Living With Conditions Our Sweet Blessing
This family story was collected as a part of the Newborn Screening Family Education Program*, a program of Expecting Health, that is dedicated to developing opportunities for all families to learn about newborn screening.
On December 31st, 2020 we had our beautiful baby boy at 7:49am weighing 9lb 12oz. He was in the NICU due to low blood sugar and high heart rate for three days. We had 24 hours at home with our little blessing before our entire world was flipped upside down. On January 5th we got a call from a Geneticist at the Community Health Clinic in Topeka, IN. The words I’ll never forget were, "Your son tested positive for SMA on his newborn screening and without treatment most babies do not live past 8-18 months." I just sat there in disbelief with tears streaming down my face wondering who even is this lady? I put her on speaker phone so my significant other could hear and we let her know that I had genetic testing done while pregnant and everything came back low risk. She explained in order to have known about this rare disease while pregnant I would of needed to have carrier testing done. My first thoughts in anger were why was I never informed there was more testing out there that could have prepared us for this. She went on to explain the severity of the disease and how we both had to be carriers in order to pass this onto our baby. She wanted us in her clinic the moment we hung up, and to this day we still keep in contact with such an amazing lady who is now part of our journey.
We got to the clinic where our son would need to have a blood draw to confirm what type of SMA he had and how many copies. The geneticist guessed spot on with Type 1 (most severe) and 2 copies of the SMN 2 gene also known as the “backup gene”. SMA stands for Spinal Muscular Atrophy, a genetic (inherited) disease that causes muscles to become weak and waste away. People with SMA lose a specific type of nerve cell in the spinal cord (called motor neurons) that control muscle movement. Babies with Type 1 show symptoms before 6 months of age. Our baby was symptomatic on day 5 and was not moving his arms nor legs, and had no control over his head. All I could do was wonder if my baby would even make it to receive the treatment he needed to stop or slow the progression of this terrifying disease. Every day mattered, and I felt like I was losing my sweet boy.
Prior to 2018, Indiana did not test for SMA on their newborn screening panel, which meant we were lucky to have had a baby two years after it was added. The first FDA approved treatment was in 2016 and now there are currently 3 FDA approved treatments. We chose the world's one-time most expensive 2.1 million dollar infusion that took an hour to enter the body. Zolgensma is a SMN-enhancing therapy that works by replacing the function of the missing or nonworking SMN1 gene with a new, working copy of an SMN gene. It uses a harmless virus with some of its DNA replaced by a copy of the human SMN1 gene.
Fast forward 3 months post gene therapy, when we were told we would see the biggest changes in movements and that is indeed when we realized his body accepted the hour infusion. Zolgensma works like a virus capsule, so we had to keep him in a bubble for over three months during the scariest times of COVID. If he was to get sick before or within the three months of treatment his body could reject it and the 2.1 million dollar chance we were so grateful to get would never come again. During these 3 months, he was unable to get any vaccines as we had to keep his immune system pure and had to get blood work every single week to make sure kidney and liver levels stayed within range.
Waylon is on biPap at night as he is a belly breather, which also comes with SMA. SMA babies have what they call a bell shaped chest so being on biPap then widens the chest and assists with the belly breathing. He has 3 therapies a week Occupational Therapy, Speech Therapy, and Physical Therapy. Waylon has came such a long way and we continue to see him progress daily but our future is still so unknown. Treatments are currently changing the natural history of SMA and newborn screening is making it possible for babies with this disease to receive treatment prior to showing any symptoms, in turn meeting milestones like never before, which to me is breathtaking.