Racing Against Death

lainevanhoutan
Photo Credit: E. Jason Wambsgans / Chicago Tribune

Laine VanHoutan, a posterchild for kids around the world fighting Batten Disease, died at the tender age of 12 – but not before helping usher in the first treatment for her disease, one that may help prevent a similar fate for her peers.

Laine and 64 children who contributed to the clinical trial for this new treatment, Brineura, are true heroes. But they also highlight a tragedy in medicine. 95% of rare diseases are untreated – Batten Disease has a 100% fatality rate with an average lifespan of just 12 years old – and many rare diseases are not diagnosed until irreversible damage sets in.

Moreover, due to its rarity – Batten Disease only affects 2 in 100,000 kids – it is very difficult to find enough patients just to test whether a promising drug works. If we can figure out how to diagnose children with rare disease earlier before irreversible damage sets in, we can potentially save children like Laine.

I’ve always disliked the term “Rare Disease” because, as a whole, these patients are everywhere. Do you know somebody with rare disease? How about somebody who is left handed? 1 in 10 people has a rare disease. That’s the exact same proportion that is left handed! There are over 7,000 rare diseases so, while each one may be rare on it own, many of us are silently fighting a rare disease.

The good news: You can help.

We started WeHealth to tackle some of the issues facing Laine and others with rare disease. A major issue is the diagnosis problem. Many rare diseases begin showing symptoms long before patients end up in the hospital. For instance, children with Batten Disease may exhibit learning impairment, clumsiness, and seizures years before a diagnosis.

We work with advocacy groups to identify these symptoms and ask you get them out on your social networks. You may have friends whose kid matches these symptoms or you may know a healthcare worker who sees lots of these kids but hasn’t heard of Batten Disease (with 7,000 rare diseases, it is very common for this to be the case).

Sharing this information can easily save a life. Check out our new campaign to help rare disease patients and help with a few clicks:

wehealth.io/intro/12/

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Searching for a rare disease diagnosis

JillVilesNPRThere’s a great podcast on NPR’s This American Life that I heard recently called “Do These Genes Make Me Look Fatless?” This podcast describes the diagnosis journey of Julie Viles, a wheelchair-bound Iowa mother with almost no muscle mass, who was convinced that she shared a mutation with Olympic sprinter, Priscilla Lopes-Schliep.

Despite the obvious differences between the two (see above picture), Jill saw a similarity that she couldn’t ignore. Says Jill, “It was just unmistakable. It’s like a computer that could analyze a photograph and get a match, and be 100% sure that’s the same shoulder. That’s the same upper arm. I see the same veins. I see them branching this way. You just know. And that’s hard to convey. How could you just know? But I knew we were very likely cut from the same cloth– a very, very, very rare cloth.”

Jill believed that they both had familial partial lipodystrophy (FPL), a disease in which fat is improperly stored, leading to very distinct body types — and often sudden cardiac death in middle age. Many FPL patients never receive the diagnosis that saved Jill and Priscilla’s lives. WeHealth has launched a powerful new social media-driven tool to reach these patients and connect them with life-saving diagnoses and treatments.

Check out our campaign at http://wehealth.co/goals/9/

Curing Rare Disease: What We Have to Gain

30% of children with rare disease will not live to see their 5th birthday.

This reality reflects the inability of our medical system to diagnose and treat children with rare disease. While we have made significant progress, there is clearly a long way to go. In today’s world, where technology advances at a breakneck speed, it is unacceptable that we have been unable to find a way to keep these children alive.

To put this into perspective, I performed some back-of-the-napkin math. According to the CDC (link), 1 in 500 newborns died before their 1st birthday due to a rare disease. In other words, 0.2% of all children who enter into the world never have a chance to live out their dreams. While 0.2% may seem small, if you apply it to the US population, 700,000 people could have been alive today if we had means to cure their rare disease. To see what we lost out on, I applied these numbers to several professions (numbers from Department of Labor Statistics).

Below, see what these children could have achieved, given the chance:

1in500

We need to change the thinking that these diseases are rare.  Imagine the impact if 1,700 police and firefighters suddenly disappeared.  If we suddenly lost 8,000 doctors and nurses or 85 professional actors and musicians.  God forbid a congressman disappears.  Can you imagine the outcry?

These children have so much to offer the world.  We just need to give them the chance.

Incentivizing Social Search

The world is smaller than it has ever been. This observation reflects how the Internet and social media have strengthened our ability to connect with people and maintain those connections regardless of our physical distance. We have used social media to revive dormant friendships, make friends on the other side of the world, and expand our networks far beyond what was once possible.

Social media has also enabled us to document our connections, resulting in a “virtual rolodex”. We now have the ability to find almost anybody in the world through the mutual friends and connections that we have on Facebook, Twitter, LinkedIn, and Instagram, among others.

Stanley Milgram’s “Six Degrees of Separation” law states that we are between 5 and 6 connections removed from anybody in the world. So if my friend is 1 degree removed, and my friends friend is 2 degrees removed, I am only 3-4 more degrees removed from connecting with anybody in the entire world. This works because our networks grow exponentially with distance. In other words, if I have 100 friends, and each of those friends has 100 friends, my “2nd degree” number of connections is 10,000. My “3rd degree number of connections is 10,000 X 100 = 1,000,000. There will be overlapping of friends, but it doesn’t take long to get into a number in the billions, which covers the rest of the world.

To have some fun with this idea, play the “Six Degrees of Kevin Bacon” game (link), which can connect Kevin Bacon to any actor in the world where each degree of connection is defined by two actors acting in the same movie together. I bet you can’t find an actor more than 6 degrees removed from Kevin Bacon! Also check out this graphic from 3QuarksDaily, which connects former President G.W. Bush with some of his foreign enemies based on shared honorary degrees.bush6degrees

While this is a cool phenomenon, how can we put it to use? Manuel Cebrian is a leading expert on using our social networks to find people and solve problems. He found that we can get people to participate in social search to find extremely hard-to-find targets by providing the right incentives. And the solution, while not immediately obvious, is elegantly simple and powerful! Read his story about how these elegant incentives create a powerful search tool that works by crowdsourcing people’s social networks (link).

We are inspired by Manuel’s work and are applying the principles of his research to find rare disease patients and connect them with advocacy groups and research opportunities. Hope you enjoy the read!

A Day in the Life of a Rare Disease Patient: Research

“I would be happy to take part in any research if it means future generations do not suffer.” – Patient, Ehlers- Danlos syndrome.

“Medical staff (when I asked) were either dismissive or were not aware of current research…” – Patient, mal de debarquement syndrome.

“There still isn’t enough being done to let people know there is a research project going on. I would not have known about the research projects related to my conditions if I had not been intensely proactive looking for it.” – Patient, spontaneous coronary artery dissection.

“Social media is being used as a tool for recruitment, and also through the internet there is opportunity for people to be proactive and find research in which they would be eligible to participate.” – Patient, Cowden’s syndrome.

Rare Disease UK published the results of a survey to 1203 individuals affected by a rare disease in January (link) to understand their realities. I will post summaries of four sections in the report: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

95% of rare diseases lack an approved treatment. That leaves an enormous unmet need for research within the rare disease community. Fortunately rare disease patients overwhelmingly support and participate in research. 80% of survey respondents indicated that they would participate in research, and another 15% were unsure, with only 4% stating that they would not be interested.

While enthusiasm for research is high, knowledge about research opportunities is very low, with over half of respondents indicating that they felt uninformed. Another half of respondents said that research awareness has improved over the past five years, much of that having to do with social media. However, patients are still often on their own when it comes to finding research opportunities.

“To find details about research you have to know where to look. Promotion and interpretation of the research relies on a few individuals and organisations.” – Patient, hereditary spastic paraplegia.

Our core mission at WeHealth is to provide a more effective way for getting these research opportunities to patients. Our platform engages the crowd – or YOU – to accomplish this. We have built an incentive structure in which you can get points for connecting a target patient with a research opportunity OR for sharing the message to a friend who successfully makes that connection. This method is a form of social search called “referral-based crowdsourcing”, and it has proven very effective for finding rare “needle in a haystack” targets.

WeHealth makes it incredibly easy for everybody to participate in advocacy. By simply sharing messages with your friends, you can become an advocate and help these patients in a very real way.

View other articles in the “Day In The Life” series: Patient Empowerment,Diagnosis, the Undiagnosed, and Research.

A Day in the Life of a Rare Disease Patient: The Undiagnosed

“I have found that as soon as other conditions are ruled out the wait to get a diagnosis is painfully slow. With anything that requires uncommon tests or treatment the funding is not there and so we are pushed to one side and made to wait…” – Patient with an undiagnosed condition.

“Health professionals seem unsure how to help me as they seem reluctant to prescribe things when they are unsure of the underlying condition. I have a local physiotherapist but had to wait 6 months for this service. I have had to fund my wheelchair and mobility needs myself and research my own condition.” – Patient with an undiagnosed condition.

Rare Disease UK published the results of a survey to 1203 individuals affected by a rare disease in January (link) to understand their realities. I will post summaries of four sections in the report: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

As we explored in the Diagnosis article, the average rare disease sufferer waits 4 years to receive the correct diagnosis. There is a huge emotional impact to not having a diagnosis, and 87% of undiagnosed respondents in the survey reported not being provided enough information and support during the diagnosis process.

Patients report feeling “isolated on an island” with debilitating symptoms but nobody to help them cope. In the absence of a disease name, there is no category, and therefore no community to provide guidance to these patients and recommend treatments. As a result, the undiagnosed are left to find they way alone as their unnamed disease continues to do damage.

Receiving adequate care becomes very difficult without diagnosis. 80% of respondents indicated that lack of diagnosis had been a barrier to receiving care. Whereas a diagnosis can guide treatment and help providers anticipate associated conditions, these patients are left moving from doctor to doctor – an average of 10 total for respondents who are presently undiagnosed – receiving endless rounds of tests and shot-in-the-dark treatments.

Crowdsourcing platforms CrowdMed and Sermo present the symptoms of undiagnosed patients to large networks of doctors who work toward solving these medical mysteries. These platforms can be very effective in finding diagnoses for these undiagnosed patients.

WeHealth is applying crowdsourcing from the opposite direction. We are working with the advocacy groups and communities that represent underdiagnosed diseases and using crowdsourcing to look for undiagnosed patients who fit their symptom profile. We know that these undiagnosed patients are out there. We can use crowdsourcing to find them and end the hardship of being undiagnosed.

View other articles in the “Day In The Life” series: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

A Day in the Life of a Rare Disease Patient: Diagnosis

“The worst thing is not knowing what is wrong with you. I waited 18 years for a diagnosis.” – Patient, Ehlers-Danlos syndrome and POTS

“Any rare disease with a range of symptoms is difficult to diagnose. My condition was only recognized by a consultant who had seen a similar case 13 years earlier.” – Patient, Whipple’s disease

“The whole process of diagnosis was one which I never wish to repeat. I was labeled a ‘neurotic’ parent by a pediatrician and not taken seriously.” – Parent of a child with Noonan syndrome

Rare Disease UK published the results of a survey to 1203 individuals affected by a rare disease in January (link) to understand their realities. I will post summaries of four sections in the report: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

The odyssey that rare disease sufferers must undergo to find their diagnosis has been well chronicled. The average respondent in this survey consulted 5 doctors, received 3 misdiagnoses, and waited 4 years before receiving their final diagnosis. Respondents reported being doubted by their doctors and accused of imagining their symptoms.Screen Shot 2016-02-08 at 6.09.46 PM

We need to be careful not to place too much blame on physicians. The odds are simply not in favor of a speedy rare disease diagnosis. With 7,000 total rare diseases out there – many of which most doctors will never see in their careers – it is difficult to know all the signs to look for. While the current medical system works well for common diseases, it is not set up to detect rare diseases.

Since the system is not set up to diagnose rare disease patients at an acceptable level, we need additional tools to help these patients. Advocacy groups are an example of such tools, as they work to educate the medical community to consider rare diseases when there is no obvious explanation for symptoms. We look to use WeHealth as another tool in the rare disease advocate’s arsenal.

Once we launch the WeHealth platform at the end of February, we will be able to share the messages of these advocacy groups through our social networks to reach those who are suffering from these rare diseases and have not yet been diagnosed. When these target patients are successfully reached, those involved in sharing the message are credited for their role in the success. By doing this, we enable everybody to become advocates.

View other articles in the “Day In The Life” series: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.