How you can fight for health equity

WeHealth empowers patients to reach into their own communities and connect their peers with health resources. As they share, we show a map of how that message has spread through their network, so they can visualize when they help a patient, even if that patient is a friend of a friend of a friend. This makes advocacy more accessible, enabling a large group of people to share clinical trial info in a short period of time and reach underserved patients.

We are launching a campaign to reach African-American, Asian, and Hispanic Diabetics. Check out our how-to video below to see how it all works!

WeHealth Mission – YOUTUBE (3min)

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/

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: 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.