Emily S.’s Story – This is our Emily

Emily S.Written by: Tina, Emily’s Mom

Emily is a sweet and determined seventeen-year-old girl, who has a passion for life and all it has to offer.  However, Emily had a rough start to her life having delayed milestones and medical setbacks.  She was in and out of hospitals the first five years of her life, she had pneumonia several times due to swallowing issues, asthma attacks, and high fevers.  Her symptoms and development often puzzled her doctors.  They have misdiagnosed her with cerebral palsy, dystonia and Parkinson’s based on her symptoms, but I never felt at peace with these diagnoses.  Finally, after participating in the Undiagnosed Disease Network at Massachusetts General Hospital in April 2017, we finally had a diagnosis of Epileptic Encephalopathy GNAO1.  However, at this time Emily has not experienced any Epileptic seizures unlike some of the other patients.

Although it is comforting now having a diagnosis and families to reach out to and use as resources, we still struggle with what to do next.  Emily’s future is so uncertain and scary. We pray every day for more research and the knowledge to make the best decisions for Emily.  We are currently awaiting a service dog for her to provide her with comfort, confidence and companionship.  She can’t wait to add her dog to our family.

This is our Emily!

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