Newborn Screening and Genetics

Families’ Stories Explain the Need for Newborn Screening

By Elizabeth Jones, Newborn Screening and Genetics Specialist, APHL and Natasha Bonhomme, VP of Strategic Development, Genetic Alliance

Throughout time people have connected through story-telling. This year’s 2011 Newborn Screening Symposium in San Diego was no different.   APHL President, Victor Waddell, demonstrated the impact a story can make by sharing. His telling of the legend of the Giant’s Causeway caught the audience’s attention and made them think about how story-telling could highlight the benefits of newborn screening.  Keynote speaker Dr. Jennifer Puck echoed this idea when she discussed personal success stories from Severe Combined Immunodeficiency Syndrome (SCID) screening and treatment. This theme was brought up many times throughout the Symposium.

APHL-CDC Newborn Screening and Genetic Testing Symposium parent/patient panel

APHL-CDC Newborn Screening and Genetic Testing Symposium parent/patient panel.

Even with the myriad of scientific sessions, it was our parent/patient panel that served as the most powerful example of how stories act as an educational tool and can drive change.  We heard about the story of Zachary Wyvill who was affected by Glutaric Acidemia Type I and was left out of the California pilot program for this disorder. Today he has no motor skills and has been in and out of the hospital since birth.  Ironically, another Zachary, Zachary Black, was born in California a month later with the exact same condition. Fortunately for this Zachary, he was included in the newborn screening pilot, was identified with the disorder, and now leads a normal life. The stark contrast between the two Zacharys highlighted the implications for not screening for Glutaric Acidemia Type I.  The impact of the story of two Zacharys has directly led to changes in how pilot programs are conducted for newborn screening conditions across the country.

Additionally, we heard a story from Katie Janzen who was born with SCID and could not go to public places as a newborn.  She was treated for the disorder with a bone marrow transplant when she was five weeks old and now lives a healthy life as a young adult.

The variety of perspectives we received from several parents was invaluable. Their stories showed not only that newborn screening works, but also the struggles families go through when screening is not available.

Due to the current economic climate and recent legal issues affecting public health laboratories, it is more critical than ever for the newborn screening system to highlight the many success stories so that the general public and parents have a way to relate to and understand.  Storytelling will improve the image of newborn screening and allow public health laboratories to get the funding and recognition that they deserve.

See other newborn screening stories on our blog:

You can see more family stories on Baby’s First Test

Also posted on Baby’s First Test

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