It's a Matter of Screening

Originally written in September, 2015.

He was born on a Thursday morning in the summer of 1996 - all 7 pounds, 1 ounce, and 18 inches of him. He had a long big toe and a mop of dark hair and bright blue eyes, and he was perfect…for 8 days. It turned out that our beautiful, happy, healthy-looking boy had Phenylketonuria, or PKU for short. His liver was missing something that it needed, and he would have to make many adjustments in his life because of it. There was (and still is) no cure.

Literally, in one moment, our son went from ‘normal’ to ‘different’, ‘healthy’ to ‘sick’, ‘perfect’, to ‘not-quite perfect’. It was scary. We were uncertain and nervous and confused; it was the most raw, anxious, and emotional time of our lives.
Thankfully, PKU was one of the five (yes, only five) diseases the state of Kansas tested for at birth in 1996 (along with galactosemia, hypothyroidism, sickle cell anemia, and hearing). That newborn screening for PKU saved my son’s future, and possibly his life.

Fortunately, the Kansas newborn screening panel now includes all 29 diseases recommended by the American College of Medical Genetics. In addition, Kansas has a comprehensive system in place to support the 2,000 (or so) babies who are identified through newborn screening each year, including: follow-up, diagnoses, management, education and evaluation.

September is National Newborn Screening Awareness Month – and we can celebrate knowing that we live in a state that understands that newborn screenings save lives, plain and simple, and I know how that feels personally, some of you do too.

Fast-forward 19 years and that beautiful, happy, healthy-looking boy is just that! He’s in college studying dietetics, living a normal life with a lot of adjustments, but aren’t we all? It’s the basis of humanity - that our amazing, resilient, individual bodies are flawed, yet wonderful. We’re a group of imperfect people living in an imperfect world, doing the best we can do with help from each other. And I love that!

Margaret

New Year's Day

Every year around this time I sit down and make a list of all the awesome things I want to accomplish in the New Year, because that’s what we do, right? I refer to my “to do” list as “inspirations” rather than “resolutions”, because it sounds more spiritual or doable or something. In the past my lists included: losing weight, eating healthy, being positive, finding the good, getting more sleep, spending less, praying more, reading more, relaxing more…and all those things are good. But the fact is, I weigh more than I ever have, I don’t eat healthy, I’m cynical (even negative), I stay up crazy late, buy what I want, pray marginally, read occasionally, and relax almost never. I guess I’m one of those optimists who plan big and fizzle out. But the important part of that is the “plan big” part.

I can think of a hundred things I’ve started in my lifetime that I didn’t finish – the snow fort when I was 10, the yard I thought would be fun to rake, the Thank You cards for my 8th grade graduation… more recently, my 2015 Christmas Cards (they’re coming, I promise). Months and months ago I asked two old friends to help me brainstorm some ideas for a speaking gig about that book I wrote 10 years ago, and then I never sent them copies of the book…why did I do that? Why do I start big things and then not follow through? I want to change and learn and grow; I want to push my limitations, step into a new setting, challenge my being…but I often stop before I really start.

I did that with piano lessons too, and traveling and cooking and organizing and budgeting and writing and exercising and a lot of other things. I was super excited to get one of those Mandela coloring books for my birthday last year and was finished with it before the first picture was complete; it stressed me out with all the tiny spaces, different colors, time…I learned that tedious, slow-paced activities are not my thing. I learn something from all my unfinished starts – something about myself, about what I like and don’t like and want and don’t want; something about timing or relationships or desire or talent. I learn to adapt, to plan, to do it differently or not do it at all.

At 48 I’m finally accepting and honest about who I am, what I like and don’t like, what I’m good at and not-so-good at, and most of that information came from all those endless beginnings. I didn’t make a list of inspirations/resolutions/to-do’s this year, I just made a decision – to begin again.

This New Year I wish you the opportunity to begin again too, to begin something, anything.

Margaret