I loved. I worried about my brother – how was I going to tell him he had HPS? What would happen to us? What if he had to watch me get sicker before he did? I cried for my mom – we’d already been through so much with my colitis. I cried for my boyfriend – what would he do? He’d just adopted two children who’d already been through the loss of one mother. How could I, in good conscience, allow our relationship to continue and put those children through the loss of a step mother as well? What about moving to Hong Kong? Would I be able to get the treatment I needed there? What about my dad?
It was not a good day.
While I’d prefer to not have HPS, I’ve learned much more since then that gives me reason for a guarded optimism these days that I didn’t have for the first year.
First, if you study the medical literature, you’ll notice they’ve been revising the average life expectancy up in the last three years, from the 30s to 40s, to the 40s to 50s. I don’t know why this is, but my theory is that there are a number of factors at work. First, the onset of the pulmonary fibrosis varies widely from the average. The more people we’ve studied, the more variety we’re finding. I know of one person in Puerto Rico who has HPS type 1 and is 71 years old with no fibrosis. Second, I think as more of us learn about HPS before we’re very sick, we’re better educated about preventative things we can do. While there isn’t a cure, I know that if I hang out with people that smoke, or don’t stay on top of colds etc, I could run the risk of accelerating the disease process. Third, I think more and more of us who find ourselves with this asthma-like early inflammation now have access to better drugs to try to manage the inflammation and perhaps slow down the scarring process.
Finally, I know that our Phase III clinical trial of Perfenidone is open, and I’m excited about the results we’ve seen so far. While it isn’t a cure, if it slows down the disease process we may find other helpful drugs in the meantime. Ultimately, many of our researchers believe the “cure” will be a kind of drug cocktail that hits the development of fibrosis on multiple levels.
Best of all, it has now been almost four years since that first NIH visit. There has been very little progression of any pulmonary fibrosis. Four years ago I expected to be on oxygen by my 33rd birthday – but today I’m not even close.
After a week’s stay the moment of truth arrived – the wrap up session. I was intent to make the most of this session. The way I saw it, I’d just donated a week of my time to the research, submitted to every test without complaint, and so I’d earned the right to spend some time with Dr. Gahl and pick his brain about everything I’d read over the summer. (Not he doesn’t gladly take the time to answer questions.) I’d written out three pages of questions. This was my big chance to talk to the world’s foremost expert – and I wasn’t going to blow it.
I remember the floor was quite full of patients that week, and so Dr. Gahl, his fellow, a small army of students and I walked up and down the hall trying to find an empty room to talk in private – or at least out of ear shot of my roommate. It seemed the only place available was what had clearly once been a conference room, but was now a depository for all the junk on the floor – unused IV poles, oxygen tanks, chairs, broken furniture, etc. We all sat at the conference table at the far end of the room. The florescent lights flickered – which really bothers my sensitive eyes. Because of all the junk, Dr. Gahl and the medical students all sat on one side of the table, and the fellow and I sat on the other side. It wasn’t by design, I know, but it was as if I was sitting before a committee – something that might have bothered some people.
I was nervous though. I could feel tightness in my stomach as Dr. Gahl opened my chart. He began to read through the results, starting with the easiest ones (the good news) first.
Then he worked his way to my pulmonary function tests and CT scans last. The results seemed to be a mixed message to me. Yes, there was inflammation in my lungs. I had “an asthma-like” problem that I was unaware of. My forced vital capacity score, and several others, were below normal, but not too bad. There were also a few small nodules on my lungs. Dr. Gahl explained most people have these small nodules because they can form after respiratory infections etc. Having no previous CT-scans with which to compare the results, he thought they were probably just old scars, but couldn’t give me a 100 percent guarantee.
“You do have HPS,” he said. I wasn’t shocked. I had expected it. But, being so intent on knowing everything, I pushed harder. He seemed reluctant to give me long-term specifics stressing that everyone is different, and that he didn’t know what other genes I might have that might offset some of the HPS symptoms. I was in reporter mode – and he was evading the question.
So, I was blunt. “Dr. Gahl, I know the genetics tests won’t be back for some time, but what type of HPS do you think I have?” I asked.
He turned it back on me. “What type do you think you have?” he asked.
“From what I’ve read, and what I know about where my family came from, I think I have HPS type I,” I answered.
“I think you’re right.” he said.
I knew that HPS type I was most common in northwestern Puerto Rico. My mother’s grandfather was from Camuy, a sort of HPS type I epicenter. I thought the odds were pretty good he was a carrier of the type I gene. HPS is autosomal recessive, and I’m unsure where it came from on my Dad’s side of the family, but since the gene types would have to match, it seemed like a pretty good educated guess. This was not good news though. HPS I is ultimately fatal.
I pushed harder, clearly making everyone uncomfortable.
“What do you think my life expectancy will be?” I asked him. “If you are the average for the patients I’ve seen,’ he began, “I think based on these results your life expectancy is probably five to seven years,” he answered. I was 29.
The answer sort of hung in the air. All eyes were on me waiting for a reaction.
I moved onto my next question on the list concerning the function of dense bodies. Dr. Gahl politely answered my question, drawing out platelets on my notepad to explain them to me.
I asked three or four more scientific-type questions. Dr. Gahl explained the answers politely and calmly as if he was teaching a class. All the while the words “five to seven years” seemed to soak into my skin. It started to dawn on me what he’d just said – caveats about “the average” and all included.
My mind started to race. I could feel the tears coming, but I didn’t want any of the doctors to see me cry. I was afraid that if I was emotional in front of them, they’d start to treat me with kid gloves and not answer all my questions as completely as I wanted.
I closed my notebook, never getting to the second page of questions.
I thanked everyone for all their time and work on my behalf that week and excused myself.
Back in my room I sat on my bed trying to find something to occupy my mind. The floor was busy, my roommate was busy prattering on with her chaplain, and it seemed as though there was no where to go to be alone. I should have gone outside – but I wasn’t thinking straight. I worked very hard at not crying, or else my roommate would likely ask me what was wrong, and I’d really had quite enough of her for the week.
I should have been praying, but even that seemed to tempt the tears – so I tried to watch the news.
My mind kept thinking of all the things that were five to seven years long. I was in college for five years, and it seemed to fly by – the idea that in that short amount of time I could be dead was more than I could wrap my mind around.
About two hours later a petite woman with dark curly hair and an Irish accent appeared by my bed. She was the genetics counselor, and although it was past time for her to go home, she wondered if we could talk. I followed her off the floor, through a maze of corridors, to her office. It was small, with lime green walls and what looked like army issue furniture.
Genetics counselors typically explain the genetics behind your disorder, and what impact it could have on your future children – who would be carriers, would they have the disorder etc.
But this woman was so kind, and Dr. Gahl seemed to have tipped her off about our earlier conversation. Before getting into genetics, she explained that Dr. Gahl was concerned that I might not have understood what we talked about earlier. I later learned he was worried that I wasn’t more upset.
That’s all the prodding I needed. The flood gates opened and I sobbed like a baby for almost an hour unable to even get an intelligible word out.
I was not only upset about that this news meant to me, but what it would mean for all the people I loved. I worried about my brother – how was I going to tell him he had HPS? What would happen to us? What if he had to watch me get sicker before he did? I cried for my mom – we’d already been through so much with my colitis. I cried for my boyfriend – what would he do? He’d just adopted two children who’d already been through the loss of one mother. How could I, in good conscience, allow our relationship to continue and put those children through the loss of a step mother as well? What about moving to Hong Kong? Would I be able to get the treatment I needed there? What about my dad?
It was not a good day.
While I’d prefer to not have HPS, I’ve learned much more since then that gives me reason for a guarded optimism these days that I didn’t have for the first year.
First, if you study the medical literature, you’ll notice they’ve been revising the average life expectancy up in the last three years, from the 30s to 40s, to the 40s to 50s. I don’t know why this is, but my theory is that there are a number of factors at work. First, the onset of the pulmonary fibrosis varies widely from the average. The more people we’ve studied, the more variety we’re finding. I know of one person in Puerto Rico who has HPS type 1 and is 71 years old with no fibrosis. Second, I think as more of us learn about HPS before we’re very sick, we’re better educated about preventative things we can do. While there isn’t a cure, I know that if I hang out with people that smoke, or don’t stay on top of colds etc, I could run the risk of accelerating the disease process. Third, I think more and more of us who find ourselves with this asthma-like early inflammation now have access to better drugs to try to manage the inflammation and perhaps slow down the scarring process.
Finally, I know that our Phase III clinical trial of Perfenidone is open, and I’m excited about the results we’ve seen so far. While it isn’t a cure, if it slows down the disease process we may find other helpful drugs in the meantime. Ultimately, many of our researchers believe the “cure” will be a kind of drug cocktail that hits the development of fibrosis on multiple levels.
Best of all, it has now been almost four years since that first NIH visit. There has been very little progression of any pulmonary fibrosis. Four years ago I expected to be on oxygen by my 33rd birthday – but today I’m not even close.
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