What is Newborn Screening?

photo credit: Enlightened Photography

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 changed in the last year!

Newborn Screening in simplest terms is:

the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth.

Many of these are metabolic disorders (often called “inborn errors of metabolism”) that interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other disorders that screening can detect include problems with hormones or the blood.  (from Kids Health)

I began this journey of learning more about newborn screening, when our daughter was first suspected of having a mitochondrial disorder. As I researched and read and googled…I realized mitochondrial disorders were part of a larger grouping of disorders called metabolic disorders and that there were some of these metabolic disorders that CAN be screened for at BIRTH (inborn errors of metabolism)… and even some Mitochondrial disorders (fatty acid oxidation disorders) that can be screened for at BIRTH…

but here is the SHOCKER… are you sitting down?

It depends on WHERE your child is BORN…as to whether your little one will be screened for one of these disorders.  It is possible that your child could be born in TEXAS with a type of mitochondrial disorder (for instance SCAD, a fatty acid oxidation disorder) and  NOT BE SCREENED at birth for this disorder BUT if you give birth to your bundle of  joy in NEW MEXICO (one state away) your baby would have been screened for SCAD along with 9 more mitochondrial/fatty acid oxidation disorders (TX screens for a total of only 5 Mito/ FOD’s).  Sooo this testing may nor really mean much to you if your child doesn’t have SCAD, but if you are the parents of that baby that DOES have it and it is not caught at birth, it can lead to breathing problems, seizures and coma leading to death. And that is just not FAIR… if you are that parent, and especially not fair if you are that sweet baby who may suffer from a treatable condition.

If you want to know what your state tests for click HERE.

One other tidbit of info that I learned during this quest for more information about new born screening…is that even if your state does not screen for all the disorders recommended at a NATIONAL LEVEL (you can see that list here), THERE ARE RESOURCES AVAILABLE to have your baby screened for the other disorders…

FOR $35

Yes, $35 to find out if your baby has a life threatening genetic disorder…a disorder, that if left undetected, can cause irreversible neurologic damage including mental retardation or even death…  a disorder, that if detected, and given dietary and nutritional interventions soon enough and early enough… then your baby can live a healthy, happy life. Here is where you can order a kit for yourself or a pregnant friend or family member: Baylor Medical Center Institute of Metabolic Disease CALL this number  214-820-4533 to request your kit, TODAY.

You take this kit to your pediatrician to coordinate screening once your baby is born and then you mail it along with a check for $35 to Baylor and you should have results within a week. There are other metabolic disorders out there, more than 500 of them, but screening for 50+ of the most treatable known and measurable disorders is a baby step in the right direction. For another option you can look into this kit from PERKIN ELMER for $199.

Individually these disorders are RARE, but combined they can really add up to be quite common , collectively and devastating if not caught early enough~ a number of SIDS deaths may be undiagnosed metabolic disorders.

Each year, over 5,000 babies are born with one of the conditions included in state newborn screening panels. Most of these infants appear perfectly healthy at birth and come from families with no history of the disorder. Unfortunately, once symptoms appear, they are often irreversible, leading to severe health and developmental problems or even death. Every baby born in the United States is required by law to undergo newborn screening prior to leaving the hospital because it is the only way to tell if a seemingly healthy infant has one of these rare, but serious, conditions. Most affected babies identified through newborn screening who receive treatment early grow up healthy with normal development. (from Baby’s First Test)

These are just a few of the reasons I decided to apply for a grant and a position on the consumer task force for Baby’s First Test. In December, I got the exciting news that I was chosen as a member of this task force and would have the opportunity to learn more about newborn screening and participate in an awareness project to help promote NEW BORN SCREENING. You can read more about some of the amazing people I get to learn from this year who are my associates on the task force:  http://www.babysfirsttest.org/consumer-task-force

We still do not know for sure if our daughter’s condition could have been detected at birth and we will not know until we have a more firm diagnosis about what type of mitochondrial disorder she has (or if there is another underlying genetic condition going on), none the less, I will continue to advocate for her and for other babies and parents so that hopefully they will not have to walk the winding, confusing, and sometimes lonely path of knowing in your heart something is not OK with your baby, but not knowing what.


About Empowered Advocacy

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

18 Responses to What is Newborn Screening?

  1. Jennifer Allen says:

    Wonderful job, Kristi! I’m going to share this!

    • Baby(food)Steps says:

      thanks Jennifer! I was thinking of you and your little miracle while I wrote it! I plan to write more about newborn screening as I learn more…this was just an intro one…
      maybe I can interview you and your son for a post! 🙂

  2. Ginger DeShaney says:

    Kristi, congratulations on becoming a task force member! That’s so exciting. I know you will do great things with that group. Thank you for this educational and powerful post.

    • Baby(food)Steps says:

      Thank you so much Ginger for your support! I am excited about the opportunities to continue to bring awareness to the mito world.

  3. luvmy4kids says:

    Thanks for writing about newborn screening

  4. luvmy4kids says:

    Thanks! Did you ever hear of Save Babies Through Screening Foundation? They helped me get a kit to get all the newborn screening tests done. I learned that Baylor does not screen for everything in their kits but it is cheaper! Save Babies gives the screening kits to families for free which I thought was great because they are all volunteers and just work from donations. They told me if I got the kit from Baylor I should check to see if I was getting all of the screening that my state wasn’t doing and they would help me figure it out. I am very grateful for newborn screening and I learned alot from their video because I didnt understand about it before.

  5. Kathy says:

    Great article Kristi! Newborn screening has been a passion of mine since I first advocated for adding organic acidemia disorders about 10 year ago…The Baby’s First Test site has a lot of great information! Thanks again for sharing the awareness.

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  7. Gerilen says:

    moms should share information about NBS to other moms. some refuse to let their babes undergo NBS for fear of harming the baby..
    great post 🙂

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