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One Family's Loss and a Nation's Gain

  • As we celebrate Newborn Screening Awareness Month, we highlight a true champion of newborn screening. Jana Monaco is the mother of four children, two of whom have isovaleric acidemia (IVA), a metabolic disorder detectable at birth. However, when Jana's oldest son, Stephen, was born, their state did not require screening for IVA. Stephen lived a healthy life until age three, when he sustained a life-threatening metabolic crisis that left him with neurological damage and severe medical complications. This blog post is Jana's reflections on the last 10 years of her experience in newborn screening.

    As Newborn Screening Awareness Month comes to a close, my thoughts and emotions vary on what it means to me and what some of my hopes and dreams are for newborn screening.  It has been 10 years since my husband and I came to realize just how important newborn screening really is – both to a child and to their family. I will always wish that a site like Baby’s First Test existed for us 14 years ago.   Our son Stephen was diagnosed with isovaleric acidemia at age three and a half, because this condition was not routinely screened for at the time of his birth.  If it had, his and our life would be extremely different.  The past 10 years would be full of wonderfully, amazing milestones for Stephen and us as he lived out his early childhood to the fullest, like most kids his age.  Instead, it has been 10 years of continuous grieving of what we lost and continue to lose; learning and accepting the multitude of disabilities, seizures, surgeries and other complex health issues that are a direct result of lack of expanded newborn screening for Stephen.  Every year is another year of lost opportunities and memories taken away from us.

    These past 10 years have taken on a whole new meaning, and it’s one that has helped to give some sort of solace, however small, to our personal experience and loss.  A multitude of initiatives have taken place allowing us to use our tragic experience to help change newborn screening.  Laws are in place across the country expanding newborn screening to include all of the disorders recommended by the American College of Medical Genetics.  Babies are getting their diagnosis and treated right after birth.  Children like my daughter Caroline, now nine, are living out their hopes and dreams thanks to that early detection.  Education and awareness of these disorders and newborn screening is greater than ever.  People are beginning to talk about this important health topic through social media, right along with their discussions about car seats, breast or bottle feeding, selecting a primary pediatrician, etc.  More importantly, babies’ lives are being saved! 

    As my family and I continue to cherish each day with Stephen and appreciate his life and milestones that he is able to achieve through bittersweet eyes, we rejoice with Caroline’s life and the testimony to newborn screening that she represents.  I hope that expanded newborn screening for all detectable disorders will be “a given” for all babies, and that systems and technologies will be in place to provide parents with the important information prior to giving birth, just as it is for all other newborn health topics.  I hope no one will ever question newborn screening, and if they do, think of Stephen and what he would like to be able to say about it. 

     - Jana, Stephen's mom

    Jana Monaco is secretary for the Patient/Family Advisory Council at Children's National Medical Center, a former SACHDNC committee member, and former LEND Family Faculty Member.


    Yup, that'll do it. You have my apprecaiotin.

    Hoping stories like yours increases awareness for all babies.

    I just book marked your blog on Digg and Stumble Upon. I enjoy reading your commentaries.

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