When Charley Seckler was 3 years old, everyone seemed to notice his big, strong calves. People always said, Charley, youre gonna be a soccer player, his mom, Tracy Seckler, tells PEOPLE. But when Charleys pediatrician said he might have muscular dystrophy, Tracy began to connect the dots. The concerned mother went online and saw videos of other kids who had her sons same big calves, and they were all using their hands to push themselves off the floor just like her son did. She knew instantly that Charley hadDuchenne muscular dystrophy (DMD). Duchenne is a rare, progressive, degenerative disease affecting about 1 in 3,500 boys, according to the Muscular Dystrophy Association (MDA). Children with the condition are born without the protein, dystrophin, which results in muscle degeneration. Eventually, they cant walk, feed themselves or breathe on their own. One of the symptoms is enlarged calf muscles because the muscle tissue is abnormal and may contain scar tissue, according to the MDA. Until recently, boys with DMD usually didnt survive beyond their teen years. Life expectancy is increasing and survival into the early 30s is becoming more common. Tracy and Charley SecklerCourtesy Tracy SecklerAt the time Charley was diagnosed, Tracy who … Continue reading →

The chemical structure of a drug can make the entire difference between a success and a failure in drug development. Of two drugs that used the same approach to treat Duchenne muscular dystrophy Exondys 51 (eteplirsen) and Kyndrisa (drisapersen) only one became approved. Researchers from The Ohio State Universityin Columbus now explain how and why the fate of the two seemingly similar drugs separated, in a review published in the journal Expert Opinion on Orphan Drugs. The review was titled Clinical trials of exon skipping in Duchenne muscular dystrophy. Sarepta Therapeutics approved Duchene treatment Exondys 51 is commonly referred to as exon skipping 51 therapy. It aims to correct the underlying genetic flaw in the dystrophin gene, causing Duchenne MD. While researchers know that people can have numerous different mutations that cause the disease, those affecting exon 51 are considered the largest group, present in about 13 percent of patients. A gene in this case that encodes for dystrophin is made up of regions that code for the protein, called exons, as well as noncoding sequences. What has been particularly difficult when developing gene therapies for Duchenne is the extremely large size of the dystrophin gene. With its 79 exons … Continue reading →

GENEVA In what has become a Labor Day weekend tradition, Geneva firefighters will again take part in the annual Fill the Boot campaign to support the Muscular Dystrophy Association (MDA). The Geneva firefighters, representing Local #2859 of the International Association of Firefighters, will collect money in boots to help children and adults with muscular dystrophy, amyotrophic lateral sclerosis (ALS, also known as Lou Gehrigs disease) and related muscle-debilitating diseases live longer and grow stronger. MDA officials said this years Labor Day weekend and Fill the Boot campaign has special meaning, as MDA is mourning the recent passing of longtime national chairman Jerry Lewis, a stalwart of Labor Day weekend MDA telethons. Continuing a more than 60-year tradition, Geneva firefighters will hit the streets with boots in hand, asking motorists, pedestrians and other passersby to donate to MDA. They will be on the corner of North and Exchange streets starting at 10 a.m. Friday. We are thrilled to be working with the Geneva Firefighters IAFF Local #2859 for a Fill the Boot this year to help provide the funds needed to find treatments and cures for muscular dystrophy, ALS and related diseases that severely limit strength and mobility, said Maggie Thomas, … Continue reading →

Appeal for help: Thomas with wife Catherine Vagappan and James at the hospital. IPOH: The family of a teen suffering from a genetic disorder which causes progressive muscle degeneration and weakness is appealing to the public to help fund his treatment. James Edmund Thomas, 17, who suffers from Duchenne Muscular Dystrophy, has been bedridden in a hospital here for a month after suffering from pneumonia and pulmonary oedema (accumulation of fluid in the lungs) on July 23. James was in intensive care and required a tracheostomy (an opening through the neck) to help him breathe. The medical cost for his treatment was RM130,000. His father Thomas Arokiasamy, 50, has only paid RM80,000 from his savings and with the help of friends. The technician, who is the familys sole breadwinner, said he had no choice but to seek funds from well-wishers. Thomas said his son, who was in a coma at one point, was slowly recovering but could only be discharged if there was a ventilator and other medical equipment at home. He also needs someone to monitor and manage his daily needs. This long-term treatment for James would cost the family between RM65,000 to RM70,000. Although James had been suffering … Continue reading →