Niemann-Pick type C is an inherited neurodegenerative disorder of intracellular cholesterol and glycolipid trafficking defects. There are two genes that have been linked to the disease, NPC1 and NPC2.
The article is about a family who has twins with the disease. It explains how the twin girls became sick and had enlarged spleens which was diagnosed as mononucleosis at first. When the mono was gone and their spleens were still abnormal, doctors suspected a lysosomal storage disease marked by a failure of the cells to process and recycle waste. This disease gradually inhibits mobility, speech, and the ability to swallow. The rest of the article talks about the family and their journey in working with scientists to find a cure. There is a robot in one of the doctors labs that works around the clock to test new drugs on various diseases. It is really interesting!
Here is a link to the article online: http://projects.wsj.com/trials/#chapter=1
Marcus, Amy D. "Trials: Saving Kids, Changing Science." Wall Street Journal 15 Nov. 2013: A1+. Print.
This was a really cool article!!! I loved how interactive it felt!! Also I thought the robots testing drugs was just really cool, because it just further emphasizes there is SO much we can do with science, and so many areas we can explore. However one quote that I really enjoyed from the article in regards to the robot was:
ReplyDelete“ ‘I love your technology,’ ’’ Dr. Austin recalled the woman saying. “ ‘I love your robots. I love this fancy stuff. But for my child and this disease, 10 years, 15 years, isn’t going to work. Isn’t there something else we can do?’ ’’
And I liked this quote because I felt like it kept the familiar tone that many parents unfortunately may deal with when they're family members/children/spouses etc. have rare and potentially fatal diseases.
I wonder if a way to treat/cure this disease is to somehow down-regulate the NPC1 and NPC2 gene synthesis in the twins. Or maybe if it is too late since they're already born, if there would be a way to test for this in the uterus and start the down-regulation from there. I have never heard about this disease before! Wall Street went up a point in my book for posting something medically related.
ReplyDeleteI like your thinking. I wonder if they would test for this disease because it is such a rare disease. It really caught my eye because it was right on the front page of the news paper and titled "A WSJ Special Project".
DeleteShawna, this is a fantastic read! I also agree with Nafisah- this was an extremely interactive article. I'm sure the print version was great, but the authors incorporated so much online supplemental tid-bits so cleverly.
ReplyDeleteIt definitely says something about Chris and Hugh Hempel that they are not willing to just accept the rarity of the disease as an excuse to not work hard toward a cure. Sure, some diseases present a mere ant hill to climb in finding a cure... Other diseases, such as Niemann-Pick Type C, present 30 Great Walls of China stacked on top of each other. The best thing that can be done is to keep on chuggin' along and build on any positive results seen. That is what has been made possible now with robots working around the clock in Dr. Austin's lab.
The last statement in the article definitely harnesses the entire purpose of the WSJ access to the Hempel family: "I think you should name the robot hope." Clearly, humans control very little on this planet... The best thing we can do when we're fighting these extremely rare diseases with the best science possible is to hope. I look forward to hearing updates about the Hempel family and will definitely keep my hope for relief to their awesome girls.
When I was reading the article, the statement, "There are about 7,000 known diseases; about 500 have a treatment" stood out for me. Even if the robot is working around the clock, I would agree that the robot should be named Hope because it provides comfort to know that there is a machine that is not sleeping or eating and is working 24/7 to find a cure. This was a great and upbeat article and I am glad that you were fortunate enough to come across it.
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