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Challenging the Status Quo

  • Fourteen years ago, my son was born with Congenital Adrenal Hyperplasia (CAH).  But we didn’t know it – the District of Columbia and many states did not screen for this condition.  In fact at the time, most states screened for fewer than 10 conditions.  Fortunately at Georgetown University Hospital, they were able to quickly diagnose his condition and put him on the right medication, but he very nearly died – all for lack of a simple test.

    That experience led to my involvement in the District’s newborn screening program, and with a lot of work, we were able to add CAH and many other conditions to our list.  In the years that I’ve been involved with newborn screening as a parent, I’ve come to understand and appreciate the evolution of the newborn screening ecosystem; our Nation has made enormous progress since that first newborn test for phenylketonuria, just 50 years ago.  But it is equally true that this field is still evolving.  I want to do my small part in that evolution, and that’s why I applied to participate on the Consumer Task Force on Newborn Screening.

    The technologies that allow tests for newborn conditions from just a few little blood spots are amazing, and improving rapidly.  However, the screen itself is just one important part of the ecosystem.  While the technological innovation accelerates, the needs for education and awareness remain unmet. Too many parents do not understand the importance of newborn screening, and are not prepared at all to deal with the questions and decisions that come when newborn screening identifies a problem.  Many hospitals and health departments have no information available for parents who want to learn more.

    Baby’s First Test provides one way for both parents and professionals to find information about newborn screening tests and conditions in a user-friendly, accessible format.  As there is no such resource from the Department of Health or from area hospitals, I believe it would really help educate parents here about the importance of screening, and be a resource when parents need to learn about a specific health condition.

    My day job is in international development, and I am very aware of the inequities in health care around the world.  My child, born in the USA, lives a healthy, happy life because we know what his condition is, and we can get the medicine he needs.  Why should that not be possible for any child born anywhere?

    The fact is, in many middle- and even low-income countries, health practitioners are starting to look at how to begin building their own newborn screening ecosystems.  Their information needs are enormous.  It shouldn’t take them 50 years, if they can take advantage of American knowledge we’ve built up.  Baby’s First Test provides a resource to help begin educating health care workers, government officials, and parents all over the world about newborn screening.

    Building anything big takes a lot of different people doing their parts.  The Consumer Task Force gives me a chance to do my small part in helping build newborn screening systems, not just here but around the world.


    Very well put Mark! The thought of world wide awareness and the possibility of seeing those newborns be screened is amazing! What a great perspective. Glad to have you on the task force! :)

    Thanks, Mark, for sharing your story and for your work on behalf of all families!

    Mark, you are so right! We need to keep in mind, that the work that you do on the Task Force and with Baby Steps can have an impact in the future on an international level. There is definitely a need for international outreach in this arena. Thank you for sharing.

    Mark, you addressed an integral aspect of Newborn Screening, in that many parents do not wish to contemplate the "what ifs" that come with having a baby. NBS is such an integral part of having a baby, and, perhaps, catching a pediatric disease that might be treated prior to becoming symptomatic. Every child that we can help save is important. Your aspirations are admirable!

    Hi Mark, I emailed/commented two weeks ago about the possibility of further discussions. Thanks for your patience as I am now back from my trip. However, in the meantime, I have been getting nervous emails from parents concerned because the military healthcare insurer Tricare, has now stopped paying for solu-cortef. If you have any insight on this, your thoughts would be greatly appreciated. You can reach my via my email address or contacting The MAGIC Foundation in Oak Park. They will give you my personal contact info. Thanks!

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