Girl, Three, Diagnosed With Coat’s Disease After Facebook Photo Shared

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When Tara Taylor posted a photo of her daughter Rylee on Facebook, she thought the glow in the little girl’s left eye was just a reflection of the flash. However, Tara’s friends started to leave comments suggesting that Rylee get her eye checked just in case. Soon […]

Accurate Diagnosis of Rare Diseases Remains Difficult Despite Strong Physician Interest

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Research published in The Journal of Rare Disorders highlights the need for improved physician education and referral programs. Patients living with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis, according to a recent survey of patients, family members, physicians and […]

Newly Diagnosed with Williams Syndrome

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Although your journey as a parent will be different than what you expected, rest assured that your journey will be equally as joyful and wondrous. Before you begin reading about what to expect, we hope that you will find comfort in these words: “you are […]

Helping Patient Understand: Williams Syndrome and Diagnosis

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Williams syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder and is present at birth. This region […]

Jasey’s Journey: Ultra-Rare PACS1 Genetic Disease

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One can only imagine the joy and excitement that comes with the arrival of a new baby. We were no different from anyone else; we were extremely excited about the arrival of our little girl, Jasey. However, our joy and excitement was overshadowed by tears, […]

Raising Awareness in Spain for Idiopathic Pulmonary Haemosiderosis

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Hello, I am Carmen,  My illness is Idiopathic Pulmonary Haemosiderosis, a disease of  the lung causing unknown pulmonary hemorrhaging.  I am 47 years old and I live in Spain.  I was diagnosed with this illness in 1985 at 21 years of age, although I’ve had […]

Coping When Tragedy Strikes

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In a world of “How To, For Dummies”, WebMD, and the ease of Google search,  we are accustomed to finding fast solutions to problems we encounter.  With a quick search on You Tube, one can find tutorials on everything from “how to create perfect curls” […]