What does Newborn Screening have to do with Mitochondrial Disease?

Great Question! About a year ago as I was learning more and more about mitochondrial disease… I began asking myself, if Lady A’s symptoms were present since 2 weeks of age, is there (or was there) ANY way that we could have known or detected what was wrong EARLIER… or even at birth?

A while back, I joined an online support group that I found by googling “aspirin” and “metabolic disorders” (in an effort to figure out if Lady A’s salicylate sensitivity could be at all related). It was on the web page of this group, called Fatty Acid Oxidation Disorders Family Support Group, that I learned about Universal Newborn Screening. The founder of this group, Deb Gould, had lost a daughter to a disorder (MCAD) that WAS NOT screened for at birth, and has a healthy adult son (who has the same disorder that took his sister’s life), because of newborn screening.

Fatty Acid Oxidation Disorders are one type of Mitochondrial Diseases, in which the body is:

unable to oxidize (breakdown) fatty acids to make energy because an enzyme is either missing or not working correctly. The main source of energy for the body is a sugar called glucose. Normally when the glucose runs out, fat is broken down into energy. However, that energy is not readily available to children and adults with an FOD. (definition from http://www.fodsupport.org/list.htm)

And they are also ONE SUBCLASS OF MITOCHONDRIAL DISEASE that can be screened for and TREATED at BIRTH.

Currently there are 13 fatty acid oxidation/mitochondrial disorders that are recommended to be screened for by the US Government. But, sadly, each and every state does not screen for ALL these disorders.  What does this mean for you or a loved one or your friend who is expecting a baby? It means if your (or their) child is born in one state and has one of these 8 mito disorder at birth, it may not be screened for, or caught, and therefore your baby or child may suffer intellectual damages, physical and mental disability or even death, just based on the state in which they were born. Doesn’t sound fair, does it? I don’t think so either, but the reality is that it is happening EVERY SINGLE DAY, to babies across this country and in our own state as well. In Texas, only 5 of these fatty acid oxidation/mito disorders are being screened for, which means 8 fatty acid oxidation/Mito disorders are NOT being screened for and children with these disorders are being missed each and every day.

It was this connection with mito and this realization that sparked my interest in newborn screening and led to me applying to the Baby’s First Test Task Force. This summer after attending the mitochondrial disease conference, I contacted the United Mitochondrial Disease Foundation, and had a discussion with them about helping to spread the word about the mitochondrial disease and Newborn Screening . I am  grateful for their willingness to add a link to their website for newborn screening information. Thanks UMDF!

As we embark on Mitochondrial Disease Awareness Week 2012… My longterm ultimate hope is for a cure for this devastating, degenerative disorder, in the short-term, though, my passion is making sure there are NO babies or children mis-diagnosed or left un-diagnosed with mitochondrial disease, especially for the types of MITO where screening and testing are current available, yet ARE NOT being utilized in every state!

For more information on Newborn Screening, please see Babyfoodsteps Newborn Screening resource page here.

For more information about Mitochondrial Disease, please see Babyfoodsteps Mito resources page here.


About Empowered Advocacy

www.EmpoweredAdvocacy.com Pediatric Patient Advocate
This entry was posted in Advocacy, Baby's First Test, Medical, Mitochondrial Disease, Newborn Screening, UMDF and tagged , , , , , , , , . Bookmark the permalink.

7 Responses to What does Newborn Screening have to do with Mitochondrial Disease?

  1. Terry Vanek says:

    Great info. You are doing a wonderful job.

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