I need to figure out how to become famous, or at least well connected. As most of you know, Hermansky-Pudlak Syndrome, and finding the cure, is a bit of an obsession. Days like today when I’m working on some of my more “administrative” (fundraising) tasks, I can’t help but feel an overwhelming sense of frustration.
What a difference just the right connection would make!
What would be chump change to other medical conditions and their groups could radically accelerate, and change the very future of those with Hermansky-Pudlak Syndrome. It just takes money. We don’t have it.
If you could go to a workshop and create a group of people from scratch with the intention of making fundraising as difficult as possible, you’d come up with the HPS Network. Yes, I’m sure lots and lots of other non-profits and disease groups feel the same way.
For starters, although our numbers increase, on average, by a person a week (and have done so steadily since 1992) – we are still ultra rare. We’re a blip in the medical world.
Spending money studying HPS is a good investment. We’re a single gene disorder that causes this huge cascade of symptoms, from albinism to bleeding issues, from Crohn’s-like digestive problems to pulmonary fibrosis. This happens because in certain cells, this one gene (or one of nine genes identified so far) impacts how little compartments are made within certain cells. Why is that? We don’t know. What protein products are involved and why and how do they work? We’re not sure.
So I can understand, I over simplify the workings of the human body, and thus the problems that can result, like making designs with a set of dominos.
Remember when you were a kid and you’d line up dominos to make different designs? Then you tip the first domino over, and it falls on the next one, and the next one and so on? If you had a complex design, and you turned one domino slightly to the left instead of slightly to the right, you could alter the pattern. It would either create a new pattern, or perhaps leave a whole section of the existing pattern untouched (or not working). In my very non-scientific way of thinking, functions of the human body, like making pigment cells work, or eye development, or making working platelets is sort of like setting up a domino design. Change one domino, or gene, and you can radically impact how platelets or pigment, or anything else works.
With many more common disorders, like Crohn’s or pulmonary fibrosis, scientists don’t actually know for sure what the entire domino design looks like. They’re not sure which dominos are most important, or even which way the falling dominoes should go. Studying a single gene disorder like HPS could give them clues about those pathways, if only they’d know about us – and not dismiss us because we’re rare an unfamiliar and not what they’re used to studying.
This is a hard argument for funders too. Funders, really big funders, often want to feel like they’re making a huge bang with their bucks. While researching HPS could yield helpful clues towards cures, it’s likely only one piece of the puzzle. The world will hardly stop and even take notice, even if we do find the cure.
Many disease groups, as we do, raise money from our members and their friends and families. The trouble is not only is HPS rare, but it’s most common in Puerto Rico, a part of the United States with great socio-economic challenges and no vote in Congress. Our members are almost all legally blind. Blindness, legal or total, has nothing to do with success. Our members, our kids with HPS, can do anything they set their minds to doing. Yet, the reality is many face additional socio economic challenges to achieving their goals, and some are better equipped to overcome those obstacles than others. Finally, many adults with HPS, like me, cope with chronic health problems that severely impact our earning power. We’re hardly able to donate thousands of dollars when we’re struggling to pay for our own medical care.
Whine, whine, whine.
So, we keep trying. We keep using our best assets – our charming and talented members – to strive for the cure and do the best we can. We compete with more than 6,000 other rare disorders, some with similar obstacles.
As I work on this problem day to day, I can’t help but think that we’re one connection away from turning the tide. One celebrity, like a Jennifer Lopez, could completely turn our worlds around with a very modest investment. One family foundation, touched by just the right story, could move our research forward by years.
And if we could find a way to create our own fame, or our own fortune, we could turn the tide. It’s possible. But some days, trying to figure out how to be famous, or well connected, is overwhelmingly exhausting.
What a difference just the right connection would make!
What would be chump change to other medical conditions and their groups could radically accelerate, and change the very future of those with Hermansky-Pudlak Syndrome. It just takes money. We don’t have it.
If you could go to a workshop and create a group of people from scratch with the intention of making fundraising as difficult as possible, you’d come up with the HPS Network. Yes, I’m sure lots and lots of other non-profits and disease groups feel the same way.
For starters, although our numbers increase, on average, by a person a week (and have done so steadily since 1992) – we are still ultra rare. We’re a blip in the medical world.
Spending money studying HPS is a good investment. We’re a single gene disorder that causes this huge cascade of symptoms, from albinism to bleeding issues, from Crohn’s-like digestive problems to pulmonary fibrosis. This happens because in certain cells, this one gene (or one of nine genes identified so far) impacts how little compartments are made within certain cells. Why is that? We don’t know. What protein products are involved and why and how do they work? We’re not sure.
So I can understand, I over simplify the workings of the human body, and thus the problems that can result, like making designs with a set of dominos.
Remember when you were a kid and you’d line up dominos to make different designs? Then you tip the first domino over, and it falls on the next one, and the next one and so on? If you had a complex design, and you turned one domino slightly to the left instead of slightly to the right, you could alter the pattern. It would either create a new pattern, or perhaps leave a whole section of the existing pattern untouched (or not working). In my very non-scientific way of thinking, functions of the human body, like making pigment cells work, or eye development, or making working platelets is sort of like setting up a domino design. Change one domino, or gene, and you can radically impact how platelets or pigment, or anything else works.
With many more common disorders, like Crohn’s or pulmonary fibrosis, scientists don’t actually know for sure what the entire domino design looks like. They’re not sure which dominos are most important, or even which way the falling dominoes should go. Studying a single gene disorder like HPS could give them clues about those pathways, if only they’d know about us – and not dismiss us because we’re rare an unfamiliar and not what they’re used to studying.
This is a hard argument for funders too. Funders, really big funders, often want to feel like they’re making a huge bang with their bucks. While researching HPS could yield helpful clues towards cures, it’s likely only one piece of the puzzle. The world will hardly stop and even take notice, even if we do find the cure.
Many disease groups, as we do, raise money from our members and their friends and families. The trouble is not only is HPS rare, but it’s most common in Puerto Rico, a part of the United States with great socio-economic challenges and no vote in Congress. Our members are almost all legally blind. Blindness, legal or total, has nothing to do with success. Our members, our kids with HPS, can do anything they set their minds to doing. Yet, the reality is many face additional socio economic challenges to achieving their goals, and some are better equipped to overcome those obstacles than others. Finally, many adults with HPS, like me, cope with chronic health problems that severely impact our earning power. We’re hardly able to donate thousands of dollars when we’re struggling to pay for our own medical care.
Whine, whine, whine.
So, we keep trying. We keep using our best assets – our charming and talented members – to strive for the cure and do the best we can. We compete with more than 6,000 other rare disorders, some with similar obstacles.
As I work on this problem day to day, I can’t help but think that we’re one connection away from turning the tide. One celebrity, like a Jennifer Lopez, could completely turn our worlds around with a very modest investment. One family foundation, touched by just the right story, could move our research forward by years.
And if we could find a way to create our own fame, or our own fortune, we could turn the tide. It’s possible. But some days, trying to figure out how to be famous, or well connected, is overwhelmingly exhausting.
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