The newsletter for families and supporters of the Foundation for Retinal Research
www.TFRR.org • info@tffr.org • 1-224-927-5063 Sally Lewinski, editor
LCA Family Conference a success
By Mike Cornell
By all accounts the 2008 LCA Family Conference was a major success. Over 100 families from six different countries traveled to Cleveland, Ohio to connect with others touched by LCA. In front of record numbers, breakthroughs in retinal research were explained by some of the most respected researchers and doctors in the world. For many, confirmation of the forward momentum being generated in the world of retinal degenerative disease proved emotional.
From the perspective of the Foundation for Retinal Research Associate Board (AB), the conference was all this and more. AB members had the opportunity to meet with new families the first evening at the New Family Meet and Greet, welcoming newcomers and fielding questions about LCA. The group of participants was as dynamic as it was diverse. One gentlemen, who was with his wife and two children, had traveled to the conference not for himself, but to support a friend whose child had been diagnosed with LCA.
During break out sessions, discussions led by AB members ranged from parenting young children with LCA to how to help through fundraising. Involvement from the audience in all cases was inspirational.
Over the last year, the Associate Board worked towards establishing a set of goals that would help strengthen the FRR as a whole. Two of these goals stand out as primary. The first is to bolster the lines of communication between FRR and constituent. The AB decided to gather information about how effectively the FRR website communicates with families, and as such, distributed a survey at the conference. The feedback from familiesis being reviewed and will no doubt establish a stronger line of communication via the website.
The second goal of the Associate Board is to raise awareness about grassroots fundraising. Together with Amber Purpura, FRR Director of Communications, the AB reached out to families at the conference in an effort to show grassroots fundraising plays a vital role in the funding of research projects, and is something that everyone can participate in.
In sum, the conference created an atmosphere of family, providing participants with a sense of connectedness that will last a lifetime. The commonality produced by this very rare retinal disease allowed people to share stories of hardships and good times, and to walk away with a better understanding of LCA and the direction of ongoing research efforts. The Associate Board felt privileged to witness and be a part of the event
Family to Family
By Kathleen Link
Never say never! When Maddie got home from school today, I opened her backpack to find the coolest drawing. As usual in Maddie’s artwork, there was a dog, cat, horse, chick, a sun and a harp. Unlike most of her artwork, there were words next to each picture describing it and a phrase: “Happy to be calming the animals.” I asked her about the picture and she explained that it represented what she wants to do when she grows up: She wants to be a harp therapist for animals (yes, there is such a job!).
Eleven years ago when we began our journey with Maddie and the frustrating, confusing world of LCA, the idea that she’d ever be able to draw, print or express herself so beautifully seemed far off. What we’ve learned over the years is simple – never say never.
Maddie’s great enthusiasm for life and learning and her determination to try things without fear of failing are amazing. She has risen to and overcome challenges that would be daunting for kids with normal vision! The past few months have been truly exceptional in that she earned three awards in very diverse activities.
First, Maddie participated in the NFB’s Braille Readers are Leaders reading contest. Grade proficient in both print (using a CCTV) and Braille, she entered the twin-vision category and was one of the top five kids in the country! In June, she was invited to attend the Blindness Awareness Expo in Harrisburg, where she was presented with certificates of achievement as well as citations from the Pennsylvania State Senate and House of Representatives.
The following weekend, she competed a kids duathlon wi which she ran .3 mile, biked a mile (on her tandem with her dad as her "eyes" - and incidentally, she had to do the pedaling for both of them), and then had to fun another .3 mile. After they took off, the event announcer told the crowd that there was a visually impaired athlete running with her dad. He went on to say what an inspiration kids are because they just don't let obstacles get in their way. Maddie hoped to finish in 15 minutes and just as the announcer was asking me when I thought she'd come across the line, she rounded the corner. The announcer very excitedly yelled "HERE THEY COME!" and the whole crowd started cheering! She crossed the line at exactly 15:00!
In mid-September, her third award came in the form of a first place trophy for harp performance at the Irish American Association of Northwestern New Jersey's annual Feis (a celebration of Celtic culture). She has been playing the harp for just a little more than a year and has decided that she wants to build her career around therapeutic harping.
Or she might like to be a scientist - she has a special interest in space and geology.
Or she might work for the National Park Service...or have a farm with her friends...
When I told her she could be anything she wanted to be, except maybe a race car driver or a pilot, she quickly said, "Hey Mom, you never know when they'll figure all this vision stuff out."
And she's right. Never say never.
This is Betsy’s Corner
By Sally Higginson
This is Betsy's Corner the place where my sister writes about her experiences raising Alan. Remember the piece about visiting the zoo? Who else could have waxed poetic about the smells emanating from every cage and every den? Yet Betsy made it sound fun as she and Little Alan sniffed their way from primates to reptiles. Remember the column about parasailing in the Caymans as a way to teach Alan about wind and sky? I read that article and felt the wind and the sea, forgetting for a moment that I was part of that flight, sitting strapped next to my nephew, trying in vain to hide my fear and match his sense of euphoria. Betsy was strapped to the other side of Alan, talking to him, teaching him, and guiding him through yet another life expanding experience.
That’s really the difference between being the mom and being the aunt. For Betsy, raising Alan is part of the fabric of her life. I’ve spent the past eleven years watching and listening as my sister and brother-in-law addressed issues most of us never dreamed existed. From the mundane (try taking a shower with a toddler you can’t plop in front of a TV) to the political (try rallying a team to visit lawmakers in Springfield so that funding for textbooks in Braille isn’t halted), the sheer energy involved in raising a child with special needs can overwhelm even the best among us.
But Alan’s not my child. He’s my nephew. I’m not on the front line, I’m on the side line. When I got to fly home with him, I not only enjoyed his company, I secretly reveled in my travel companion’s facility in airports. By age seven, Alan’s skills at escalators, elevators and moving walkways made him a celebrity. I can’t lie: it was pretty fun to be his aunt, watching with pride as the rest of the world stared (or tried not to stare) at the little boy with the cane.
Then there are the times when my role as Alan’s aunt collides with my role as sister. That happened this summer, when Betsy arrived at work and announced that, as part of Alan’s progression toward independence, he was learning to walk to school by himself. He’d have to cross real streets with real cars. The thought of putting this little boy at risk was only half the problem; understanding Betsy’s fears at this juncture put me, and my sister-in-law Claudia, over the edge. Betsy burst into tears. I burst into tears. Claudia burst into tears.
Okay. So we cried. And then we stopped. We called the mobility instructor who told us all, on speaker-phone, that this step was critical to Alan’s development. Hanging up, there was an atypical moment of silence in the office. Alan was going to walk to school by himself. Betsy was going to learn to live with yet another knot in her stomach that would, eventually, resolve itself. And my job was to support my sister, affirming her right to be petrified, and to support my nephew, finding a time to let him know that Aunt Sally couldn’t be more psyched about his accomplishment.
Still, every milestone in Alan’s life seems to have a ripple effect: what happens to him affects his siblings, his parents, his aunts and uncles, hisgrandparents, and beyond. One look at the twinkle in his eyes, the grin on his face, and the laughter that comes bellowing from within and it’s clear that he’s not so much a child with special needs as a child with special gifts. His Aunt Sally loves him.
SMELL OF SUCCESS
By Emily Pennington
In July, my mom, DeeAnn, and I went on an unforgettable trip to Provence, a town in the southeastern part of France. I got to try new foods, learn about creating fragrances, explore some of the Alps, and so much more.
I guess I should back up a little; I mean, this is not an everyday occurrence. Back in April, my dad was browsing the web site of the American Foundation for the Blind (AFB) when he came across an entry form for a contest. Four blind/visually impaired teens between the ages of 14 and 16 could go to Provence, France, on a trip sponsored by a fast-growing beauty company, L'Occitane. This is the only beauty company in the world who puts Braille labels on their products, which our family found intriguing, since this is not yet a common practice. On this trip, the teens would participate in several workshops in which they would be taught about the different essential oils in aromatic plants that are used to create fragrances, as well as how to extract them and create said products. They would also be able to tour the L'Occitane factory and create their own product in the laboratory! When I heard about the contest, I eagerly filled out and submitted the entry form.
At long last, I received the much-anticipated call in June telling me I had been one of the four kids chosen to go. After what seemed like an endless millennium of waiting, packing, and planning, we were on our way to New York. Once there, we met up with the rest of our group and boarded yet another plane to Nice, France. Now, there is a six-hour time difference between France and the US, so when we landed in Nice, what felt like 2:00AM our time was, in truth, 8 AM France time. We basically slept-walked through Customs, so needless to say, we were delighted to get some shut-eye on the two and-a-half hour drive from Nice to Provence, and even more thrilled to check into our hotel and literally sink into the down-filled bedspread on our hotel bed.
If I were given a limitless amount of space with which to create this synopsis, believe me, I'd have a novel on my hands, but this is a news letter, not Borders Bookstore. Regardless, I have to tell you about some of the highlights of this trip. During the first couple of days, the other three kids and I participated in the workshops, and we learned so much about the many uses of aromatic plants and their essential oils. We had a great instructor, Tashka, who was an older French woman, and she did an amazing job of making the learning experience hands-on since we obviously couldn't learn visually. I really enjoyed all of the things she taught us about different plants, how to distill essential oils, their uses, etc.
We also got to take a tour of the lavender fields, which was an incredible experience. There was row upon row, mile upon mile of lavender, and its scent was carried on the breeze as we were driving through the surrounding area. We explored an area of the French Alps, observing the numerous aromatic plants growing in that area. It was the perfect scene for the front of a postcard. On the last morning in France, our group took the much awaited tour of the L'Occitane factory, after which we were led off to the laboratory, where the creation of our own shower gels began. I had so much fun measuring out the ingredients, mixing them, and watching my product—my very own product—take shape (and scent, for that matter). The next thing I knew, I was holding my very own Cherry Blossom shower gel with a label on the bottle that said, "Created by Emily Pennington". Needless to say, Mom and I were almost in tears when the whole thing was over. We'd had an amazing, once-in-a-lifetime experience, and had made a bunch of new friends in our little group. Afterwords, we spent a few days in New York City and took part in some TV and radio satellite interviews, in which we shared our experience.
When I look back on it now, it seems so long ago; I keep having to watch the video and look at my shower gel bottle to make sure I wasn't having a wonderful, fragrant dream. But no matter how much time passes, I know I'll never forget it.
Seeing Possibilities: LCA Conerence an eye opener
By Lori MacKenzie
We are one of the fortunate families. The defective gene responsible for our 7-year old daughter Amanda’s LCA has been identified through a simple blood test. Many other families affected by LCA consider us further blessed when they learn that the gene is RPE65. When I first heard of RPE65, several months before receiving Amanda’s definitive diagnosis, I heard it referred to as the “Lancelot” gene. After her diagnosis, I discovered where this affectionate nickname originated. Lancelot is the name of the dog that received gene replacement therapy for defective RPE65 and showed improved vision, both initially and over a period of years. Since RPE65 was the first LCA gene to be discovered, it has had the most time to be studied. Only accounting for 6-16% of LCA cases, it is often considered a milder form of the disease, where the most vision is preserved for the longest time. There are, of course, exceptions to this trend. RPE65 gene replacement therapy advanced to trials in humans this year and has recently been reported to pass safety requirements and has initially shown some promising results of improved vision.
So, of course, many people think, we must be thrilled and ready to sign Amanda up for the next possible chance to get in on this exciting opportunity! Hmmm. Well, as all of these advancements gradually unfolded, I found them to be quite interesting but hadn’t thought them to be particularly pertinent to our lives. As far as my thinking was concerned, I had a young severely vision-impaired daughter who would sooner or later lose most of her remaining vision and we needed to do all we could to plan for this eventuality. To entertain the thought of treatment or a cure was to take precious time and energy away from the important tasks of preparation, acceptance, and necessary life adjustments. “This will help future generations,” I thought. I was grateful Amanda had the amount of vision she did and glad that she may keep it for a good length of time, but my mindset was to plan for the inevitable and to learn all we could about living a successful and fulfilling life with blindness.
With this outlook fixed in my mind, I attended the 2008 LCA Family Conference in Cleveland, Ohio. Initially, I was motivated to go for support and the opportunity to network and connect with other families impacted by LCA. Anything I could learn beyond that would be a bonus. After looking over the list of options, I had a plan: listen to a little of the scientific presentation (out of curiosity) and then, to be practical, it would be off to spend the majority of the time in the breakout sessions….daily living skills, orientation and mobility, assistive technology and of course Braille. I’m not quite sure how it happened, but I never left the scientific presentations! They were fascinating – full of information, interesting facts, and exciting research. Yet none of this is what kept me in the room. I was impressed and frankly astounded at the passion and determination the researchers so noticeably felt toward the potential for treatment. The optimism was contagious! For me, it got emotional. Should I change my outlook? Could I? I hadn’t dared to consider it. Dare I now? Following a full day of scientific teaching, I had the rare opportunity for a personal conversation with Dr. Bennett, as well as input from Dr. Stone. The possibility that Amanda could receive some kind of treatment in her lifetime for the degeneration in her eyes was becoming, for the first time, real to me.
Since the trip to Cleveland I have realized that it is indeed possible for me to be not only a practical, pro-active parent embracing my child’s disability but also, simultaneously, have hope in the progress being made toward a treatment and cure. I’ve recognized, through a powerful personal experience, that it does not have to be one or the other. It can be both.
Grandparents Roundtable at the 2008 LCA Conference
By Ronnie Schwartz
Sunday morning all seats were taken in the Intercontinental Hotel’s large meeting room where over 40 extended LCA family members gathered at at the July LCA Conference to discuss their experiences raising children with LCA. Discussion Leader Alan Schwartz asked participants to openly share ideas about how we can spend time with our grandchildren, and also to voice whatever concerns we may have.
First to respond was Judy Miller of Ohio, whose grandson Griffin (6) has accompanied them shopping and to concerts. Another grandparent had discovered a CD series on Classical Music for Children. Their grandchild enjoyed listening to it, then “taught” his grandparents what he had learned. Carolyn Redlin from Winamac, ND surprised everyone by announcing that she and her 4-year-old granddaughter Samantha like to cook together. Samantha helps by measuring, pouring ingredients, cookie-cutting, and putting the dough onto the baking sheet. Sharyne Rogers of Whispering Pines, NC and her granddaughter Nicki like to make up adventure stories about an imaginary friend. When the subject of table manners came up, Betsy Brint, who had been observing from the back of the room, advised: “Let the parents give the rules. If grandparents have too many rules, the kids won’t want to come over.” In an attempt to gain some semblance of control when our grandson Alan comes to spend the night, I allow choices. “Whose room do you want to sleep in, Mommy’s or Aunt Sally’s?” “Do you want to spend 5 more minutes in the tub, or 10?”
Dorothy Irvine of St. Ignatius, MT asked when or if one should discuss with your grandchild the subject of visual impairment. The concensus was that topics such as this are best handled by the parents. One grandmother said she uses the phrase “The Doctor Said” (as in Simon Says) when she wants the child to change activities. She said that when her grandchild starts rubbing her eyes, she says: “The Dr. said to play peek-a-boo.” In other words, suggest a new activity for those hands that are rubbing eyes.
As more people chimed in to share their successes and doubts, I started noting down all ideas on a large easel. Listed here are some of the Grandparents’ Tips or suggestions for activities:
Sports: tree-climbing, golf, swimming, karate, basketball, baseball, soccer, track (using a rope), horse riding, para-sailing and wrestling, and tandem bike.
Grandparents living far-away: Go easy on establishing rules when child visits (ice cream for breakfast, anyone?); send letters written in Braille, read over the phone, tell stories of your own early childhood days..
Art: paper-mache, clay.
Camps or Programs: Natural History Camp
Others: Take trips together, then reminisce. Play math games.
It was noted that we can all receive input and advice from Anthony Wright of National Association of Parents of the Visually Impaired.
At the meeting’s closing, everyone agreed to send some anecdotes or ideas to the FRR Newsletter, so we can continue to share in the interval between the LCA Conferences.
Don’t forget to write your thoughts to: Sally Lewinski, sally@tfrr.org or to me, Ronnie Schwartz, rozonrice@aol.com.
Lets keep up our energy, stay in touch, and enjoy those grandkids
Good Practices for Retina Health
Dr. Gerald Chader
Because the normal retina is a delicate neuronal tissue and has an extremely high metabolic rate it is vulnerable to damage from both internal and/or external sources. A genetic mutation in a gene and its resultant abnormal protein product as in Leber Congenital Amaurosis (LCA) makes the retina even more vulnerable when the particular protein is important to retinal function. Thus, taking good care of our retinas is a necessity in both normal and abnormal situations. Following are some practical suggestions for protecting the retina and for possibly even positioning the LCA patient to be eligible for one of the new treatments that are on the horizon
1) Antioxidant Supplements: Work from researchers in two noted scientific laboratories has recently demonstrated a positive effect of antioxidant supplements on preserving photoreceptor life and function in some animal models of Retinitis Pigmentosa (RP). Although no specific LCA model was tested, the fact that protection was seen in several animal models with different types of genetic mutations suggests that the effect is general in the retina and could very well pertain to LCA. The researchers found that, in the RP animal models, there were early signs of oxidative damage to the photoreceptor cells. This was followed by photoreceptor cell death. The administration of specific antioxidants to the animals both slowed the rate of oxidative damage and the extent of photoreceptor cell loss. A clinical trial is now in progress to see if a set of antioxidant compounds (Retina Complex) identical to those used in some of the animal studies is effective in human RP. Although the efficacy results are not yet known, the antioxidants seem to be safe at the 1 year mark of the trial.
Recommendation: In consultation with an Ophthalmologist and a family doctor, a regimen of antioxidant supplements could be considered. Most well known antioxidants including the carotenoids lutein and zeaxanthin, are thought to be safe “nutrients” rather than controlled “drugs”. Along with eye care, of course, antioxidants have been shown to be generally helpful in many body organs. Use of these supplements in children should be a decision made with your Ophthalmologist and Pediatrician.
2) Susceptibility to Light Damage: Much evidence has accumulated that excess light can be damaging to the retina – both in healthy and diseased retinas. Most of this work has been done in animals, with less robust work done in humans where results are more equivocal. In normal animals, for example, intense light quickly induces oxidative damage in the retina and the induction of protective antioxidant enzymes. However, with continued exposure, photoreceptor cell death occurs. The administration of antioxidant agents to animals markedly reduces oxidative damage and photoreceptor cell degeneration. Mounting evidence in the human suggests that exposure to light (e.g., sunlight) can also lead to retinal degeneration, at least in promoting agerelated macular degeneration (AMD). In all these situations, blue light, in particular, is the type of light that seems to induce the most damage. This may be through photosensitizers in retinal pigment epithelial cells with secondary but then severe damage to photoreceptor cells. A good deal of evidence also links ocular cataracts with strong light exposure. Visible light is only a small component of the full range of energies of the electromagnetic spectrum. It is intermediate between gamma-rays and X-rays at the low wavelength range, and microwaves and radiowaves at the longer wavelengths. Scientifically, the human eye perceives light only in the 400-700 nanometer (nm) range. Within this range, the colors violet and blue are perceived at the shorter wavelengths (e.g., 400-500 nm) ranging up to reds at around 700 nm. As you might guess, ultraviolet (UV) irradiation is also present just below the 400 nm level. Although it is not visible to the human, it can be dangerous to human health in several ways.
Recommendation: Given all this information, it is prudent to protect one’s eyes from intense light such as bright sunlight. In particular, sunglasses with “blue blockers” should be used to make sure that as little blue light (lower wavelengths) as possible penetrates the eye. No specific data on light effects in LCA patients is available but theoretically, intense light could be even more damaging to retinas that are partially compromised due to a genetic mutation. Thus, all children with retinal dystrophy should wear sunglasses when they go outdoors. Finally, because the use of antioxidant agents has been found to decrease photoreceptor death in animal models of light damage, use of such nutrients could also be useful in this regard as well as the more general situation described above.
3) A Good General Diet and Exercise: Everyone understands that a good diet and moderate exercise is good for one’s general health. It is also good for maintaining good eyesight. As in the situations described in the above examples, LCA patients have not been specifically studied with regards to diet and exercise, but enough general information is available to make some safe and practical suggestions to stave off other debilitating eye diseases as well as potentially help in LCA.
Recommendation: First with diet, balance and moderation are the key words. Diabetes and diabetic retinopathy (blindness) can be brought on by a diet too rich in calories combined with too little exercise. Secondly, a diet that is rich in antioxidants is very important. Fruits and yellow or green vegetables are excellent because of their high antioxidant value and low fat and calorie content. Eating fish, especially fatty fish such as salmon, mackerel and trout, twice a week is highly recommended for everyone. This probably supplies the weekly need for important omega-3 fatty acids for the ordinary person.
4) Genotyping: Finally, a good practice would be to get genotyped if there is LCA in your family. An important benefit would be that your Ophthalmologist could be more precise about the exact diagnosis and better predict the course of the disease process. More importantly, it could prepare you or your affected family member for the potential of treatment by gene replacement therapy in the future. Knowing now a large number of genes whose defective mutations lead to LCA, it is likely that scientists could determine the mutated gene in your family in a reasonable time frame. Success in the current gene therapy clinical trials may make such therapy a general reality in the future.
Have you heard... Effective January 1, 2009 the FRR will be a 501 (c)(3) "Public Charity." This means we are now eligible for Matching Gift Programs. Thank you to all contributors to the Foundation for Retinal Research to help make this possible.
Dear Friends:
By David Brint
OK, I admit it. The newsletter is late because of me. Three weeks late, in fact. I delayed as I contemplated what I wanted to write in the face of so much negative news. All we currrently hear about is economic crises, foreclosures, America's dollars headed to oil-producing nations, genocide in Sudan, global warming, nuclear weapons in the hands of enemies, terrorism on the rise and leaders without answers. Wherein can we find hope? And then it became clear to me. Hope is exactly what FRR provides. Hope that through our resolve, hard work, ingenuity and dedication we will better the lives of our children and families. The hope and likelihood is that our work as FRR volunteers and our dedication to research will improve the lives of all people with visual impairments. As each of us dedicates ourselves to change the world a little bit, surely the result will be a brighter hope for the future.
A Different Kind of Place:LSC is unique
By Patti Maffei
There are many residential rehabilitation centers throughout the U.S.; however the Living Skills Center for the Visually Impaired (LSC) is unique among them. LSC was founded in 1972 to fill a specific need, teaching transition skills to young high school graduates who grew up with a visual impairment. From its inception, specially trained, dedicated instructors have been teaching students one-on-one and customizing students’ lessons to meet their individual needs, goals, interests, and abilities. For up to one year, students are taught in their own apartment that is situated among sighted neighbors. Since LSC students do not live in dormitories with meals cooked for them, they learn to cook, clean, grocery shop and take public transportation on their own. Students learn financial management skills, including: managing their own bank account, building a personal credit history, paying rent and bills out of their own income, and making their own financial and personal choices. In LSC’s state of the art adaptive technology program, students are introduced to the newest adaptive technologies and are taught to use technology that best meets their unique needs. In addition to the classes offered, students can attend college or work part time while attending the program and are encouraged to participate in the many recreational opportunities available in the San Francisco Bay area.
LSC has continued to evolve while maintaining the same mission of teaching adults the skills necessary to transition into society. As popularity increased in California for this unique model, LSC began to include people who lost their vision as adults and most recently was able to open the door for people to come from other states into the California program.
Samir Shaibi, former student and current Living Skills Center instructor tells it best. “As a person with a degenerative vision loss (retinitis pigmentosa), transitioning into a life of blindness seemed frightening and insurmountable. I did what many do in the same situation; I waited until I no longer had enough vision to perform independently in a sighted world. The Living Skills Center provided for me an environment where I could build a foundation of adaptive life skills that I once took for granted as a sighted individual. This has not only given me the confidence to live my life to it’s fullest potential, but now, as an instructor of the program, has allowed me to repay the gift that was bestowed upon me…the gift of independence.”
For more information visit livingskillscenter.org or call (510) 234-4984.
This newsletter is sponsored by the SPECIAL KIDS NETWORK
