Three years ago, our 5 year old daughter, Ellia, was diagnosed with an extremely rare life threatening genetic disorder that affects her skeletal muscles during illness. She is the first case in the US and there is little known about her disorder. She has had several episodes of rhabdomyolysis—a condition where the muscle enzymes increase due to muscle breakdown—that require hospitalization. Ellia’s muscles deteriorate to the point where she loses most movement from the neck down and experiences intolerable pain as her body fights against itself. The doctors measure Ellia’s CK (muscle enzyme) level to gauge whether or not she is having an episode. A normal CK count is anywhere from 50 to 150. Ellia’s CK counts have reached as high as 600,000. Her muscle breakdown causes problems for her kidneys and often, she is at risk for multi-system organ failure when she has an episode. In addition to the extreme pain, Ellia often develops complications from the rhabdomyolysis while in the hospital. Her lack of movement makes her susceptible to secondary illnesses, such as pneumonia or bacterial infections which can quickly become life-threatening. When an episode has run its course, Ellia is often unable to stand or walk for weeks. Through physical therapy and time, she regains movement and recovers almost fully between episodes.
We are blessed to have a geneticist in Austin who is one of the only doctors in the US familiar with Ellia’s condition. We also have the most incredible pediatrician in the world, Anna, who advocates for Ellia as if she were her own daughter. Ellia’s protocol requires her to be hospitalized where she will have immediate access to a Pediatric Intensive Care Unit. If she experiences a high fever, leg pain, no appetite or lethargy, she is hospitalized and immediately started on fluids. There is no treatment or cure and prognosis is unknown. However, we stand continually amazed and grateful at the wonderful care she receives at Scott and White and the mercy of God in protecting her body and bringing her through great difficulty over and over.