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Tag: diagnosis

A total of 9 posts are filed under diagnosis
Girl, Three, Diagnosed With Coat’s Disease After Facebook Photo Shared
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… Continue Reading
GlobalGenes Physician Survey InfoGraphic FINAL
Accurate Diagnosis of Rare Diseases Remains Difficult Despite Strong Physician Interest
Research published in The Journal of Rare Disorders highlights the need for improved physician education and referral programs. Patients… Continue Reading
Newly Diagnosed with Williams Syndrome
Although your journey as a parent will be different than what you expected, rest assured that your journey will be equally as joyful and… Continue Reading
Helping Patient Understand: Williams Syndrome and Diagnosis
Williams syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7. A random genetic mutation (deletion of… Continue Reading
Jasey’s Journey: Ultra-Rare PACS1 Genetic Disease
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… Continue Reading
Raising Awareness in Spain for Idiopathic Pulmonary Haemosiderosis
Hello, I am Carmen,  My illness is Idiopathic Pulmonary Haemosiderosis, a disease of  the lung causing unknown pulmonary hemorrhaging.  I… Continue Reading
Coping When Tragedy Strikes
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… Continue Reading