A look at how social media helps connect patients with rare diseases

Photo by Jason Howie
Photo by Jason Howie

If you suffer from a very rare disease, getting the proper diagnosis can be an arduous journey. But a bigger challenge may be the feeling of isolation, since there may not be any support groups where you can connect to someone who is going through the same thing.

That was the situation the Bigelow family found themselves, and they turned to social media for the solution.

Bo Bigelow knew that his six-year-old daughter Tess had a genetic mutation called USP7. She also had global developmental delays in basic functions such as walking and talking, causing her to function at the level of an 18-month year old. Was USP7 the cause of her developmental delays?

Bigelow spread the word about his daughter’s genetic condition to find out, posting on Facebook, Twitter and a personal website with the plea to “help us find others like Tess.” A friend of the family also posted on Reddit, where it was read within 24 hours by a researcher at Baylor College of Medicine who was studying USP7. His research group had already identified seven children similarly affected by the same genetic mutation, and they were about to publish an article about it in Molecular Cell.

Tess may become part of future clinical trials at Baylor, but the researchers also connected the Bigelows to the other seven families. “These days there are ribbons and awareness-weeks for so many diseases,” Bigelow said in a recent KQED Science story, “but when yours is ultra-rare, you feel completed isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.”

The KQED piece goes on to explain:

“Patients or parents like Tess’ who are seeking answers to seemingly unsolvable medical mysteries have new tools to reach out, not only on social media, but in crowdsourcing websites like CrowdMed, a subscription service for people seeking answers to medical conundrums. At CrowdMed, people who have symptoms but have yet to find a diagnosis seek opinions from the site’s “medical detectives,” only some of whom are medical professionals.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

Stanford medical student co-authors guidebook for aspiring science students

Photograph courtesy of James Pan
Photograph courtesy of James Pan

Academic hurdles in college stymie many budding doctors, engineers and researchers: More than half of all college students who enter science, technology, engineering and mathematics (STEM) fields change their majors or drop out.

As an undergraduate, Yoo Jung Kim — now a first-year Stanford medical student — and three colleagues at the Dartmouth Undergraduate Journal of Science observed this attrition first hand and decided to do something about it. Together, they wrote a practical guide for aspiring science students, providing insider advice on topics ranging from how to pick a major to how to start a research project. Kim told me about her new book, What Every Science Student Should Know, in recent emails:

What inspired you to write this guide for science students?

“In November 2011, the New York Times published an article titled, Why Science Majors Change Their Minds (It’s Just So Darn Hard). At that time, all of us had seen friends struggle with their science classes; some of our peers had even been discouraged enough to change their majors. This article confirmed to us that the problems with STEM education were a nationwide phenomenon and we felt like we already had some of the solutions.

We started interviewing highly successful science students at Dartmouth and other colleges throughout the country to see what they were doing differently. From there we distilled those observations into sample chapters that we pitched to literary agencies and publishers. Too many college students planning to study science and medicine change their minds later in their academic careers. Many of these students slip through the cracks in massive lecture‐based classes where they don’t necessarily get much advice or attention. We feel that our book could provide the guidance that most students need.”

Who is your target audience?

“We wrote this book primarily as a resource for early college students and ambitious junior and senior high school students interested in the sciences. However, its content can benefit anyone from a high school freshman to a recent college graduate. Our book covers ways in which students can improve their study skills, master their courses, find mentors who can guide them, conduct scientific research and prepare for their future careers.

Our hope is that readers will find the book to be a pretty comprehensive guide to their life as a science student, as well as their transition from college to the outside world. The book draws on interviews with a full spectrum of different science majors, winners of national scholarships like the Rhodes, founders of startups, researchers, and more — to give a broad overview of where science can take you.”

How did you find time to write a book during college?

“By the time we had secured a publishing contract, most of us had graduated from college already. We were literally dispersed throughout the world — Beijing, Michigan, and New Hampshire — so we held Skype meetings every two weeks. We kept to a tight schedule based on an outline we had come up with early on in development. As for myself, Dartmouth College let me work on the book for academic credit as part of an independent writing project during my senior year. We all spent many nights and weekends writing the manuscript over the course of a few years time.”

Are you planning to write any more books?

“Yes! There are a couple of subjects that I’ve been wanting to pursue, but the biggest problem is finding the time, especially since medical school is already a full‐time endeavor. In the future, I want to write a book that showcases scientific research as a human endeavor filled with setbacks and triumphs.”

What advice do you want to pass on to new college students?

“Don’t get overly discouraged by a bad grade in a science class. Throughout the country, science classes tend to give students lower grades than classes in other subjects. A bad grade is not necessarily a reflection of your work ethic or aptitude for science.

By the end of my sophomore year, I had racked up several Bs and B minuses in college science courses. I wondered whether I’d be able to get into any medical school, let alone Stanford. Fortunately, I found mentors at Dartmouth who helped me regain my confidence: physician mentors who helped me prioritize my time and upperclassman who shared their study tips and cheered me on. Starting in junior year, I aced all of my courses. I asked the upperclassmen that helped me to succeed — Justin Bauer, Andrew Zureick and Daniel Lee — to join me in writing our book, so that everyone could have the mentorship experience that I had been lucky enough to receive.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

NASA videos highlight using omics to study what happens to a body in space

Space is a hostile place, even inside a spacecraft. Radiation, weightlessness and isolation are only a few of the unique stressors faced by astronauts during space travel.

As NASA prepares for a manned journey to Mars, researchers are studying what happens to the human body in space to determine the health risks of a several-year mission. This research includes a unique study of identical twin astronauts to investigate the effects of spaceflight at a molecular level — comparing data from Scott Kelly, who recently completed a one-year space mission, with data from his brother who led a normal life on Earth.

NASA recently produced a series of web videos, “Omics: Exploring Space Through You, ” that discusses its twins study and features Michael Snyder, MD, professor and chair of genetics at Stanford and principal investigator on one of the projects. Omics is a field of study that integrates different types of molecular information and, as Snyder explains in the introductory video:

“In many respects, it’s like a jigsaw puzzle. A jigsaw puzzle can be made of 1000 pieces but you don’t really see the picture until you put all those pieces together. That’s the same for omics; you basically try and understand all of the individual pieces so you can see the whole picture.”

NASA is making billions of measurements of both twins to see what space really does to the human body. And researchers hope that one day omics profiles will be conducted on a large scale in clinics, not just on astronauts, so we can switch from a “one size fits all” approach to personalized medicine.

“OMICS is really an amazing field where we can look at people and their health at a level that’s never been possible before,” Snyder comments. “And with that we’ll be able to better manage people’s health and try and keep them healthy long before they get sick.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

“I wasn’t afraid to fail at my dream”: A physician-chef discusses her unusual career

Photo courtesy of Michelle Hauser
Photo courtesy of Michelle Hauser

How do you combine internal medicine, nutrition, culinary arts and public policy into a single career? Ask Michelle Hauser, MD, who has integrated her eclectic training into a unified research program to help improve the health and wellness of people in underserved communities.

Although Hauser always dreamed of being a physician, she began her career as a Le Cordon Bleu chef with a culinary internship at Alice Water’s famous restaurant, Chez Panisse. Hauser then put herself through college at Humboldt State University by teaching at local cooking schools, before going on to Harvard to earn her MD and MPA.

Hauser is now a postdoctoral research fellow in cardiovascular disease prevention at the Stanford Prevention Research Center and practices primary care at Fair Oaks Health Center, a clinic for those with limited access to health care in Redwood City. She is also on the board of directors of the American College of Lifestyle Medicine. I recently spoke with Hauser about lifestyle medicine and medical care for the underserved: 

Why did you become a chef when you dreamed of being a doctor?

I grew up poor in rural Iowa, without a support system or parents who had gone to college. My high school guidance counselor actually laughed at me when I told her I wanted to be a doctor. She said, “let’s find something more suitable for you to do,” and went on to suggest that I work at a local factory.

So I went to culinary school because I love to cook. And everyone told me that I’d never be a doctor, so I thought maybe they were right. As I finished culinary school, however, I knew that I wasn’t afraid to fail at my dream of becoming a physician. I would, however, regret not trying.

How did you become interested in treating medically underserved patients?

Coming from an underserved background inspired me to focus on medical care for the underserved. Additionally, I became very interested in the prevention of chronic disease —particularly via lifestyle changes — and the disparities in access to preventive care and services.

I’m currently involved with Fair Oaks Health Center’s care transformation project to increase and improve wellness resources for patients with metabolic risk factors for cardiovascular disease and diabetes. All resources and classes are available in Spanish and English. It’s truly rewarding to work with a diverse group of physicians, nurses, dieticians, psychologists and health educators to brainstorm and test new models of chronic disease prevention and treatment in this type of underserved clinical setting.

What is lifestyle medicine?

Lifestyle medicine is a field of medicine that encompasses research, prevention and treatment of disease caused by lifestyle factors such as nutrition, physical inactivity, smoking, excessive alcohol use, poor sleep and chronic stress. These lifestyle factors are currently responsible for nearly 80 percent of both chronic diseases and healthcare spending.

A goal of the American College of Lifestyle Medicine, and lifestyle medicine in general, is to improve personal and population health — adding both life to years and years to life. I was inspired to join the board of directors of ACLM because I fervently believe that healthcare needs to better address the root causes of disease and not just treat the downstream effects.

How can you motivate people to make lifestyle changes and stick with them?

This question is the elephant in the room. While there are many examples of people — myself included — who have turned their lives around with improved lifestyle habits, we have yet to find the perfect set of instructions for everyone to change their behaviors.

However, there are many promising techniques out there and much research currently being done. For instance, Brian Wansink, PhD, professor and director of the Cornell University Food and Brand Lab, has done a lot of research investigating how we constantly make mindless choices — particularly about what and how much to eat. He has shown that if we swap healthy items for unhealthy ones in the places that we’re most likely to select our food, we won’t even notice that we’ve suddenly opted to eat healthier.

We also need to change the way preventive care and lifestyle-based treatments for chronic diseases are paid for. Unless government and private insurance programs reimburse these services, most people will not have access to them.

How do you use nutrition and culinary education in your practice?

When I was in medical school, we piloted and evaluated a program that used shared medical appointments that incorporated cooking demonstrations and nutrition classes with primary care management for patients with cardiovascular risk factors. We found the program to be feasible, cost-effective and well received by patients.

I went on to conduct similar group sessions in my residency primary care clinic, and am now working on several projects that utilize cooking skills for disease prevention and treatment in my current practice and research.

With your busy work life, do you still have time to cook for yourself?

Absolutely! I cook most of the meals that I eat. These are not generally the fancy fare that I prepared in restaurants or culinary classes, but satisfying, delicious and healthy, all the same. I occasionally post about these recipes and answer food and nutrition-related questions on my blog, Chef In Residency. Pictures of other quick meals that I make on weekdays can be found on my Chef In Residency Instagram page.

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

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