More than 300 million people worldwide have a rare disease and experts say there may be more than 6,000 identified rare diseases.[1][2] More than 50 percent of rare diseases affect children and it takes an average of nearly five years to get diagnosed.[3]
Now a major effort is underway to speed up those diagnosis times.
The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (the Global Commission), comprised of Takeda, Microsoft and EURORDIS-Rare Diseases Europe, and working with technology innovators, patient advocates, health care providers, researchers, family members and other experts from around the world, has created a strategic alliance to address this diagnostic challenge for rare disease patients.
Difficulty in diagnosis
Here’s why it’s challenging to get rare diseases diagnosed: often patients, their families and doctors have limited awareness of rare diseases; rare disease symptoms aren’t always obvious to doctors and nurses who haven’t seen the disease before; and symptoms that may seem minor at first are often associated with common illnesses.
“Many of these children get the wrong diagnosis at least once, 40 percent of the time, at the beginning,” says Dr. Hartmann Wellhoefer, vice president of medical affairs, rare disease and internal medicine, and global research and development at the pharmaceutical company Takeda.[4] “If you get the wrong diagnosis, you’ll probably get the wrong treatment, get the wrong care. That might make things worse for a child.”
The sooner patients can get diagnosed, the sooner they can get the right treatments.
“These patients don’t have time to wait five years,” says Dr. Wellhoefer. “They need the right care now.”
Developing a roadmap
The Global Commission is developing an actionable roadmap to help shorten the time it takes to diagnose rare diseases. The goal is to help patients with rare diseases live longer, healthier lives.
“Working together to put rare diseases on the map is a health care priority equal to cancer or HIV or diabetes,” says Dr. Wellhoefer.
Those commission’s roadmap recommendations are as follows:
- Empowering patients and families by providing tools to connect seemingly unrelated symptoms; helping them ask the right questions and get the answers they need; and sharing their medical records — quickly, efficiently and securely — with multiple doctors and specialists to expedite diagnosis.
- Giving frontline providers like doctors and nurses the awareness and tools needed to quickly and effectively identify patients who may have a rare disease; helping them with next steps like using artificial intelligence to identify symptoms; and developing a platform for doctors to consult with genetic experts.
- Standardizing reporting methods, streamlining genetic consultations and utilizing telemedicine so medical geneticists can see more patients in general and work with priority patients more quickly.
Fostering community
Mike Porath’s now 12-year-old daughter Annabel was diagnosed with a rare disease, Dup15q Syndrome — a neurodevelopmental disorder, caused by the partial duplication of Chromosome 15 — when she was a toddler. Annabel is autistic and has cognitive delays.
Porath says a rare disease diagnosis can feel lonely and isolating for patients and families. He and his wife received support in an online group for other parents whose kids have Dup15q.
“Finding that community was so important for us,” says Porath, founder and CEO of TheMighty.com, a digital health community the couple started in 2014 for people facing health challenges and disabilities.
Porath, a committee member of the Global Commission, knows the patient and family perspective on rare diseases.
“We want to provide a playbook for parents so the right questions get asked and you get on a path to getting diagnosed much faster,” he says.
He knows the importance of a proper diagnosis, explaining, “Once you have a diagnosis, you can create a plan.”
[1] RARE Facts. Global Genes. https://globalgenes.org/rare-facts/. Accessed February 6, 2019.
[2] Orphan Medicines in the EU. European Medicines Agency. http://www.ema.europa.eu/docs/en_GB/document_library/Leaflet/2017/12/WC500240710.pdf
[3] The Global Challenge of Rare Disease Diagnosis. Shire. https://www.shire.com/-/media/shire/shireglobal/shirecom/pdffiles/patient/shire-diagnosis-initiative-pag-leaflet.pdf
[4] Rare Disease Epidemiology: Update and Overview. Posada de la Paz M et al eds. Advances in Experimental Medicine and Biology. 1031. 2017.