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

photo courtesy of Audrey

photo courtesy of Audrey

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 mitochondrial disease for their youngest child. Over the summer, further testing came back revealing what type of disorder their son was affected by: a rare genetic metabolic condition, 3MGA type one.  Audrey had posted in our facebook group that she had just realized screening for this condition was available in other states but not in TEXAS.  So had her son been born in Oklahoma, for instance, he would have been screened for and most likely detected at birth for the disorder that he has, much sooner, resulting in treating the condition much sooner, as well. But because the state where he was born, Texas, does not screen for this disorder (although it is recommended that every baby in the United States be screened for it), Audrey’s son’s condition took nearly 4 years to deduce and begin treatment for. Here is her story, in her own words…

In Audrey’s Own Words…

When my youngest son was 4 months old, I noticed he didn’t smile and coo
for pictures or while playing.  As hurricane Ike came ashore..home days..no
work..no power..noticed a screaming, angry baby who would not stop. Also
noticed he wasn’t rolling to his left  shoulder.  Our pediatrician said I was
worked up for nothing…give him time..to stop comparing him to big
brother.  Big brother was early to achieve milestones and pedi said I was
overly worried.
Fast forward..walking looked like a child who has cerebral palsy. At 3yrs
old.. I decide I could handle the diagnosis of CP. August 2011..MRI with our neuro.  then the BIG meeting to discuss the result.
As our neuro. looked in the folder closed it..looked at us..opened his mouth..no words came out.  He tried again..”I don’t know where to start..”I said good news  bad news..with good news first. He said..well it is not a stroke or CP. It is delayed mylination..in the white matter..bilaterally symetrical.  We asked questions..he answered. We agreed to test for mitochondrial issues.

This hit home hard..as I, mom, work with children who have special needs. I am an O.T. and encounter the mitochondrial world ..2yrs into my professional work almost 13 years ago. Then July 26th, 2012..our neuro. called me himself with the news. 3MGA type 1…  rare mito / acidemia dx. We started sharing with friends and family..slowly. We are writing the letter for family further away.

Then I realize..this could be screened for with the newborn screening at birth.

However, unlike other states..our state..does NOT test newborns for 3MGA.


About Empowered Advocacy

www.EmpoweredAdvocacy.com Pediatric Patient Advocate
This entry was posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born and tagged , , , , . Bookmark the permalink.

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