It’s been a few days since I’ve blogged, and I think I’m getting addicted to blogging. I feel like I go into a kind of withdraw if I don’t get my personal mind dump at the end of the day – grin!
I’ve been very tired the last few days, wrapping up the magazine at work (yeah, I know, it was supposed to be finished Wednesday) and taking care of a few HPS things when I can. My to-do list really does need some attention though.
But, in lieu of anything pithy to share tonight, I thought I’d update everyone on a few things I’ve mentioned here or on the HPS listservs.
As many of you know, I do relatively frequent searches for anything related to Hermansky-Pudlak Syndrome, pulmonary fibrosis or albinism.
A few weeks ago I was very delighted to stumble across the blog of a college student aspiring to go to medical school. I was thrilled to learn that as part of one of her classes she was studying tiny worms believed to have an HPS gene. She seemed thrilled to be doing actual research instead of rote learning – and I was thrilled to know that someone was studying HPS, even in an undergraduate biology class. In fact, I did a little happy dance!
I thought it would be neat to let her know how many of us would find the fact that she even knew what HPS was downright exciting, so I posted her blog url to the adult HPS list, and several of us e-mailed her. I had hoped one day she’d respond to one of us and maybe tell us more about her work. Several people have asked if I ever heard from her, but indeed, I have not.
I did, however, do some literature searches for studies of HPS worms to try to find out what, if anything, this research might tell us. I was surprised to find several papers and I’ve got them here to read when I finally get around to it. Grin!
Another little project I’ve had going on was our first baby steps to perhaps do a little HPS outreach in India. We now have several people of Indian heritage on the patient registry and I was anxious to know if perhaps the occurrence of HPS might be higher in this region, and had perhaps not been recognized before. So far, I have nothing to believe that it’s more common in India than anywhere else in the world. I mapped where all of our families from the region are from, and a few others I know about from the medical literature – and there’s no clumping to indicate the possibility of another genetic isolate. Now, that doesn’t mean that there is or isn’t one. My little, completely unscientific survey means nothing. India is a large country with a large population, so it stands to reason there are people with HPS there. Although the cases I know about are evenly spread out across the region, that doesn’t mean there aren’t others that we’re simply not aware of at this time.
In this search I’d found an article in an Indian newspaper giving a basic description of albinism and including information about HPS, although it was never called by name. I tracked down the doctor that wrote the article and e-mailed him to inquire about whether he was being thorough in his description, or whether he was including a description of HPS because he’d seen it in his work? It turns out he had seen one patient he believed probably had HPS, but that was all. He was very gracious, however, and did e-mail his ophthalmology colleagues in his area to see if anyone else had run across a patient with HPS. So far, it seems no one has responded.
I had to smile at his very nice e-mail though. He told me that he really didn’t have expertise in this area. Join the club! I can count the doctors that have some expertise in HPS on one hand, and because it’s so rare often even they don’t have the answers.
Because he was so kind and helpful and receptive to e-mail from a pushy patient half way around the world, I feel a little encouraged about reaching out to other albinism researchers in India. It isn’t that they’re studying HPS, but I’m hoping if, in their work, they stumble across an HPS patient that they might let us know about it so we can better track people affected.
And then there’s fundraising. I haven’t had a chance to paint much of anything this week. I am thrilled, however, that several HPS’ers are blogging about www.goodsearch.com! We’ve definitely seen an increase in the number of searches, and I’m hoping that only continues to grow.
I’ve been very tired the last few days, wrapping up the magazine at work (yeah, I know, it was supposed to be finished Wednesday) and taking care of a few HPS things when I can. My to-do list really does need some attention though.
But, in lieu of anything pithy to share tonight, I thought I’d update everyone on a few things I’ve mentioned here or on the HPS listservs.
As many of you know, I do relatively frequent searches for anything related to Hermansky-Pudlak Syndrome, pulmonary fibrosis or albinism.
A few weeks ago I was very delighted to stumble across the blog of a college student aspiring to go to medical school. I was thrilled to learn that as part of one of her classes she was studying tiny worms believed to have an HPS gene. She seemed thrilled to be doing actual research instead of rote learning – and I was thrilled to know that someone was studying HPS, even in an undergraduate biology class. In fact, I did a little happy dance!
I thought it would be neat to let her know how many of us would find the fact that she even knew what HPS was downright exciting, so I posted her blog url to the adult HPS list, and several of us e-mailed her. I had hoped one day she’d respond to one of us and maybe tell us more about her work. Several people have asked if I ever heard from her, but indeed, I have not.
I did, however, do some literature searches for studies of HPS worms to try to find out what, if anything, this research might tell us. I was surprised to find several papers and I’ve got them here to read when I finally get around to it. Grin!
Another little project I’ve had going on was our first baby steps to perhaps do a little HPS outreach in India. We now have several people of Indian heritage on the patient registry and I was anxious to know if perhaps the occurrence of HPS might be higher in this region, and had perhaps not been recognized before. So far, I have nothing to believe that it’s more common in India than anywhere else in the world. I mapped where all of our families from the region are from, and a few others I know about from the medical literature – and there’s no clumping to indicate the possibility of another genetic isolate. Now, that doesn’t mean that there is or isn’t one. My little, completely unscientific survey means nothing. India is a large country with a large population, so it stands to reason there are people with HPS there. Although the cases I know about are evenly spread out across the region, that doesn’t mean there aren’t others that we’re simply not aware of at this time.
In this search I’d found an article in an Indian newspaper giving a basic description of albinism and including information about HPS, although it was never called by name. I tracked down the doctor that wrote the article and e-mailed him to inquire about whether he was being thorough in his description, or whether he was including a description of HPS because he’d seen it in his work? It turns out he had seen one patient he believed probably had HPS, but that was all. He was very gracious, however, and did e-mail his ophthalmology colleagues in his area to see if anyone else had run across a patient with HPS. So far, it seems no one has responded.
I had to smile at his very nice e-mail though. He told me that he really didn’t have expertise in this area. Join the club! I can count the doctors that have some expertise in HPS on one hand, and because it’s so rare often even they don’t have the answers.
Because he was so kind and helpful and receptive to e-mail from a pushy patient half way around the world, I feel a little encouraged about reaching out to other albinism researchers in India. It isn’t that they’re studying HPS, but I’m hoping if, in their work, they stumble across an HPS patient that they might let us know about it so we can better track people affected.
And then there’s fundraising. I haven’t had a chance to paint much of anything this week. I am thrilled, however, that several HPS’ers are blogging about www.goodsearch.com! We’ve definitely seen an increase in the number of searches, and I’m hoping that only continues to grow.
Comments