Emmalyn, Age 10
Emmalyn graced us with her presence 10 and 1/2 years ago at 35 weeks gestation weighing in at 5 lbs, 7 ozs. and 18 inches long. Our beautiful baby girl was so tiny and perfect, and 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. A few days later, we brought our seemingly healthy baby girl home. On our second night at home around 10:30 pm, we received THE devastating phone call that no parent ever wants to get. In an instant, our new baby bliss turned into sheer panic, fear, and grief. That moment, one I will never forget, is when our daughter became a brave and fearless Rare Disease warrior. The nurse solemnly spoke these words to me, “I don’t want to alarm you, but your newborn baby is very sick and needs to be brought to the hospital immediately.” She then told us to pack our bags because Emmalyn would be transferred to the Children’s Hospital two and half hours away after she was stabilized. We were given no details about what was wrong except that her Newborn Screening came back positive for a rare genetic disorder. The next couple weeks were a blur of tears mixed with overwhelming fear, uncertainty, anger, devastation, and immense heartache. After 8 days in the 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 the amino acids lysine, hydroxylysine, and tryptophan which are building blocks of protein. The excessive levels of intermediate breakdown product will then accumulate and cause damage to the brain, including the basal ganglia. There is no cure for her disorder but we manage daily with specialized metabolic formula, medication, a carefully measured low protein diet, frequent blood work, strict emergency protocol management, and extra caution during cold/flu season. Emmalyn is now almost 10 years old and living a full, happy, and healthy life. I homeschool to keep her from being exposed to all the contagious illnesses in the school system. She has abnormal MRI’s, slight developmental delays, learning disorders, speech delays, macrocephaly, and secondary carnitine deficiency which are all common for her disorder. She is also brilliant, funny, loving, compassionate, beautiful, and exceptionally brave! Looking back now, the worst phone call we ever received will also be the best call of our lives in that it was what saved Emmalyn’s life. Without newborn screening and the quick response by her medical team, she could have lost all her motor skills or life due to metabolic acidosis, encephalopathy, and striatal necrosis. There is still much more to learn about her disorder, many people to educate and inspire, improved protocols to be established, and an eventual cure to be found. Medicaid covers the formula, but if we lose this coverage it will cost approx. $1,000 per month.