Two items stopped me in my tracks this week. Sharing them here on my outboard memory so I don’t forget (and hopefully they will inspire you, too).
Rare Disease
Every-day magic
I’ve been following Bertrand Might’s story for a few years through his parents’ blog about his “movement disorder” (which turns out to be related to his incredibly rare condition, NGLY1 deficiency). Last week, Matthew Might co-authored a commentary with Matt Wilsey in the journal of the American College of Medical Genetics and Genomics: “The shifting model […]
“Pursue hope like it’s an outlaw.”
– Afternoon Napper during Rare Disease week in Washington, DC I love that line and that spirit — and this image captured by John Schinker because it looks like these zebras have formed a posse and are heading out on the trail together. When you hear hoofbeats, think “horses” but don’t rule out zebras.* And if you’re […]
Extremely rare, incredibly typical
After nearly 15 years tracking the cultural shifts happening at the intersection of health and the internet, I know a few things. #1 – don’t get between a parent and a piece of information he or she needs to make a decision about the health of a child. #2 – from 28.8 modems to the latest smartphones, […]
A field guide to The Diagnosis Difference
The Pew Research Center released a report today on people living with chronic conditions: The Diagnosis Difference. Policy makers, patient advocates, entrepreneurs, investors, clinicians — all health care stakeholders — can use the data to map the current landscape. There are still barren patches, where people remain offline and cut off from the resources and […]
“Every Mom and Dad of a child with a rare disease has earned an honorary PhD”
That’s a line from an essay entitled “cri de cure” by Ethan Perlstein. I tweeted it and got some great replies: Hahaha. I’m often asked by medical teams if I am a MD or nurse. I tell them ‘no,but I have a PhD when it comes to my daughter’ – @SolidFooting Yes! I know more […]
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