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A Year of Gratitude

  • One year ago this month, we welcomed a baby boy into our family.  Like my first pregnancy in 2009, my second pregnancy was completely uncomplicated.  Our son, “LB”, was born happy and healthy in March 2012.  We spent a few days in the hospital, more for my sake than for his because he was born by C-section, but were eager to head home and embark on our new life as a family of four.  Understandably, we were a bit more relaxed at the notion of taking LB home from the hospital than we were two years earlier with his older brother, when everything about babies was new and slightly overwhelming.  The pediatricians at the hospital who cared for LB never noted anything of concern. We happily headed home from the hospital when he was three days old.  As far as we knew, he was 100% healthy and we never gave a second thought to things like newborn screening.  To us, he was simply perfect – the completion of our family.

    That first night home, we sat down to a family dinner, complete with a birthday cake for LB, lovingly baked and adorned with nearly an entire container of sprinkles by his proud big brother (with Grandma’s help).  We had just finished singing happy birthday to LB when my husband’s phone rang.  He excused himself to answer the call, expecting it to be another outpouring of congratulations from friends or family.  The call was one that we never expected, never imagined, but that changed our lives forever.

    LB’s newborn screening had come back with off-the-chart indicators for medium chain acyl-CoA dehydrogenase deficiency (MCADD).  Our pediatrician was calling with an urgent need to know how long it had been since LB last ate.  He gave us basic information about MCADD and told us that although follow up testing would be necessary, it was very likely that LB had MCADD and it was very dangerous for him to go for long periods of time without eating before we knew for sure.  He instructed us to set an alarm to wake and feed him every 2-3 hours through the night and to come to the office first thing the next morning for more information.  It was imperative that LB was seen right away.

    The next few weeks were a flurry of doctor’s appointments and lab work for everyone in the family.  LB’s positive newborn screening for MCADD was quickly confirmed with follow-up testing that continued to show his levels at four times what was considered normal.  We were seen by our pediatrician, along with the wonderful doctors and genetic counselors from the Inherited Metabolic Disease Clinic at the Colorado Children’s Hospital who carefully educated us about LB’s condition and what it would mean for his long-term health.  While the professionals refreshed our memories from high-school biology and chemistry class of genetics and metabolism at those appointments, LB slept peacefully through everything, including the numerous blood draws.  He was still our perfect little baby and we were becoming more grateful by the minute for the system that had saved his life – a system that we hardly gave a second thought to before that phone call. 

    Although the diagnosis was scary at first, each bit of information we received made it seem less scary and more manageable.  The exception to that were the statistics – prior to being included on the newborn screening panel, 25% of babies with MCADD died in their first week of life and 25% died during their first illness. Sadly, the metabolic clinic also informed us that the last baby in Colorado who had screened positive for MCADD died while his test results were being processed.  That family’s phone call came a day too late to help their baby and the grief they must have experienced hit me very hard.  We were so very lucky that LB’s newborn screening was processed so rapidly and that we were notified so quickly.  Thanks to his rapid newborn screening, we had information that was saving our baby’s life and it was as simple as setting an alarm, waking him up and feeding him. If only every family were so lucky.

    As I sat and nursed LB every two hours around the clock in those early weeks, I was profoundly grateful.  We never once complained about the sleep deprivation that new parents face or wished for the day that he would sleep through the night.  Contrary to the popular old wives tale, we HAPPILY woke our sleeping baby every two hours, slowly building the time between feedings as his metabolism could withstand.  During the quiet hours of the night as I snuggled my little miracle, I thought a lot about those other parents whose children perished prior to the inclusion of MCADD in newborn screening or who perished in spite of newborn screening because the system somehow failed them.  I wasn’t sure how to help, but I knew that I needed to do something. 

    The first thing I did was to make a list of all the people who I needed to thank for saving my son’s life -- the lab tech who pricked his heel, the people at the hospital who carefully boxed up the screening cards and mailed them to the lab, the hospital decision-maker who authorized the extra money it would cost to courier the cards to the lab so that they would be processed quickly, the lab tech who fed LB’s card into the spectrometer, noted the abnormal result and set about the course of action that interrupted our cake and ice cream celebration that night.  I wrote letters to the nurses at the hospital who, as a normal course of doing their jobs, woke us up every few hours during our stay and prompted me to feed LB even though there was no way they could have known at the time that this action was saving his life.  I hugged the staff at the metabolic clinic for mobilizing all of their resources to find our family late on a Friday night. 

    As one might imagine, the list of my gratitude quickly became endless.  When I couldn’t exactly figure out the best way to show gratitude for the fact that LB’s test results didn’t arrive at the lab on a weekend or a holiday which could have delayed his diagnosis, I started to think beyond simply saying thank you.  I realized that my education in communications and public policy and my career as an advocate for alternative transportation fuels could be put to good use for this new cause that instantly became so close to my heart.  I started to think about the bigger picture and learn about the process because I knew that I needed to become an advocate, not only for my son’s health, but also for the broader world of newborn screening to ensure that the system continues to work for other families the way it worked for ours.  In my research, I discovered the incredible resources available on the Baby’s First Test website along with information about the 2013 Consumer Task Force on Newborn Screening.  I was so eager to give back to the system that had given so much to our family that I jumped at the opportunity to apply.

    Although MCADD does not define our son and we are always careful to emphasize the ways that he is just like every other child, his MCADD diagnosis is a vital piece of information for everyone involved in his daily life and care.  This is especially true when he is sick.  Illnesses are problematic for kids with MCADD because they are often accompanied by decreased food intake, vomiting or diarrhea – all things that stress their metabolism and could potentially throw them into a life-threatening metabolic crisis.  LB has weathered a few illnesses on his own at home while we carefully monitored his food intake and kept in close contact with his pediatrician and metabolic specialists.  He has also battled three gastrointestinal illnesses in the hospital with the assistance of a special glucose IV fluid solution that helps him to maintain his metabolism during times when he’s unable to eat enough on his own. Without newborn screening, it is unlikely we would have known to treat his illnesses this aggressively. 

    We just celebrated LB’s first birthday and to this day, each time I wake to our alarm clock, reminding us that we need to wake our sleeping baby to feed him, my resolve to do something positive with our experience is solidified.  Newborn screening has likely already saved LB’s life and knowing that he has MCADD will continue to save his life every time he has an illness that impacts his food intake for the rest of his life.  We are eternally grateful for newborn screening and for the entire chain of people who helped find this error in his genetic code, who taught us how to keep him safe and who stood by us around the clock during times of illness to make sure that he was going to be OK.  When I think what might have happened without this test or without our rapid notification about LB’s condition, I am determined to do everything in my power to make sure other families are blessed with the important information contained in newborn screening tests about their otherwise outwardly healthy newborns.  In our experience, it is the single most important test in a baby’s life.

    I am incredibly honored to be part of this amazing group of moms on the 2013 Consumer Task Force and am looking forward to all of the good work that we will be doing in the coming year to increase awareness of this critical and life-saving testing. 

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