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.
“School closed,” says Sam for the 14th time today. I take a deep breath. If I don’t answer him, he’ll just keep going.
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.
Pictured: Dr. Sonja Sucic from the Medical University of Vienna presenting on pharmacochaperoning at the Creatine Deficiency Workshop in Rotterdam in September 2019 Being a CCDS/CTD mom, I understand that it can be very easy to put a huge amount of hope in the idea of prospective treatments. The exciting news is that it’s not just a cliché […]
I recently had the privilege of sharing my family’s GAMT story with a group of professionals from ARUP Laboratories.
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!
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 […]
I know I’m one of the lucky ones. We still have our son. There was a moment in time where I seriously considered giving up custody of my precious baby boy, my third child. Sam is 21. He has CTD and therefore, Autism, Epilepsy, Sensory Processing Disorder, food sensitivities, ah… you know the list.
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 […]
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