Local Family Wants To Educate About Deadly Rare Disease
Johnson looks feeble, too weak to stand. “Why did it have to be me?” she asked before breaking down in tears. That’s a question these families have asked for years. They said when some of their relatives passed away, typically before their 50th birthday, their conditions were misdiagnosed as muscular dystrophy. But now, through tests and meeting with medical experts, they believe all died from Machado-Joseph disease, or spinocerebellar ataxia. “The community needs to know what we didn’t know for generations,” said Kelvin Moss, 31, the girls basketball coach at Middletown High School who has lost a grandmother, mother, two aunts and an uncle to the disease. Family members gathered Thursday night and they had difficulty remembering the relatives who died from the disease. Joseph Webb died in 1943 at the age of 46, though it’s unclear whether he had the disease, they said.
His daughter, Gaynelle Webb, 54, died in 1972, the same year the first person is known to have died from MJD, according to news reports. Her death was followed by three of her children: Tot Moss, Raymond Moss Sr., and Edward Johnson. Three of the Moss girls, Sherry, Debra and Anita died from the disease and the deaths of Debra and Anita were separated by one month in 2007. Karen Sims died in 2003 and Raymond Moss Jr. died four years ago. Aaron Sims, who showed signs of the disease when he was 18, his senior year at MHS, died on Nov. 8. His visitation was held Saturday. Funerals have been a common occurrence for these two families. “We are tired of it,” said Roxanne Carter, a close family friend. “We can’t accept that anymore.” Because of its rarity not many people know about MJD. There is no MJD Awareness Month.
More than 20 of the family members gathered Thursday night in a Middletown home to discuss their next step. They’re planning fundraisers and awareness campaigns. They’re hoping to limit the number of families who have to watch a relative progress from being perfectly healthy to someone who requires around-the-clock care. It’s a slow, painful process, they said. Machado-Joseph disease is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait, difficulty with speech and swallowing, and impaired eye movements, according to the National Institute of Neurological Disorders and Stroke. Those affected by the progressive disease typically live into their mid-30s, while those with more mild form can have a nearly normal life expectancy, the institute said. Any child of an affected parent has a 50-percent chance of inheriting the disease gene. A child who does not inherit the gene will not develop the disease and can not pass it on to the next generation.
Darlena Philpot, 54, said she was tested for the disease and the results came back negative. She doesn’t possess the gene, or if she does, it’s dormant. Testing can cost up to $20,000, she said. Her test, not quite as extensive, cost $6,000. When she met with her doctor, and relayed the family’s medical history, his reaction was understandable. “How many people?” he asked. The possibility of receiving a death sentence weighs heavily on the family. As Moss said: “It’s getting close to home. I live in fear every day.” Others sitting in the living nodded their heads in agreement.
Ariel Sims, 32, has lost a great-grandmother, grandfather, mother and brother to the disease. “It’s a terrible disease that affects so many people that you love and hold close to your heart,” she said. So far, Sims has been one of the fortunate ones, if you call losing four relatives lucky. She is thankful, yet cautious at the same time. “This is a reality,” she said. “This is all that we have seen; all that we have known. God has spared me. My purpose I guess was to be there for my mother and brother. I was brought here to help them.” As Sims talked, another box of tissues was passed around the room. Few families have cried more than these two over the years. All because of the same disease. “We have lost too many,” Philpot said. “We need to get the information out there. It’s our reality. This is what it is.”
They were asked what lessons they have learned from the disease. Anedra Million, 41, was the first to answer. She has leaned heavily on her faith. “There has to be a purpose,” she said. “God will reveal Himself. He only chooses the best, the strongest. You have to live every day like it could be your last. Go hard. Walk in excellence.” Philpot looked around the room at all her relatives, all the tear-stained faces, all the broken hearts. She knows it will take a team and time to spread word about the disease. She’s confident her family is ready for that battle. “Family is so important,” she said. “Family is all we have. That’s our roots. That’s who we are.”