According to a story from statnews.com, the family of 46 year old Tammy Stewart has been plagued by Huntington’s disease, an ultimately fatal, progressive, degenerative disease that causes decades of suffering and is easily passed down genetically in families. Her father and older sister were both killed by it. Her second bedroom belongs to her 60 year old brother named Mike, who is currently affected. He can barely move or speak, spends most of his time in bed or in a recliner, and is totally dependent on Tammy.
About Huntington’s Disease
Huntington’s disease is a heritable disorder that causes brain cells to die. This is a long term, progressive, and ultimately lethal disease that causes severe debilitation over time. The disease is caused by a genetic mutation that affects the HTT gene. It normally appears between 30 and 50 years, but in rare cases it can occur before age 20. Symptoms of Huntington’s may first appear as subtle mood and behavioral changes and loss of coordination. Other symptoms include random movements called chorea, abnormal posture, sleep issues, trouble chewing, swallowing, and speaking, dementia, anxiety, depression, and impulsivity. Nine percent of deaths are the result of suicide. Treatment for Huntington’s disease is symptomatic, with no cure or disease altering therapies available. Most patients die around 15 to 20 years after their diagnosis. To learn more about Huntington’s disease, click here.
Desperate for Treatment
Tammy is also beginning to show symptoms, such as tremors and sudden mood swings. However, there is hope for her as she is one of 800 patients participating in a late stage drug trial for the illness. The therapy has the potential to halt or at least slow the progression of the disease. Unfortunately, many patients that attempted to participate were turned away as slots filled. Others were too far from trial sites, too overweight, didn’t fit the age range, had too many other health issues, or had seen too much disease progression.
These admission criteria can feel restrictive, and at times excessively strict criteria can harm the usefulness of trials because the trial patient population does not accurately reflect real-world circumstances. However, most of the time, criteria are important for allowing researchers to assess a drug’s impact as clearly as possible. Roche, the drug developer, says that the constraints are designed to represent the vast majority of patients.
Ultimately, facing Huntington’s disease is a painful and difficult experience, but with a clinical trial running, patients can at least have a sliver of hope that treatment might become available before its too late.