When people find out that my children have congenital hypothyroidism, they often ask me how I found out. I explain that my children’s newborn screen results revealed that they had very high TSH levels. People often admit that they didn’t know there was mandatory newborn screening in the US, and that they didn’t know what tests were conducted as part of the newborn screen. I have to be honest that before my oldest son was diagnosed, I didn’t know about it either. I recalled that we consented to various tests and that his heel was pricked, but I couldn’t have told you what they were looking for at the time.
2013 marks the 50th year of newborn screening in the US. Screens are conducted for congenital hypothyroidism (CH) and phenylketonuria (PKU), as well as many other disorders and diseases. The NIH website has a full list of disorders that are screened for as part of the newborn screening tests: ). The CDC website is also informative.
What difference does newborn screening make? Newborn screening saves children’s lives. Without newborn screening, we may not have known about our children’s condition until it was too late. Untreated hypothyroidism can result in severe mental retardation and severe growth retardation. However, with medication, most children grow and develop normally. So for us, the newborn screen changed our lives and our children’s lives for the better. I feel very lucky to live in a country where newborn screening programs are in place. I know that because of this test, my children were diagnosed early, are being treated and will live normal lives.
Interestingly, bills were introduced in the US House and Senate this year regarding newborn screening. Representative Lucille Roybal-Allred (D-CA), along with Representative Mike Simpson (R-ID), introduced the Newborn Screening Saves Lives Reauthorization Act on March 20, 2013, with Senator Kay Hagan (D-NC) and Senator Orrin Hatch (R-UT) introducing its counterpart in the Senate on August 1, 2013. (See it here).
The legislation would reauthorize federal programs that assists states with improving their newborn screening programs (view here) and if you have time, watch the video about how newborn screens save lives). Both bills are currently in committee. You can use www.govtrack.us to track the status of these bills. I will be tracking them and will share any updates I hear. If you are interested in this bill and live in the US, contact your legislators. March of Dimes is also a good resource on this matter.
Many countries around the world have newborn screening programs. Sadly, though, some countries still don’t have newborn screening. (See The Changing Moral Focus of Newborn Screening: An Ethical Analysis by the President’s Council on Bioethics Appendix Newborn Screening: An International Survey by Joseph A. Raho, Research Analyst (full Article)). The most difficult conversations I’ve had with other moms of children with congenital hypothyroidism are those with mothers who live in countries where their children were not screened at birth. Their children were diagnosed after 6 months of age and after they already showed significant physical and mental delays. It was gut-wrenching to hear all that these children were going through, just because they were not diagnosed at birth by a simple heel stick. I cannot imagine the hurt and anger I would feel if I were in their shoes.
The good news is that more and more countries are implementing newborn screening programs. In April of 2012, Saving Babies Through Screening Foundation announced a partnership with World Solutions Against Infectious Diseases regarding worldwide advocacy of newborn screening. (See full article and see Savebabies.org). If you are interested in advocacy of newborn screening worldwide, it seems as though Saving Babies Through Screening Foundation would be a good start.
If you are pregnant, read up on newborn screening. Ask your doctor for a copy of the results from your child’s newborn screening. You are allowed to have the results of any medical test performed on your child. Make sure to go over any abnormal results or questions you have with your doctor.
Newborn screening may not mean much for some folks. For those of us whose children were saved by newborn screening, it means the world. I feel a renewed desire to talk about newborn screening and a renewed desire to tell this story, so that everyone can learn about the value and importance of newborn screening and so that other babies can also be saved.
-By Blythe Clifford
