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 in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.”
An excerpt:
Until very recently, the fragmented distribution of patients across institutions hindered the discovery of new rare diseases. Clinicians working with a single, isolated patient could steadily eliminate known disorders but do little more. Families would seek clinicians with the longest history and largest clinic volume to increase their chances of finding a second case, but what does a physician do when N = 1 or if the phenotype is inconsistent across patients?
Answer: They search online. They find a blog post. They find each other.
People who were isolated, who probably would never have found the answers to their questions, are able to connect thanks to the confluence of new genetic testing, easy access to publishing platforms, and ever-improving search algorithms. It seems like magic, especially if you’re new to peer-to-peer health care.
It is cases like this one which inspired me, in 2011, to write, “The internet gives patients and caregivers access not only to information, but also to each other.” It is also why I tell people, “the most exciting innovation of the connected health era is people talking with each other.”
And this is why people were so disgusted by Bill and Emma Keller writing about patient blogs as an example of our over-sharing culture. There is no such thing as over-sharing when you are pursuing hope “like it’s an outlaw.” To say otherwise is to deny people the chance to change the way we practice medicine, for the better.
I look forward to the day when people connecting online doesn’t look like witchcraft to outsiders. Until then, let’s all keep practicing our every-day magic.
Catherine Rose says
Another keeper! Matthew Might actually connected me with Duke to do exome and genome testing on Alexis. Every-day magic will help move families forward, even if they look like ‘baby’ steps to science.
I’m actually at the ACMG meeting as a Consumer Leader – embracing a new role to help reflect my experiences on having a child who continues to be genetically undiagnosed. Isolation is no fun, connecting with peers who are struggling in the same way is tremendous!
Thanks Susannah for your beautiful post highlighting must read article by Matthew and Matt.
Susannah Fox says
Thanks, Catherine! Congratulations on the new role as a consumer leader (well, the new title — that’s been your role for a long time).
It’s amazing what can happen when people connect with each other — and also connect with clinicians who see patients & families as partners. Today I’m watching, for example, this video sent to me by Justin Vandergrift, a dad who started Empoweredbykids.org:
http://youtu.be/1nVabFuOWho
Remission rates, made visible. Just beautiful.
e-Patient Dave says
Oh poo, that video now says “This video is no longer available due to a copyright claim by Kirbyko Music LLC.” Know of any other version, perhaps without music??
Susannah Fox says
No, but Justin’s site is a great one to explore for other sources of inspiration!
Christina says
These sorts of stories are indeed examples of the magic of connection across the internet. I wonder, though, if there is an assessment you are aware of of how the internet has perpetuated medical inaccuracies to the detriment of patients and larger society. I am thinking, to be concise, of the mass of poorly sourced material available online about vaccines and autism. I think the internet is where this misconception burns the brightest, and its damage has been widespread. Do you know if this angle has been studied, or what the newest thinking is about it?
Susannah Fox says
Great question.
Here’s something I wrote on that topic, keying off of Seth Mnookin’s book, The Panic Virus, which points out that the false link between vaccines and autism started with the publication of a now-disgraced “scientist’s” “study” in The Lancet. The flames were fanned by established media outlets and now they burn online, as you say.
Information spreads like wildfire, right or wrong
Be sure to read the comments, too.
Another case I’ve been following is the Canadian reaction to an experimental treatment for MS. Again it started with the publication of a study in a medical journal, but leaped over into social media. Check out:
Media, politics and science policy: MS and evidence from the CCSVI Trenches
But I don’t think there has yet been a comprehensive review done to weigh out the good and the bad. I don’t know if it’s possible to do so. I’d love to hear what other people think about this.
Colleen Young says
There has been one study that examined an online breast cancer community:
Esquivel A, Meric-Bernstam F, Bernstam EV. Accuracy and self correction of information received from an internet breast cancer list: content analysis. BMJ 2006 Apr 22;332(7547):939-942
http://www.bmj.com/content/332/7547/939?view=long&pmid=16513686
They found that active communities are self-correcting. I would welcome an updated study on this subject.
I maintain that effective community management can mitigate the feared negatives of online health communities. I outline many of the tactics in this paper, including examples of how community managers handled a transgression.
Community Management That Works: How to Build and Sustain a Thriving Online Health Community http://www.jmir.org/2013/6/e119/
Short excerpt here: http://cyhealthcommunications.wordpress.com/2013/09/20/how-do-you-manage-misbehavior-in-online-health-communities/
Susannah Fox says
I’ve been thinking about this question.
There is, as you put it, “a mass of poorly sourced material available online about vaccines and autism.” Thinking out loud, what if…
…a study was conducted to see what search terms people use when they are looking online for vaccine information (and I don’t mean a survey, I mean gathering actual search terms from major health sites and search engines).
…algorithms were adjusted to return results to those search terms that are based on science and fact.
…all pediatricians, midwives, nurses, ob/gyns, epidemiologists (etc) committed to writing an article, listicle, personal essay (poem even!) about what they have learned about vaccines and why they believe in the science behind them. To flood the market of information, essentially.
…ob/gyns, midwives, and anyone else working with pregnant women committed to starting the vaccine conversation early, to give families a chance to think about it before a needle comes near their new baby (that’s Seth Mnookin’s idea, btw).
The above stems from what I’ve seen practiced by clinicians like Wendy Sue Swanson, MD, aka @seattlemamadoc, and a new initiative called Flip the Clinic which argues that we as a society should take advantage of all the time people spend OUTSIDE the clinic. The burden of vaccine education should not fall solely on pediatricians and it should not begin after a baby is born.
Check out, for example:
http://www.seattlechildrens.org/search-results.aspx?term=vaccines&clear=1
What if, when people searched, they found those posts first?
Catherine says
How can anyone not absolutely fall in love with Bertrand and his family? They are beautiful inside and out (and wicked smart).
MeredithGould (@MeredithGould) says
Yes, there’s no such thing as “over-sharing” in this wild new world of access to information and experience, but other issues emerge as a result. I’m fascinated by how digital has changed what constitutes privacy and, in turn, that changes anyone’s “right” to complain about…anything.
Casey Quinlan (@MightyCasey) says
The only thing that WILL drive change is peer-to-peer. We have to lead medicine out of the Slough of Despond (a/k/a the slow train to adoption of scientific discovery) by using our flashlights. The batteries in theirs are dead …
Colleen Young says
Susannah,
Parents are leaders in peer-to-peer health and it appears that many of the professionals in their circle of care are willing enablers. I contend that without e-providers, e-patients are handicapped.
I’d like to introduce you to a few people who represent an incredible success model at a pediatric practice in a small city in Southern Ontario. Dr. Paul Dempsey @drpauldempsey is a pediatrician and the Medical Director of @quintepediatric. Witnessing the creation of community amongst parents, especially of special needs children, in his waiting room, he set out to enable online peer-to-peer health for his patient families. He hired an online communication director, @SaraHamil and since then they’ve been listening, learning and leading online.
Also meet Jenn Sprung @mindthecompany, a patient mom of Quinte Pediatrics. When she first met Dr. Dempsey he called her an e-patient. She looked at him with her special quizzicle look and said, “I’m an e-what?!” And since then she has been unstoppable, not only helping her son, but so many other parents with special needs children.
I’ll invite Paul, Sara and Jenn to join this conversation.
Susannah Fox says
Wonderful! I’m already a Jenn Sprung groupie (see: Who are you addicted to on Twitter? Parents edition) and I’d love to hear from this pioneering group about how they build community online and offline.
Carla Berg says
Colleen said >> I contend that without e-providers, e-patients are handicapped <<
I so agree with you, Colleen and thank you much for pointing it out. The success of p2p in healthcare depends on engagement with the whole circle of care, physicians especially. Our movement had to go through a patient-centric phase to reacj this next step, but this next step, I would contend is very much upon us now and reaching out beyond the patient tribes is essential if we are going to shift more than patient behavior.
Sharing great examples of physicians and practices that have already "flipped" their focus is a wonderful way to help kindle this next wave of change.
Jenn Sprung says
Over-sharing? Perhaps.
More importantly-
It’s about finding hope in your darkest hours, and faith when you need it most. Because the most difficult thing for a parent to hear is that there is something wrong. And it is terrifying to not understand why.
It’s about connecting with the hearts and minds of others that may not be found within your own community. It is about building your own community when you feel as though you don’t have one.
It’s about being fully engaged in life, whether you are a patient or a caregiver. Even if it means we use new and emerging technologies to achieve it.
It’s about being open and honest, while still setting limits on what you may share. Because you know in your heart that while there is no one exactly the same as you, there are many people that will share similar paths with you.
It’s about inspiring others, and being inspired by others. Because it is way too easy to give up when the task at hand seems so overwhelming.
It’s about feeling an incredible responsibility to the next person facing the journey, and a belief that they deserve a better experience than what you had. And working toward making this happen.
It’s about finding, refining and strengthening your voice, and lending it to those that haven’t one. It’s also about helping them find their own.
It’s about knowledge sharing and translation. Straight talk when you need it. Continuing education for those of us that don’t have a lot. It is our classroom, our home, our work and our play.
It’s about love and compassion. Awareness. Joy. Passion. Vulnerability. Strength. Beauty. Introspection. Seeing pieces of yourself in the stories told by others, and knowing that someone will see themselves in yours.
It’s about life.
It’s about being human.
MeredithGould (@MeredithGould) says
Having read your comment, I am now among your groupies. Gorgeous observations exquisitely articulated. Thank you.