Living With Conditions The Best/Worst Phone Call of Our Lives
Our lives changed the moment we first saw two pink lines. Little did we know how this moment would impact the rest of our lives. I enjoyed pregnancy despite complications of gestational diabetes, hyperinsulinemia, hypothyroidism, and premature delivery. Emmalyn Reese Hudson graced us with her presence at 35 weeks gestation weighing in at 5 pounds, 7 ounces, and 18 inches long. My beautiful baby girl was so tiny and perfect. I couldn't believe how blessed we were to be her parents. Her Apgar score was an 8 and she seemed otherwise developed and healthy despite being premature. She did have an elevated white count which required her to have a round of IV antibiotics and another day of observation as a precaution. A few days later we brought our perfect baby girl home. On our second night at home around 10:30 pm, we received THE devastating phone call that turned our new baby bliss to panic. The hospital nurse called to tell us that Emmalyn's newborn genetic screen came back positive, and we needed to bring her to the emergency room immediately because she was very sick. We were told to pack our bags for a transfer to Children's Hospital almost three hours away after she was stabilized. The next couple weeks were a blur of tears mixed with overwhelming fear, uncertainty, anger, devastation, and immense heartache. After 8 days in Children's Hospital, we took our baby girl home with a scary diagnosis of Glutaric Aciduria/Acidemia Type 1 (GA-1). GA-1 is a rare genetic metabolic disorder in which the body lacks the necessary enzyme needed to break down lysine, hydroxylysine, and tryptophan which are amino acids, the building blocks of protein. The excessive levels of intermediate breakdown product accumulate and cause damage to the brain, specifically the basal ganglia. There is no cure for her disorder but we manage her disorder daily with specialized metabolic formula, medication, a carefully measured low protein diet, frequent blood work, strict emergency protocol management, and isolation from the public during the peak cold/flu season. Emmalyn is turning 7 years old this month. She has had an abnormal MRI, slight developmental and speech delays, macrocephaly, and secondary carnitine deficiency which are all common for her disorder. Looking back now, the worst phone call we ever received is also the best call of our lives, it was what saved Emmalyn's life. Without newborn screening and the quick response by her medical team, she would be completely debilitated, having lost all her motor skills or worse due to metabolic acidosis, encephalopathy, striatal necrosis, and brain atrophy/damage.
By Shannah Hudson