|
The Cartys know all too well that retinitis pigmentosa (RP) is an inherited disease. The vision-robbing condition has been unusually pervasive across five generations of their family. Patty Nobes is the eldest of four adult Carty siblings. Younger generations of the Carty family are now being diagnosed with RP. Two of Patty's three children are affected. Retinal disease investigators are usually challenged by a lack of information on family history for many retinal diseases, but even these experts were overwhelmed by the amount of data they were getting from the Carty clan. The family has been under the care of physicians at both Bascom Palmer in Miami and the University of Pennsylvania in Philadelphia. The Cartys have an autosomal dominant form of RP meaning that the disease is passed down from one parent, and each child has a 50 percent chance of being affected. The fact that far more than half of the family members are affected is simply dubious luck on top of the genetic misfortune that brought RP in the first place. Investigators have determined that the Cartys' RP has been caused by a variation in a gene called RP1. Several Foundation-funded researchers are investigating a variety of treatment approaches for RP1-related disease. Originally from Northern Vermont, many Carty family members now live in various locales along the East Coast - from New York to Florida. Despite the distance, they remain well-connected. "We've always been close," says Patty. "My mom's stroke last Thanksgiving has made us even closer. Some days we are on the phone two or three times with each other." They also deal with RP as a family, and are literally taking the disease in stride. Patty and each of her siblings are very active in the Foundation's national VISIONWALK program to raise money for research. Bill Carty, a National Trustee of the Foundation since 2004, led his team, Brutus' Blazers, in the 2006 Northern Virginia walk, and is getting his team together for the 2007 event on June 3. Sally VanBuskirk is President of the Foundation's Ft. Myers/Naples Chapter, and was Team Captain of VanBuskirk Visionaries in the Ft. Myers/Naples walk in 2007. Mary Shambaugh was a member of Carty's Krusty Crew in the 2006 Atlanta walk. Patty's daughter, Debi Schultz, of Reno, Nevada, also affected by RP, is traveling to San Francisco on June 3 to participate in that area's walk. And Patty is busy preparing for the walk in Albany, New York, on September 23. "I'm really looking forward to it. Everyone else has done one. Now it is my turn," says Patty. "We are the kind of people who like to jump in and help. It is extremely important to our family, and other families, that the research goes forward. Our children are affected, and now they have children who may get RP." |
She has RP as do her brother Bill Carty and sister Mary Shambaugh. Their mother, Lillian Carty, has RP and comes from a family of eight siblings, six of whom developed the disease. Patty's grandmother, Clara Hammond, had RP and came from a family of 14 children, many of whom had lost vision to the condition. Patty says they have traced RP as far back as her maternal great grandfather.