SALT LAKE CITY, Utah (Ivanhoe Newswire) — Alexandra Cordova is a spirited young artist battling a mitochondrial disease. She is slowly losing the ability to see, hear, walk and talk … but her art speaks for itself … showing her remarkable ability to adapt to a life marked by numerous challenges. Research
Within the frames of Alexandra Cordova’s artwork is the tale of a determined spirit and beautiful soul. As a child she loved the simplicity of straight lines and geometric shapes.
Victoria Cordova, Alexandra’s mother says, “And as her tremor got worse the lines shortened and then became a bit wiggly.”
Victoria says Alexandra was a typical developing child until fourth grade when she started to fall behind in class. It marked the beginning of her cognitive decline, and a life filled with unexpected challenges as her body began succumbing to a mitochondrial disease called Kearns-Sayer Syndrome.
Russell Butterfield, MD, PhD, Pediatric Neurologist at University of Utah, Primary Children’s Hospital says, “She has hearing loss, she has vision loss, she has cardiac arrythmia, she has diabetes.”
“You can see that the tremors gotten worse because of these tiny little swirls turn into this itty-bitty movement.” Victoria says.
Alexandra says, “One thing I do right now is my puzzle pieces because that’s easier for me.”
Now at 16 years old, the disease has, and will continue to progress, but Alexandra’s spirit to create remains strong. She now sells her artwork to raise money for mitochondrial disease research.
Doctor Butterfield says, “Despite what’s going on in her life medically she continues to be extraordinary.”
Victoria says, “She’s amazing, she’s the most positive person and everybody who meets her is like, ‘wow, she’s a light.’”
At a recent gallery stroll Alexandra sold all 33 pieces of artwork! She donated every penny, four thousand dollars, to support mitochondrial disease research and awareness.
Contributors to this news report include: Jessica Sanchez, Producer; Roque Correa, Editor and Kirk Manson, Videographer.
ALEXANDRA’S ART FUNDS RESEARCH
BACKGROUND: Mitochondrial disease called Kearns-Sayre syndrome (KSS) is a rare neuromuscular condition that impacts the eyes and other parts of the body, including the heart. It happens due to a defect in the DNA of mitochondria, which helps produce most of the body’s energy. An estimated one to three people out of every 100,000 have the disease and develop symptoms before age 20. KSS worsens over time, leading to a range of health issues that often involve the eyes, heart, muscles, and cognition. KSS can affect both men and women. Usually, the genetic changes happen as a baby develops during pregnancy. Therefore, it can be passed down from mothers but may also occur without a family history. Researchers don’t know why the genetic change happens.
SYMPTOMS AND DIAGNOSIS: Early symptoms of KSS include difficulty seeing, especially in dark environments, due to damage to your retina, the light-sensitive tissue of your eye; drooping eyelids; weak or paralyzed eye muscles. Over time, the disease may cause blindness. KSS also causes a range of other symptoms, including deafness; difficulty thinking; heart defects due to blocked electrical signals; hormone abnormalities, including diabetes; excess protein in cerebrospinal fluid; lack of coordination, balance, or gait; and weakness in the arms or legs. It can be challenging to diagnose KSS because it involves many body systems. A doctor will review your medical history and symptoms; perform a physical exam; run other tests, including urine test, eye exam, hearing test, blood tests and spinal tap; and might refer you for genetic counseling and testing. They may also take a biopsy of the muscle tissue to look for ragged-red fibers which indicate abnormal muscle cells due to mitochondrial disease.
NEW THERAPEUTIC OPTION FOR MITOCHONDRIAL DISEASE: Researchers at Children’s Hospital of Philadelphia (CHOP) have discovered a molecule that may have therapeutic benefits for children with a life-threatening form of mitochondrial disease. One severe form of mitochondrial disease is caused by a variant in the F-Box and Leucine Rich Repeat Protein 4 (FBXL4) gene. At a microscopic level, this disorder disrupts the mitochondrial respiratory chain complex that converts oxygen and nutrients into energy, while also causing a buildup of lactic acid. The condition affects multiple systems in the body. Researchers looked at 12 potential drug candidates and tested their effectiveness in newly created models with FBXL4 gene pathogenic variants. “This study is truly the culmination of translating basic research into clinically relevant findings that represents an enormous breakthrough in understanding how we might be able to improve the health of these patients, along with the breadth of cellular effects that treatment may have,” said senior study author Marni Falk, MD, Professor of Pediatrics and Executive Director of the Mitochondrial Medicine Program at CHOP.
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