Newborn screening: the importance of communication

As some of you know, I am part of a workforce group under Baby's First Test that was formed to help educate parents and spread awareness of newborn screening by sharing our personal stories. The following story is from a fellow workforce member, Chantel, who tells us about her newborn screening experience with her son Christian.

When you think of newborn screening, what comes to mind? Well, I realize that it just depends on what perspective you look at it from. I am both a parent of child that had an inconclusive diagnosis from the newborn screen, which later was determined positive, and the perspective of a neonatal critical care nurse that must obtain the newborn screen according the state policies of Delaware. 
  My son was diagnosed with Cystic Fibrosis at two months of age, starting with the newborn screen. We then did a sweat test at a major medical center and DNA samples to confirm the diagnosis. Once the diagnosis was made, I had to ask and seek out more education about resources available. I don't recall from my experience that my OB reviewed this with me at all, neither did my sons pediatrician.
 As a matter of fact when my son was born the hospital policy was to do the newborn screen prior to discharge and preferably in the first 48hrs of life. Well, he was being discharged without his screening being done. We were ready to leave the hospital when I noticed it wasn't completed, questioned the nurse about it, and they quickly took him into their nursery to complete it. He is ten now, so it seems like since then more awareness and education has been made which is definitely a positive thing! 
I have vowed that I do not ever want a parent to feel the same lonely and confused type of way that my husband and I felt when our beautiful, happy bundle of joy was diagnosed with an incurable disease. We realized that we can’t take anything for granted. Everyone assumes a child is supposed to be healthy. Well, I now believe that every child born to this world as purpose by God.. He has control over their life and the lives they touch. For this reason I advocate for parents and consumers that want more education about newborn screening. No one should feel alone or that there are not resources and support groups to help. 
Today Christian is an outgoing 10 year old that excels at basketball and his newest passion is Hip Hop Dance. Every obstacle that is associated with his disease he is overcoming.  He loves to spend time with his family and has a way of making us all value every day we are alive. 

Do you have an experience like this? Share your story with us!