Racing Against Death

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/

Searching for a rare disease diagnosis

There’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 1^st 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:

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 “3^rd 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! The Lexington Herald Ledger created a cool graphic that connects Kentucky celebs to Mr. Bacon.

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.

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.

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

“Everything I know about my condition is due to my own research on the internet. I am unaware how much of this is correct or what I’m missing.” – Patient, Morquio syndrome.

“On many occasions I end up explaining and ‘educating’ professionals about my condition as they have little knowledge and/or have not seen a case like me before.” – Patient, pituitary apoplexy and Cushings disease.

“It is the most isolating part [that there are] no groups, no one to share the illness with.” – Patient, mesenteric panniculitis

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.

We trust our healthcare providers more than any other profession. In fact, nurses, doctors, and pharmacists occupy all three of the top most trusted professions, according to a Gallup poll (link). We trust them and rely on them for the medical information and advice that we need for our wellbeing.

While this system of trust and unidirectional information flow works with common diseases that are well covered in medical schools and diagnosed and treated routinely in hospitals, the system breaks down with rare disease sufferers.

Over half of the survey respondents indicated that they did not receive any valuable information from their physicians and either had to look up the disease on their own, reach out to an advocacy group, or never received useful information on their condition. While 68% of respondents felt that they had sufficient knowledge of their condition, many had to become their own disease experts and have become educators to their physicians.

This role reversal makes it difficult for the undiagnosed or those seeking more information about their condition to find that information. If healthcare providers – the traditionally trusted information sources – cannot provide the information needed by rare disease sufferers, where can these patients turn?

This is where advocacy groups and the patients themselves come into play. Advocacy groups like Rare Disease UK – and Global Genes and NORD in the US – help by empowering patients to organize and consolidate their collective knowledge. Communities such as PatientsLikeMe and Inspire also enable rare disease sufferers to share their experiences, challenges, and treatments. At WeHealth, we use crowdsourcing to leverage our social networks in order to connect these patients to advocacy groups and to each other so that they can share their knowledge.

In an earlier post (link) that I wrote about Matt Might’s son, Bertrand, we saw how crowdsourcing can create a community where there was previously nothing, and how powerful that community can be for empowering those affected and helping them move forward toward finding a treatment. These communities free rare disease sufferers from their isolation, where misinformation, misunderstanding, and misdiagnosis run rampant, and enable them to heal.

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

The Casualties of Ignoring Rare

People are dying due to misdiagnoses. That is not new news and is no secret – especially to those in the rare disease community – but I was reminded of the fact in an article published this week.

The article tells the story of a 21-year-old mom, Hollie (pictured), who died last Sunday from Langerhans Cell Histiocytosis (LCH), a cancer-causing disease in which white blood cells are overproduced. Despite displaying an extreme thirst, “gulping pints of water every five minutes,” and chronic fatigue – two hallmark symptoms of LCH – doctors diagnosed her with depression and sent her off.

It wasn’t until Hollie fainted and a brain tumor was discovered, that she was finally diagnosed with LCH. By then it was too late, and she died after a year of chemotherapy. When diagnosed early enough, over 90% of LCH sufferers survive the disease.

When I speak with advocates for rare diseases, they tell me about how they wish they knew what they know now at the onset of their symptoms. At worst, a correct diagnosis provides peace of mind and community with fellow sufferers. At best, getting diagnosed earlier can stop disease progression and save lives.

At WeHealth, we are working to strengthen that community by using the power of our social networks to spread information, such as the symptoms of LCH, and get it to those in need before it is too late.

Rare diseases are often misunderstood by outsiders and misdiagnosed by physicians, so it is important that we get the word out. Knowledge, in this case, can SAVE LIVES.

Living with a Disease Unknown to Science

Imagine that you have a newborn child and nothing seems right. Your child cannot stay still and is in constant distress. Every attempt that you make to calm your child only heightens the distress. At first, doctors say that there is nothing to worry about, that your child will grow out of it. Finally, after six months, they acknowledge that something is wrong, only to tell you that they do not know what is wrong. The disease is unknown to science.

These were the first six months of Bertrand Might’s life, as told in the New Yorker’s, One of a Kind, an article about the Might family’s quest for their son’s diagnosis. The quest took 3 years and involved several wrong diagnoses, including a false death sentence, flights across the country, and general uncertainty about their son, their unborn daughter, and own lives. They felt that they had their “child hot-potatoed back and forth, nothing getting done, nothing being found out, nobody even telling [them] what the next step should be.” Finally, a Duke sequencing study confirmed that a mutation in Bertrand’s NGLY1 gene had caused the disease, making him the first patient ever diagnosed with NGLY1 deficiency.

Now they faced a different problem: n=1. Bertrand was the only child with this disease. If there are no other patients suffering, there are no advocacy groups to fund research, no government grants, no incentive for drug development. “It’s not actionable,” doctors said. There is nothing that you can do.

The Mights took action. Matt, a computer scientist, used his knowledge of search optimization and reputation in the internet community to design a viral blog post. He engineered “Hunting down my son’s killer” to show at the top of searches that parents in his situation might have made. Half an hour after publishing, people started sharing the story all over Twitter and by the end of the day it was the top story on Reddit. The post had gone viral.

A week later, the post reached a geneticist in Turkey, who had just sequenced two patients with NGLY1. The progress continued to snowball. Matt Wilsey, a Silicon Valley entrepreneur whose daughter had NGLY1 deficiency, read the post and connected with the Mights. A community had formed. Advocacy groups were set up. Scientists began sharing data. Treatment candidates were discovered. While there is still progress to be made, they faced a “non actionable” situation for an “n of 1” disease, took action and found hope as a community.

This story illustrates the power of the crowd to make a difference in the lives of children who otherwise do not have hope. Our social networks have vast reach, and simply sharing a message can help immensely, as seen saw in the story of NGLY1. Together, we can transform these “n of 1” diseases into productive communities for raising awareness, funding research, discovering treatments, and giving hope.

Links: Matt’s original article (link), the New Yorker piece (link), and a video of Matt talking about how sharing on the internet has helped the NGLY1 children (link)