A Mother’s Joy Turns to Grief in a Matter of Minutes. Learn about Lauren VanNess’s courageous crusade for the timely diagnosis and treatment of MCADD.
Everett Boone Johnson “Rhett” was born Saturday August 26, 2017 at 8:11pm at Roanoke Memorial Hospital. When Rhett was born he showed no signs or symptoms of anything abnormal. He appeared to be a beautiful, healthy baby boy. My beautiful, healthy baby boy.
Since Rhett was my first child the hospital policy is that the mother and baby remain inpatient for two days, so we were not discharged until Monday afternoon. Upon discharge they made Rhett a follow-up appointment for Tuesday to be seen at his Pediatrician’s office for a weight-gain check. Breastfeeding and latching were not going great at this point and they wanted to keep an eye on his weight to make sure he was gaining enough. On Tuesday we took Rhett to see his doctor and they again reassured this extremely nervous and unsure new mother that Rhett was fine, he was just not gaining weight the way they would like. They wanted to check his weight again the following day on Wednesday and if at that point he wasn’t gaining they may want me to start supplementing with some formula but to just continue to pump since we were still having latch issues.
Wednesday afternoon we once again headed to the doctor but received a phone call on the way to his appointment that the doctor had some test results he would like to go over with us. I am a registered nurse I knew immediately that when your doctors office calls you with results and insists you go over them in person that they’re not good results.
When we arrived to Rhett’s doctors appointment they began to explain to us that our son had a newborn screening panel done before he left the hospital and those results had shown something they strongly suspected to be MCADD. I had never heard of this disease or any of the other fatty oxidation disorders that are similar. I had no idea what this disease was, how it was going to affect my child, if it could be treated, or what it meant for his future; I was terrified.
The doctor examined Rhett and said that with his weight gain still not being where he wanted and with this new very probable diagnosis that we needed to immediately begin feeding him every two hours, start him on L- carnitine, and go back to the hospital for repeat blood work. My whole world felt like it was crashing down around me. This couldn’t be happening when he looked like a perfectly healthy happy newborn baby.
We went immediately to the pharmacy, and then to the hospital for blood work. Rhett’s respirations throughout the day seemed to be increasing and when I spoke with his doctor about it that evening he said he was going to have us direct admitted to the hospital so they could monitor him overnight.
I was sitting at the registration desk speaking with the nice man who had also admitted me when I came in just shy of a week ago to give birth. He made a comment about how beautiful Rhett was and I looked down and realized he did not look right, he wasn’t breathing. I as I mentioned earlier am a registered nurse trained and certified to perform CPR on anyone and everyone but in that moment, I froze. I screamed for help and a security guard began CPR on my four day old son on the lobby counter of the hospital. The hospital we had just left two days earlier with our hearts filled so full they felt like they may burst.
Within a matter of minutes my son had gone from a diagnosis, to a treatment plan, to metabolic crisis, to fighting for his life in front of my eyes. Over the next six hours my son fought for his life. Rhett fought as hard as he could, but unfortunately, succumbed to his metabolic crisis shortly after midnight late Wednesday night early Thursday morning. Holding my son in my arms for the very last time, looking at his beautiful face one last time, and saying goodbye to him was the single absolute worst moment of my life.
Since Rhett’s passing I have often played the what-if game. What if we had gotten his newborn screening back sooner? What if he had been diagnosed just one day sooner? What if we had taken him to the hospital just an hour sooner, or even fifteen minutes sooner?
I have accepted what I’ve had no other choice but to accept. My son is gone and I can’t change that. What I can change is this happening to another family. At the time of Rhett’s birth in Virginia the state laboratory responsible for processing newborn screenings only operated five days a week Monday through Friday. Thanks to my sweet Everett Boone, to the support of many many people, my local representative and a little perseverance house bill 1362 “Rhett’s Bill” was signed into law mandating newborn screenings to be done seven days a week in the state of Virginia.
As a mother who has to deal with the loss of my child every day for the rest of my life, there is no more important message I can give you when dealing with MCADD than minutes matter. Every single minute can be the difference between a healthy baby and a metabolic crisis. Every minute that a newborn screening isn’t being processed, every minute that a family doesn’t know, every minute that someone with MCADD goes without treatment matters. The single most important thing that can change an outcome for a child with MCADD is early diagnosis and treatment.
By Lauren VanNess, in loving memory of Everett Boone Johnson.
Thank you, Lauren, for sharing your story with us. Thank you for your strength, courage and passion to help others. Rhett will forever be on our minds and in our hearts as we continue to advocate for MCADD awareness.
– Beth, Minutes Matter – MCADD