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Posted April 14, 2013 by James Rhodes in Community
 
 

Rare Disease Impact Report quantifies patient and caregiver challenges on journey to diagnosis and beyond



Receiving a diagnosis is just the initial of numerous challenges sufferers with rare diseases &ndash and their caregivers &ndash face.

&ldquoWe went by way of a number of specialists till we discovered a team that finally looked at my daughter, Hannah, as a patient with exclusive needs,&rdquo says Carrie Ostrea of Las Vegas, Nev. &ldquoThe process was filled with massive economic challenges. My husband was laid off from his job of 5 years and we had to continue to pay for insurance coverage just so Hannah could continue getting treatments. The isolation was also extremely difficult. Some of our family members even stayed away from us since they couldn’t manage the situation of us obtaining a kid with a rare illness.&rdquo

Hannah Ostrea was diagnosed with Gaucher Illness type two/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 3.

Carrie Ostrea is just one particular of the 350 million people worldwide who are affected by uncommon illnesses. While Carrie&rsquos knowledge caring for her daughter &ndash from diagnosis to treatment &ndash was special, the challenges she faced resonate with many individuals and caregivers facing a rare disease. Specific challenges and new insights are featured in a first-of-its-sort Rare Disease Impact Report, commissioned by Shire Human Genetic Therapies. This Influence Report identifies and quantifies the health, psycho-social, and economic impacts of uncommon diseases on sufferers, families, and the health-related community.

According to far more than 1,000 survey responses from sufferers, caregivers, physicians, and payors who handle reimbursements for healthcare plans and governments/institutions in the United States and United Kingdom:

* It takes far more than seven years in the U.S. and five years in the U.K. for a patient with a rare illness to get a correct diagnosis

* On the journey to diagnosis, a patient typically visits up to eight physicians (four principal care and four specialists) and receives two to three misdiagnoses

* Physicians (both principal care and specialists) usually do not have the time, sources and information to correctly diagnose/handle individuals with rare diseases, compared to much more widespread illnesses observed

* Due to the uncertainty, the lack of obtainable info, sources, and economic strains, rare diseases take a significant emotional toll on patients and their caregivers

Rare ailments are circumstances that impact a tiny portion of the population, but are usually chronic, progressive, degenerative, life-threatening and disabling. Whilst person uncommon ailments are uncommon and disparate, collectively there are about 7,000 different varieties of rare illnesses and issues that have been identified.

&ldquoThe new insights featured in the Uncommon Disease Influence Report reinforce some of the key concerns we see in the rare illness space, especially the obstacles in getting sufficient data and ongoing care,&rdquo says Nicole Boice, founder and CEO of Global Genes | Uncommon Project, and advisory board member for the Uncommon Disease Influence Report. &ldquoMy hope is that these gaps identified in the report inspire the rare illness community to perform collectively to develop a greater outlook for individuals and their households.&rdquo

Go to www.RareDiseaseImpact.com to get much more details and view the complete Influence Report.

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James Rhodes

 
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