Tag 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 , ,

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 , , , , , ,

Now there are eight

It’s night and my wife and I are emotionally drained. The Tess webpage is live and it’s getting shared. While happy it’s gone viral, we’re reeling from how much mental … Full Entry »

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