This evening I went out to eat with some great friends: Tina J, Tina B., Echo and Karen. We went to the California Pizza Company, which if you’ve never been, is GREAT! For all I know they’ve been open on the Plaza for a while, but I haven’t been to the Plaza in a while. It’s the same chain where we celebrated my being accepted into the drug trial back in August. (A shout out to the Washington HPS crew and Donna Rose!)
The menu has a little bit of everything from Southwestern to Asian influenced cuisine. It was also really nice to get out of the house. Last night I tried to go to Homers and escape for a bit – but when I got there the band was really rocking! Perhaps a little too rocking….am I getting old or something? I still need my eardrums, thank you very much. So, I got my weekly treat – a chai latte, and came home.
This weekend has been HPS weekend. I’ve already been working on the next newsletter, a few special requests from HPS’ers and I was doing some of my journal reviewing. Housework, what housework?
I’ve been so worried about Katy that I decided to take another pass at the journal searching. This time instead of searching for HPS I did searches about albinism.
We now have several families with adopted children from India that have tested positive for HPS – and I was really getting curious about another genetic founders effect. So, I got out a map and plotted where all the HPS’ers of Indian background came from. I didn’t find a connection. They were spread out all over India – and given that India is such a large and populous country, it stands to reason they’d have a number of HPS cases.
Then I had a brilliant idea (which should have occurred to me before today.) English is widely spoken in India and it may be likely Indian medical journals would be published in English. So, I went to Google Scholar Search (An excellent tool for doing medical journal searches by the way) and put in my request. Sure enough there are a number of researchers studying albinism in India. It turns out albinism is one of the leading causes of low vision in India, although I didn’t find any estimates of its frequency.
There was one paper that found a variant of OCA1 was quite common among the Tili ethnic group (hope I spelled that right.) I did find a few docs I will probably e-mail during the next few weeks just to find out if these gene hunters have even looked for Hermansky-Pudlak Syndrome in the populations they are studying. But, I didn’t find anything that might shed any light on Katy’s situation.
I did find one doc in Hyderbad that e-mailed me back within minutes of sending something off to him. He’s an ophthalmologist, but he says he had one patient he suspected might have HPS when he was a medical student. He wanted to discuss the issue further, but was not in his office – so we’re supposed to exchange more e-mails later this week.
Today I spent working on things for work. We’re starting to get near our deadline and I’m getting anxious about finishing everything – so I decided I’d sleep better this week and be less stressed if I got some headway made on my various projects. Yes, I think I could finish them within the week without working on Sunday – but I’d rather be ahead and have some flexibility to my schedule than be in a panic at the end of the week.
The really frustrating thing is that I didn’t make any headway on my personal stuff – like housework – and I’ve still got a pile of HPS things to do.
The menu has a little bit of everything from Southwestern to Asian influenced cuisine. It was also really nice to get out of the house. Last night I tried to go to Homers and escape for a bit – but when I got there the band was really rocking! Perhaps a little too rocking….am I getting old or something? I still need my eardrums, thank you very much. So, I got my weekly treat – a chai latte, and came home.
This weekend has been HPS weekend. I’ve already been working on the next newsletter, a few special requests from HPS’ers and I was doing some of my journal reviewing. Housework, what housework?
I’ve been so worried about Katy that I decided to take another pass at the journal searching. This time instead of searching for HPS I did searches about albinism.
We now have several families with adopted children from India that have tested positive for HPS – and I was really getting curious about another genetic founders effect. So, I got out a map and plotted where all the HPS’ers of Indian background came from. I didn’t find a connection. They were spread out all over India – and given that India is such a large and populous country, it stands to reason they’d have a number of HPS cases.
Then I had a brilliant idea (which should have occurred to me before today.) English is widely spoken in India and it may be likely Indian medical journals would be published in English. So, I went to Google Scholar Search (An excellent tool for doing medical journal searches by the way) and put in my request. Sure enough there are a number of researchers studying albinism in India. It turns out albinism is one of the leading causes of low vision in India, although I didn’t find any estimates of its frequency.
There was one paper that found a variant of OCA1 was quite common among the Tili ethnic group (hope I spelled that right.) I did find a few docs I will probably e-mail during the next few weeks just to find out if these gene hunters have even looked for Hermansky-Pudlak Syndrome in the populations they are studying. But, I didn’t find anything that might shed any light on Katy’s situation.
I did find one doc in Hyderbad that e-mailed me back within minutes of sending something off to him. He’s an ophthalmologist, but he says he had one patient he suspected might have HPS when he was a medical student. He wanted to discuss the issue further, but was not in his office – so we’re supposed to exchange more e-mails later this week.
Today I spent working on things for work. We’re starting to get near our deadline and I’m getting anxious about finishing everything – so I decided I’d sleep better this week and be less stressed if I got some headway made on my various projects. Yes, I think I could finish them within the week without working on Sunday – but I’d rather be ahead and have some flexibility to my schedule than be in a panic at the end of the week.
The really frustrating thing is that I didn’t make any headway on my personal stuff – like housework – and I’ve still got a pile of HPS things to do.
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