Why I Tell Our Story

Considering that it has been more than 18 months since my last post to this blog, you can probably tell that MCADD is fading into the background for our family.  While we never actually forget that our son has MCADD, it certainly isn't something that dominates our thoughts like it was when he was an infant who needed to eat every couple hours.  Our son is five years old now, starting kindergarten, playing sports, being his silly self and generally just being a kid.  Other than his nightly snack at bedtime and that one crazy day this summer where he was so tired that he wanted to sleep for longer than 12 hours (we started waking him up every 15 minutes to make him drink something), he's very much a normal kid.  Hooray!  We couldn't be more grateful.

Much of my focus lately has been on newborn screening advocacy.  I will always be grateful for our son's rapid newborn screening and the information we received that helped us keep him safe in those early, fragile days of his life.  I'm always thinking about what I can do to ensure that other families have similar happy endings, even when they experience a positive newborn screening. 

I have had the opportunity to serve on the Colorado Newborn Screening Stakeholder Committee for the past four years and to participate in the Baby's First Test Consumer Task Force on Newborn Screening in 2013.  Both groups have exposed me to a myriad of ways that I can advocate for families like mine that have been impacted by the lifesaving power of newborn screening. I don't have to be a medical professional or a genetic expert to do any of this.  I just get to be me and talk about ordinary things in my life, which just happens to include MCADD.

In June, I was invited to speak at the Genetic Alliance "Beyond the Blood Spot Education and Engagement Summit" in Washington, DC where I shared our newborn screening story with more than 100 representatives from 22 states who were gathered to discuss best practices for improving parent and provider experiences with newborn screening.  After that meeting, I was interviewed for an article in Exceptional Parent Magazine about my journey from being a parent of a child with a rare condition identified through newborn screening to an author of a book about that condition.  The article, entitled "From Screening to Storytelling: One Mom's Advocacy Journey" was published in the August edition.

While I'm a bit hesitant to categorize myself as an "exceptional parent", I do feel strongly that our family's story is valuable.  I think about how scared I was when our son was diagnosed with this rare and unpronounceable condition and how much I longed for someone else who had walked this road with their child to tell me that my baby was going to be OK.  I think about healthcare professionals, childcare providers and teachers who have never met anyone with my son's condition and are looking for advice on how to support families like ours.  I think about how tight public health budgets are and how easy it would be for a state to cut this vital program without fully realizing its importance. If I don't tell our story, where will these people get their information? 

The reality is that there aren't many people who can tell the story of rare disease and newborn screening (that's why it's called "rare disease" right?).  Your story is valuable too and I urge anyone with a story to tell it.  When we tell our stories, we shine a light on the good that screening programs provide to all newborns and the immense potential of our children when they have the opportunity to grow up healthy thanks to early identification of their condition and a lifetime of mindful management. Not to mention the reassurance that we can provide to others who are stepping onto this path with us because they just got that phone call about their baby.