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 went away. None of this is his fault, but the responsibility, the volume of things that needed to be taught, the learning, the management of appointments, the therapy, medication, […]
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 an infant to share her story in regards to her diagnosis, why advocacy is important to her, what her hopes are for the future, and more, in honor of Newborn […]
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 take it as the compliment I think they intend it to be. I am not sure what they are seeing from their perspective. Are they seeing Jacob throwing […]
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 location because not only could I participate in the Ironman event, but we were celebrating our 20th wedding anniversary and the venue did not disappoint! We won’t soon forget our time […]
Hello again, friends! I know it has been a while since I have updated everyone on what’s going on in our daily lives. Well, I will be the first to say, things have been a bit hectic this summer, but the craziness is welcome and we love the way that our lives are evolving!
When your child is different, there are a lot of worries. We worry about their health; their education; and their safety. But we also worry whether they’ll have something that most of us take for granted. A friend. A real, honest-to-goodness friend. Someone they can relate to, who likes to be in their company, and […]
Kim Tuminello, Director of Advocacy for ACD, recently sat down with Dr. Ruben Bonilla Guerrero, who is the Medical Director of Medical Affairs for Admera Health, to talk about his professional background, his current position, and how pharmacogenomics (PGx) could possibly help the CCDS community.
Standing in front of my kitchen sink in the cold, blue, January dawn, I run the warm water to wipe off my son’s face before he heads off to high school. The washcloth steams visibly in the frigid morning air as I carefully wipe off Benny’s face, getting off any traces of breakfast or sleepy […]
Over-protective. Controlling. Helicopter Mom. Whatever you call it, that’s who I am. I’ve been this way since my first child was born in 1991. If I could have wrapped all three of my children in bubble wrap and locked them in the basement until they were 30, I would have. And yet, I haven’t been […]
Watching the videos that are posted from the conference brings back the excitement and all the feels from being at the Symposium, surrounded by a community of families, kiddos, medical professionals, researchers, and pharma companies with one thing in common: a vested interest in Cerebral Creatine Deficiency Syndromes.
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