Running to remember Erin Roberts
In 2004, a girl in a wheelchair with her signature smile, famous for brightening people’s days, crossed the finish line of the Hanover Chamber of Commerce’s annual 5K road race. She was the one everybody was waiting for.
The race was held in her honor to help raise funds for the disease that was taking her life, but not her spirit. She died that December at the young age of 24 to Niemann-Pick Disease. But her memory still lives on. Seven years later, the race is still held in honor of Erin Roberts, the girl with the beautiful smile.
This year’s Hanover Chamber of Commerce 5K road race is being held Saturday, June 25. Although it is still in memory of Erin and some of the raised funds are going to the Niemann-Pick Disease Foundation, other charities the Chamber of Commerce sponsors will also share in the proceeds this year.
Erin’s parents said they believe Erin would have liked it this way.
“Erin always loved to share,” her mother, Holly Roberts, said.
In the spring of 2004, chamber representatives called the Roberts to ask if they could hold the road race in honor of Erin, who was still battling the disease at the time. The Roberts agreed, thinking it was an excellent idea.
Holly and Michael Roberts still walk in the race every year, wearing T-shirts with their daughter’s picture. They participate in the race to help raise funds for the Niemann-Pick Disease Foundation, but more importantly, to raise awareness about the disease.
Although Erin displayed symptoms of the disease in second grade, it wasn’t until she was 17 when doctors were able to finally diagnosis her with Niemann-Pick. Awareness about the disease has increased since the 1990s, but it is still relatively unknown.
“So many families wouldn’t think to look at it,” Michael said.
The Roberts first heard about the disease in People Magazine, about a year and a half before Erin was diagnosed with it. The article was about former Notre Dame University football coach Ara Parseghian and three of his grandchildren who had the disease. The Roberts remember reading the article and thinking many of the symptoms corresponded with their daughter’s symptoms.
As well as an increased awareness about the disease, more research has been done since Erin first began showing symptoms. Research is being done about the disease as well as research into treatments and finding a cure. A recent advancement is a medication that slows the process down. The medication is not available in the United States and is not a cure, since it only delays the symptoms.
Niemann Pick Disease - News
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Franchesca Polo, 14, of Brooklyn, NY – Franchesca was diagnosed with Niemann-Pick disease type B, a progressive disease that impacts her liver, spleen and lungs. Morgen Rhynes, 11, and Meadow Rhynes, 8, of Providence Village, TX – The sisters underwent
Niemann-Pick Disease
Niemann-Pick Disease is a medical hereditary disorder, where a specific enzyme deficiency causes a product of fat sphingomyelin metabolism accumulation. The gene responsible for this disorder is recessive, which means that children with Niemann-Pick disease have inherited an abnormal gene from both parents.
The disorder has 5 or more forms depending on the enzyme deficiency severity. The enzyme is entirely absent in severe juvenile form. Serious abnormalities of the nervous system progress because the nerve can not use a product of fat metabolism-sphingomyelin to produce myelin, which is necessary for the myelin sheath that is usually surrounding many nerves.
Children with Niemann-Pick disease progress fatty skin growths, enlarged lymph nodes, spleen and liver, and parts of dark pigmintation; he or she can be mentally retarded. This child usually has low numbers of platelets and white blood cells and anemia , making him or her susceptible to easy bruising and infection. Certain forms of the disease may be diagnosed in the fetus by amniocentesis and villus sampling. After birth, Niemann-Pick disease may be diagnosed by obtaining liver biopsy.
The disease may not be cured, and the child tends to die of central nervous system progressive dysfunction or infections.
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Niemann–Pick disease (pronounced nē′mahn pik) refers to a group of fatal inherited ... Niemann-Pick disease has an autosomal recessive pattern of inheritance. ...
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Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. ...