SALEM - When Mike and Kim Hoffman of Salem learned their daughter Olivia had a rare, degenerative retinal disease which eventually causes blindness, they knew little about it.
Their doctors didn't know much either, but they and other families struggling with LCA-CRB1 want to change both that and the prognosis.
They've bonded together to raise awareness and raise funds for research through a volunteer parent-formed organization known as the Curing Retinal Blindness Foundation.
Kim said the worst part of the diagnosis is the unknown. They don't know to what extent 7-year-old Olivia's eyesight will be lost or how long it will take to deteriorate. As far as she knows, no one else in the area has the disease.
"We can't do anything. We can't take her anywhere. There's no medicine to give her," she said. "When I found this group, I finally felt like I had a direction."
During an examination, Kim said Dr. Carmela Abraham noticed something was wrong and referred them to a specialist in Boardman, who then referred them to Dr. Elias Traboulsi at the Cole Eye Institute in the Cleveland Clinic.
"He suspected right away that it was Leber's Congenital Amaurosis. He even knew what gene it was," she said.
There are 17 different genes that cause LCA, but the CRB1 gene is especially rare and little research has been done for that particular gene. Roughly 3,000 people are affected in the United States with LCA, with 10 to 13 percent of all cases due to the CRB1 gene. Olivia, who was diagnosed at age 4 1/2, is one of only 300 cases with the CRB1 gene.
Genetic testing of Olivia, Mike and Kim revealed that Mike and Kim each carried one mutated gene which was passed to Olivia, giving her two mutated genes. Their other children, Sarah and Sean, had a 25 percent chance of getting it, but didn't. Some families in the group have multiple siblings with LCA-CRB1.
Olivia can see with her glasses, but still has a visual impairment even when she's wearing them. She has trouble with distances and low light and is considered night blind. She has 20/60 vision in her right eye and 20/200 vision in her left eye, with 20/20 considered normal.
Those numbers will continue to go higher unless a fix is discovered through research. According to Kim, there has been some success with other genes through gene replacement therapy, but there's little research on CRB1.
So far, the disease hasn't caused a lot of problems in school for Olivia, a first grader at Buckeye Elementary, but she uses a magnifier to help when she's reading and her violin instructor writes her lessons on 11x17 paper in large print.
"We have to be real careful at night time. She has very limited, if any, vision at all," Mike said, noting they make sure some lights are on if she's up at night. Ironically, she sleeps with a mask over her eyes because of their sensitivity to light, Kim said.
The experience of dealing with LCA-CRB1 has proven frustrating at times for both the family and for Olivia when they're out and about and looking at something exciting and wanting her to be able to see what they're seeing. During a whale watching trip, they saw seals laying on the rocks and she couldn't see them. They take photographs so they can show her later what they saw.
In preparation for what may come, they've spoken with the school principal about visual aids she may need in the future.
In addition to the usual lessons for a first grader, Olivia has been introduced to Braille, which uses raised dots to represent letters, numbers and punctuation marks and can be read by touch by people with visual impairments or blindness. Kim did some checking for tutors and said the closest school is the Ohio School for the Blind in the Columbus area.
Since joining the Curing Retinal Blindness Foundation two months ago, they've found other families who share the same challenges as them and can talk to them about what they're going through.
Both Kim and Mike said it meant so much to them because "you just feel like you're not alone."
One of the people they've met, Kristin Smedley, of Philadelphia, Pa. founded the group and has two sons, ages 9 and 13, with the CRB1 gene mutation. Her daughter was not affected. She and her husband also found themselves frustrated having to watch their boys go from the soccer field to not being able to play. They both like riding bicycles, but now have to ride on tandem bikes with others.
Large foundations fight blindness, but she said what people may not realize is the gene affecting her children and Olivia is so rare, not as much attention is being placed on it when it comes to research.
"The clock is ticking on our kids," Smedley said.
Rather than wait around, they took action and pushed for collaboration to get the research moving forward on CRB1 by forming their group and focusing on fundraising to pay for research. She said there's one project going on in the Netherlands for gene replacement therapy which is almost ready for testing.
She explained it costs $200,000 to $300,000 for a three-year research project and the group has raised $165,000 by families having fundraisers since May 2011. One of the more popular fundraisers has been a bicycle event. There are other possibilities for research through pharmaceutical companies or cell research.
The group currently works through the D'Angelo Foundation, a private 501c3 organization located in Trevose, Pa., but Smedley said they're working to get their own 501c3 designation. The Curing Retinal Blindness Foundation added its 21st family this week and has two families in Europe.
Kim and Mike said they're planning to hold some type of fundraiser in the future for CRB1 and hope for support from the community. They're open to suggestions for a fundraiser and invite any businesses wanting to sponsor any kind of event to contact them via email at firstname.lastname@example.org. All money goes to the research - none goes to the families.
Kim also suggested people visit the group's website at www.crb1.org to read the family profiles and learn more about the mission of the foundation and the children the group is hoping to help. She also asked people to "like" the Curing Retinal Blindness Foundation Facebook page where Olivia has been featured.
Fighting back tears, Kim said, "One of my longterm goals, when she's 16, I'd like for her to be able to get her driver's license."
She said she would like to see the research be successful. With Olivia's present vision, she wouldn't be able to drive.
Donations can be made to the Curing Retinal Blindness Foundation online at www.thedangelofoundation.org/Curing_Retinal_Blindness_40.html or by sending a check made payable to Curing Retinal Blindness, c/o The D'Angelo Foundation, 4671 East Street Road, Trevose, Pa. 19053. CRB1 should be referenced on the memo line.
Mary Ann Greier can be reached at email@example.com