Against all Odds
Why am I involved in newborn screening advocacy? The answer to that is not easily answered. It was a journey, be it a personal one, but it has affected my professional life significantly. Some people who know me would say that this journey started 3 years ago. I however know that it started before that. I just hadn't realized that it had begun.
My journey started on June 14, 1999, with the birth of my second son, Seth. I was understandably excited and more than a little overwhelmed. I was already the father of a 4-year-old boy and thought that having 2 children wouldn't be that difficult. I was WRONG! Dealing with one child is totally different that caring for two. Just as I thought that things were starting to become balanced and that my wife and I had adjusted to the added responsibilities, eleven days after Seth was born, I got a call from our pediatrician's office telling me that Seth's newborn screening had produced an abnormal value and we needed to perform confirmatory testing immediately. It was as if the floor had dropped out from under me. My wife, rightly so, expected me, as a pediatric nurse, to know what was happening. I didn't! I desperately tried to recall the newborn screening portion from my nursing training, I drew a blank. Through asking questions, I found out from a nursery nurse that I knew, that I, of all people, had drawn the blood from infants on several occasions when I helped out in the hospital nursery, not realizing what testing was being done.
At eleven days old, Seth was diagnosed with Classical PKU (Phenylketonuria), a recessive disorder that prevents the child affected from digesting Phenylalanine, the primary dietary protein, which causes an increased blood serum amount of Phenylalanine. If not controlled this concentrated build-up of Phenylalanine becomes toxic to the affected child's gray matter in the brain, causing destruction of brain tissue with severe mental and physical handicap resulting. The miracle that I took completely for granted was the fact that PKU can be screened for, detected prior to damage, and treated. As my family and I settled into adjusting to the requirements of caring for a child with a genetic disorder, I failed to realize how truly blessed and fortunate I was. My child was healthy and would remain so because of successful treatment and control of his disorder.
I took the miracle of newborn screening for granted. I never gave it a second thought. I just naively thought that newborn screening was perfect and complete. Instead of being proactive and researching the capabilities and limitations of newborn screening, I comforted myself with the laws of percentages. I had been told that my wife and I need not worry about a second recessive disorder in our DNA, the chances of that were 4 million to 1. I had a better chance of winning the lottery! That was exactly what I wanted to hear, so I stopped there. I didn't give it another thought.
I was, however, very conscious of the serious nature of having PKU in our DNA and I took steps in both my third and fourth sons births to make sure that newborn screening was given priority. I even ran the samples to the screening lab myself. The chances of us even having another child with PKU were only 25%. Those were odds that we could deal with. What I was not aware of was that all humans carry an average of 6 recessive traits in our genetic make-up.
My youngest son, Greyson, was born on December 18, 2007. He was a wonderful Christmas present. He was the perfect completion to our family. I was content and relieved when his screening came back normal, no abnormal values, and settled in to enjoy the last baby that my wife and I planned to have. Everything was wonderful for the first 6 months; Greyson was a normal, healthy, happy baby and was very much loved by everyone. He was exceptionally social and bright, and started to talk very early. But then he started missing developmental milestones. By 8 months, I knew something was seriously wrong, not only was he not meeting his milestones, he was regressing, losing skills, going backwards.
After 3 desperate months of seeing specialists and having diagnostic procedures and tests, the stuff of nightmares, we were told that Greyson was terminal. He was suffering from Krabbe's Disease, a devastating disorder that causes the degeneration of the Myelin sheath of the nervous system, causing paralysis and other devastating neurologic damage. This damage resulted in my youngest son Greyson William Morris dying in my arms 6 days before his 1st birthday. My wife and I are the 1 in 4 million. We share not 1 but 2 different recessive traits in our genetic makeup. The worst part, if losing a child can have a worst part, was that if Greyson had been screened for Krabbe's Disease, we would have not only known, but instead of spending $120, 000 dollars in diagnostic procedures and tests, we would have had treatment options. TREATMENTS!
I quickly learned that each state screened for different recessive disorders, and that which ones was dependent on which state you lived in. If Greyson had been born in New York, he would have been screened and identified, allowing for possible treatments. I also learned that my state, Texas, tested for the lowest number of disorders. I was outraged!
My family and I immediately jumped into the political world and decided that we wanted to fix the shortcomings of our beloved home state. We helped write, supported, lobbied for, and ultimately succeeded in passing HB 1795 which became "Greyson's Law", which created a newborn screening advisory committee and was supposed to add screening for an additional 24 disorders which would make Texas compliant with the 54 recommended by the ACMG (American College of Medical Genetics) which was the recognized authority on newborn screening standards at the time. This was the start of my journey into the world of newborn screening advocacy. Now we have the Secretary's Advisory Committee on Heritable Disorders in New Borns and Children (SACHDNC) and the Recommended Uniform Screening Panel (RUSP) and it has increased to 56 total screens. Texas is still last in the nation.
To my knowledge, I am unique among the advocates for newborn screening. I have one child that was saved by newborn screening and one child that died because of the lack of newborn screening. I feel that because of this, I have a responsibility to educate other parents of the existence of, and short comings of, newborn screening. Therefore, my wife and I established Grey's Gift Memorial Foundation to educate expecting parents about newborn screening in Texas and the options for performing supplemental screening.
I am very concerned, but not surprised, that most parents don't even know what newborn screening is. Education is not occurring in the prenatal period and, if it is happening at all, it is at the hospital after the baby has been delivered. I know from my own experiences as a parent, that the parents are overly fatigued and overwhelmed at this time and they are not absorbing, much less understanding, the information given. My mission is to take the proactive approach because . . . what if your baby was the 1, like mine was?