“#MyGivingStory” – Chuck This story was shared with #MyGivingStory in connection with the Giving Tuesday initiative. #MyGivingStory shares the stories of everyday heroes giving their time and talents to the […]
“A Deeper Understanding of CCDS” – Sarah Young, PhD, FACMG Did you know the Association for Creatine Deficiencies has an amazing patient registry? For rare diseases, patient registries are critical […]
“Hook ‘em Horns” – Laura I know those who attended the conference in Texas this summer will all agree that is was fabulous. It was so great getting to meet […]
“Family Vacation” – Shelly We just had our first big family vacation. Overall it really was great, we had good strong family moments, Lilah got to chase seagulls, Tyler got […]
“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 […]
“Life With CTD” – Chelsi Hello, my name is Chelsi and I have CTD. 23 years have come and gone before I even knew about this condition. If it wasn’t […]
“Special Education” – Celeste Wow! I’m still processing all of the things I learned from the 2018 conference in Austin. The CCDS Symposium was incredible! For me, the information was […]
“It’s so Austin…” – Shelly “It’s so Austin…” I heard that sentence a lot the weekend of July 27-29. I inferred it to mean several different things- odd, wacky, unique. […]
“Enriching Her Life With Therapies” – Randi Since Sonnet wasn’t diagnosed with GAMT until she was seven-years-old, she is severely affected developmentally in every way. We found that with treatment […]
“Summer!” – Laura Summer is the most coveted time of the year around our house… AND IT’S HERE!!! Both boys have birthdays in the summer, the weather is perfect for […]