The Foundation for Retinal Research Newsletter, June 2007

tag:blogger.com,1999:blog-7430156.post-9903844072525578332007-06-28T19:30:00.000+02:002007-06-28T19:34:25.595+02:00The Foundation for Retinal Research Newsletter, June 2007FAMILY TO FAMILY May 5 was a dream come true. When we walked into Wrigley Field that day and saw people wearing the “Play for LCA” shirts, I began to cry. For 10 years now, we’ve been trying to make people aware of, and educate people about, LCA. On May 5, for the first time, acceptance and awareness were everywhere. LCA moved up to the ‘majors’ in terms of being talked about. It is not just an issue now for the few - it is an issue in the hearts of everyone who loves the Cubs and Derrek Lee, whose daughter has LCA. Project 3000’s mission is not only doable, but it is happening. The timing is perfect. Human trials for gene therapy are beginning and making international news. All the efforts of The Carver Lab, First Touch, FFB and FRR are making a difference. Dr. Ed Stone did a wonderful job on both TV and Radio. They were smart enough not to allow us to talk (I think I would have cried my eyes out). Alan got to sit in the radio booth and he was in heaven! Alan has fallen in love with baseball this year - he listens to every game on the radio - so to be there as the announcers were talking was surreal for him. They were all so nice to him and spent time talking to him during commercials. We are grateful that we were able to participate. I only wish all the FRR families could have been there. Not only did the Cubs win - but we all did! To read more about ‘Play For LCA” day at Wrigley Field, please turn to pages 4-5. Drs. start LCA gene therapy LONDON (Reuters) - A team of British doctors in May carried out the world’s first eye operations using gene therapy to try to cure a serious sight disorder. The group from Moorfields Eye Hospital and University College London (UCL) has operated on a small number of young adults with Leber’s congenital amaurosis, a type of inherited childhood blindness caused by a single abnormal gene. The condition prevents the retina from detecting light properly, resulting in progressive deterioration and severely impaired eyesight. There is no effective treatment. The new experimental procedure involves inserting normal copies of the faulty RPE65 gene into cells of the retina -- the light-sensitive layer of cells at the back of the eye -- using a harmless virus or vector. The British doctors are working alongside Seattle, Washington-based biotech firm Targeted Genetics Corp., which made the vector being used in the Phase I/II trial. It will be several months before the success of the procedure can be properly assessed but medics said there had been no complications so far. The move into human testing follows 15 years of laboratory and animal experimentation, including tests on dogs whose vision was restored to the extent they could navigate a maze with ease. “Testing it for the first time in patients is very important and exciting and represents a huge step towards establishing gene therapy for the treatment of many different eye conditions,” Robin Ali, professor of human molecular genetics at UCL, said in a statement. The clinical trial was given 1 million pounds ($2 million) of funding by Britain’s Department of Health, which said the pioneering research underlined the country’s leading position in gene therapy in Europe. The idea of using gene therapy to fix diseases caused by genetic faults has long appealed to scientists, although getting the idea to work in practice has proved tricky. Some gene therapy approaches have helped patients. But one 18-year-old volunteer died in a gene therapy experiment in 1999 and two French boys cured of a rare immune disease later developed leukemia. Over 70 percent of gene therapy trials to date have been for cancer, where the process is complicated by the need to reach multiple sites in the body. The eye, by contrast, is relatively straightforward, said Andrew George of London’s Imperial College. “The eye is good for gene therapy because it is a simple organ and it is easy to see what is going on. There is hope that once gene therapy is developed in the eye, scientists could move on to more complex organs,” he said. Here comes trouble - Hurray! Last week, my charming and perfect son got suspended from school. Yep – you read it right – David and I found ourselves sitting in the principal’s office with Alan, his fourth grade teacher, his Braille teacher and the school social worker. It seems that our adorable little child has been experimenting with naughty words. Now Alan is smart enough to know that he can’t get away with using bad language at home or at school, but, he is a ten year old boy who is intrigued by swear words (yes, he has an older sister and brother) and the thought of four-letter words makes him giggle. Alan used unacceptable language in a way that he thought no one would ever find out, and let me tell you, it was pretty clever. Alan uses a Braille Note at school to do most of his homework assignments. Other than Alan’s Braille teacher, Alan is the only one who really knows how to use it. Knowing that his Braille teacher never looked through Alan’s files in the Braille Note, Alan began to name all of his homework files very naughty names. He figured no one would know because when he prints out his homework, the file name does not show up. Unfortunately for my little juvenile delinquent, his Braille teacher happened to find the files while looking for something else. Oops. This little stunt resulted in a one-day suspension from school and the loss of unsupervised use of his Braille Note for the rest of the year. Guess what? I am thrilled this happened. Sure, I feigned shock and disappointment, but in reality, I liked it that Alan was getting into trouble like most ten-year-old boys. He also learned a life-lesson about appropriate behavior and it opened the door for us to discuss other social dos and don’ts and the consequences for his actions. As parents of children with visual impairments, we are often overly concerned that our kids have “perfect” behavior so we structure their lives until they become little robots unable to think for themselves. But how will they learn to live in the real world and react to everyday situations if they are not getting into a little trouble when they’re young? So take a moment to savor the rough days. Secretly try to enjoy their independent acts of mischief. And make those socially inappropriate actions into learning opportunities for life. 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. Is this the year you make a difference? By Amber Purpura amber@tfrr.org I am going to let everyone in on a little secret. The first time I decided to participate in WALK With a VISION walk-a-thon I was scared to death. I thought I was going to be the only person to show up at my walk. I was so surprised when I ended up raising over $15,000 and having over 200 people come. I want you to ask yourself to think about if you are ready to make a difference. We need to come together as a whole and raise funds for the foundation that is committed to funding medical research, public awareness, and family education. I know that all of you have had a friend, family member, or neighbor ask you what they can do to help. Yes, I know what you are thinking, “I don’t know how to set up a fundraiser, I have never done anything like that, how much could I possibly raise?” We have new software that will allow each family to customize your personal web page and invite family and friends to visit it and support your efforts with donations. And my job is to help you! Here is a list of families that have committed to joining us in fulfilling our mission. Thank you for all your hard work and stepping up to make a change. If your name is not on the list and you want to hold a Walk – please email amber@tfrr.org or call me at 630-978-0547. Together we will see a difference! Amber Purpura is Communications Director of FRR. You can contact her at 1-630-978-0547 to receive information on fundraising activities for FRR. 2007 FRR Fundraisers Adams Yearly Membership Drive - State College, PA Amodeo Yearly Membership Drive - Dunellen, NJ Best Walk-a-thon - Portland, ME Bruggemann Dinner Event - West Babylon, NY Cornell 5th Annual LCA Triathlon - Lake Geneva, WI Drury Golf Outing - Glastonbury, CT Frommer Purse Party - Highland Park, IL Gruszka Golf Outing - Grand Island, NY Johansen 3rd Annual Walk-a-thon - Tualatin, OR Kocheran Social Party - South River, NJ Koren Walk-a-thon - Colorado Springs, CO Miller Walk-a-thon - Medina, OH Moncman Golf Outing - Center Valley, PA Moncman Walk-a-thon - Center Valley, PA Moncman Lift-a-thon - Center Valley, PA Nutt Beef and Beer Social - Turnersville, NJ Nutt “Old Cell Phone” Donations - Turnersville, NJ Pennington “Strut Your Mutt” Dog Walk - Cincinnati, OH Purpura Walk-a-thon - Naperville, IL Rankine Walk-a-thon - Warner Robins, GA Rockey Walk-a-thon - West Milford, NJ St. Arnaud Various Local Events - LaGrange, IL La Grange Highland Women’s Club, LaGrange Highland, IL Apex Oil Charitable Foundation - Clayton, MO Seed Walk-a-thon - Alberta, Canada Special Kids Network Tennis & Golf Outing - Deerfield, IL Super Bowl Fundraiser - Chicago, IL Swenson Fundraiser - St. Paul, MN Walker Fundraiser - Heber City, UT Arcilia/Villigran Walk-a-thon - Scotch Plains, NJ GRANDMOTHERLY COMMENTS: By Ronnie Schwartz Editor’s note: Sharing grandparenting experiences can be enlightening and helpful as we all continue to find ways to bond with our children and grandchildren who are blind. We invite you to participate in this space in forthcoming newsletters by contacting Sally Lewinksi at sally@tfrr.org My husband Alan and I were fortunate to participate in a meeting with 25 fellow- grandparents attending the Cleveland FRR conference in July, 2006, where we shared many common feelings and experiences. We realized that for most of us, the reaction to the news of a grandchild’s blindness was initially shock, disbelief and often denial, coupled with a natural concern for our children’s adjustment to this major turn of events enveloping their marriage, impacting other children in the family, and forcing them to forge a new path in child-rearing that was unexpected, unbargained for and intimidating. I thought it might be helpful to recount some of the many positive experiences my husband and I have enjoyed with our blind and handsome grandson Alan Brint, who is now ten years old. For those of you who are new to the experience of grandparenting a baby who is blind, I encourage you to attend and watch some of his/her therapy sessions. It became fascinating ten years ago to watch Alan, go from being frightened, crying and uncooperative to cooing with pleasure as he learned to master the feats of clapping his hands, touching his toes, rolling over, and later doing a somersault. I remember him being fascinated with pulling big plastic alphabet letters out of a bag, feeling them, identifying them, and then throwing them across the room (which gave him even more pleasure when he learned that was a big no-no). We were not just fascinated but also took great pride in each accomplishment that in a sighted child we would have taken for granted. Alan is now in the fourth grade of his neighborhood school, and continues to delight and amaze us with his development, albeit with some extra coaching along the way. His brother Zack walked him to school until Zack moved on to middle school; now Alan hooks up with four other kids at the corner and they all walk the five blocks together as friends. Spending time alone with Alan is special and made easier now that his older sister Karly has taught Alan to enjoy many card games. With Braille cards we can engage him in a game of cribbage, Uno or war. We enjoy listening to him play the piano. Sometimes these activities often require some negotiating, as Alan likes to control the situation by setting down specific ground rules such as “I don’t practice piano on Sunday”, or “I’ll only play one game, but not now.” We come back with some ground rules of our own. For instance, when playing monopoly (in Braille form) I insist on rolling the dice when it’s my turn, and on making my own moves (he would prefer to take both of our turns). Another game we all enjoy is to take turns scrambling letters in a word for the other to guess. (He does it in his head, I do it on paper.) Or, using Scrabble letters, we used to take turns picking seven letters and making a word that would give the most points. Exploring the mall is usually a successful outing. We drive to the mall of Alan’s choice and while heading for the food court we figure out what each store sells (shoes, perfume, books) by feeling or smelling, and ride the escalator several times. One time Alan’s brother Zack, a very responsible 13-year-old, rode (3 miles) with Alan to the mall on their tandem bicycle (with parental permission), with Alan doing his share of the pedaling. I was glad I found this out after the fact, but on second thought I realized how liberating this must have been for Alan. My husband and I appreciate the importance of minimizing Alan’s blindness and maximizing his great potential by doing normal activities in and out of the house, but we are still working on his being considerate of the needs of others both in play and in ordinary activities. His grandfather encourages Alan to explore his feelings, which will help him develop social skills and not just live in his own world of facts. Ronnie and Alan Schwartz are the parents of Betsy Brint, and one of the main reasons that the Foundation for Retinal Research exists today to help in LCA research and activities for parents and their children. Patrick St. Arnaud debuts at Wrigley Field! By Lori St. Arnaud On May 5 we decided to go to Wrigley Field to lend some support to the LCA booth outside Wrigley Field. We had Mirielle while Patrick stayed at home with his Great Aunt Kathy & Uncle John. Right when we got there the people manning the booth literally had everything all packed up in boxes and walking a way. We stopped them and said we wanted to buy a few bracelets and that our two children have LCA. They were very nice and said they would see if they could get us into the stadium to see the booth inside. Next thing you know we were inside Wrigley at the booth. We met several volunteers from Sacramento who know Derrek Lee and do work for his foundation. Everyone was very kind and compassionate about the cause. We were there for about five minutes when I looked over at this 7-foot banner that says ‘Play for LCA’ and lo and behold their was Patrick’s picture! We were surprised and excited. All the volunteers were, too. It was great to point him out, as well as Nicki, Alan and Fran from Italy. It was a great moment for us. Lee and Cub teammates spread word about LCA CHICAGO -- Michael Barrett and Ryan Dempster have joined Cubs teammate Derrek Lee in the fight against Lebers Congenital Amaurosis, a rare genetic eye disease, and on May 5, fans joined in the battle. Lee’s 1st Touch Foundation, along with Chicago Cubs Charities, challenged fans to pledge money for every home run Barrett hits or every save Dempster picks up, or by simply making a contribution in the fight to cure LCA. Lee’s 4-year-old daughter Jada was diagnosed with the disease last year and is partially blind in one eye. Fans could buy red “Believe the Unseen” bracelets to support Project 3000, a program launched by Lee and Boston Celtics CEO and co-owner Wyc Grousbeck to find a cure for LCA. The group is trying to locate the 3,000 people believed to suffer from the disease and get them tested. “We’re just trying to get the word out and the awareness,” Lee said. “Anything we can do is good.” Entering Saturday night’s action, Lee was leading the National League in hitting, has reached base safely in all 28 games this season and has a 13-game hitting streak. His efforts in the fight against LCA are making an even bigger impact. Char Schwabero, who came to Saturday’s game from Naperville, Ill., heard about Lee’s daughter last year, and said she was more than happy to support the cause. “Anytime they can get more money for research and help find a cure so [Jada] doesn’t go blind is great,” Schwabero said. “I know it’s a good cause.” Two tables were set up at Wrigley Field on Saturday -- one at the corner of Addison and Sheffield Streets, and the other inside the main entrance -- so fans could receive information about LCA and donate to Project 3000. “This is the first time LCA has ever been exposed like this,” said Heather Scherber, development associate for the 1st Touch Foundation. “It’s never been put in front of an audience this big. It’s the first time that it’s ever getting national exposure, and so it is an absolutely groundbreaking [experience].” Project 3000’s goals are to identify everyone with LCA, offer affordable genetic testing, provide information about LCA and other rare eye diseases, and raise funds for LCA research. Lee and Grousbeck, who also has a child that suffers from LCA, teamed up with Dr. Edwin Stone and the University of Iowa to work toward an eventual cure. Supporting Lee and Project 3000 was an easy decision for Margaret Davison of Kankakee, Ill. “If my daughter were ill, I’d want some help,” Davison said. Before Lee and his teammates took the field May 5, Alan Brint, a 10-year-old from Highland Park, Ill., who has LCA, was honored with his family on the field. “What Derrek Lee has done, and Dr. Stone, too, is bring [LCA] to the forefront and make it something that the nation is now aware of,” said Alan’s mom, Betsy Brint. Clara Johansens’ parents raise $15,000 for FRR, LCA By Mark and Laura Johansen The Johansen family put together their 3rd Annual “Walking with a Vision” walk-a-thon on May 20 in Tualatin, Oregon. Three years ago we talked with Amber Purpura about her efforts to fundraise by putting on her own “Walk-a-thon” and we thought what a great way to get our family and friends together and to raise money and awareness for our daughter Clara’s condition. The activism gave us a strong sense of involvement toward finding a cure for Clara’s Leber’s Congenital Amaurosis. It also helped us show David and Betsy just a small token of our huge appreciation of their efforts in providing the families affected by Lebers a place to feel comfort, strength, and knowledge about this condition. We could not have been more touched by the response we got from friends and family our first year. They all came together to raise over $15,000 and encouraged us to continue putting this event on year after year. We were equally successful our second year. We have included a silent auction and after-walk reception with refreshments, music, face-painting and Clara’s Vision Specialist is planning to teach kids how to type their names on the Perkins Brailler again this year. To find out more information check our own page on the website under the “Walk with a Vision” tab, then click on “Portland” for “Choose your city”. You can see pictures of Clara and our family and friends at previous walks, and make a donation in her honor. Thanks for your continued support. Start collecting old phones, and help raise funds for LCA research through FRR! By Sue Nutt Do you want to help raise money for The Foundation for Retinal Research and help the environment without costing you anything? That’s right, it will cost you nothing! Start an “Old Cell Phone” collection program in your area! We have the wonderful opportunity to collect used, unwanted, old, even non-functioning cell phones and get money for them through a company called Eco-Cell. You don’t need the manual, the box or the charger. You don’t need to clear out your contact information. It can even be one of those really big, old phones that seem so funny compared to the new small ones we all walk around with now. We get money for all of them, up to $15 per phone! Your phone will be recycled in accordance with EPA regulations or refurbished & sold. Your donation may be tax deductible. 100% of the proceeds will benefit The Foundation for Retinal Research! Some suggestions for starting a collection in your area: • You could start a collection box at your job, your child’s school, your local church, gym or any other group or business that will allow you to do so! • You could have a contest with family and friends to see who can collect the most phones in a specific time frame. You could give the winner a little prize or a certificate for their efforts. • Go to your local cell phone stores and ask them what they do with their old phones. Some of the independent stores may just be throwing them away. You could help the environment and the foundation all at once! • Another great place to talk to is a local real estate office. I am personally a REALTOR and I know myself and my co-workers typically go through at least 3 phones per year. The local office may be able to start a collection box for you. So many people have old cell phones lying around that they don’t know what to do with it’s amazing! Just ask and you’ll see! When you have some collected, you can e-mail or call me and I’ll send you a pre-paid shipping label and all you’ll need to do is box them up and send them on their way! If you have questions you can e-mail me or call me. SusanSchulerNutt@comcast.net/856-256-9321 Triathletes gear up for 5th annual Cornell event By Chrissy Cornell Although we’re still brushing off the cobwebs from a lengthy Midwestern winter hibernation, make no mistake about it, the excitement is building. The 5th Annual LCA Triathlon Fundraiser is right around the corner. On June 24, 2007, our family will participate in the Bigfoot Triathlon in Lake Geneva, WI, as part of an effort to generate fundraising dollars for LCA research and awareness. From brainstorming session to inception, this event has truly helped our family connect with each other and many others touched by LCA. We’re so ready to swim, ride and run our way to THE finish line! for more information visit us on the web at www.tfrr.org FRR BOARD UPDATE • David Brint At this point, with all the talk of clinical trials , genes, stem cells and Lancelot everyone is wondering what is or can be done for each form of LCA. With the help of Dr. Jerry Chader, below is a summary of the current advances in various areas of the science. Each treatment is most likely predicated on whether an individual has living photoreceptors nuclei. For every form of LCA this differs by the individual. Fortunately, there are ways to determine cell existence through OCT and other adaptive optics techniques. Talk to your doctors for direction. Remember that five years ago this article would consist of very preliminary retinal chip technology only. The promise of these and other treatments give us a great cause for hope. Gene Replacement Therapy is the replacement of a defective, mutated gene with a normal copy of that gene. For example, if the RPE65 gene is mutated in RPE cells in some LCA patients, Gene Therapy techniques can be used to supply a normal copy of the gene that will make a normal, functional RPE65 protein. Studies in this regard on LCA animal models have been very successful. A Clinical trial with two LCA patients is now underway in London England under the auspices of Dr. Robin Ali. Two similar clinical Trials are set to start in the USA at the University of Pennsylvania in the near future. This form of treatment will be applicable to all types of LCA if the gene mutation is known and if viable photoreceptor cells remain. Pharmaceutical therapy is the use of an agent (natural or synthetic) that will slow down the course of photoreceptor degeneration. Many such agents have been uncovered, some like the agent CNTF have been found to be effective in animal models of RP. A Clinical Trial using CNTF is in progress (phase 2) sponsored by the company Neurotech. So far, results have been good. This form of treatment is applicable to all forms of LCA (and RP) but the presence of viable photoreceptor cells is essential. Nutritional Therapy: Vitamin A therapy is yet theoretically useful to LCA patients since LCA is a form of RP. Patients should consult their Ophthalmologist before starting a vitamin A regimen. Antioxidant supplements have recently been shown to slow photoreceptor degeneration in a number of animal models of RP. Both safety and efficacy appear to be good. A Clinical trial is being planned in Spain to test a specific formulation (called RetinaComplex) for safety and efficacy in the human. Although the testing will be on RP patients, the treatment should be applicable to all LCA patients with viable photoreceptor cells. RetinaComplex is available for purchase over the internet since the ingredients are classified as “nutrients by the USFDA and are generally deemed safe for use. Patients should consult their Ophthalmologist though before use. Remember always that the heart health and eye health go hand in hand. Stem Cell Transplantation: This is replacement therapy for those who have lost their photoreceptors. Stem cells are primitive, undifferentiated cells that have the capacity to develop (differentiate) into any cell of the body. Each of us developed as an embryo from a few such cells. Theoretically, if cells such as photoreceptor cells degenerate and need to be replaced, stem cells can be transplanted into the appropriate area in the retina and could, with proper signals, develop into mature, functioning photoreceptor cells. Importantly, stem cells have even been found in to periphery of the adult mammalian retina, giving hope that these could be harvested, multiply and be used to replace the dead photoreceptors. In this way, the problem of the use of fetal cells would be overcome. Recent work in this area of research has been encouraging. For example, the use of early progenitor cells of rod photoreceptor cells has been quite successful in transplantation studies in not only normal animals but in animals with retinal degeneration. Photoreceptor replacement in this way, however, needs more work as to the ages of the progenitor cells that are to be transplanted as there appears to be a narrow “window of opportunity” for their use. Stem cells could afford the best possible chance for sight restoration in what otherwise might be considered terminal cases of LCA, in just the last two years. Electronic Prosthetic Devices: When all or most photoreceptor cells are dead, they can be theoretically replaced by an electronic device that brings a visual image to the remaining cells of the retina. Essentially in this technique, a small video camera placed behind the patient’s glasses will send a visual signal to a device with multiple electrodes that is implanted on the retina. This “chip” will electronically signal the remaining retinal cells which pass the signal down the optic nerve for final processing as a visual image in the brain. Multiple clinical testing has been done on different versions of the prosthetic device in research centers around the world. In Germany, for example, acute human clinical testing has begun. In the USA, an FDA-approved Clinical Trial sponsored by the company Second Sight is just about to begin. Patients in the Second Sight trial will all be RP patients but the results should be applicable to all LCA patient with advanced disease. A Group of ‘True Visionaries’ By Abby Imrem Walter Payton College Prep High School in Chicago, Illinois is a magnet school, drawing the best and brightest of the inner-city students to its classrooms. Every Thursday morning of first semester, 20 of these talented students met in room 118 for a special seminar course entitled “Visionaries.” Half of the students are visually impaired or blind, and the other half are sighted. While many of their classmates were studying swing dance, relaxing in yoga class or watching Latin American films, these exceptional young people chose to spend their time together, teaching each other about what life is like in their world. “It was an opportunity to make new friends who see the world in a different way,” said Jasmine Armand, a 14-year-old freshman at Payton. The course is a collaboration between French Teacher Abby Imrem and Teacher of the Visually Impaired Doug Anzlovar. Imrem thinks the course fills a need that has long gone ignored at Payton and in the world. “I’ve seen sighted students jumping over the canes of visually-impaired students to get around them in the hallways, and noticed that they rarely make conversations with each other in class or at lunch. I thought getting the kids together in one room would give them the opportunity to socialize and just be together, and, with some luck, begin to learn about each other.” Some of the activities the students did together included brushing their teeth while blind-folded, playing beep baseball, and a community service project in which they worked together to Braille menus of their favorite local restaurants. One morning, Payton’s halls were dotted with visually-impaired kids guiding blindfolded sighted students around staircases and ping-pong tables. “This activity brought the phrase ‘the blind leading the blind’ to a whole new level,” said Imrem. “I think that people who took the seminar learned a lot about what it’s like to be blind, and I hope that they will share it with someone else and they will show someone else and so on,” said Chaquita Vinson. Classmate Lily Diego said, “It’s definitely easier and less awkward to speak about my disability now. I feel more prepared as far as letting people know about my visual impairment and my needs in the future.” Imrem and Anzlovar plan to continue the seminar for many years, with hope that as many young people and adults as possible can become true “Visionaries.” Rebecca DeGeorge is offering a new class called “Braille-By-Phone” a uniquely formatted distance-learning class for relatives, teachers and friends of blind children and adult Braille readers. Rebecca has taught Braille to adults at the Lighthouse for the Blind in San Francisco and for the Earle Baum Center of the Blind in Santa Rosa California. She is also a life-long user of Braille. DeGeorge is the Founder & CEO of Write Spirit Coaching and her business specializes in coaching people undergoing life and career transitions. Visit www.write-spirit.com for more information on the class. --end--<div class="blogger-post-footer"><img width='1' height='1' src='https://blogger.googleusercontent.com/tracker/7430156-990384407252557833?l=lcablog.blogspot.com'/></div>Starlightnoreply@blogger.com0