The Foundation for Retinal Research newsletter, January 2007

FRRVisions
The newsletter for families and supporters of The Foundation for Retinal Research
JANUARY, 2007
Baseball star joins FRR team
Cubs first baseman Derrek Lee first announced the launch of Project 3000 in late September, there has been great excitement and a flurry of activity among doctors and scientists who care for patients with Leber Congenital Amaurosis. And, Lee’s 3-year-old daughter, Jada, who lost her vision in one eye and prompted the effort, is still getting mail, prayers and support. Someday, they hope to find a cure. Lee teamed up with Boston Celtics owner Wyc Grousbeck to create Project 3000, a foundation to fight LCA. The goal is to provide state-of-the-art genetic testing for every man, woman and child who has LCA. People are urged to contact Project 3000 for more information. “We have already had tremendous interest in this project from all over the world,” said Dr. Edwin Stone, a professor of ophthalmology at the University of Iowa Carver College of Medicine and the scientific director of Project 3000. “In the first day alone, the Project 3000 Web site received thousands of hits, and Cubs fans and Celtics fans began sending in support. ”For example, one fan, who lives in Japan, first met Lee more than 20 years ago when his father played baseball there. He put a Derrek Lee Cubs jersey up for auction and sent the proceeds to fund the research effort at the foundation.“She’s doing great,” Lee said on Monday of his daughter. “You would never know.”Lee and his wife, Christina, are able to deal with their daughter’s partial blindness better after meeting 9-year-old Alan Brint, who also has LCA.“They wondered how children who are blind function,” said David Brint, Alan’s father and the director of the Foundation of Retinal Research. “When they got to meet my son, you could see the light in their eyes. ”Young Alan is a talented pianist and has perfect pitch, said his father. The boy, who’s also a Cubs fan, can play whatever he hears.“[Alan] plays games, has a good sense of humor and he functions around the house,” said Brint, who lives in the Chicago area. “I’m not saying it’s easy -- it’s a lot of work and it’s scary. But I think it calmed [the Lees].“You start entering a world and learning what you can do,” Brint said. “You get enough help and say, ‘OK, I can do this.’ It takes a lot of therapy and help and love. ”The Lees admitted meeting Alan helped ease some of their fears.“You see someone else going through it and they’re fine,” Lee said. “It’s comforting to know it will be OK. ”Their fight continues to find a cure. Since Project 3000 was announced, Stone said that interest has been high among doctors who care for LCA patients. For example, Dr. John Kitchens, a retina specialist in Kentucky, has already organized his partners to help identify all of the patients in that state afflicted with LCA. Similarly, Dr. Richard Weleber and his staff at the Casey Eye Institute in Portland, Ore., are helping to design a patient questionnaire that will help the team identify patients with LCA from among the tens of thousands of patients who, for a number of other reasons, first experienced severe vision loss during their childhood. In the Carver Laboratory at the University of Iowa, several additional personnel have been hired and some new robotic instrumentation has been installed to help keep up with the increased number of genetic tests being ordered. “Working together, sports fans, professional athletes, patients, parents, doctors and research scientists are already making terrific progress in our understanding of LCA,” Stone said. “And with all this momentum, we are looking forward to even greater things in the coming year.” Lee is determined to do whatever he can, and may go with Brint to attend the Foundation for Fighting Blindness “Day of Science” event in Orlando, Fla., in January, when researchers gather to talk to constituents. There’s strength in numbers, Brint said, and Project 3000 is a huge step in finding people affected with LCA and getting them tested. “This project that [Lee’s] doing will have an enormous impact,” Brint said. “A lot of people had been misdiagnosed. There are eight, 10 different genes that can cause this. We want to find out people who have this diagnosis, and we want to do gene screening to find out which genes are involved. “This is a project we’ve been trying to do in modest ways for half a dozen years. This will make it happen in short order and the information will be enormously valuable.”


FAMILY TO FAMILY
Our role as parents is to give our children the tools needed to meet their full potential in life and be happy. The role of our children is to present us with challenges every step of the way! Most families have it pretty easy until the dreaded teenage years (ask any parent of a teenager), but as a parent of a child with LCA, we were faced with serious challenges from the beginning. When our son was diagnosed almost 10 years ago, we had just gotten our first email address and had just begun dabbling on the internet. (Hard to imagine that only 10 years ago most families didn’t have internet!) We tried searching for families in a similar situation as ours but had a tough time finding them. We hunted for researchers studying Leber’s, but found none. We needed to learn more about this strange thing called LCA but couldn’t find articles written in layman’s terms. Though the moral support we got from our family and friends was incredible; we needed more. The Foundation for Retinal Research began as a way to fund research for LCA but it has become much more. FRR now fills the gap that was so large ten years ago. Families are now able to immediately get information about LCA (written in a language they understand), they are able to connect with other families all over the world who are raising children with LCA, they are able to meet biannually at FRR sponsored conferences and, many are even able to find out the gene that has caused LCA in their child. Armed with these tools, we are able to face the challenges of raising a child with a visual impairment and involve our friends and family members through fundraising to help find out even more about this disorder known as Leber’s Congenital Amaurosis. The biggest problem now…dealing with our teenagers! Thank you all for adding to our support network. Together, we will help our children reach their full potential! David & Betsy Brint

ince Cubs first baseman Derrek Lee first announced the launch of Project 3000 in late September, there has been S

Hold a fundraiser for FRR
Soon, you will have little excuse NOT to host a “Walk-With-A-Vision” fundraiser for the Foundation for Retinal Research. The FRR leaders are about to launch new additions to the Foundation’s website (www.TFRR.org) that will allow anyone to host a “Walk-With-A-Vision” event in their hometown. The new website features will allow people in your specific community to log onto the site and register “online” to walk in the “Walk-With-A-Vision” or sponsor a walker. “The new feature will let someone who wants to walk in a “Walk-With-A-Vision” to sign up on our website, then send out emails to all their friends sending them back to the website to sign up to sponsor them in the “Walk-With-A-Vision,” said Amber Purpura, Director of Communications for FRR, and parent of Nicki, age 7 and an LCA patient. The new registration feature will allow walkers and sponsors to sign up and pledge their support, and it will also help to invoice the sponsors quickly and easily .“It takes a lot of the paperwork and the headache out of holding a “Walk-With-A-Vision” event,” Pupura said. “Someone can email 30 to 100 or more of their friends, family and co-workers to sign up to sponsor them, instead of calling or visiting.” The process to hold a “Walk-With-A-Vision” in your community is easier, too (see graphic below). The goal is to have 10 or more of the “Walk-With-A-Vision” events in 2007, Purpura said.Contact Purpura at FRR offices, or email her at amber@TFRR.org.

Here’s how to do you own ‘Walk-With-A-Vision’
STEP 1: Call Amber Purpura at FRR and get an event guide with complete instructions on how to hold your event, and get your personalized webpage set up to take pledges and donations, and to register walkers.
STEP 2: Pick a date and a location for your event
STEP 3: Email, call and contact as many of your family mem-bers, friends, co-workers, neighbors and acquaintances and ask them to sign up on the website to walk and/or pledge
STEP 4: Hold your event and raise money to fight LCA!


Betsy’s Corner
If you’re like me, you are always looking for better ways to help you blind or visually impaired child in the classroom. Amber Purpura and I came across this great article about how to best work with your child’s classroom aide. We’ve reprinted the gist of the article here. Enjoy! Helping or hovering? What is the effect of educational aides on students with visual impairments? An article published in Disability Solutions magazine says that sometimes when the role of the paraprofessional is unclear, they may actually be a barrier to student learning. It is helpful if the paraprofessional continually asks the following question while assisting a student: “Is this something a classmate, buddy, or peer tutor could be doing rather than me? Can this student be successful with less assistance overall?” Often parents will advocate for the presence of a full-time paraprofessional out of concern for their child’s success. It is important to discuss the role of the paraprofessional several times each year. If a student can be successful in the classroom once peer supports are developed, the role of the paraprofessional changes. For some students the paraprofessional will continue to be a necessity. However, their direct interaction with the student should lessen over time as natural supports and accommodations are developed and the student learns the new classroom routines. •Consider hiring and assigning assistants for a particular classroom versus an individual student. •Decide as a team (school staff, parents and student) when it is appropriate for an instructional assistant to provide close proximity support to a student and when to facilitate natural support from the environment, other adults and peers. •Provide information and awareness training to school staff, teachers and parents on the effects of adult proximity on students with disabilities. •Give instructional assistants training and information on how to fade prompts and supports and facilitate the students’ use of independent skills and natural supports in the environment. •Teachers and administrative staff should provide ongoing evaluation and supervision to instructional assistants supporting students with disabilities. Have any idea or tip that can help other parents? Please drop me a line at Betsy@tfrr.org and we’ll try to get it in our next edition.Page 2


STORIES OF HOPE: Sela Cornell’s parents hopeful about LCA cure
Mike and Chrissy Cornell were overjoyed with the birth of Sela, but within the first few months of her life noticed a lack of visual responsiveness and unusual roving eye movements. Initially doctors weren’t concerned about this condition, known as nystagmus, but when the condition persisted, they sent Sela for numerous tests. At first they suspected a brain tumor, and later focused on the retina. Baby Sela was only six months old when the diagnosis came: Leber Congenital Amaurosis. “You are never prepared to hear something like that as a parent,” says Mike. “We didn’t know where to turn, and the information on LCA that was readily available was sparse.”
Needing the support of family and friends, the Cornells packed up and moved back to Chicago. “It was a difficult time for us,” says Chrissy. “We needed time to grieve. And although we set out right away to get Sela the special help she needed, we felt overwhelmed and alone.” Eventually the Cornells found solid ground, in part because they met David and Betsy Brint, who also had a son with LCA and had started the Foundation for Retinal Research a few years earlier. “David and Betsy were so open and warm and invited us into their home,” says Chrissy. “After we left their house I remember thinking, ‘they were laughing and joking around—they are such a happy family.’ Meeting the Brints gave us that sense of support we had been missing.” The Cornells decided that they wanted to do whatever they could to help fund research and awareness efforts for LCA. They started a fundraising triathlon, raising money from family and friends. “Once we started doing something positive, we began to feel more connected to what was going on in the LCA community,” says Mike. “The triathlon provided a constant reminder that there are people out there who want to help support Sela, her family, and others who are in the same boat.”
Sela, now four and a half is learning Braille and has started using a mobility cane, which she decorates with little charms and colorful tape, and proudly tells friends and strangers that it “helps her see.” “We are so proud of Sela and thankful for the network of information and support the FRR has provided”, says Mike, “and thanks to the research advances in the past few years we are very hopeful about a cure. It’s no longer a question of ‘if’ a cure will be found but when.”

TFRR salutes its upcoming fundraisers for 2007
Mike and Chrissy Cornell have not only devoted a lot of their time to helping The Foundation for Retinal Research, they have also raised a substantial amount of money for re-search projects funded by FRR. The Cornell’s have organized triathlons that have raised more than $50,000 in 2006. Fundraisers scheduled for 2007 are listed below. If you would like to host a fundraiser, please call Amber Purpura at 1-630-978-0547. Thanks to everyone who has helped!
Amodeo Yearly Membership Drive
Adams Yearly Membership Drive
Best Walk-A-Thon
Bushland Walk-A-Thon
Bruggemann Dinner Event
5th Annual Cornell Triatholon
Gillaspie Walk-A-Thon
Gruszka Golf Outing
3rd Annual Johansen Walk-A-Thon
Kocheran Social Party
Koren Walk-A-Thon
Miller Walk-A-Thon
Moncman Golf Outing
Moncman Lift-A-Thon
Moncman Walk-A-Thon
2nd “Nutt” Beef/Beer Social
Rankine Walk-A-Thon
Rockey Walk-A-Thon
Special Kids Network
Super Bowl Raffle
St. Arnaud Various Events
Raffles
Sporting Events
Auctions
Seed Walk-A-Thon
Swenson Fundraiser
Pennington “Strut Your Mutt” Walk
Purpura Walk-A-Thon
Walker Fundraiser
Zacknoun Walk-A-Thon

Interested in hosting a Fundraiser for FRR? Please contact Amber Purpura at 1-630-978-0547.

‘FRR VISIONS’ is the quarterly wewsletter for the Foundation For Retinal Research.
We hope to spotlight families and research projects. If you have an idea for a newsletter item, please contact Amber Purpura at 1-630-978-0547. We appreciate your comments!


CHECKLIST: TESTING FOR LEBER CONGENITAL AMAUROSIS
STEP ONE: WHEN LCA IS SUSPECTED: TESTING BEFORE AN LCA DIAGNOSIS HAS BEEN REACHED Often, parents are the first to know that there is a vision problem in their child. In LCA, this can come early when their child does not respond in the usual manner to visual stimuli and cues. The first step after this, of course, is to take the child to their physician - Pediatrician, Ophthalmologist, etc. Most often, a diagnosis can be made from the initial eye exam by an Ophthalmologist. The main sign is very low vision early in childhood. Other signs might be nystagmus (wandering eye), lack of proper pupil response or eye rubbing. The Ophthalmologist might consider some specialized testing to assess the situation. One such test might be Electroretinography (ERG). Since the retina is neural and part of the Central Nervous System, the retinal neurons produce characteristic electrical patterns that can be measured. The normal retina produces a fairly standard ERG pattern that changes under disease conditions. In LCA, the ERG signal is usually markedly diminished or even extinguished. Along with the ERG test, a general physical exam and probably a hearing exam will be performed. These are done to rule out other conditions which can masquerade as LCA. As better explained in Step Two, these are usually not necessary but might be needed in special cases. STEP TWO: RULING OUT OTHER CONDITIONS As mentioned above, occasionally, the eye signs of LCA can be caused by other disease processes. When this is suspected by the Ophthalmologist, the following other tests can be performed that rule out the other conditions. Again, it is important to point out that these tests are usually not needed but only indicated if the Ophthalmologist suspects that LCA may not be the primary diagnosis.1) Physical Examination: A complete physical examination can be conducted usually by the primary care physician to rule out other medical issues as best as possible. Specific questions are asked that elicit signs and symptoms that may indicate the involvement of systems other than the eye and vision. The Foundation for Retinal Research has prepared this document to assist families of children with Leber Congenital Amaurosis (LCA). Use it to determine what tests should be performed before an LCA diagnosis has been reached and, then, after an LCA diagnosis has been confirmed.


FRR BOARD UPDATE
David Brint
The Cleveland LCA Conference last July was a milestone for the Foundation for Retinal Research. It was great to see so many families eager to move the mission of the FRR forward rapidly. Right after the conference, several parents met with us for a strategic planning session. We would like to recognize Dave Bushland, Lee St. Arnaud, Mike Cornell, Tim Pennington and Amber Purpura. The strategic planning session helped us re-define our mission, evaluate our administrative needs and outline our fund-raising goals for the coming years. A special thanks to Chrissy and Mike Cornell for being sounding boards and consistent rational thinkers in matters of importance to the FRR. Their endless time and thoughts are appreciated by us, as well as Amber. Jerry Chader, FRR’s Chief Scientific Officer, along with the help of Lee St. Arnaud, spent endless hours creating a Clinical Workup for newly diagnosed LCA patients (Page 4-5). No longer will a newly diagnosed family have to spend months trying to figure out what to do. As a result of the strategic planning session, an associate board focused on fundraising will be established. That Board will guide the efforts of our grassroots fundraising and will direct any national event efforts. We are pleased to announce that we have hired Sally Lewinski as a full time office administrator. This will free up Amber’s time to do more fundraising nationwide with all of our members. We hope that these initiatives will allow the Foundation to effectively continue to move research forward. It seems that every week some new finding occurs. We want to make our vision a reality.

SCIENCE & RESEARCH: A Path to a Cure
Dr. Jerry Chader
In a hereditary disease, the most obvious way to treat and possibly cure the disease is to replace the defective gene. This is called Gene Replacement Therapy. Over the last few months, there has been substantial progress in both Gene Therapy and the necessary steps leading to the therapy for LCA patients. Genes: LCA is not a single disease entity in that mutations in more than one gene (genotype) can lead to the physical signs (phenotype) of the disease – specifically, severe vision problems in childhood. As is obvious, knowing the identity of the gene mutated in a particular patient is basic to replacing that gene. As reported by RetNet, the premier web repository of gene information on retinal degenerations, 11 different genes are now known whose mutations can lead to recessively inherited LCA. Mutations in 2 known genes lead to dominantly-inherited LCA. Up to a few months ago, the genes identified to that time accounted for an estimated 45% of LCA cases. More recently, a mutation was identified in a new gene (CEP290) that accounts for about 20% of LCA patients. Thus, to date we know the gene mutations responsible for 60-70% of all LCA cases. Breaking news in this area is that a new gene mutation has just been identified. It is not yet known what the prevalence of this gene mutation is in the general LCA population but certainly will ultimately allow for future gene replacement in a higher percentage of LCA cases. Genotyping: Matching up a particular gene mutation with a particular patient is called genotyping. Certainly, no patient can undergo Gene Therapy without proper genotyping. Several genotyping centers are now operating, one of which is led by Dr. Ed Stone at the Carver Laboratory, University of Iowa. The lab is run in a “non-profit format” with reimbursement for only the actual costs of performing the tests. Finding the gene in some patients will be easier (or luckier) than in others, thus the cost of the testing will vary from case to case. However, the cost is relatively modest - $100-1200/patient. Along with the most direct benefit of genotyping, i.e., putting the patient in the queue for future Gene Therapy, there are secondary but yet important benefits. For example, knowing the gene mutation should allow for a more accurate prediction of the disease course in each individual. Specific mutations may be associated with a better prognosis – good news for any family with a newly diagnosed child. Gene Therapy: Once an LCA patient’s gene mutation has been confirmed, the person becomes a candidate for gene therapy. Of course, no such treatment is presently available for any of the LCA gene mutations but a clinical trial for one type of LCA is getting underway with others yet in the planning stages. The gene in question is the well-known RPE 65 gene whose mutation leads to severe visual dysfunction in early childhood. Excellent animal models with RPE65 mutations are available that have the same phenotype as in the human. Using these models, extensive preclinical work over the last 7 years has demonstrated both safety and efficacy of Gene Replacement Therapy for this condition. In fact, animals treated over 5 years ago are yet seeing very well. This gives great hope that both children and adults with the RPE65 mutation can be treated in the next few years. Thus, many of the theoretical and scientific hurtles in defining an effective and safe treatment for LCA have been overcome. It is up to us now to overcome the practical problems of uncovering sources of funding and companies willing to work on this “cure” for all genetic forms of LCA. The Mission of the Foundation for Retinal Research is finding treatments and cures for Retinal Degenerative Diseases and supporting affected families.

Amber Bobnar is new editor of “Just For Parents”
Amber Bobnar has agreed to be the lead editor of the “Just For Parents” page on the FRR website at www.TFRR.org. Amber is the mother of Ivan Kapi’i Bobnar, born June 11, 2005. Ivan was diagnosed with LCA at 13 months but Amber has been learning about LCA and blindness since Ivan was 3 months old. She is the author of many articles on her website, www.wonderbaby.org, and is always looking for fun and exciting ways to encourage Ivan and other blind babies to interact with their environment. Amber, Ivan, and dad (Esoos) all currently live in Kealakekua, Hawaii but are soon planning a long move to Watertown, Massachusetts where Ivan will attend the Perkins School for the Blind.


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