Home > Salud > Archives > Rare disorders category
Rare disorders
September 23, 2010
Georgetown mother, others remembering son lost to rare disorder Saturday
Linda Crawley lost her Longhorn-loving son Joe Thell to ataxia, a rare neurological disorder that causes a lack of muscle coordination and can affect speech, sight and hearing, in addition to movement. It can be fatal, especially if swallowing and respiratory complications develop.
Thell died two weeks before his 27th birthday, in November 2008.
To honor her son, raise money for research and spread awareness about ataxia — there are many types — Crawley is spearheading a day of events in Georgetown Saturday. All of the money raised will go to the National Ataxia Foundation, she said.
The Georgetown event, billed as the Second Annual Walk n’ Roll, coincides with the 11th Annual International Ataxia Awareness Day, Crawley said. It will be held at San Gabriel Park in Georgetown, with registration at 8 a.m. and the walk starting at 9.
Other activities at the park include a raffle, games, music, food and a silent auction.
Crawley said her main goal is to raise awareness. “I understand most people have not heard of ataxia,” she wrote in an e-mail.
Other members of Thell’s family have had the disorder, which he inherited, she said. “My Joe had, ‘Spinocerebellar Ataxia type 2.’ There are currently more than 30 genetic types, as well as non-hereditary, and other forms with uncertainty where it came from,” she wrote.
An estimated 150,000 Americans have the disorder, which has no specific treatment, according to Mayo Clinic.
Permalink | Comments (2) | Post your comment Categories: Rare disorders
January 22, 2010
Georgetown woman with Pompe disease grateful for 'Extraordinary Measures'
Karen Kacures has waited 15 years for today’s opening of Extraordinary Measures, a medical drama about a rare muscular disorder called Pompe disease.
It’s not because Kacures, who is 49 and lives half the year in Georgetown and half in St. Francis, Minn., has any film credits. She has Pompe disease. But it took various doctors most of 15 years from the time she started getting sick to figure out what was wrong. Kacures wasn’t diagnosed with Pompe until 2007, and she hopes the film starring Harrison Ford and Brendan Fraser will raise awareness and save others the long years she bounced from one doctor to the next, undiagnosed and with her symptoms worsening.
Kacures said she was in her early 30s, still enjoying outdoor hikes, when she noticed she had trouble breathing and climbing. Later, going up steps became a problem as her muscles weakened and her breathing worsened. With Pompe disease, a person has a genetic mutation that reduces or eliminates an important enzyme. Excessive amounts of glycogen, a complex sugar, accumulate in the body, impairing the functioning of the heart and muscles. The disease can be deadly, and in the movie, Fraser, who plays the real-life father of two affected children, is told they will die before reaching their teens.
“I had many teams of doctors looking in different directions,” Kacures said. She was misdiagnosed with everything from rheumatoid arthritis to asthma.
It wasn’t until a muscle biopsy at a Minnesota hospital showed the built-up glycogen that doctors made the diagnosis. A DNA test confirmed the mutation.
A drug to treat the disease, Myozome became available in 2006, but Kacures’ then-insurance company refused to cover it, she said. “It’s extremely expensive.”
For adults, the twice-monthly drug infusions can cost $300,000 a year, she said. Kacures said she enrolled in a study and started receiving the infusions through that program in 2008. She also now has insurance to cover the drug in the future. It has restored strength and stopped the progression of her disease.
Kacures said she is the only adult she knows in the Austin area with the disease. She also knows of two children.
She saw a sneak preview of the movie in Austin a few weeks ago, and while some of it is inaccurate — research was underway internationally long before Fraser’s character got involved and the enzyme replacement therapy is not a miracle cure — she thought it was good. (You can read more discussion about the movie here.)
“My goal is to try to educate medical people to look at this disease,” Kacures said, especially in people who have “breathing issues with muscle weakness. … That’s why it’s just wonderful this movie is coming out.”
Photo: Karen Kacures and her dog, Charlie
Permalink | Comments (2) | Post your comment Categories: Rare disorders
