Categories
advocacy genetics health

10,000 hours: why patients + their families are your most helpful resource

If you’ve read Outliers, you likely already know what I’m alluding to with the title of this post. Malcom Gladwell, the journalist and best-selling author, refers to what he calls the “10,000 hour rule.” Simply, if you practice something for about 10,000 hours, you’re likely going to be a much greater success at it than the average person — masterful even. In my life, I’ve found this to be quite true with music, design, school, language and well, perhaps most importantly, dealing with illness.

Now I’m not complaining, but having any kind of chronic illness is a day in, day out affair — and I’ve had Crohn’s disease since 2001, so I’ve racked up nearly 96,000 hours of practice there. I’ve had my fun with vasculitis (Wegener’s) since 2008 — that’s approximately 43,000 hours. Needless to say, I am an expert in my own personal course with these diseases because I’ve been there for every hour of practice. I’m extremely lucky to have a medical team that fully respects not only the above, but the importance of my role in the care that I receive (thank you UCSF, you guys are amazing). There are so many patients and families who aren’t so lucky though.

Meet Christy. Her daughter Signe was born with M-CM — an extremely rare condition that Christy recognized and correctly diagnosed (following a misdiagnosis) because as Signe’s mom, she is an expert on her daughter. Check out Christy’s piece in honor of Open Access Week around inserting herself — and the brilliant families in the network that’s been created around M-CM — into the science of the disease and the importance of open research online. Talk about human-centered design… the world needs more Christy’s as far as I’m concerned.

Categories
DNA genetics wegener's granulomatosis

A funny thing happened on the way to the DNA lab…

IÂ’ve been a total slacker with my personal to-do list as of late, so I made it a point this weekend to finally send in my saliva/DNA sample to 23andMe. Yep, this is the kit I bought in April. Shameful, I know.

I already knew from doing a Wegener’s DNA study that you shouldn’t eat or drink for at least 30-minutes prior to spitting into the kit — please see “how it works” if you have no idea what I’m talking about. So more than 3 hours after my treat of all-natural yogurt with “organic” chocolate cookies (hippy Oreos) and a tall glass of water to wash it down, I broke open the kit and starting spitting.
To my horror I noticed small black bits of cookie in the sample, immediately freaked out, and subsequently emailed 23andMeÂ’s customer service help-line. I explained my concern (and embarrassment) over the cookie incident and optimistically yet cautiously sealed up my sample and posted it.
I got an answer shortly after. After confirming that mine was not the strangest email they’d received (I asked) the super friendly customer liaison let me know that all was not lost and the test would not be affected by the remnants of my afternoon snack. They even assured me that my DNA results “would not come back as part female/part Oreo.”
I laughed out loud at my desk. I just fell in love with 23andMe a little bit more.
Photo by Mihoda
Categories
crohn's disease genetics ulcerative colitis

Sometimes it’s not good to share.

A new study finds common and shared genes between Crohn’s disease and ulcerative colitis—very short but informative: washingtonpost.com (Not very uplifting, sorry).