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, […]
When parents have a baby or child with a serious diagnosis, there are many unknowns. One is the future—what will happen as my child grows up. Will his siblings resent all the attention I give him? Will he have friends? Will he have a place to belong? Will his life have meaning? Will I be […]
When I first discovered that I was pregnant with Savannah at just 8 weeks something immediately felt off. Having a child before I found myself questioning that I didn’t feel any clear signs or symptoms of pregnancy. I remember thinking that something might be wrong and that unfortunately my body may reject this unexpected and […]