February Feature: Nebraska's Little Giant- Emily Koesters

I love the color pink, animals, especially the cheetah because it is fast, and everything nature. When I get older I want to be a singer by day and a cop by night.  My parents have always told me I can do and be whatever I want to be even though I might have challenges along the way.  The odds may be stacked against me, but I have defied them all so far and believe one day the researchers will get the much needed money to find a treatment for me and other children with Schimke.

My name is Emily and I was diagnosed with Schimke Immuno-osseous Dysplasia or SIOD—a complicated medical term for one of the rarest forms of Dwarfism.I am proportioned and stand 41 inches tall at twelve years of age.  My condition is so rare that I am only one of four others in the United States who have been diagnosed with Schimke, and one of only 45 across the world. It’s believed that many more children may have Schimke but the journey to a diagnosis can take years and most lose their battle from the symptoms of kidney failure or stroke before they’ve been accurately diagnosed. Doctors in British Columbia, who have worked on their own time, money and resources, have cloned another patient’s genes and believe that Ataluren (originally developed for those with Muscular Dystrophy) could bypass the gene mutation for children with Schimke. This is a shovel-ready project that offers extraordinary promise — Little Giants Foundation (www.littlegiantsfoundation.blogspot.com) was formed to share this advancement with others and to assist with the $3 million dollars needed to complete the research and testing.

I am classified under the Spondyloepiphyseal dysplasia-  SED type of dwarfism, yet my rare genetic dwarfism disease suggests it is a type of SED all it’s own.  When I was four I had a kidney transplant from my dad only to have to begin a long fight for over two years against lymphoma cancer.  I have had 48 surgeries over the past seven years from minor to very major issues, but I keep fighting. I have had to relearn how to walk three times and to relearn to talk and function twice.  I get around the house okay most of the time, but I need to use forearm crutches and a wheelchair depending on the distance and the discomfort in my back from a curved lower back.  

Join our fight! Together, we can do something extraordinary.