Newborn Screening Family Stories

Luke's Story (LCHAD/TFP)

Luke was born at 33 weeks via emergency C-section due to my HELLP syndrome (caused by his LCHAD). He was diagnosed via newborn screen at 5 days old while still in the NICU at our local hospital. On Day 6 he was ambulanced to Children's Hospital of Philadelphia, where he underwent more extensive tests to determine his LCHAD status and some baseline health information. Since then, we continue to follow up with his biochemical geneticist, a neurologist, a cardiologist, an ophthalmologist, a surgeon (for his g-tube and port-o-cath), and a developmental pediatrician.

He is on a special low-fat diet, determined by our metabolic team. Besides a few scary illnesses with extremely elevated CK levels, he has continued to grow and thrive at an astonishing rate!  His milestones have all been met at age-appropriate times. He was tested to have above average cognitive skills & vocabulary, and has never suffered any developmental delays. He is in a "regular" day care full time and does remarkably well. He LOVES to socialize (as he is an only child) and LOVES to learn and talk about his experiences.

We've taken him to the beach every year for vacation and he tells me every day how much he wants to go to the beach again...TODAY!  He is tall & "solid" build and has more physical energy & strength than I do some days. He is extremely positive and resilient about doctors and hospital stays (though he doesn't like the latter at all!), and he even acts out check-ups, blood sugar checks, IV sticks, port access, etc. with his father and me! 

He has recently started to realize, however, that he is different from other kids because of his g-tube & port and told me he didn't want the other kids at school to see his heart monitor because he wasn't a "real" kid. That broke my heart, but we talked about it, cried and hugged together, and then moved on. I'm sure it is only the first of many realizations that he is different from his so-called "normal" or "real" peers.

Our family & friends have been truly wonderful and supportive. Whenever there is a party, I'm always contacted ahead of time with the question, "What can I make for Luke?"  I feel truly blessed by all of the support from our friends & family and from CHOP's attention to every aspect of Luke's health. Most importantly, I feel blessed that our son has been truly LIVING & THRIVING, not just surviving, because of the NBS. Without that little heal stick, I shudder to think of what could have been.

Unfortunately, due to all that is required for keeping him healthy, we have decided NOT to further add to our family. We would not want to put another child through the turmoil that Luke has had to sometimes endure, nor would we want to "short-change" a healthy child by our world revolving around Luke's care. This is just OUR personal choice that we came too, through lots of difficulty, extensive medical advice, and prayer. Others may have a different outlook on subsequent children, and that is to be respected and commended, not judged.

Thanks for letting me share our story!

Beth Folcher (TFP carrier)
Wife to Mike (LCHAD carrier)
Mom to LUKE JAMESON, 3 1/2 (LCHAD/TFP)
Pennsylvania
folcherb@eastonsd.org