When My Newborn Screening Test Wasn’t OK: a Rare Disease Day Story

Every baby gets a newborn screening test, not every mother gets the news that the baby is OK. For me, the news was that baby needs a second test. And a third, and so on for 26 years. For Rare Disease Day, my daughter Lillian Isabella and I talk about how this actually happened.

In U.S. hospitals, baby’s first test is a heel prick to look for rare diseases, most of which are inherited genetic diseases with no cure. Mom’s sign a release when they check in, and many of us new mothers never give it a second thought.

And much as we fear the news, finding out if you’ve passed on a hidden rare disease can make the difference for the child’s health, happiness, and very survival.

I found out at day 9 for my first daughter that I carry PKU, and day 21 for my second daughter. The newborn screening test showed they each had signs of PKU. Only one in 10,000 babies are born with phenylketonuria, PKU. With this rare genetic disease, the baby is just fine during pregnancy inside mom, but on her own after birth, baby can’t digest protein in mother’s milk (or formula). Toxic levels of phenylalanine build up in the newborn’s blood even within the first 24 to 48 hours when the heel prick comes along to collect baby’s blood.

PKU has no cure, but early treatment means everything for this rare disease. Treated, PKU children have few or symptoms of their condition, or none at all. But if it goes undetected, the child may develop nerve and brain damage, and live with disability.

For my family, newborn screening provided two miracles in one lifetime, and today both my daughters are amazing women living healthy lives with PKU.


5 responses to “When My Newborn Screening Test Wasn’t OK: a Rare Disease Day Story”

  1. I remember those heel pricks with my two kids – never knew what it was for, and forgot about them. This post is so informative! And your daughter is beautiful (of course, just like you) and the two of you so great together in the video. Thank goodness for newborn screening!


    • Thanks Pam, so true it is easy to forget those early baby tests. The heel prick only came around in the 1960s for most hospitals; if I had been the one with PKU as a baby no one would have ever known. What a different life I would have had! The test came about from a mom who would not quit bringing her affected children from doctor to doctor until they found the cause – and soon after – the preventive treatment of diet restriction. Moms are amazing.

      Liked by 1 person

  2. I did not know about PKU. I was very fortunate (I still think about this) that my son was born without any problems (other than the 3 days of labor!). True too about my two grandsons. I thank God for those miracles every day.


    • Yes, I had learned about PKU in school in Genetics classes but it is so very rare – 10 times less common than Down Syndrome. So we rarely meet families with PKU and often, even when we do we wouldn’t know about it! The signs are all internal in the blood and brain. My two miracles are that we had newborn screening available for each of my babies, without that we never would have known in time to begin the healthy diet they need to have a normal life!



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