Tag Archives: inborn errors of metabolism

A Consumer’s Reflections on #ACMGmtg 2014

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 , , , , , , , , , , , , | 1 Comment

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

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 , , , , | Leave a comment

What is Newborn Screening?

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

Posted in Baby Step, Baby's First Test, Medical, Mitochondrial Disease, Newborn Screening | Tagged | 18 Comments