Category Archives: NRI

My journey from a patient to a scientist

I was living the life of luxury – chicken tenders were brought to me on call, buckets of toys were given to me daily and staying up until midnight was … Full Entry »

Posted in Neurology, Neuroscience, NRI Tagged , , ,

Why I am a passionate advocate for research in rare diseases

I am a mom of two young men, aged 18 and 16 years old. I am also the chair of the Research Support Committee of the Phelan-McDermid Syndrome Foundation (PMSF). … Full Entry »

Posted in Awareness, Neuroscience, Neurosurgery, NRI, Surgery Tagged , ,

How fruit flies and modern genomic technology helped to find a diagnosis for my daughter

My daughter, Bristol, is a cute and vivacious 5-year-old girl with sparkling brown eyes and bouncy curls who lights up a room. The first time we met Dr. Hsiao-Tuan Chao, … Full Entry »

Posted in Genetics, Neuroscience, News, NRI Tagged , , ,

Our long journey to a SON diagnosis

She feels invincible with her floaties on. I smiled as I thought of my beautiful 7 year-old daughter, Kylie, who enjoys swimming and started public school this fall. I am filled … Full Entry »

Posted in Neonatology, Neuroscience, NRI, Patient post Tagged , , , , ,


As the parent of a child with a rare disorder, you quickly realize there are a lot of ups and downs. Often, the lowest lows are when the “experts” tell … Full Entry »

Posted in NRI, Patient post Tagged , , , , , ,