Golfing For a Cure
When Jeff Alcorn teed off at the first hole bright and early August 30, he wasn’t starting his usual day as assistant pro at Bent Brook Golf Club. He was beginning a day-long marathon of golf to increase awareness of Huntington’s Disease and raise research funds to find a treatment.
Like others who have tested positive for the gene, Alcorn is playing a waiting game. Unless a cure or treatment is found, he knows that like his father, he will eventually begin to show signs of Huntington’s Disease.
“I’m donating the money I raised to a lab at UAB that’s working on mouse models looking for a treatment,” Alcorn said. “Next year, I’d like to do more—perhaps a tournament. Huntington’s is a relatively rare disorder, so you don’t hear much about it. But when it’s in your family, you know how important it is to get the word out and support research.”
Victor Sung, MD is a UAB neurologist who has a particular interest in Huntington’s Disease.
“The gene is autosomal dominant. If you are carrying it, there is a 100% chance you will eventually get Huntington’s Disease,” Sung said. “You may be asymptomatic, but if you live long enough, you will begin to get the symptoms. On the up side, we 100% know the cause of the disease. That makes targeting research at Huntington’s much more focused than something like cancer, where we don’t really know all the factors involved in causing the problem.”
Huntington’s was the first gene identified, and the Human Genome project grew out of it. Sung pointed out that the early groundwork for this breakthrough has a Birmingham connection.
“There’s an area in Venezuela where half the people living there have the gene for Huntington’s Disease. In the late 80s and early 90s, a team of researchers went there to draw thousands of blood samples from those affected by the disease. Three members of that team are now working at UAB. The samples they gathered were compared with the genes of normal subjects. That led to identification of the gene involved, and it showed that gene sequencing was feasible. This was the first step toward the Human Genome project, and what we have learned from that is fundamentally changing medicine and will save thousands of lives.”
Sung would like to see patients with Huntington’s among those saved.
“The problem with this gene is that it repeats and repeats—sometimes as many as 42 times,” Sung said. “The DNA codes for an abnormal protein that seems to have toxic side effects on the brain, nervous system and other parts of the body. This causes progressive problems with movement and emotional and cognitive decline.”
How severe the symptoms become and how soon they begin may depend on how many copies of the gene sequence an individual has. The more copies there are, the more severe the symptoms and the earlier the onset is likely to be.
“The average age of onset is 30 to 45, with an average life expectancy of 20 to 30 years after symptoms begin. Patients may live a near normal life span, but the quality of life in those years is severely affected,” Sung said.
“The first drug to treat symptoms of Huntington’s was approved in 2008, and there are some drugs that can be used off list to treat symptoms as they develop. Current research is focused on finding a treatment to stop Huntington’s in its tracks, and perhaps prevent symptoms from developing,” Sung said. “There are at least five or six approaches going on in labs worldwide that are showing a lot of promise. One approach blocks the protein, and another targets the DNA to keep it from being expressed. There is a technology that is expected to be ready for human trials late next year that will use an infusion pump to maintain a steady flow of medication to block the effects of the protein. It’s an exciting time for those of us who work with Huntington’s patients.”
A consideration for those related to people who have Huntington’s is whether to be tested to see if they carry the gene. Symptoms often appear after people have had children. Knowing in advance would allow couples to consider in vitro fertilization to avoid passing the gene on to their offspring.
“Testing isn’t something we recommend that people do without careful consideration and counseling,” Sung said. “If a parent doesn’t want to know and a son tests positive, that would mean the parent has it, too. What if, in spite of medical privacy laws, a life insurance company, health insurance or an employer learns you have the gene? Would you yourself be able to handle the emotional impact of knowing?”
Alcorn said he chose to be tested for the sake of his family. “I wanted to give my sons full disclosure. For now, we want our kids to be able to just be kids. When they turn 18, they’ll have the information they need to decide for themselves whether to be tested.”
With more golf fund raisers and more research, perhaps, by the time the next generation turns 18, there will be a treatment for Huntington’s so that decision will be much easier to make.
