Pages in Face to Face with the Group That Saved My Son's Life

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Face to Face with the Group That Saved My Son's Life

  • While I was in Atlanta at the Joint Newborn Screening and Genetic Testing Symposium with the Consumer Task Force, I had the opportunity to meet many of the people who   are involved with the newborn screening program in Colorado.  I already knew some of them from our interactions with the Inherited Metabolic Disease Clinic at Colorado Children's Hospital, but I was also introduced to some other influential folks from the public health side. 

    Like always, the first thing I did was to thank them for the work that they do because my family is still grateful each and every day for the life-saving information we gained from LB's newborn screening.  The next thing I did was to ask how I can help them in their work.  Their answer was for me to join the State Newborn Screening Advisory Committee, which was in need of some parent representation.  Last night, I attended my very first meeting!

    The Newborn Screening Advisory Committee exists to advise and make recommendations to the Colorado Department of Public Health and Environment's Laboratory Services Division and Prevention Services Division on issues in newborn screening.  It is comprised of experts from across the region in various medical, genetics, research, laboratory and public health disciplines.  From my understanding, there are similar groups in most states who help advise state-level policy on newborn screening.

    The focus of last night's meeting was three-fold...

    1) To discuss the state's implementation plan to begin screening for Pompe Disease, a lysosomal storage disorder recently recommended for inclusion in the national Recommended Uniform Screening Panel (RUSP) by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.  I was surprised to learn that there are several laboratory methodologies that can be used to screen for this particular condition.  The committee wanted to be sure to use the methodology that would be most conducive to integrating other lysosomal storage disorders that are also expected to be included in the RUSP in the near future, particularly MPS I (aka Hurler Syndrome).  Since Pompe is a condition that has both an infantile-onset and a late-onset form, there was also a good deal of discussion on how to be sure that the individuals with infantile onset are caught before 1 month of age so that treatment can begin immediately and late-onset individuals are identified so that they can be monitored for symptoms that will signal when treatment should begin.  In both instances, there would be huge gains through early diagnosis via newborn screening, in particular with the late-onset group that is currently experiencing a 6-10 year diagnostic odyssey to even learn they have Pompe.

    2) To update the committee on plans to implement Critical Congenital Heart Defect (CCHD) screening in Colorado.  There is national debate about whether pulse oximetry monitoring for CCHD should be a standard of care screening performed within the hospital or a state-mandated newborn screening.  Colorado is moving toward implementation of mandatory CCHD screening; however, they are concerned about how altitude can affect the cut-offs for what is considered a normal or abnormal screening.  There are several Colorado hospitals that are beginning pulse oximetry screening on their own as a standard of care in their newborn nurseries this summer and the hope is that soon all hospitals in the metro area will be doing it (and the metro area is where the majority of the births in the state occur).  With all the data from these hospitals in the coming months, the researchers and the advisory committee are confident that they will be able to make an informed decision about where cut-offs should be established and move forward with officially adding CCHD screening to the state's newborn screening panel.  Once it is included on the newborn screening panel, the Department of Public Health can begin a tracking and follow-up program to monitor this population and the CCHD screenings taking place statewide, which is important for Quality Assurance and Quality Control measures.

    3) To discuss a recently published journal article on Congenital Adrenal Hyperplasia (CAH) that was authored by several committee members.  Colorado is one of only nine states that perform a mandatory second newborn screening.  The first screening typically takes place in the hospital, while the second one typically takes place during a baby's first visit to the pediatrician at approximately 1-2 weeks of age.  This study showed that nearly 30% of CAH cases were picked up on the SECOND newborn screening, meaning they were missed during the initial screening.  This is a particularly important finding for boys with CAH (the gender most often missed) because babies born with CAH need to be detected early and put on medication to prevent salt-wasting which can lead to dehydration and even death.

    Although the meeting was quite technical, it was also very reassuring for me as a parent.  For Pompe, I was comforted to know that the committee is not rushing to implement screening in a manner that isn't mindful of additional screenings that could be added in the future.  They are sizing the program for maximum benefit to babies born today AND in the future, while also being mindful of the taxpayers and maximizing what they can do with their limited funds.  The fact that individuals with Pompe will soon have the benefit of early screening is also very exciting.  The current status quo of living for a decade with this condition, but not being able to get a diagnosis sounds incredibly frustrating.

    For CCHD, I was pleased to hear that they are being careful to assign informed cut-offs so that they can minimize false-negatives and false-positives, both of which can be traumatic for families.  The cooperation and initiative taken by the hospitals is also a huge boost for CCHD screening here in the state.  Although many of these hospitals compete for a piece of the lucrative childbirth business (all the fancy birthing suites, TV commercials and various amenities for new moms), on this subject they will all be coming together to share pulse oximetry data and do what is best for ALL babies born in the state, not just the ones born at their hospital.  They know when to compete and when to cooperate. 

    The meeting was a living, breathing ethics lessons with many competing priorities to be sorted through.  In the end, it was evident to me that everyone in the room was steadfastly committed to doing everything they can to ensure that the Colorado screening program continues to save lives and improve the lives of those with conditions detected by screening.   It was very much an honor for me to be part of it.   It was also very palpable in my heart that the people in that room each played a role in saving my son's life.  It meant the world to me that I could thank them, in person, for the work that they do.  They save babies lives every single day and I couldn't be more grateful that this group exists and that they do their jobs so passionately.

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