Today, healthcare professionals, research advocates and many people living with rare conditions are coming together to observe Rare Disease Day. It’s all about raising awareness for rare and genetic diseases, improving access to treatments and learning more about what exactly makes a condition rare.
In the United States, a disease is considered rare if it affects less than 200,000 people at any given time. Rare diseases affect almost 1 in 10 Americans, and many times, they cause common symptoms that can be mistaken for other conditions.1
All across the world, people are raising awareness for rare disease. Here are just a few things you can do to join them.
- Wear your favorite pair of jeans today to help the Global Genes Project promote the Blue Denim Genes Ribbon
- Use the hashtags #CareAboutRare and #WRDD2014 and share them with @GlobalGenes on Twitter and Facebook
- Find an event in your state and participate in local activities
- Print out this flyer, take a photo of yourself with it, and submit it to Handprints Across America
Rare diseases have a personal connection with PatientsLikeMe – our co-founders’ brother, Stephen, was diagnosed with ALS (Lou Gehrig’s Disease) in 1998, and their family’s experiences with the condition led to the beginning of PatientsLikeMe. In 2012, we partnered with the Global Genes Project to create the RARE Open Registry Project to help those diagnosed find others like them in one of the over 400 rare disease communities on the site, and launched the first open registry for people with alkaptonuria (AKU) with the AKU Society in early 2013. We also accelerated our focus on enhancing the idiopathic pulmonary fibrosis (IPF) community through a collaboration with Boehringer Ingelheim. And now, the IPF community on PatientsLikeMe is the largest open registry with close to 1,900 members …and counting.
When I first became involved with online communities back in 2002, I moderated a small forum for patients with ALS/MND in the UK at King’s College Hospital to connect with one another, share tips and support, and to help our care center to serve them better. One area that remains controversial even to this day is clinical trials. ALS is a rapidly fatal and incurable illness, and as a young researcher I was often trying to field questions that patients had about the trials process:
“Why aren’t there more trials taking place?”
“Why do we have to have a placebo?”
“If researchers think commonly available treatments like dietary supplements or antibiotics might slow my disease, why can’t I just take them anyway rather than being enrolled in a trial?”
Given the severity of their situation and the slow pace of clinical trials (it’s estimated that it takes over 10 years for a new discovery to go from the lab to the clinic), I certainly sympathized with their frustrations and did my best to get the answers they needed, asking my medical colleagues where I could and translating the technical jargon. A few patients decided to go a step further than challenging the status quo, however, and took actions into their own hands. One patient taking part in a trial sent her medication off to a private lab to test whether or not she was on placebo, and several others took off-label experimental ALS treatments like creatine or minocycline. Some of them even went abroad to China for highly controversial stem cell treatments. In the end, none of these interventions were shown to slow the disease, but it certainly showed what was possible when a smart, dedicated, and adventurous group of patients could organize online.
Fast-forward more than ten years and we see a very different world, where patients have a growing voice in treatment approval, the design of patient reported outcome measures, and increasingly share their trial experiences through social media. That’s what inspired us to write our latest article just published in the British Medical Journal which details our experiences with how members of our community have replicated a clinical trial, have started sharing their data with leading researchers to debunk alternative “cures” for their disease, and have even started taking trials into their own hands. We feel these are symptoms of a greater underlying problem that has been with the design of clinical trials from the start – trials are all take and no give.
Patients take all the risk with their health, their time, their bodies, and in return they are supposed to temporarily suspend their instinctual curiosity to know more about their health status through self-monitoring or to interact with other patients who might be in a trial, all for the good of science and other patients. Modern technology up-ends that power dynamic though, and now it’s almost as easy for a patient to measure their health status with patient-reported outcomes, wearable devices, or even lab tests as it is for their doctor. In that case, can we really say patients are truly blinded anymore? The double-blind placebo-controlled randomized controlled trial is a “gold standard” in medicine, but unless it adapts to the changing realities of the patient empowerment landscape, it will be inherently unsustainable.
That’s why our team is embarking on research this year to gain a new understanding of what patients want from trials and a new understanding of the social contract as patients want it written. Our hope is that we can bring them together with the scientific needs of researchers to conduct robust science. It won’t be easy, and it might not be popular with everyone, but it’s the best path we can see towards faster cures that respects the rights of patients to be partners, not just subjects.