Marlie

Marlie was born with an extremely rare genetic disorder called aromatic L-amino acid decarboxylase deficiency (AADC). There have only been ~30 reported cases worldwide. This enzyme deficiency affects the production of dopamine and serotonin, which are critical for the nervous system. Symptoms of AADC deficiency include severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. The autonomic nervous system is also impacted, resulting in irregular involuntary body processes such as blood sugar levels, body temperature, and blood pressure.

AADC deficiency is a challenge from birth that requires constant care and medical attention. Marlie’s main challenges have dealt with a compromised respiratory system and the position of her head is critical in keeping her airway open. There have been many bouts with pneumonia and she requires oxygen along with routine tracheostomy suctioning. One on one care is required at almost every moment and as a result an in-home nursing staff visits the house regularly. Marlie is able to interact through facial expression, eye movements, and laughter. She decides which nail polish she would like to wear along with movies she would like to watch, and she loves Justin Bieber.

Her parents are Chris and Andrea and she has two siblings, Wesley and Ella, ages six and three respectively. Chris works for Corning and Andrea is a stay-at-home mother. Andrea had been in both a dental hygiene program and nursing school, but the attention to Marlie’s health needs required she be at home. Wesley and Ella are healthy, sweet children who have been wonderful in sharing a good deal of their parent’s attention with their older sister. The extended family has shown support and love at all times and have helped Chris and Andrea throughout this experience. Unfortunately this is not always the case with some families, but they have poured out love when it is most needed. Marlie has been a blessing on the lives of all of those that have had the opportunity to know and love her.

UPDATE: Marlie passed away on February 27th, 2014. She is now up in Heaven, completely free of pain.