The Clock is Ticking….

Noah and Mom

Years ago when the newborn screening system began, it all came into being because of time. Newborns needed to be screened for a baseline panel of illnesses, because waiting for the sick ones to become symptomatic before diagnosing them could prove to be too late. The disorders that they suffer from could lead to disabilities and even death if not caught early. This incredible system was then developed, allowing brand new babies to be identified early, so lifesaving treatment could begin as soon as possible.

Though, are we being as aggressive as we could be? Have we gotten so hung up on building this system to be bigger and bigger, which is an important effort that can lead to saving more and more lives that the process of how it all happens has gotten a bit sloppy? Perhaps that is too harsh, but my family’s story is the result of some short-sighted procedural policies that ultimately lead to my son’s death.

My son Noah was born in 2009 after an amazing pregnancy and childbirth. For all intents and purposes, he appeared to be a healthy little boy. We were sent home from the hospital after our customary two day stay at the hospital to begin life as a family. A couple of days later after a family dinner, Noah stopped breathing and quickly turned blue. Horrified, we called 911 and performed CPR. He was rushed to the hospital where a team of doctors and nurses desperately tried to identify what had happened and save his life. It was of no use, and my precious newborn son died that night. We were devastated, and had no answer as to what had happened. The next day his pediatrician called. Noah’s newborn screening test came back positive for MCADD, a rare metabolic genetic disorder. Noah had gone into metabolic crisis and died from his undiagnosed disorder.

Learning more about it, we discovered that MCADD is treatable with special diet and protocols just about 100% of the time. But without the diagnosis, our hands were tied. Though, why didn’t we know sooner? Come to find out, there are a number of delays that exist in the system that keep parents like me from knowing the full story of our children’s health, therefore putting them at risk. In Noah’s case, he had been born on a Friday, and the state lab that runs the test was closed over the weekend. Why is that the case, when babies are a 24-7 sort of business? They don’t stop being born just because it is a weekend or holiday, yet many labs across the country follow regular business hours rather than baby hours. Clearly, Noah didn’t have those couple of days to spare. He needed his test results as soon as possible.

Other delays such as using the US postal service to mail in test samples, rather than an overnight courier can add time. Also, some hospitals will wait to send test samples to the lab until they have enough to warrant sending everything in one big package. This practice is called ”batching.” As you can imagine, in a system where timeliness is so important, it is surprising that these sorts of practices are allowed.

Noah’s story, and the issue of timeliness as a whole was featured in a watchdog report done by the Milwaukee Journal Sentinel called Deadly Delays in November 2013. And, USA Today ran an editorial follow-up piece just this month. The fallout from having these issues brought to light publicly has been amazing. Many states have heard the message loud and clear and have bent over backwards to address and correct these problems. The governing agencies that oversee the newborn screening process in the United States have also stepped up and taken meaningful measures to re-establish best practices and to work with the states to change as well. (This recent article from the Association for Public Health Labs addresses this point.) And federal legislation was signed into law last month that places and emphasis on tracking and paying close attention to timeliness of test results (verbiage was added to the Newborn Screening Saves Lives Reauthorization Act).

It will take time to implement everything, but things are really starting to happen. So, what’s left? What still needs to be addressed?

While so many states have taken notice of this movement towards timeliness and have made so many amazing changes, many more have done nothing, leaving babies at risk. My home state of Colorado has done next to nothing to respond for example. I just had another baby, Noah’s sister, and was surprised to see that her test sample took a day longer than his did. I was supposed to be fast tracked through the system, since we know my kids are at risk of having the same genetic disorder. It begs the question, how long does it take when you are not fast tracked? (Fortunately, our daughter does not have the disorder and is doing very well!) And what if a neighboring state did make changes? Something as simple as a state borderline can make the difference between a timely test result or not.

Another issue that has yet to be addressed by the system at large is transparency of records. The report done by the Milwaukee Journal Sentinel brought up a very good point. Parents should have a clear understanding of how each of the state’s programs are run, and be given the opportunity to make appropriate choices based on their needs. This is not something that exists today. Again, using my family as an example, we know that our unborn children bear a risk of having MCADD like their brother Noah. We know that we need aggressive and timely newborn screening. Thanks to our own investigation into this system and advocacy work, we had a certain wariness with trusting the system that we have to work with in Colorado, so we secured secondary testing through a private lab called Baby Genes, who could promise faster and more thorough test results. As you can see, we clearly needed it, and were grateful to be empowered to make that choice. By-in-large though, parents are isolated from making choices like this due to this culture of secrecy in newborn screening.

I worry that there is a disconnect between the scientific community that oversees this system and the families that live and breathe the decisions that are made about how it is run. Those of us who end up impacted in a negative way by some of these choices can tell you that our lives will never be the same. Either dealing with a special needs child whose future is uncertain due to brain damage and injury that could have been avoided if the child had had proper treatment right away, or families like mine who have an empty spot at the dinner table each night where our children should be. This test is so important. It is imperative that it function properly, quickly, and thoroughly. It isn’t just yet another test sample being slid into the machine. It is innocent human life. I have met some really dedicated people who work in this space that really do get it and care deeply, and yet others who don’t quite understand and connect with the impact of the work they do each day. This is what I want them to know: Thank you so much for the hard work that you do to look after the smallest and most vulnerable citizens in our country. Please take this seriously and make it a priority. Please empower families with the information that they deserve to have about their children as quickly as possible. Every second spent identifying these kids counts.

Sarah Wilkerson, Board Member, Save Babies Through Screening Foundation

 

Blog posts are written by both Save Babies Through Screening Foundation representatives and others not officially affiliated with the foundation. Posts do not necessarily reflect the views of SBTS. Posts are not medical advice. Please talk to your physician.

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