A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Sunday, November 17, 2013

An incredible look at NPC research

On November 14, the Wall Street Journal published online a special report TRIALS: A Desperate Fight to Save Kids & Change Science about the long and winding journey of research into Niemann Pick Type C and the use of cyclodextrin as a possible treatment.  The November 15th paper had a shortened version of this special report.

Here is the "teaser" video:
A group of parents and scientists is seeking a treatment for a fatal genetic disease that strikes children. Their collaboration is pushing the boundaries of medical research. A preview of a WSJ Special Project. Music by Dexter Britain http://on.wsj.com/19nKvDc

The author, Amy, spent 6 years following several families and capturing the highs and lows of living with and treating NPC.  Amy was at the NNPDF conference in Baltimore in August and was able to speak to many families first hand.

Yes, the book is long (10 chapters) and it is quite interactive with videos and comment areas.  But it is so worth the read to understand NPC and how research in general takes its twists and turns in developing a drug to treat a rare disease (any rare disease).

Please take the time to read the story or watch the videos.  Please share them with others.  There may be one researcher, somewhere, who has a missing link to help all these families have better tomorrows.  By sharing, you also spread awareness of this rare disease and more people (doctors included) become familiar with it and can more quickly diagnose it when they see it.

Wall Street Journal Article: http://projects.wsj.com/trials/?mod=e2fb
PDF E-book: http://projects.wsj.com/trials_ebooks/TRIALS.pdf
EPub E-book (Apple iReader and other readers): http://projects.wsj.com/trials_ebooks/TrialsBook.epub
Kindle (text only): http://projects.wsj.com/trials_ebooks/TrialsBook.mobi

Dillon Papier's story: http://youtu.be/BkWvTLhh0_0

The Marella Family's story: http://youtu.be/ra-nZKmENmQ

The Hempel Family: http://youtu.be/MgMVwSDq4QQ

The use of the robot in research: http://youtu.be/ra0e97Wiqds


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