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, […]
Creatine Decoded: The power of patient registries and patient-led research initiatives – How CCDS Families and Caregivers Can Drive Research #CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, […]
The National Organization for Rare Disorders (NORD) recently hosted a webinar on the “Rare Sibling Experience.” As the mother of two children, one who is diagnosed with Creatine Transporter Deficiency (CTD) and one who is not, this resonated with me and I was very curious to hear from experts on the topic. Questions about how […]
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 […]
We are very fortunate in our state to have scholarships for children who qualify for an IEP but don’t attend public schools. This helps with funds for a visiting Intervention Specialist (special ed teacher) as well as home-based therapies. Sonnet’s health crisis has resolved greatly since she was diagnosed and began treatment for GAMT. However, […]
This essay was written by Laura Trutoiu, ACD Director of Research, with support from Erin Coller, ACD Director of Communications, and Sangeetha Iyer, ACD Scientific Advisor. #CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who, with the […]
It’s 3 AM and I can’t sleep. Again. I came across videos yesterday of Sam completing tasks for the learning program we were doing for a while (Relationship Development Intervention-RDI), and I was reminded, once again, how little we really engage with him now, how few activities he engages in. It bothers me.
This essay was written by Celeste Graham, ACD Director of Education, with the support of Sangeetha Iyer, ACD Scientific Advisor. #CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in […]
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