I am ashamed to say that less than two years ago, I was blissfully ignorant of the test that would save my son's life. My husband and I were both healthy and came from healthy families with great genes. I had read all the books on pregnancy and taken all the classes. I had already given birth to one healthy baby boy, yet somehow newborn screening took us by surprise. This surprise didn't come while his screening was happening in the hospital, 24 hours after LB's birth, but 3 days later when we got a call from our pediatrician telling us our son's levels for MCADD were "off the charts" and he was a presumptive positive for this rare, random metabolic condition that we couldn't even pronounce.
We got a crash course in newborn screening as we were learning how to care for our adorable baby boy with a metabolic condition. Once the shock of it all wore off, I felt an overabundance of gratitude for this system that I didn't even know existed and I vowed to make sure that more parents were aware of this lifesaving test. I was selected to serve on the Baby's First Test 2013 Consumer Task Force on Newborn Screening and I knew that my project as part of this effort would somehow have to do with educating expectant parents about all the things I wish I knew about newborn screening:
1) I wish I knew that newborn screening was going to take place. I'm glad my newly postpartum hormones didn't cause me to freak out on the poor technician who came into our room to take drops of blood from our son's heel, but I kind of wish I didn't miss it altogether with both of my boys, either. Especially, now that we know what we know. I wish I had a chance to say thank you to that technician.
2) I wish I knew why newborn screening was even necessary. He had great APGAR scores. He was a healthy weight. He was latching well. All the doctors who examined him in the hospital told us he was healthy. Why would a perfectly healthy baby boy need to have his heel pricked? Couldn't everyone see that he was perfect?! Well...he was perfect on the outside, but we soon found out that there was something going on inside his body that no one would have been able to spot just by looking at him. There was something invisible going on, an error in his genetic code that was putting him at risk of all kinds of scary things. I wish I knew that there was a test like this to let us know that our healthy baby boy really was HEALTHY - inside AND out.
3) I wish I knew that it could happen to me, to our family, a family with great genes and no history of anything like this. I was the kind of person who didn't see the need to do any prenatal screenings either. I figured that I was healthy, my husband was healthy and we came from healthy families, so something like this would never happen to us. I wish I knew that we were not immune to this recessive genetic condition popping up in our son - a 1 in 15,000 chance. For my husband and I, we just both happen to have the same silent genetic mutation and we just happened to fall in love and have a family. We now know that it's a 1 in 4 chance that our children could have MCADD. It can happen to us and it did.
4) I wish I knew that there is system in place to support and educate families with positive screenings. Not knowing that newborn screening even existed, I felt very alone and very scared in those first hours and during that long first night home with an MCADD diagnosis, unable to sit down and talk face-to-face with our pediatrician until the next morning. I now know that I have a team of genetic counselors who explained autosomal recessive inheritance to us and can coach us through any future pregnancies with regard to MCADD and who personally worked with our pharmacy to ensure that the medication he needs can be supplied to them. I now know that I have a team of metabolic specialists ready to answer my phone call 24 hours a day 7 days a week when my child is ill and a pediatrician who cared enough to give us his personal cell phone number so that we would never have to use his answering service. There are also scores of online support groups for families and an endless array of resources for every possible need in our lives -- feeding tips, diet tips, educating our child's teachers, creating 504 plans, you name it. I am not alone!
In thinking about the best way to spread this message, I was immediately confronted with the newborn screening conundrum -- obstetricians and midwives take care of the pregnant woman and newborn screening is a test done on infants, in many cases BEFORE they even see their regular pediatrician. It happens during a transitional phase of care between the mom and the baby. Not to mention the fact that it happens during one of the most chaotic times -- 24 hours after giving birth when you are exhausted and sore and trying to juggle excited family members and doctors and nurses and lactation specialists and phone calls and more excited family members and take care of this tiny little life that you are still absolutely breathless about (i.e. NOT the best time to educate anyone about anything).
Considering a 24-72 hour hospital stay is such a short span of time compared to the 9 months that a woman is pregnant, it just made sense to me that newborn screening education should be performed by the obstetrician or midwife, yet I was never handed any brochure about newborn screening from my OB's office. I guessed this was because they specialized in pamphlets that talked about pregnancy, not about babies. In my research, I found only one piece of literature that married prenatal education with newborn screening education and it was from the U.K. - a timeline that described all the screening tests to expect from conception through to newborn screening and I knew that it was genius! I wanted to do something like this for the U.S.!
Since I am graphic-design challenged, I decided I needed a designer to help me put this idea on paper. I happened upon a graphic design program at a local university whose department chair was interested in working with me. She paired me with a class and I became their "client." I made several visits to them - first, to tell my story and then to see how their creativity brought my idea to life. I was blown away by how thoughtful and creative they all were. They brought such energy to this effort and I know that they will be giving me a very difficult job of selecting only one winning design that I will produce and distribute across the region. I am so very excited to get started.
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