Tag Archives: Creatine Transporter Deficiency

Creatine Decoded: ACD-Funded CTD Drug Repurposing Fellowships Make Progress in Year One Patient Samples from Coriell Biobank in Studies Seeking to Understand CTD Mutations & Explore Existing FDA-Approved Drugs as Potential Treatments #CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews […]

By way of background, I am new to the CCDS community. Our 8-year-old son was diagnosed with CTD on 1 April 2021. Yes, April Fools Day, almost appropriate given the various false starts we had on the diagnosis path. Up until that day in April, plenty of letters had been thrown our way – GDD, […]

I had just poured myself a cup of coffee and settled in for the 2-hour Ultragenyx Study, feeling I might have something to offer having been in the CTD world for 20 years, when the second question knocked the wind out of me: What is your greatest fear for the future? It happens every time […]

Most of the country has been on hold for a few months due to the COVID-19 virus. Even now, with the country reopening, our family is only going to required doctor appointments.

My son recently said my name for the first time. I don’t mean he called me Mommy. He says that about a hundred times a day, even when he gets a response. He said my actual name.

When it became clear that I would be caring for my son into his adult life, I knew that I had to make sure my body and mind would be ready for that. I knew I had to be as strong and durable as possible.

The following is our journey into using Medical Marijuana (MMJ) with our son who has CTD, autism, and epilepsy. For those of us in OH, this is a new option in the treatment of seizures and most of us have little to no experience in the medical use of this product. In talking with other […]

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 […]

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!