“Creating Capacity” – Janet When I was faced with the CTD diagnosis of my son, who is now 10, I felt a huge, monstrous, feeling of overwhelming and it never […]
“My AGAT Story” – Christina The Association for Creatine Deficiencies (ACD) recently interviewed Christina, a 17-year-old senior in high school, who was diagnosed with L-Arginine: Glycine Amidinotransferase (AGAT) deficiency as […]
“Share Your Rare” – Regina I had the recent pleasure of attending an event hosted by the Oklahoma Rare Action Network (RAN) Ambassadors, Tamra and Jade. Together with representatives from […]
“Jacob” – Lacy A phrase I hear quite often is, “I don’t know how you do it.” I don’t always know the correct response, so I usually just smile and […]
“IRONMAN Lake Placid Recap” – Jerry My fourth Ironman is in the books. Lake Placid, New York is a beautiful place and the trip was amazing. Beth and I chose this […]
“WHO’S GOING TO PROTECT HIM WHEN I’M GONE?” – Nancy Over-protective. Controlling. Helicopter Mom. Whatever you call it, that’s who I am. I’ve been this way since my first child […]
“Obtain, Maintain, Sustain” – Regina Immediately following Caiden’s birth, we knew he was facing many struggles. We had a lot to learn. We had a lot to help him overcome. […]
“Newborn Screening Presentation” – Kim Tuminello & Nicola Longo, MD PhD September is National Newborn Screening Awareness Month, and on that note, we would like to share with you the […]
“Getting Better” – Amy Ben’s recent Creatine Transporter Deficiency (CTD) diagnosis has hit me hard emotionally, so I thought that an honest account of these emotions could be cathartic. I […]
“What About Me?” – Kelly I’ve made no secret that our family life is somewhat different from the norm. Our home life is different as we live with 2 of […]