Virtual zeal: rare disease caregivers carry a powerful voice in social media

Source: PharmaPhorum
This article highlights how rare disease patients and caregivers can harness the power of social media to support or challenge pharmaceutical companies. The equivalent of a modern day megaphone; telephone; and printing press combined; social media showcases its power in no more passionate…

By Melissa Hogan


This article explores the voice of rare disease patients and caregivers in social media and the power they wield to support or challenge the pharmaceutical companies that serve them.

The equivalent of a modern day megaphone; telephone; and printing press combined; social media showcases its power in no more passionate an arena than in rare disease.

While some think of Facebook as a fun pastime; in private rooms or sometimes publicly; rare disease sufferers and their caregivers are offering diagnoses and treatment advice; discussing side effects; and advising on every other aspect of life with a chronic or rare condition. While some follow celebrities on Twitter; those affected by rare disease might use Twitter to make sure their views are heard by pharma and their governments alike.

On the heels of Rare Disease Day; you’d be remiss not to know that rare disease advocates are often proud of their status as ‘zebras’. “If you hear hoofbeats; think horses; not zebras” is the oft-quoted tenet of medical diagnosis; the assumption being that often the simplest explanation; rather than a rare or exotic disease; is usually the best.

Zeal is not just a pack of zebras

It is that perspective that has made rare disease groups stand up and proudly claim the title of zebras; often displaying stuffed zebras at their events. But when zebras become a pack; as they often do on social media; they become a zeal; a title that is not only categorically appropriate; but descriptively appropriate as well.


Figure 1: Zebras on display at Rare Disease Day 2011 at National Institutes of Health. Photo courtesy of National Institutes of Health.

In addition to describing a pack of zebras; zeal is defined as “great energy or enthusiasm in pursuit of a cause or an objective.” More than almost any other online group; those affected by rare disease approach their cause of support; education; medical care; and advocacy with great energy and enthusiasm. In describing them and others like them as the “alpha geeks” of health care; internet geologist Susannah Fox notes: “They are in the crucible. They ‘roll their own’ by creating communities of health information exchange where none had existed.”

Feeling the zeal

Not only can rare disease patients utilize social media in their diagnosis; support; and treatment efforts within their population; one should be cognizant of both the benefits patients can confer in raising awareness and getting expensive treatments reimbursed; but also the damage they can inflict via the democratizing medium of social media. An example of both can be found in the efforts of Canadian-based The ISAAC Foundation and its founder; Andrew McFadyen; a parent of a child with the rare disease Mucopolysaccharidosis (MPS) VI.

To date; Mr. McFadyen’s social media efforts have succeeded in obtaining reimbursement of high priced enzyme replacement therapies for several patients; including his own son Isaac; by their Canadian provinces after the provinces first declined or delayed reimbursement. While pharma companies are surely lobbying for reimbursement of their treatments; sometimes only the efforts of the patients they serve are viewed with collective sympathy.

In 2012; for example; the family of a young girl with MPS VI; Violet Revet; had been awaiting for approximately six months for word on reimbursement for the drug Naglazyme® by the Saskatchewan; Canada health ministry. Without an answer; and watching the disease progress in their daughter; the parents went to Mr. McFadyen for help. A Twitter campaign caught the attention of Premier Brad Wall who responded and the treatment was approved within days. The effect was as clear as the Premier’s statement: Twitter “democratizes things.”

Amplifying the voice of reason

While pharma can benefit from the efforts of patient advocates; they can be the target of such efforts as well; such as Mr. McFadyen’s latest endeavor; which I was able to view from the inside out.

Over the last several years; scientists began studying the use of a Janssen FDA-approved drug for interstitial cystitis called Elmiron® for the bone and joint problems that plague children with MPS. The ISAAC Foundation was one financial supporter of those studies. Data from small animal studies were completed in 2012 and presented at several conferences. This precipitated Mr. McFadyen’s conversations with Janssen itself to explore the research further and possibly support human trials.


Figure 2: Isaac McFadyen (front) who suffers from MPS VI; flanked by his family including his father and advocate Andrew McFadyen (right). Image courtesy of The ISAAC Foundation.

According to Mr. McFadyen; his efforts were rebuffed several times until finally in February 2012; he began a social media campaign; including a website not so subtly titled “”; Twitter and e-mail barrage; and Facebook community to encourage Janssen / Johnson & Johnson to reconsider its decision. The campaign culminated around February 28; Rare Disease Day; with several Janssen executives receiving hundreds of e-mails from impassioned parents and supporters of MPS families.

On March 1; Johnson & Johnson changed its Twitter handles that had been receiving some of the barrage; from @JNJComm and @JNJStories to the new @JNJCares; @JNJParents; and @JNJNews. Janssen also quickly began organizing a medical advisory board to both bring Janssen up to speed on a disease with which it was unfamiliar (Mucopolysaccharidosis) and to consider the scientific evidence and what next steps to take.

Some might disagree with the public pressure of social media tactics like those employed by Mr. McFadyen and his supporters; calling it public bullying. When asked what he thinks of those who might say that using such tactics make him a bully; Mr. McFadyen replied:

This is not being a bully. I’m just one man with a firm belief in the rights of those with rare disease to have treatments just like those with cancer or heart disease. One might instead call a large pharmaceutical company or a government a bully when they make decisions without considering who they affect. With social media; we simply help amplify the voice of reason.

Whether studying; interacting; advertising to; benefitting from; or even suffering from the behaviors of rare disease sufferers on social media; it is clear that their behaviors and efforts cannot be ignored.






Twitter makes me a better doctor: 4 reasons why I use Twitter

By Brittany Chan

twitter doc

Even as social media use among physicians gains popularity, I continue to hear doubts echoing from my fellow medical students, residents, and attendings, particularly about the use of Twitter.

Many of them ask how using Twitter has benefited me, and my answer almost always makes them stop and think.

My life has been enriched by the network of intelligent and forward-thinking people I have connected with on Twitter–many of them medical students, doctors, nurses, pharmacists, or other professionals who have made the leap into social media.

I have become a more well-rounded person and a more knowledgeable and confident future physician–and I’ve learned so much.

Why should medical professionals consider joining the Twitterverse?

The following are just a few reasons.

Stay up to date on news and literature. Doctors (and med students!) are busy and don’t always have time to seek out what’s happening in the world. Twitter conveniently brings news and research directly to your feed.

As a medical student and future pediatrician, I follow accounts of official medical associations, such as the AAP (@AmerAcadPeds) and AAMC (@AAMCToday), leading medical journals, including JAMA (@JAMA_current) and The Lancet (@TheLancet), as well as several different kinds of physicians who frequently tweet interesting new articles.

I first learned about last year’s pertussis epidemic in Seattle on Twitter, and have followed tweets about this year’s flu throughout flu season. I frequently stumble upon studies that may help me in practice; last week I learned that cefdinir and iron-supplemented infant formulas may cause non-bloody red stool when taken together. I also follow various media news outlets, such as CNN, The New York Times, and The Wall Street Journal to keep up with current events.

Share ideas and learn from others. Twitter is an open forum of conversation for the world. In my opinion, this is the most valuable use of Twitter.

I follow people who tweet about things that interest me, both medically related and not. As a medical student, I’ve used Twitter as a study tool, asking questions and gleaning knowledge from physicians, residents, and other students. I listen and converse in various tweet chats, such as the mobile health (#mhealth), healthcare social media (#hcsm), and medical education (#meded) chats. I hear patients share their stories and follow blogs.

Some of my favorite blogs are written by parents of children with special needs. is a fantastic blog about Noah, a beautiful boy with Down Syndrome. The post of his birth story brought me near tears and provided an intimate look at his parents’ reaction to his diagnosis. I learned what they liked and disliked about their doctors’ delivery of the news, and how much they loved their son.

Blogs like this have given me a new perspective on this special families’ challenges and triumphs. This will undoubtedly help me care for my patients with special needs in the future.

Help patients. This does not mean doctoring patients on the Internet, following my patients on Twitter, or anything of the sort. Patients are online, though, and many are on Twitter. As medical professionals, we can help disseminate accurate health information on the web. Twitter provides a great avenue for physicians to steer people to reputable websites for health information, dispel myths, share helpful articles, and educate people on medical issues.

For example, I tweet and retweet articles from the CDC about vaccines, parenting advice from, and various other health tidbits from academic medical institutions.

It’s fun! Perhaps my favorite reason to tweet is that it’s fun! I love spending time on Twitter. I learn something new every day and read many hilarious or otherwise entertaining tweets along the way. I’ve connected with people I never thought I would, all with a myriad of ideas and opinions. The environment is so dynamic.

Twitter is an exciting mode of communication, and is something I engage in because I enjoy it. If you’re thinking about embarking on your own Twitter journey, but are worried about time commitment, just remember, what you do with it or how much time you spend on it is completely up to you. You don’t even need to be particularly tech-savvy to use it. It requires only the ability to type and click, I promise!

Of course, always be careful what you tweet and use good judgment. While Twitter may not be for everyone, I have found it both personally and professionally rewarding, and encourage all health professionals to give it a spin.

Brittany Chan is a medical student who blogs at, where this article originally appeared.  She can be reached on Twitter @BChanMed.

Rare disease tweet chat: how can rare diseases gain more media attention?

Imageby Rebecca Aris


Rebecca Aris highlights the recent tweet chat on the topic of rare diseases hosted by pharmaphorum.

On Friday 1st February this year, pharmaphorum hosted a tweet chat on the topic of rare diseases. Many rare disease patients came together through this social media channel to discuss topics in this space. This article details some of the responses and themes that arose.

How has social media affected rare disease patients?

The first question we asked participants was how social media has affected rare disease patients. Here are some of the responses we had to this question:-

  • Information via social media is power for rare disease patients.
  • Social media has provided an amazing opportunity for rare disease patients to find each other and share support.
  • Social media allows patients the opportunity to engage with companies who are developing drugs for rare diseases.
  • In Wilson Disease group, someone newly diagnosed from the UK posted a question and got replies from people in five countries in approximately 36 hours.
  • Social media has given people with cystic fibrosis the tools to put real pressure on public healthcare systems to fund new drug.

So it seems that social media offers information, a platform to connect, support and access to global communication – instantly.

Rare disease patients and clinical trials

We asked our tweet chat participants how they found clinical trials and how they calculated the risk of participating. Here are their answers:-

Patients are clearly quite clued up when it comes to resources in this area. They naturally still express concern over the fact there is often no alternative treatment option, and they want to be as informed as possible.

How can we raise awareness of rare diseases?

Rare diseases need more media attention! This was a message that echoed throughout the chat. Rare diseases need more media press so the public can see that this is a common problem that needs to be addressed. Some popular responses to this question from the tweet chat are below:-

  • One tweet, one post at a time.
  • Sharing the simple fact that collectively rare diseases are not rare. One in ten Americans lives with a rare disease.
  • Need high profile media attention.
  • Increased interaction between all relevant stakeholders from patients to regulators.

So how can we gain media attention in this area? The question remains and given the fact that collectively rare diseases are common it’s clearly time that this area received more attention.

How can we reduce isolation of rare disease patients?

When interviewing rare disease patients a common topic that arises is the feeling of isolation that rare disease patients experience. When questioned on how we could reduce this feeling of isolation our tweet chat participants came up with the following suggestions:-

  • So many wonderful online options like @inspire @patientslikeme @wegohealth and groups like @RareConnect and @bensfriends can also help
  • Check out #pcori.
  • Social media, especially Facebook groups can reduce isolation of rare disease patients.

Online rare disease communities, it seems, really do make a difference in offering support and reducing isolation.

If you could tell pharma one thing – what would it be?

Many patients express an interest in wanting to be able to communicate more openly with pharma. We asked our tweet chat participants if they could tell pharma one thing what would it be. Some of the responses were as follows:-

  • Newly diagnosed rare disease patients want pharma to extend to support groups and offer an explanation of the drug development process.
  • Rare disease patients need safe, effective treatments and they want to work together with pharma.
  • We want a cure, but we’ll take a treatment.

A common theme was that they wanted to work more closely with pharma and wanted more education on how pharma works and, specifically, the drug development process.

As a rare disease patient, what gives you hope for the future?

We closed the tweet chat by asking what it is that gives rare disease patients hope for the future. Here is what they said…

  • Other inspiring rare disease patients / families.
  • More funds being allocated for research into rare disease treatments.
  • Incredible gene therapy advances.
  • More venues to communicate.
  • Industry interest, young generation of academic researchers.

It seems that rare disease patients are hopeful that therapeutic advances, increased communication with pharma and increased funds in this area are contributing toward the treatments and cures of the future.

We’d like to thank those who participated in the chat for sharing their thoughts with us and engaging in this lively debate.

You can view the whole conversation on Appeering here or on Storify here.


"I Challeng Rob" Win an iPad 3 4 categories and many prizes click to learn more

Join the “I Challenge Rob” contest and support rare diseases

Are YOU up for a Rare Challenge and a chance to win an Apple iPad 3? (Launching in March)

Or if you are a company, organization, academia or celebrity/politician/sports figure you can win prizes too!

My name is Rob Derham, Founder and President of CheckOrphan (501c3 non profit).  Are you ready to make a difference for RARE DISEASES by challenging me “Rob”?

From February 14 – March 17 in honor of World Rare Disease Day (February 29):  If your network of people can raise more donations than all other participants in that period – then you will win an Apple iPad 3 and be highlighted in the news!!

Entry Categories

  • Private Individuals – Apple iPad 3 Contest
  • Celebrities, Politicians, Nobility, Sports Figures Category
  • Company Category – Logo on CheckOrphan
  • Organization – Logo on CheckOrphan
  • Academia – Logo on CheckOrphan

Get started – How  “I Challenge Rob” Works

    • Private Individuals
      • Become a Champion and make a donation of $1 or more, or Sponsor a Rare Disease Page.
      • During the payment process, in Step 3, click on the circle “Yes, I want to win an iPad 3”.
      •  Then enter the name you want to use as a Challenger in the contest in the box below. This can be your real name or a code name ( (Ex. Mister Network) and finish the payment process.
      • Contact your network of family, friends, social media, work colleagues and others and give them your name.

    • Entities
      • Become a Champion and make a donation of $1, or more or Sponsor a Rare Disease Page.
      • In Step 3 of the payment process, when you add the name and link for the company, this will enter you in the contest once your payment is complete.
      • Contact your network of family, friends, social media, work colleagues.
  • All donations are tax-deductible.


  • Use Facebook to create an event and invite all your friends or fans (entities)
  • Use as many social media platforms available to get the message out and to thank your network once they donate.
  • Persuade your company or organization to support you by matching whatever funds you raise through your network with your name as the challenger.
  • Create a video and put it in social media
  • Concentrate first on 10 people who will really know well and ask them to try and set a goal to get 10 people from their network
  • Then look at people who always forward you emails. Ask them to join in this great cause and to refer you!!
  • Email campaign
    • Start with a personal email to all your contacts individually
    • Use some of the facts about rare diseases below
    • Add links in your email to the videos that show how your network can donate with you as the challenger
    • Then use MailChimp to give them updates on a weekly basis throughout February with friendly reminders to show their support for you and rare diseases
    • Include educational and persuasive videos from CheckOrphan’s video archive
    • Build momentum as March 17 approaches


If your network raises the most funds through any combination of donations or rare disease page sponsors , you will win the following:

Private Individuals

  • iPad 3
  • News article about your success in raising awareness
  • Free access/attendance to a rare disease conference

Celebrity / Politician / Nobility / Sports Figure Category

  • Personal video on CheckOrphan that appears in all news articles for one month (optional)
  • Key note address at a Rare Disease Conference (optional)
  • News Article on CheckOrphan

Entities (One Winner from each of the 4 Categories mentioned above)

  • Your logo linking to your homepage at the top of every page on CheckOrphan for one month
  • News article about your entity


  • Any sexist, racist or vulgar referral names will be removed and you will be disqualified. Please, be considerate. Rare diseases are a very serious issue for millions of people whose lives are devastated by them.
  • No cheating, but fair creativity is encouraged
  • You cannot use “I Challenge Rob” to promote products, religion, politics and so forth, but you CAN use it to promote CheckOrphan and rare diseases
  • Neither I nor CheckOrphan is responsible for any taxes incurred if you win

How “I Challenge Rob” Started

The “I Challenge Rob” campaign unfolded after talking with some friends about how we can make a further impact for rare disease. A couple of them responded to my challenge by offering to raise more funds through their network of people than through mine. With each of us having a passion for rare disease awareness and wanting to make a difference in the rare community, the concept of “I Challenge Rob” was created.

About Rare Diseases:

As the Founder of CheckOrphan, I am deeply affected by patients, researchers and many others in the rare disease community who are neglected by the media and society due to the fact that individually, rare diseases do not affect a lot of people. However the reality and results of isolation and neglect to communicate the needs of the rare community greatly impacts the care and treatment options available to those whose life is changed forever by a rare disease.

IMPACT – facts about rare diseases

  • There are roughly 7000 rare diseases and less than 5% have a treatment or cure
  • Nearly 1 in every 10 people has a rare disease
  • About 70% of rare diseases affect infants and children – most will never make it past their teens
  • In the US and the EU alone there are over 60 million people living with a rare disease
  • Diagnosis of a rare disease typically takes 2-3 years, with an average of 2 or 3 misdiagnoses along that odyssey.
  • Rare diseases are an enormous social and economic challenge for society and quite often, a rare diagnosis leaves families in financial despair


That’s why we need YOUR voice! The Rare Disease Community needs the power of communication and knowledge to make a difference in the health of their lives.  CheckOrphan gives everyone the opportunity to communicate what they are doing for the rare disease community by allowing them to submit news, videos, links, events and more. CheckOrphan is solely dedicated to promoting and informing the world about their needs and offering unique solutions that help them along their path to a cure and a better future for us all.

How Will The Campaign Funds Be Used?

  • CheckOrphan promises to keep the information and ability to submit content-free for all
  • Over 95% of funds go directly into producing what you see on CheckOrphan
  • CheckOrphan will provide more content through more partnerships
  • New projects:
    • Global Rare Disease Registry
    • Science Journalism Program
    • Professional Working/Collaboration Platform for the rare disease community

Thank you for joining the cause!