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Rare Disease Resources
Foundation 

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Resources

The resources section offers key information on managing rare diseases, focusing on the importance of specialized care, professional collaboration, and ongoing education. Explore how dedicated centers and continuity of care can enhance patient outcomes and quality of life.

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Bridging The Knowledge Gap

Very few agree that pediatricians and GPs are aware and informed about rare disease. Even half perceive specialists as lacking in up-to- date knowledge and expertise. Consensus shows that extraordinarily little education time is provided or expected on understanding the daily challenges for those managing with rare disease. Feedback from specialists attending conferences on being asked how they are, how they are educating younger physicians on rare diseases, provides no satisfactory answer. A center with specialists of diverse backgrounds working on the same problem opens doors for collaboration and optimal results. Treating a patient with a rare disease goes beyond access to rare and expensive drugs. Rare disease centers would address a wide variety of gaps that exist in the diagnosis and treatment of rare diseases.

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Healthcare Navigation

On average, patients see 5.9 healthcare professionals before final diagnosis. Patients mentioned how a lack of awareness of rare diseases can also lead to doctors being dismissive and patients needing to consult many professionals. “If one of my doctors decides to move away and I must go find somebody else, I'm going to go through the same thing where you got doctors who either don't believe in it or don't understand it or don't care."

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Comprehensive Support

Informational continuity of care is critical in managing rare diseases. A rare disease center model will provide timely access to professionals in genetic testing, speech therapy, physiotherapy, behavior management and other quality of life services.

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Clinical Management

Clinical management of chronic rare diseases is a multi-faceted endeavor that requires collaboration across medical specialties. It incorporates case conferences, diagnostic evaluation and leads to pathways for therapeutic steps. Clinical solutions include innovative diagnostics, novel biomarkers, and prognostic models.

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Clinical Trials & Research

Limited knowledge about disease origin and variability affects optimal trial design. Uncertainty regarding clinically relevant endpoints hinders rare disease clinical trials. It is evident that personal engagement is critically important to holistic and accurate care, but great optimism lies ahead with the increased use of technology as a critical enabler in accelerating an improved continuity of care framework.

Additional Resources

Purchase Book

Available on Amazon

First Do No Harm

A Physician's Burnout and Mental Health Guidebook from Medical School to Retirement

Author

Katherine Twombley

Pages

176

Published:

January, 22 2024

Paperback

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Address

650 Enterprise Drive, Ste. 11204, Charleston, SC, 29492

Phone

803-727-0780

Email

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