In 2022, I visited a full CCDS symposium for the first time. With both my background in neuroscience and my little brother being a CTD patient, I wrote a guide that explained all aspects of CTD in such a way that families without medical or scientific backgrounds could follow. Continue reading
When I volunteered for the PaReNts project back in April, I really wanted to be able to attend the ACD Conference. Continue reading
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, SPD, ID, ASD. But for me nothing really explained what was happening to our little man. It is easy to look back with hindsight and see the times we were dismissed by doctors, despite the red flags. We were close several times to maybe heading down the right path, but a doctor didn’t want to see us as a patient (our urine sample was elevated but not out of the realm of normal) or I was told we should just wait and see how he develops (only to also be told the early years are the most important for intervention, sigh). Continue reading
I think most parents of children with Creatine Transporter Deficiency (CTD), like me, are painfully aware of the statement, “CTD is not treatable.” The day of my son Cadman’s diagnosis (he’s now 6, and was diagnosed just before his second birthday through whole exome genetic testing), there was a slight sense of relief that we finally had an answer and our diagnostic journey had come to an end, but devastation to find out that there is no treatment available for his disorder. Continue reading
I recently joined the ACD as the new Programs Coordinator, and as part of my orientation experience, I had the amazing opportunity to participate in the 2020 Global Genes LIVE virtual conference. This event was not only educational but incredibly inspirational. I learned so much and came away from the experience with a greater understanding of why we do what we do at ACD. I would love to share some of my highlights and takeaways with you!
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If you’ve ever wondered how to get involved with advocacy at the ACD and what I’ve been learning from attending conferences, continue reading! Continue reading
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 the National Organization for Rare Disorders (NORD), Michelle and Rose, they offered an opportunity to engage with staff from Congressman Markwayne Mullins office. Though the Congressman himself was unable to attend, the opportunity to take advantage of his staff member, Josh, being present was very productive in the effort to spread awareness of topics that impact the rare disease community. Continue reading
The Society for Inherited Metabolic Disorders (SIMD) holds a 3-day meeting every year to discuss and share ideas about metabolic disorders. This year, the meeting included a satellite session on Cerebral Creatine Deficiency Syndromes, hosted by the Association for Creatine Deficiencies. Our ACD team was represented by the irrepressible dynamic duo Heidi Wallis and Laura Trutoiu. Continue reading
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. Continue reading
When it was decided to do the first ACD Scientific Symposium and Family Conference in Austin, TX 2018, the idea that so many of us would be all together for the first time, brought on a lot of hopes for a successful conference. The idea that we would have the world’s leading experts in creatine deficiencies, communicating in the same room, and then to be surrounded by CCDS parents and their children that I feel like I’ve known for years, and yet had never met, was incredibly special. We were all excited. This was going to be an amazing opportunity. What could we do with this meeting to really capture it? After all, we thought that we may not have another opportunity like this for years. The answer was clear: A video! Continue reading
