Getting a diagnosis is just the first of many challenges patients with rare diseases – and their caregivers – face.
“We went through a number of specialists until we found a team that finally looked at my daughter, Hannah, as a patient with unique needs,” says Carrie Ostrea of Las Vegas, Nev. “The process was filled with huge financial challenges. My husband was laid off from his job of five years and we had to continue to pay for insurance just so Hannah could continue getting treatments. The isolation was also incredibly difficult. Some of our family even stayed away from us because they couldn’t handle the situation of us having a child with a rare illness.”
Hannah Ostrea was diagnosed with Gaucher Disease type 2/3, a fatal rare genetic disorder characterized by brainstem dysfunction, loss of primitive functions such as breathing and swallowing, low blood platelets, and enlargement of the liver and spleen. She passed away at age three.
Carrie Ostrea is just one of the 350 million people worldwide who are affected by rare diseases. While Carrie’s experience caring for her daughter – from diagnosis to treatment – was unique, the challenges she faced resonate with many patients and caregivers facing a rare disease. Specific challenges and new insights are featured in a first-of-its-kind Rare Disease Impact Report, commissioned by Shire Human Genetic Therapies. This Impact Report identifies and quantifies the health, psycho-social, and economic impacts of rare diseases on patients, families, and the medical community.
According to more than 1,000 survey responses from patients, caregivers, physicians, and payors who handle reimbursements for healthcare plans and governments/institutions in the United States and United Kingdom:
* It takes more than seven years in the U.S. and five years in the U.K. for a patient with a rare disease to receive a proper diagnosis
* On the journey to diagnosis, a patient typically visits up to eight physicians (four primary care and four specialists) and receives two to three misdiagnoses
* Physicians (both primary care and specialists) often don’t have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases seen
* Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients and their caregivers
Rare diseases are conditions that affect a small portion of the population, but are often chronic, progressive, degenerative, life-threatening and disabling. While individual rare diseases are uncommon and disparate, collectively there are about 7,000 different types of rare diseases and disorders that have been identified.
“The new insights featured in the Rare Disease Impact Report reinforce some of the major issues we see in the rare disease space, particularly the obstacles in getting adequate information and ongoing care,” says Nicole Boice, founder and CEO of Global Genes | RARE Project, and advisory board member for the Rare Disease Impact Report. “My hope is that these gaps identified in the report inspire the rare disease community to work together to create a better outlook for patients and their families.”
Visit www.RareDiseaseImpact.com to get more information and view the full Impact Report.