Newborn Screening Family Stories

Newborn Screening QuiltJust imagine if ALL babies across this country had been UNIVERSALLY, UNIFORMLY, and COMPREHENSIVELY tested as newborns what the FOD Cost Benefit Analysis data sheet (survey taken when expanded NBS was just getting started in mid-1990s) might look like—with alot LESS medical care dollar amounts and certainly ALOT LESS HEARTACHE! Why WAIT for a medical crisis to occur—let's get out there and Promote Expanded, Comprehensive and Universal Newborn Screening so ALL families, no matter what state (or country) they live in, can know right from the beginning what they and their child/children are dealing with!

With more states and countries mandating expanded newborn screening - in the US it is now mandated that each state screen for at least 29 disorders and some screen for 50+ - we still have more advocating to pursue before universal and comprehensive screening are achieved for every baby! However, we are hearing more Success stories with babies beginning treatment as early as possible ~ yet we still have some tragic stories from when ENBS was not offered ~ so please be aware of that when reading the NBS and Family Stories on our site.

Families in Canada (and other countries) are also becoming aware of the importance of expanding their Newborn Screening. One of our Families is trying to network with other Canadians affected by an FOD (or one of the other metabolic disorders that can be detected through tandem mass spectrometry). Brenda Porochnavy experienced the tragic death of her 3 week old daughter, Vayda, in 2006 because her LCHAD was NOT diagnosed at birth. She, like many of our Families that have gone through a similar experience, feels and KNOWS that NO FAMILY should have to have a child die! And if she lived in another province that was already screening using tandem mass spec, Vayda most likely would still be alive!

Unfortunately it's similar in some states in the US ~ it should NOT matter where you live ~ ALL babies should be screened as fully as possible AT BIRTH ~ and NOT through an autopsy! Medical Professionals also NEED to become aware of disorders like FODs in order to broaden their Differential Diagnoses skills (i.e. when a parent brings a child to the ER) so that they can move beyond the 'It's ONLY the flu' type of diagnosis! Too many of us have heard that before! If you would like to join forces with Brenda and get the word out about expanded AND universal NBS in Canada, please contact her directly ~ change IS possible because 'We Are All in This Together!'

[Please Note: Although all US states have already implemented various levels of mandated expanded screening (varies between 29 and 55+ disorders) mostly utilizing their own state Lab; while we wait for EACH state to add ALL the disorders that can be screened for at this time, MORE BABIES ARE NEEDLESSLY DYING! Unfortunately, politics and money are two of the biggest issues that are causing debate across many countries ~ and again, while these debates are going on in some states/countries ...delays in screening/testing AND early treatment or following Emergency protocol treatment are causing higher residual medical complications and for MANY families, death.]

EVERY family in this country, especially those that live in states that do not do the FULL expanded comprehensive screening, should be made aware that there are Labs around the country (listed on our NBS page, NBS & Diagnostic Labs) that are equipped to do this expanded screening and very experienced in interpreting the results ~ USE THEM ~ it may save your child's life!

Deb Lee Gould, Director, FOD Family Support Group

Abby TFP Bella VLCAD Christopher LCHAD Katlin CUD Kevin MCAD Landon VLCAD Luke LCHAD TFP Maggie VLCAD Maximo GA2 McKenna MCAD Sara MCAD Slayer MCAD
  • Abby TFP
  • Bella VLCAD
  • Christopher LCHAD
  • Katlin CUD
  • Kevin MCAD
  • Landon VLCAD
  • Luke LCHAD TFP
  • Maggie VLCAD
  • Maximo GA2
  • McKenna MCAD
  • Sara MCAD
  • Slayer MCAD