Emmalyn Hudson graced us with her presence in 2010 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 our baby would be transferred to the Children's Hospital two and a 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 of 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 hereditary 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 (and other organs with age), particularly the basal ganglia, which regulates movement. The accumulation of Glutaric acid passes through the blood-brain barrier and becomes a concentrated neurotoxin in the brain. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. The brain MRIs she had at one week old as well as subsequent scans identify all the classical brain malformations, white matter damage, and excess CFS space common to GA-1 patients. 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 and labs, strict emergency protocol management, and extra caution during cold/flu season. 

Emmalyn is now a teenager 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 and public. In addition to her abnormal MRIs and macrocephaly, she also has ongoing delays in development, learning, visual processing, and speech, ADHD, anxiety disorder, severe dyslexia, dyscalculia, and dysgraphia. She currently receives ongoing dyslexia therapy weekly and previously received speech and occupational therapies. Most importantly, she is brilliant, funny, loving, compassionate, beautiful, and exceptionally brave! Looking back now, the worst phone call we ever received will always 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 and become completely debilitated or worse, died, due to metabolic stroke and 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.

Written by: Shannah Hudson, mom to Emmalyn