Guest Lecture

I have always been profoundly grateful for what newborn screening has given our family (the ability to know our son, the ability to see him grow up healthy and the information to keep him safe, among other things).  In many ways, I feel like I owe this enormous debt of gratitude back to the universe for the gift that LB has been to our family.  Whenever I am presented with an opportunity to help raise awareness about newborn screening or about MCADD, I always say yes.  It is my way of saying thank you to everyone throughout the years and from across the world who have brought newborn screening to the level it exists at today. 

Tonight was yet another joyful payment on that debt of gratitude.  I was given the opportunity to talk to a public health genetics class at the University of Colorado.  It is a graduate level class which has been looking at newborn screening from a systems perspective and I was asked to provide a family perspective on screening -- what I knew about screening before, what emotions I had when we were told our son had an abnormal screen, finding out his diagnosis, learning to live with MCADD and how it has affected our lives.  The quick answers to these questions are as follows:

• I knew nothing about newborn screening until we got the phone call saying our youngest son's screening was abnormal.  I didn't even realize our older son had been screened until the lab looked up his results from 2 years earlier and told us he was ok.
• I covered just about every emotion in the book in the first 24 hours after getting that phone call.  I was confused, scared, sad and grateful all at the same time.  I eventually landed on being grateful pretty much all the time. 
• Learning he had MCADD was not what we wanted to hear, but we have accepted that this is who he is and have embraced the opportunity to care for him because we are cognizant of the fact that families didn't used to be so lucky.  The information we gained through newborn screening saves his life each and every day because we know he needs to eat frequently and we have to be extra cautious when he is sick.
• Living with MCADD was pretty challenging in LB's first year mainly because everything is a little more challenging when you're running on so little sleep.  As he grew and required less frequent feedings and as he has started sleeping through the night, we're finding that our ability to cope with common stressors has greatly improved.  Sleep does a weary mommy's body good!
• MCADD has affected our lives in a mainly positive way.  Sure, we'd rather he didn't have it, but we can't change the fact that he does.  All we can do is follow his doctor's guidelines (which we've found aren't all that hard), love him like crazy and appreciate each and every day we get to spend with him. 

The students in the class were wonderful.  They asked great questions and I left feeling grateful for the opportunity to give them a glimpse of what families experience in newborn screening.  I hope that they will remember my presentation when they are contributing to and/or managing screening programs in the future.  In addition, I hope that they will continue to raise the bar for improving and expanding not only screening programs, but also the emotional support that these programs should provide to families traveling this road.