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/

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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.

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.

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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.