Thousands and thousands of miles away in Poland, a beautiful, sweet girl named Lenka suffers from GM1 Type 2. Lenka was born on August 18, 2004. Lenka’s early childhood proceeded normally and her sociable and bold personality emerged.
At the age of five, Lenka first developed what appeared to be insignificant symptoms. She often stumbled and fell more often than other children her age. A neurologist helped investigate the cause. The neurologist noticed a slight decrease in muscle tone in the legs and developmental coordination disorder called dyspraxia. The neurologist reassured her parents and told them not to worry . The doctor seemed unconcerned and commented that she might not become a ballerina.
Unfortunately, in spite of sensory integration therapy, hippotherapy, and swimming therapy, at the age of 7, new disturbing symptoms emerged. The array of symptoms included slurred speech, blurred drawings, stacking problems, leg pain, and problems with balance. After many medical tests and procedures, doctors misdiagnosed Lenka with “dyspraxia of unknown etiology.”
Finally, in 2012, Lenka’s parents continued their search for a true diagnosis, knowing in their hearts that something more insidious afflicted their sweet girl. After years of searching, Lenka was diagnosed with GM1 Gangliosidosis at the Children’s Health Center in Warsaw.
Unfortunately, Lenka’s diagnosis story is not unusual for a child diagnosed with GM1. The correct diagnosis is truly hard to find and can take many years to obtain. The prolonged time to diagnosis reduces the possibility of early intervention. Furthermore, there is no treatment for Lenka or any other person afflicted by GM1 Gangliosidosis. All the interventions are only intended to increase quality of life for comfort only. The disease ravages the central nervous system and the body.
The hope for Lenka and all those affected by this cruel disease is medical research. As a result, Lenka’s family recently contributed a $5000 donation to the Cure GM1 Foundation to the gene therapy program. The Cure GM1 Foundation thanks Lenka and her family for their generosity and support. Together we can make a difference even when we are worlds apart.