A powerful e-patient story - parents search for what ails their son

From SPM member Gangadhar Sulkunte:

This article is very powerful. How the parents had to go through genomic hell to track down which genetic ailment was killing their son. Lots of useful information on genetic disorders, gene mutations here:

http://matt.might.net/articles/my-sons-killer/

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e-Patient Dave

"e-Patient Dave" deBronkart is a co-founder of our Society and past board chair. He survived a near-fatal kidney cancer by being an e-patient long before he'd heard the word. Today he evangelizes participatory medicine, patient empowerment, and patient data access as a keynote speaker and at epatientdave.com.

2 Comments

Susannah Fox on June 1, 2012 at 12:57 pm

Yes! The Might family’s story is amazing. I’ve been following Bertrand (really, his parents) on Twitter since I began fieldwork among people living with rare disease:

https://twitter.com/#!/bertrandmight

Here’s the report which resulted from that fieldwork:

Peer-to-Peer Healthcare
http://www.pewinternet.org/Reports/2011/P2PHealthcare.aspx

I don’t see the comments attached to the post that are mentioned in their tweets, tho. Maybe they deleted them, since some were vicious:

“.@mattmight wrote about B’s medical journey. Commenters suggested euthanasia for B & accused us of “pure egocentrism” for having V. #ImUpset”

V refers to their second child, a daughter, who is genetically typical but had a 1 in 4 chance of inheriting the same challenges that Bertrand faces.

This backlash or blame is something that comes up pretty often when I talk with people about the research we’ve done looking at people living with rare disease. To them I say, “You should meet Laurie & Catherine & Nell…” (and I could go on…) People living with rare disease (and the people who love them) have so much to teach us. We just need to listen and be ready to hear it.

Examples:

Mama Birds
http://pmedicine.org/epatients/archives/2012/03/mama-birds-catherine-fairchild-calhoun-and-laurie-strongin.html

The impact of the internet on one man’s life
http://pmedicine.org/epatients/archives/2012/03/the-impact-of-the-internet-on-one-mans-life.html

Uncommon Challenges, Shared Journeys
http://press.sireninteractive.com/

The Spirit Catches You and You Fall Down
http://us.macmillan.com/thespiritcatchesyouandyoufalldown/AnneFadiman