Texas Born: Newborn Screening in the Lone Star State~ Krabbe Disease and PKU

This is an “interview” with Bill Morris. Bill and I met as part of the Baby’s First Test Task Force. Bill and his family lives in Central Texas and Bill serves as the Newborn Screening Advisory Committee Chairperson for Texas. I am honored to have met Bill and in awe of the strides he is making in Texas to impact positive changes for all newborn babies. We are both parents who are impacted by newborn screening and passionate about letting other parents know about supplemental screening… a piece of valuable info that each of us was lacking when our children were born.

Here is some of our Interview with Bill and his wife:

• Tell us about your story/journey with newborn screening….

            Our family’s journey into the world of newborn screening started before we even realized that it did. It started with the birth of our second child, Seth, in 1999, who was diagnosed with PKU (Phenylketonuria) at 11 days old being identified through the Texas Newborn Screening program. Because Seth was identified and protected from his condition (that we had no knowledge that we carriers of PKU) we assumed that newborn screening was a wonderful program that would protect all of our future children from inheritable diseases. Greyson’s birth in 2007 and his death a week before his 1^st birthday from Krabbes Disease, a second inheritable disease that we carry, slapped us in the face with it’s shortcoming of the newborn screening programs, both locally and nationally,  and it’s lack of public awareness.

• What did you know about newborn screening before you had children/when you were pregnant?

As a nurse, I had only the most basic understanding of the logistics of screening in the hospital, and even after Seth’s birth I failed to educate myself about the program and just took it for granted. It wasn’t until Greyson’s health started deteriorating that I started to realize that a newborn screen existed for his disease but wasn’t performed in the Texas program, and that each state has a different group of heritable disorders that it screens it’s newborns for. We didn’t know that supplemental newborn screening could and can be obtained upon request.
 

• What is the MOST IMPORTANT THING you want to tell parents who are expecting a baby?

THE MOST IMPORTANT THING I want to tell all expectant parents is: What NEWBORN SCREENING IS AND IT’S PURPOSE. Grey’s Gift Memorial Foundation’s slogan is “Become Aware” because awareness is power. It arms parents with the knowledge and power to protect their newborns.
 

• If you had a million dollars…..

If I had a million dollars, I would provide the Texas State DSHS lab with everything that is needed to test every newborn in Texas for the complete RUSP and secondary recommended panels, instead of leaving it to state politicians to provide funding to implement full newborn screening.
 

• What is your biggest daily challenge?

My biggest daily challenge is living with the knowledge that the newborn screening program in Texas is incomplete and that every year in Texas over 125 babies go undetected with a treatable disorder leaving them disabled or dead, like Grey.  Babies all over the United States are dying and are injured by preventable inheritable disorders every day.
 

• What do you know NOW that you wish you knew THEN?

I wish I knew that supplemental newborn screening packets were available and accessible.
 

• How has this experience changed you and your family for better and for worse?

For the better – We have known the complete and total love that Grey had for us and us for him. We now also realize just how fortunate we were with Seth.
For the worse – Losing Grey. Knowing the helplessness of having a child affected by an inheritable disorder, being told that he was terminal and not being able todo one thing about it.
 

• Tell us a little bit more about the metabolic/genetic/immune disorder that affected your family? What is it? symptoms? treatment?

photo courtesy of Bill Morris

Seth has Phenylketonuria (PKU), which is a metabolic disorder that makes Seth unable to digest the primary protein found in all foods, Phenylalanine.  When not digested, it builds up in Seth’s blood.  PKU has to be controlled by diet and supplemental nutrition (medical foods, amino acids, medications). If it weren’t controlled, Seth would be severely disabled with mental retardation and physical disabilities.  Toxic levels of Phenylalanine in Seth’s blood could cause the destruction of grey-matter in Seth’s brain.  Because of the fact that Seth has been treated since diagnosis at 11 days old, he hasn’t experienced symptoms.

photo courtesy of Bill Morris

As with Seth’s disorder affecting the “Grey” matter in his brain, Greyson’s disorder, “Krabbes Disease” affected the white matter of Greyson’s nervous system. Because of an error in the Lysosomal Storage system in his cell’s metabolism, Grey’s body was unable to maintain the myelin sheath that covers and insulates the nerves in the human body. Because of the fact that this deterioration in Grey’s white-matter was centered in the white-matter center of his brain, Grey’s primary bodily functions were affected; i.e. breathing, thermoregulation, etc. The onset of these affects did not start until after Greyson was 4 months old according to the doctors.  Grey’s very first difficulty after birth was that he was “allergic” to the baby formula that we were feeding him. After prolonged bouts of severe diarrhea and several formulas we found a $35 can formula that he could tolerate.  After we got that taken care of, Grey didn’t have any other symptoms until he started missing developmental milestones, like “poor head control” at 6 months old, not able to hold his bottle, trouble sitting up, started rolling over, and stopped; finally, partial paralysis. At the time, we didn’t think about it, but just prior to onset of symptoms, Grey had a severe ear infection that he received antibiotics for. When we went to see the doctor about our concerns, we were “brushed off” with, “he’s the youngest of 4 boys, he’s just lazy. He’ll catch up” But when Grey started rolling over and stopped, we made his 7 month appointment early and made it with one of our practices senior doctors, and this was the start of our attempts to diagnosis Grey’s disease, which we were unable to do completely until after he died.

• Anything else you would like to share? Advice? Words of wisdom? Quote? Photo?

Become Aware! All parents need to be made aware of the importance of newborn screening and the dangers of the “lack of testing” and the availability of supplemental testing during the prenatal period!

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Please check out the Morris’ family’s foundation: Grey’s Gift Memorial Foundation– in loving memory and honor of their son Greyson. If you have a friend or loved one that is expecting… consider giving a unique LIFESAVING baby gift… A supplemental newbornscreening kit.  A $100 donation to Grey’s Gift will give them (and you) a gift that will keep on giving…

You can read another article about Bill’s family’s journey here at Baby’s First Test.

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