We hope you’ll join us in continuing to work on diagnosis throughout the year.
You have probably heard the statistics before. There are 7,000 rare diseases. More than 80% are genetic. Half of those affected by rare diseases are children.But we don’t always stop to think about the human cost behind those statistics. Consider the number of years it takes for rare disease patients to get a correct diagnosis. According to the Shire Rare Disease Impact Report, it takes 7.6 years with 2-3 misdiagnoses and an average of 8 physician visits along the way.
Think about what it would be like to be a parent, taking your child from specialist to specialist for more than 7 years, scouring the internet looking for clues, combing through medical articles, hoping that there is a treatment somewhere that can help your child. As a rare disease caregiver, I know something about what this journey is like; the pressure you feel to find an answer, and how alone and frustrated you can feel.
We chose to make rare disease diagnosis our focus at Siren this year because improving speed to diagnosis has the potential to make profound improvements in rare disease patients’ quality of life—especially when those patients are children. Time lost searching for the correct diagnosis for a child can mean developmental delays that could have been avoided. Both adults and children can suffer organ damage and even death due to delayed diagnosis. Those who are misdiagnosed may receive inappropriate treatments and surgeries that can actually harm them rather than improve their health.
As we succeed in developing groundbreaking new treatments for rare diseases, it’s critically important that we also work to improve diagnosis so those treatments can be put to good use.
Improving diagnosis is a challenge that we can all do something about. Here are some ways you can help.
Share the Facts
As part of our year-long focus on speeding rare disease diagnosis, we created an infographic, Journey into the Unknown: The Search for Rare Diagnosis, which presents the facts in a compelling way that makes it easy for you to educate your family, friends, healthcare professionals, and fellow patients. You can also spread the word by sharing Bridging the Knowledge Gap on Rare Disease, an infographic that is based on a recent survey conducted by Global Genes on the social impact of rare diseases.
Support Organizations That Are Working to Speed Diagnosis
The National Organization for Rare Disorders (NORD) is developing a series of disease-specific physician guides. Global Genes recently enhanced their offerings to help undiagnosed patients by partnering with Syndromes Without A Name (SWAN USA) to offer free clinical genomic sequencing testing to rare disease patients who cannot afford costly tests. The National Institutes of Health (NIH) are preparing to expand their Undiagnosed Diseases Program with an expanded network of sites at teaching hospitals around the country. All of these organizations will make progress faster with your support.
Create Campaigns to Build Awareness
One of the reasons there is a diagnosis gap in rare diseases is that most doctors seldom encounter them. There is a need for both patient organizations and pharmaceutical companies to play a role in the ongoing task of educating physicians and patients on the signs and symptoms and helping families connect the dots around genetic conditions. As a relationship marketing agency for rare diseases, we’ve helped many of our clients create online initiatives that help achieve these goals.
Be an Advocate for New Initiatives
Heather Long, a founder of the organization U.R. Our Hope is working to pass legislation that would provide funding for the NIH to create a program combining the elements of a patient registry with a professional and social networking site. The network would allow physicians with undiagnosed cases to register them and perform a match against others in the system. The CAL Undiagnosed Diseases Research and Collaboration Network Act of 2013, was created in memory of Long’s son who died without a diagnosis. By lending our support to legislation like this, and working to create more centers of excellence for rare diseases, we can increase the chance of early diagnosis and improved outcomes.
Think Outside the Box
As a digital agency, we have a deep interest in how new technologies can be used to solve the complex problems inherent in rare disease diagnosis. Siren Interactive will be partnering with the author and geneticist, Sharon Moalem, MD, PhD, and the Global Genes Project to create a rare disease track at Healthcare’s Grand H@ckfest with H@cking Medicine at MIT on March 14-16. The hackathon is the final push that will follow more than 7 years of research and investments by Dr. Moalem to develop a no-cost facial recognition screening tool for genetic and congenital disorders that leverages technology developed for the security industry.
Search engines like FindZebra offer another new frontier to explore that may help physicians improve their success rate for rare disease diagnosis.
There has never been so much support from so many different stakeholders in the rare disease community to help improve diagnosis. It’s one of the things we can celebrate on Rare Disease Day 2014. We hope you’ll join us in continuing to work on diagnosis throughout the year.