I'm back on the fundraising trail this year, raising money to support the Association for Creatine Deficiencies (ACD). Supporting this organization has become part of our lives. The mission is "to provide patient, family, and public education, to advocate for early diagnoses, and to promote and fund medical research for treatments and cures for Cerebral Creatine Deficiency Syndromes (CCDS)." More can be found at www.creatineinfo.org
Our diagnosis day was December 11, 2009. Our son Benjamin, 6 weeks before his 6th birthday, was diagnosed with GAMT, one of the three creatine deficiency syndromes. And so was our youngest daughter, Celia, just shy of 14 months old. At the time, we were told that there were less than 100 diagnoses of the disorder. GLOBALLY. And now, 9 years later, our family is an example of how early screening and diagnosis can completely change a child’s future. For a little more about our personal journey, read my wife's recent ACD blog post here: https://creatineinfo.org/paradox/
The focus this year is raising money to further fund advocacy for newborn screening. Our disorder, GAMT, is a perfect example of what should be tested for in every newborn, because it is treatable, and if detected early, an affected child can live a normal life like our daughter, free of the drastic results that our son and others have experienced. My wife, Beth, has been leading the advocacy charge, presenting our story to the Dept of Health and Human Services Newborn Screening committe in Missouri, chasing the same in Illinois and other midwestern states, and working with state legislators to make the addition of GAMT to newborn screening testing a reality in as many states as possible, until it becomes universally accepted. You can see more about the importance of screening in the video here: https://www.youtube.com/watch?v=1VbJUHWhOqs&feature=youtu.be
SInce my last effort to raise funds, the organization has made great strides in advocacy. Several states have since committed to pilot programs to test the newborn screening protocol, a key step to getting full newborn screening commitment. ACD also hosted its first-ever Symposium, bringing together affected families, doctors, and researchers from around the world to meet and share crucial information about treatment protocols. Because of the rarity of the creatine defiiciency syndromes, this was the first time many of us had ever met another affected family in person.
For my part, I'll be wearing the ACD colors and making my way around 2 Ironman triathlon courses this year. The first one in Lake Placid, NY in July, and then again in Louisville, KY in October. It's a big task, but so small when compared the real mission at hand, which is saving the lives of children through advocacy and action. I hope you can help me so that we can continue to work for universal creatine screenings!