Hegins woman doesn't let rare disease stop her from doing things she enjoys
HEGINS - As she was growing up, Angie Lucas said her family just thought she was ignoring them.
It wasn't until her kindergarten teacher, Peggy Leitzel, suggested that she may have a hearing problem that she finally was tested and determined to be deaf.
Today, at 39, Lucas has also discovered there may be a connection between her hearing loss and her ongoing deteriorating vision. This summer, she found out she may be battling a condition called Usher syndrome.
"We finally got a name for it and a prognosis of what to expect," she said.
"I always lived, and still do, with the attitude, it's not going to control me or stop me from doing the things I enjoy."
According to the National Institutes of Health website, www.ushersyndrome.nih.gov, Usher syndrome is the "most common condition that affects both hearing and vision." Currently, there is no known cure.
"The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP," the site states. "Retinitis pigmentosa causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As retinitis pigmentosa progresses, the field of vision narrows, a condition known as 'tunnel vision,' until only central vision (the ability to see straight ahead) remains. Many people with Usher syndrome also have severe balance problems."
"If somebody is standing beside me, or just comes up and I don't know it, I do not see them," said Lucas. She can hear most sounds with a hearing aide and also reads lips, but has difficulty detecting higher pitches.
For the past 12 years, she's been seeking medical attention in Pottsville for her failing vision. In dim light, she can see very little and it was discovered that the vessels in the back of her eyes were leaking. She also sought optometry specialists in Geisinger this summer. Trying to reduce the fluid build-up, doctors used a needle to inject Avastin into one of her eyes. Unfortunately, the effort did not reduce the fluid, she said.
In July, Lucas traveled to Johns Hopkins Hospital, Baltimore, Md., to seek additional guidance and was under the care of ophthalmologist Dr. Hendrik Peter Scholl, one of the country's leading specialists for RP and genetic testing, she said. It was there that she learned of the possible hearing-sight-loss connection. When she went back in October, Lucas had her blood drawn for genetic testing, and underwent a series of vision tests.
"I've had the eye pressure, electroretinogram and visual field testing. I've had the fluorescence testing done without the dye - I get sick from it. That's when they can see the fluid in the back of the eye and check blood vessels, too."
A graph following the tests plotted what Lucas is actually able to see and compared it to someone with normal vision. Lucas' average score was in the teens, while a normal score would be between 30 and 40, she said. The tests also revealed that the signal going from Lucas's retina to her brain is "poor."
In January, Lucas has another appointment to return to Johns Hopkins, where she and her husband, Doug, are expected to find out the results of the genetic testing. Although there is currently no cure for Usher syndrome, Lucas said, gene therapy may be available to put the vision loss in remission, or possibly even reverse it. That's all dependent on the type of gene mutation that is discovered following her bloodwork, she said.
"At this point, we feel she doesn't have anything to lose, and would probably take part in a trial, if one's available. The doctors insinuated that with her vision, that hole is going to get smaller and smaller," said Doug.
According to the NIH, approximately 3 percent to 6 percent of all children who are deaf and another 3 percent to 6 percent of children who are hard-of-hearing have Usher syndrome. In developed countries such as the United States, about four in every 100,000 births have it.
According to the NIH website, Usher syndrome is inherited as an autosomal recessive trait. Autosomal means the mutated gene is not located on either of the chromosomes that determine a person's sex; in other words, both males and females can have the disorder and can pass along the disorder to a child.
Recessive means that to have Usher syndrome, an individual must receive a mutated form of the Usher syndrome gene from each parent. If a child has a mutation in one Usher syndrome gene but the other gene is normal, he or she is predicted to have normal vision and hearing. Individuals with a mutation in a gene that can cause an autosomal recessive disorder are called carriers, because they 'carry' the gene with a mutation but show no symptoms of the disorder. If both parents are carriers of a mutated gene for Usher syndrome, they will have a one-in-four chance of having a child with Usher syndrome with each birth.
Usually, parents who have normal hearing and vision do not know if they are carriers of an Usher syndrome gene mutation. Currently, it is not possible to determine whether an individual who does not have a family history of Usher syndrome is a carrier.
Neither of Lucas' parents - Alyce Leitzel, Hegins, and Richard Rothermel Sr., Klingerstown - show symptoms of the disease.
In sharing her story, Angie hopes to help others.
"I want people to have an awareness of it," she said. Added Doug, "We want kids to get (their hearing and vision) tested earlier. Maybe the younger they are, the easier it will be."
Angie has found ways to deal with her visual and hearing deficits for years, and hasn't always listened to the nay-sayers.
"My balance is affected. I do lose it easily. I remember being told that doctors said I wouldn't be able to ski because of it, due to needing balance to do it. I skied for about 20 years. That ended from a severe ankle injury back in 2001," she said.
Having the illness has not curbed Lucas' zest for life, although she admits she did have to put her motorcycle driving to an end, because she just didn't feel comfortable driving anymore.
Abby and Maggie
For the past three years, Lucas has written a blog, featuring her two, cocker spaniels, Abby, 4, and Maggie, 2, at www.abbyspotlight.blogspot.com.
On the website, October entries detail Lucas's experiences at Johns Hopkins, from the dogs' perspective. It shows a bit of Lucas' sense of humor, while facing the unknown. Her canine companions are an integral part of her life, she said. Lucas and Abby recently underwent 24 weeks of training, and three courses at Pet Smart in Lebanon. Abby passed her "Canine Good Citizen" test. Lucas said she may continue future training with her dog, so Abby can eventually become a therapy dog.
Lucas also enjoys making survival bracelets, which are woven out of paracord, the nylon rope used for parachutes. She attends several craft shows a year, including those in Hegins, Gratz, Knoebels Grove Amusement Resort and Watkins Glen, N.Y., and operates a website, abbysurvivalbracelets.com, where she sells her creations.
When she's not crafting or training with her dogs, Lucas enjoys going to concerts and traveling. She's been to the Country Music Association music festival in Nashville, Tenn., several times. In June, she and her husband visited Las Vegas. Despite her hearing and vision deficits, Lucas prefers to stay on the move.
"I try not to let it bother me. I know there are some places, like in an airport or a casino where I'll have to really watch. I do walk into people all the time, but I just learn to take my time and I do limit night time driving, of course."
Lucas works as a cook at Williams Valley High School in Tower City. Her husband designs forging tooling at Keystone Forging in Northumberland.
"Another hobby I have is during the holiday season. I decorate my house for Christmas," she said. "I wasn't going to do it this year, but I changed my mind. I'll have my display up again."
The lights are up for all to see.