ACD

11Nov 2019

When I was faced with the CTD diagnosis of my son, who is now 10, I felt a huge, monstrous, feeling of overwhelming and it never went away. None of this is his fault, but the responsibility, the volume of things that needed to be taught, the learning, the management of appointments, the therapy, medication, and paperwork was a lot to handle and it ultimately fell on my lap as his primary caregiver. Continue reading

24Sep 2019

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 Screening Awareness Month. Continue reading

13Sep 2019

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

21Aug 2019

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 himself to the ground in a temper tantrum? Are they seeing him frustrated when he can’t communicate his needs? Are they seeing me as a frustrated mom trying to do my best with the situation? Are they seeing him as a happy child? I see all of these things.  Continue reading

07Aug 2019

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 there. Continue reading

15Jul 2019

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! Continue reading

10Jul 2019

The Association for Creatine Deficiencies is excited to partner with Coriell, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes. We need your help as a community to donate cell samples to enable research! Continue reading

07Jul 2019

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. Continue reading

30Jun 2019

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