A Message of Hope by Peter Najm My name is Peter. I was born with a rare disease called KAT6A. The faculty of remembering is renewed every year. You erase many huge geographic references. You react recklessly because you realize that the real reason you forget is a gene mutation. The huge trigger of the […]
Sam inspired me to send you a description of his typical morning, in what I imagine would be his own words. I would call it… MORNING AT MY HOUSE, BY SAM WOODBURY Here he comes again, this time at an hour past midnight — Dad-with-flashlight. I coughed and the monitor picked it up. That woke […]
Ruby has been on my mind a lot lately. I mean, she’s always climbing on top of me, standing on my feet, yelling and crying, so it’s hard to NOT have her on my mind. It’s her diagnosis and everything that we’ve been through, the emotions, and the ability to keep my head out of […]
KAT6A Families, On March 1, 2018, Dr. Francis Collins, the Director of the National Institutes of Health (NIH) dedicated his blog posting to Dr. Valerie Arboleda’s research on KAT6A. This blog post provides great visibility for our community and the KAT6A Foundation, and is a very good summary of her research plan. https://directorsblog.nih.gov/…/creative-minds-looking-fo…/… I also […]
There are moments in life when you have to find yourself and you also find others. Being a teacher helps to make young people find themselves and others. With our project “Eleanor KAT6A: When Dreams Learn to Fly” we have discovered talents, awakened empathy and found common ground that connects together: family, friends, acquaintances and […]
Pol nació por cesárea en diciembre de 2008 en Tremp, un pueblo del prepirineo catalán de la provincia de Lleida (España). Solamente nacer los médicos se dieron cuenta de que alguna cosa no iba bien, tenía alguna malformación y no tenía el instinto de succión que tienen los bebes al nacer, y a consecuencia no […]
On February 3, 2018, the first KAT6A clinic was held in Baltimore, Maryland, at the Kennedy Krieger Institute. Nineteen families attended and several more followed the clinic by livestream. We were pleased to have in attendance and as speakers Jacqueline Harris, M.D., Ph.D., Pediatric Neurologist from the Kennedy Krieger Institute in Baltimore, Hans Thomas Bjornsson, […]
Chase is 3 years old and one of the happiest kids I know. He is the third youngest out of four kids and couldn’t love his siblings more. He is happy just to sit by his big brothers and watch them play video games 🙂 Chase’s story started November 1, 2014 when he was born […]
It’s a scene I’m very familiar with. The parents sit across from me, anxious and fidgety. Sometimes they cry, sometimes nervous giggles. Always fear. Confusion and concern for their child. As a psychiatric nurse, I know the parents are, by extension, secondary patients that I must also care for. I help calm them down as […]
Peter is a nine-year-old boy diagnosed with KAT6A. Despite being nonverbal he is literate and enjoys typing on his keyboard. Below you can read his personal blog. His blog entries are unedited and will be updated frequently. January 16, 2018 Hi kat6a parents, My name is Peter. I have many disabilities. I like to dance, […]