Tag Archives: inborn errors of metabolism

A Consumer’s Reflections on #ACMGmtg 2014

Posted on April 22, 2014 by Empowered Advocacy

Recently, I had the opportunity to attend the American College of Genetics and Genomics meeting in Nashville, Tennessee. This opportunity was made available to me through a travel grant application I submitted through the regional genetics collaborative that I have … Continue reading →

Posted in Advocacy, Autism, Baby's First Test, Genetics, Medical, Mitochondrial Disease, Newborn Screening, Research | Tagged #ACMGmtg 2014, ACMG, epigenetics, epigenome, genes, genetics, inborn errors of metabolism, Medical Genetics, newbornscreening, NYMAC, penetrance, syndromes, undiagnosed diseases | 1 Comment

Texas Born: Newborn Screening in the Lone Star State: 3MGA type 1

Posted on September 28, 2012 by Empowered Advocacy

I had the pleasure of meeting Audrey and her 2 adorable son’s a few months ago when we held a Mitochondriya’ll social/fundraiser at Sweet Tomatoes for Mitoaction.org. At that time, Audrey had found my blog because her neurologist was suspecting … Continue reading →

Posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born | Tagged 3MGA, inborn errors of metabolism, metabolic disorder, newborn screening, organic acidemia | Leave a comment

What is Newborn Screening?

Posted on March 7, 2012 by Empowered Advocacy

It wasn’t long ago that I thought Newborn Screening was just a test that screened for one disorder with a prick and a drop or two of blood on a newborn baby’s heel. Wow, has my view of this test … Continue reading →