Three brothers from Dubbo with a rare brain disease say they’ve been overwhelmed by the support they’ve received since opening up about their health battles.
Jesse, Ernie and Trevor Tink, familiar faces in the city’s sporting circles, only recently publicly revealed they were suffering from atypical PKAN.
Trevor said the support they had received from the community since sharing their story had been “brilliant”.
On Saturday the Castlereagh Hotel Clydesdales social club is hosting a charity bowls day at Sporties to help the family with the cost of a trip to the United States to visit a leading specialist.
All three Tink boys will be there and the club is inviting people to come along.
Registration and breakfast will be from 9am with bowls to start at 10am.
WHAT IS PKAN?
PKAN or Pantothenate Kinase-Associated Neurodegeneration, is the most common form of NBIA.
Between 35 and 50 percent of the NBIA population has PKAN.
It is caused by mutations in the PANK2 gene. This gene provides the instruction for making an enzyme called pantothenate kinase. Researchers are investigating how this missing enzyme damages nerve cells in the brain and causes iron to build up.
There are two forms of PKAN: classic and atypical, although some people have symptoms that place them in between the two categories.
The atypical form of PKAN, which the Tink brothers have, usually occurs after age 10 and within the first three decades of life. The average age for developing symptoms is 13. The disease progresses more slowly than classic PKAN and generally is less severe.
The symptoms vary from case to case and are more different than those of early-onset disease. The inability to walk typically occurs 15 to 40 years after symptoms develop. Speech is affected early on. Common speech problems are repeating words or phrases (palilalia), rapid speech (tachylalia) and slurring words (dysarthria).
Psychiatric symptoms are more commonly observed in atypical PKAN and can include impulsive behavior, violent outbursts, depression and rapid mood swings.
Movement problems are common, although they develop later. Patients often are described as having been clumsy in childhood and adolescence. Similar to Parkinson’s disease, “freezing” while walking may occur, especially when turning a corner or encountering surface variations. Shaking or tremors also have been reported.