Talking About Timeliness

I had the opportunity to talk to the Secretary's Discretional Advisory Committee on Heritable Disorders in Newborns and Children today in an effort to continue advocating for timely newborn screening and follow-up.  It was the most important two minutes of my day, probably my whole week.  Here are my remarks:

Thank you.  I’m here to share with you what timely screening and follow-up has meant to my family.

Our son was born on a Tuesday morning after a healthy and uneventful pregnancy.  We were discharged from the hospital on a Friday afternoon when he was three days old.  As far as we knew, he was a perfectly healthy little boy.  We received a call from our pediatrician later that evening as we were getting our son ready for bed telling us that his newborn screening was “off the charts” for MCADD.

It didn’t take us long to realize how fortunate we were to have received our son’s results so quickly, before he was allowed to sleep for too long and risk serious health consequences.  Thanks to his rapid newborn screening, we had information that was saving his life and it was as simple as setting an alarm, waking him up and feeding him.  If only every family were so lucky. 

Our story was included in the recent Milwaukee Journal-Sentinel feature on newborn screening.  We were a happy story amid the stories of too many other families who did not receive this life-saving information about their babies until it was too late. 

I urge this committee to fix these issues that are endangering babies across the country.  In particular, I am advocating for:

·         Improved education for hospitals about the dangers of batching samples,

·         Mandated use of courier services to ensure that samples make it to the labs in a timely and traceable manner even on weekends and holidays, and

·         Assistance for state laboratories to help them identify any technologies or resources that will allow them to process samples 7 days a week because babies are born each and every day and days matter.  

I’m proud to say that our son is now a happy, active 22-month old thanks to newborn screening.  We have cheered his first smiles, first steps, first words and every milestone has been celebrated with an extra measure of gratitude.  For although every child is a blessing and a joy beyond words, our son gives us a little extra reason to know we have been blessed. 

From the bottom of my heart, THANK YOU for all you have done to advance newborn screening.  Thank you for giving us the opportunity to know our son and for the knowledge to keep him healthy each and every day.  Newborn screening saves lives.  All families deserve a happy newborn screening story like ours and the action of this committee to ensure timely screening and follow-up is crucial to achieving that goal.

Thank you for your time and consideration.