Some might call Judy Kahl a mystery. She had a disease that had no name, and wouldn’t for decades.

Kahl, of Mars, was born with a genetic disorder called Usher Syndrome — a rare genetic disease that she has dedicated much of her life toward furthering research into. According to the National Eye Institute, Usher Syndrome is a disease with no cure that can cause loss of vision and hearing, ranging from minimal to complete deafness, and is brought about by a change in genes.

“It attacks not only my vision, but my hearing as well,” Kahl said. “There are several types, but my type is where hearing loss shows up in early childhood and the vision loss shows up in early adulthood. That’s exactly what happened to me.”

Kahl said that not being able to see has been hard. It’s a loss that is difficult to put into words and makes even mundane tasks a struggle. But she refuses to dwell on it or let her circumstances define her, which is why she is adamant about raising money and spreading awareness.

Besides hearing loss and loss of sight, another main indication of the disorder is a lack of balance.

There are several types and subtypes of the disease, according to Johns Hopkins Medicine. Kahl has Type II, but other iterations of Usher Syndrome can cause loss of hearing and vision even earlier in life.

“Nobody knew I had this disease because there was no name to this disease yet,” Kahl said. “When the hearing loss showed up, I was misdiagnosed. They thought it was due to a bad case of German measles.

“There was nothing that could be done. I was fitted with a hearing aid and also sent to a speech therapist because I could not hear the consonant sounds.”

Kahl went on to live her life by going to college and becoming an elementary teacher with a minor in music. But it was not until after she was married and her first child was born — when she was living in Germany during the Vietnam War — that she got an official diagnosis for her vision, retinitis pigmentosa, a degenerative eye disease.

Still, no connection to Usher Syndrome, and there would not be until she was 62 years old. By then, Kahl was close to being completely deaf, so she got cochlear implants around 2007, which help with the profound hearing loss.

“When I got my hearing back and I heard better than I ever had in my life, it really was a first miracle,” Kahl said. “I figured, if I can hear and I can talk, I’m going to work hard for a second miracle. Not only for myself, but for the millions of Americans that have vision losses and that affect newborns to senior citizens.”

Since getting the cochlear implants, Kahl has spent much of her time helping to raise awareness and funds through the Foundation Fighting Blindness.

Last month, in a tradition started in place of Kahl’s own birthday celebration, the foundation had a luncheon at the Butler Country Club to help raise money for continued research. Kahl said the funding is critical because it pays for the research, and without that, finding a cure would not be possible.

“It’s not easy to lose your sight,” Kahl said. “It's a very cruel disease because we’re being robbed of sight — and we know how precious our sight is. It gives me a real purpose in life if I can help anybody at all.”

Over a year ago, Sharon Chernick saw a television interview with Kahl and learned that they both suffer from the same eye disease. Since then, the two have become friends, and Chernick volunteers for the foundation.

Chernick was diagnosed with the disorder when she was 38 years old, but it did not begin to significantly impact her until she was in her 50s. Now in her 70s, she can only make out lights and shadows. She said she is thankful for people like Kahl, who are committed to the cause of raising money and awareness.

“I love her to pieces,” Chernick said. “She is so positive, and nothing seems to get her down. She’s one of these people that just attracts people.”

Even though Kahl misses her vision and is waiting for another miracle in the form of a cure, she does not take one moment or one day for granted. Even though she can’t watch television or see her grandchildren, she uses her story to draw awareness and encourages other people to get involved with the Foundation Fighting Blindness, because anyone can lose their vision.

“Imagine your life without sight,” Kahl said. “You’re at a beautiful event and you can no longer see the beautiful decorations or the people in the room or your friends.

“You’re at home, and you realize the easiest thing is the most impossible,” Kahl continued. “The phone rings. Where is the phone? You want to set the table but you have got to find all of that. If you have to go to the restroom, it’s a challenge. It really is extremely difficult to depend on someone for everything. I want people to realize this is an important mission to help.”

The next fundraising event is April 9. To learn more, volunteer or sponsor, call Kahl at 724-272-4475 or the Blind Association of Butler and Armstrong at 724-287-4059.

Kahl’s next Christmas-time event will be held Dec. 4.