The newsletter for families and supporters of the Foundation for Retinal Research
FRR Visions
February 2009 http://www.tfrr.org/ • info@tffr.org • 1-224-927-5063 Sally Lewinski, editor
Family to Family: Will’s Dream
By Katie Thames |
Will Thames is our 7-year-old little boy with a big dream. He wants to be a radio broadcaster just like Garrison Keillor, the host of Prairie Home Companion, Will’s
favorite National Public Radio show.
At school, Will’s class was assigned a project called "What I want to be when I grow up." The teacher had one specific request: all students must have a visual aspect in their presentation. When my husband and I heard about this requirement we asked
the teacher if it would be okay for Will to substitute an audio aid, and she agreed.
In order to comply with this directive, we decided to try contacting Paul Stribling, the program director for WFAE (the NPR affiliate in Charlotte, NC), to see if he could help with Will’s report. SUCCESS! Will was invited to the radio station for a personal interview. It was the thrill of a lifetime. We all went to the station and Will was ushered
into a special broadcasting studio where the interview would take place.
Mr. Stribling was extremely kind. He recorded the interview and put it on a CD for Will to use as the special audio aid for his school presentation.
Will was so excited - - it was truly heart-warming for us to watch him. He had worked very hard preparing and practicing his interview questions, and he behaved like an angel. With perfect manners, he was completely focused and did an amazing job. Will’s school project gave him a unique opportunity to have a “hands-on” idea of what being a radio broadcaster is like. Since his visit to the station, Will is more determined than ever to fulfill his dream.
Associate Board members needed
By Mike Cornell
Winter is upon us and hibernation mode is in full effect. That said, much
continues to happen in the world of vision loss.
Researchers are making great strides relative to treatments for retinal degenerative diseases while communication efforts via the internet and in-person conferences are
arguably on the rise.
The FRR Associate Board recognizes this forward momentum and is meeting bimonthly
to discuss what can be done to help raise the much needed funds that are critical
to making all of the above possible.
To ensure the AB continues to make an impact, we are looking for interested
individuals that are eager to participate in a group setting. Members serve a two-year term, focusing on grassroots fundraising and maintaining a strong line of communication between the FRR and its constituents.
For information and those interested in volunteering for the Associate Board, please
contact me at michaelc@brinshore.com
7th Annual LCA Triathlon is June 28 in Wisconsin
By Chrissy Cornell
Since our 6-year-old daughter, Sela, was diagnosed with LCA our family has been on a journey of discovery.
One important part of this journey is the LCA Triathlon Fund-raiser benefiting theFRR. As we reflect on this annual event, we realize it has become more than just a fundraiser. It has become the most special day for Sela, one that celebrates her and brings people together. Not only does the event allow us to raise awareness about vision impairments and funding for medical research, it empowers Sela and many of her friends to know they can make adifference. With this in mind, we can’t wait for June 28.
Betsy's Corner
This month’s column comes from Sue Blumberg
I am an outsider looking in to the world of visually impaired people. My exposure has been limited to those I see in my community environment. That environment includes Alan Brint and the Brint family. It is amazing for me to see how Alan’s presence
in our community has changed the views of so many. We have not been exposed to the challenges that the Brints have, but watching them and being apart of their lives translates into how we change our day to day lives.
I am not saying that Alan is a superstar in adapting to changes in his life,
although he clearly is, but we in the community have been able to adapt with him. Our schools have accepted and accommodated his needs. Our children have learned acceptance of others and that to truly accept someone else is to become involved in that person’s differences. As simple a task as changing classrooms between periods, to the descriptive writing of an essay, our children witness what it is like for a visually
impaired person to accomplish the same goals. We may all do these things differently, but in the end we all get to the same place. Within our own limits, we seek ways to overcome our disabilities.
Exposure is the key to acceptance and community involvement. My children have witnessed and participated in programs in their schools where children spend the day blind folded to experience what it is like tobe visually impaired. They had to go through the day trying to figure out how to dress, eat, find their way around and interact with others. What an “eye opening” experience that none of them will forget. One of
the other projects in the school was to make sure that all the room signs and doorways were clearly marked with Braille, so that everyone could find their way.
The expression “if you tell one person and that person tells one person and that person tells one person… look how many people would know” surely plays out for FRR. As each community learns about FRR and each of us does all we can to spread the word about the progress being made towards vision, a cure is sure to be closer for all people that are afflicted.
We have seen the community’s attitude grow. The grade schools embraced Alan Brint first, then the middle schools grew with him and soon the high school will be a part of his life. The more kids see what can be done for others, the more involved they will be in the future and whether it is FRR or another worthy cause, it takes a village to raise a child and we can each make a difference.
Best Book Resources for Parents of Visually Impaired Children
If we were to put together a library for parents of Blind children, this is where we would begin ...
In Children with Visual Impairments: A Parents' Guide, Cay Holbrook and other parents and professionals discuss issues of concern to parents of children of all ages.
Helping Children Who are Blind: Family and Community Support for Children with Vision Problems is a great book to begin with. It's written very simply with lots of pictures and provides very practical advice, including a guide to making your own toys for blind children atthe end of the book. This is a great book to give to a family member who wants to learn more about vision impairment but doesn't want to get into the technical details.
If you're looking for a parenting book, Living and Learning With Blind Children: A Guide for Parents and Teachers of Visually Impaired Children is your answer.
This book discusses issues like self esteem, sexuality, and socialization.
Reach Out and Teach: Meeting the Training Needs of Parents of Visually and Multiply Handicapped Young Children is always the number one book recommended by teachers of the visually impaired. This book is a teacher's guide, explaining how to teach your blind child new skills like self feeding, walking, or toilet training.
Developmental Guidelines for Infants with Visual Impairment is a very technical manual but is still quite valuable. The authors summarize multiple studies on blind children and give you the results in one volume. They present this information in both articles and charts so you can look up what you need to know easily.
Patricia Maloney, who is the mother of a blind child, shares her experiences in her book, Practical Guidance for Parents of the Visually Handicapped Preschooler. This book is a great resource but is currently out of print. You may be able to find it used
on Amazon, Alibris, or eBay.
501(c)(3) ... our ‘little’ foundation grows
By David Brint, President, Foundation for Retinal Research
In late 2007 we had to decline several substantial contributions from corporations or foundations because FRR was a private but not yet a public 501(c)(3) organization. Our initial reaction was that was too bad but our “little” foundation obviously couldn’t qualify as a public not-for-profit. Nevertheless, to explore the possibilities, we took the time to sit down with an experienced lawyer to examine what it would take to be approved by the IRS as a public nonprofit.
Our lawyer explained the criteria examined by the IRS in giving this designation, and made it clear that the qualification process was sometimes lengthy and usually not easy. She asked many threshold questions. How many contributors do you have? How is your money raised? What publications do you have and how widely are they
distributed? How many visits to your website annually?
We gave her our answers:
• Over 2,000 people made contributions to FRR in each of 2006 and 2007.
• Money is raised through contributions from families and friends and in over 20 events run nationwide.
• We periodically publish and send out a newsletter to over 600 contributors and
volunteers.
• The FRR website provides weekly updates of the latest periodicals and articles in our field of interest.
• Over 26,000 inquiries are made annually to our websitewww.tfrr.org.
This information was accumulated by counsel and submitted to the IRS in
February, 2008. By May we heard the good news...that FRR was approved as
a public 501(c)(3) organization. FRR has always been tax-deductible but having been a private charity it had not been eligible for corporate matching gifts. With this new
501 (c)(3) classification FRR is now eligible for most corporate matching programs,
foundation grant programs, and therefore, hopefully, significantly more
contributions will come in to assist us in achieving our mission.
Not bad for a “little” organization.
MUSIC & YOUR BABY: Using Music to Stimulate Your Visually Impaired Baby By Amber Bobner
As the parent of a blind baby you've probably heard many doctors and well-wishers advise that you stimulate your child with music, but there has to be more to it than just plopping your baby down on the floor while they listen to Mozart on the stereo.
We'll give you some practical ways to incorporate music into your little one's day that will actually help them orient themselves and stimulate learning...
Music & Orientation
It's fun to play music for your blind baby and it can be very soothing, too. But there's more to the world of sounds than just music. If music is incessantly playing in the background, important household noises may be muffled. Blind children need to learn how to orient themselves in their environment and they need to learn how to use their other senses besides sight to figure out what's going on in the room. For example, you may not even notice the ticking clock or humming refrigerator, but your child can learn to use these noises as clues that she's in the living room or the kitchen. Teach your child how to distinguish and understand important noises before you get too excited about playing them music twenty-four hours a day.
On the other hand, you can use music to orient your child, too. For example, if your child is playing out in the yard, you can place a stereo or radio in the window so he can locate the house by sound. Or maybe dad always listens to the radio while he works in his office. Your child will soon recognize that the room with music is dad's office.
As your blind baby learns about dept hand space, you can walk through the house pointing out different smells and noises and teaching her that each room is different. One great exercise is to play music in one room, then walk in and out of that room. Your baby can learn that you are moving closer and then farther away from the room by listening to the music getting louder and quieter.
Musical Instruments
Plucking guitar strings or banging on piano keys is an excellent way to improve your baby's fine motor skills. Don't expect him to play anything melodic just yet, but do encourage him to feel, grasp, bang, or pluck at any number of instruments. All this
plucking and grasping can really get the fingers moving.
As your baby begins to associate excitement and fun with these instruments, you can also use the toys as incentives for your baby to move or locate an object. Just play a little note on their baby piano and ask your baby to"Come find the piano!"
Instruments, like a piano, are also a great way to teach cause and effect. When your baby bangs the keys, they make a sound. Eventually, he'll figure out that he is making that sound himself. This is a very important concept.
Finally, when you are playing with an instrument make sure that it doesn't just appear and disappear into thin air -your blind baby can't see the object come and go. Play a few notes on the piano as you bring the keyboard to your baby, then do the same as you take it away. This will teach him that objects move through space, that things
don't simply appear out of nowhere, and it may also encourage him to reach out
for the expected toy. Better yet, as your baby gets older, encourage them to move to the instrument (which is kept in the same location, of course) rather than waiting for the instrument to come to them.
Sing Together
Most kids love to sing their favorite songs over and over. Blind children, though, are often unable to break out of the mimic stage of language development and end up repeating songs and phrases over and overwithout really understanding what
they're saying. Rather than allowing your child to pick up and repeat pointless songs, teach her meaningful songs that will encourage language and growth. Songs like Head and Shoulders, Knees and Toes teach body awareness and the names of body parts.
Soothing Sounds
Another way to use music is to encourage an unmotivated child or calm a distressed child. For example, if you're introducing your visually impaired child to a new environment, it may seem frightening to her. Try placing her in a comfortable corner witha stereo playing soothing music set between her and the rest of the room.
Lower the volume gradually until shebecomes accustomed to the new noises
in the room.
Visit http://www.tfrr.org/ for more information on music and your visually impaired baby.
PIES FOR EYES
By Katelyn Corey and Daniel Huskey
California fundraiser helps raises ‘sweet’ money for FRR
Notre Dame College Preparatory, a high school in the Sherman Oaks district of Los Angeles, has maintained a mission of community outreach for over half a century.
The Sophomore student council recently led a fundraiser to support the Foundation for Retinal Research through selling pies.
The idea for “Pies for Eyes”, as the event was called, was brought about by Katelyn Corey, a member of the student council with Leber's Congenital Amaurosis (LCA).
The Sophomore Student Council sold 12 apple pies and 12 pumpkin pies from Costco, and the Notre Dame Grillers Club cooked and sold hot dogs.
The Grillers and the Student Council made a combined $196.51 for the FRR. The event was a great success, and the contribution will hopefully benefit the FRR greatly.
FRR wishes to publicly thank the Sophomore Student Council and the Notre Dame Grillers Club for their successful efforts on our behalf.
‘Angel Delights’ a real treat
By Dorothy Irvine
It was sheer joy to be with my family and grandchildren for Thanksgiving. What better way to give thanks than to create a lasting memory. So, Baba (that's me) and my three grandchildren, Sela, age 6½, Paige, 3 and Hans, 2½, baked "Angel Delights," a healthier version of Rice Krispy Treats and an easy and fast recipe that can be created by children in the palms of their hands. We had fun cooking all the ingredients in a pot and stirring it all together; and once cooled, squishing the dough in our palms to form balls. Each Cookie is 52 calories, 2g fat, 3mg cholesterol, 10g carbohydrates, 0g protein, 0g fiber, l5mg, sodium, 39mg potassium.
l/4 cup unsalted butter
1 cup sugarl½ cups chopped pitted dates (8 oz)
l/8 teaspoon salt
l t vanilla extract
2 cups Rice Krispies
1 cup shredded coconut
l. Combine butter, sugar and dates in a large saucepan. Cook, stirring constantly, over low heat until the butter is melted and the mixture resembles a paste. Remove from
heat.
2. Add salt, vanilla, cereal and coconut; stir well to combine.
3. When cool enough to handle, squeeze and roll the mixtureinto l-inch balls. Place on a wax paper-lined baking sheet.
Refrigerate until chilled.
Gene Therapy: A Cure in Sight
Dr. Gerald Chader
Gene Replacement Therapy in a form of LCA appears to be working. While yet premature to make a definitive statement, all seems to be going well in current Clinical Trials that are studying the replace of the defective gene in the eye in a form of LCA with a mutuation in the RPE65 gene.
The story is now many years in unfolding, starting with the discovery and cloning of the RPE65 gene by Dr. Michael Redmond at the National Eye Institute. Subsequently, a defect in the gene was found to be at the root of the problem in a subset of LCA patients. At the same time, Dr. Gus Aguirre at the University of Pennsylvania was assembling a colony of Briard dogs that demonstrated an early form of blindness that seen in children with LCA. It was soon found that the Briard had the same mutation in the RPE65 gene as in the human, affording an excellent animal model for testing the possibility of gene replacement.
In 2001, a consortium of investigators including Drs. Aguirre, Acland, Bennett, Hauswirth and Jacobson reported that indeed, replacing the mutated RPE65 gene with a normal copy in dogs was extremely successful in sight restoration. Many dogs subsequently have been treated at an extremely high rate of success. Dogs treated in 2000 and 2001 yet see well in the treated portions of their retina, demonstrating the long term nature of the effect. Significantly, even some older dogs treated at an advanced stage of disease demonstrated significant sight restoration.
This success has led to three ongoing clinical trials, two in Philadelphia (Drs. Bennett and Jacobson and colleagues) and one in London (Dr. Rubin Ali and coworkers). As the trials are yet in their early stages (Phase I), only preliminary reports are available from the investigators as to success. In a public report at a recent meeting in Toronto, Canada, one of the LCA subjects described his improved vision soon after the operation; objects became clearer and color vision improved. For example, a blue sky could be visualized for the first time. Although these are only preliminary, subjective reportss from a single individual, such improvement is impressive in light of the fact that he received only a low dose in the current early (Phase I) part of the trial.
What is next? Certainly, the current trials will continue. We hope that some definitive announcement as to the early results can be made this coming spring and that, in the near future, gene therapy will be available to all RPE65 patients. In parallel, preclinical studies are currently being conducted to prepare for Gene Replacement Therapy on other forms of LCA. In particular, the FRR is backing a consortium of outstanding investigators in three countries in studies that could lead to therapy in patients with an LCA5 mutation. Hopefully, this will open the flood gates for all types of LCA and at least afford a good treatment - if not a real cure.
Multidisciplinary Team Researching Gene Therapy For Human Degenerative Retinal Diseases
A Canadian and American research group including the team of Dr. Robert Koenekoop from the Research Institute at the Montreal Children's Hospital of the MUHC has just been awarded $2.4 million from the Canadian Institutes of Health Research (CIHR) and the Foundation Fighting Blindness Canada (FFB). This five-year grant will fund an ambitious research project to develop innovative gene therapies for a number of human degenerative retinal diseases.
The complementary skills of the five research teams involved will provide the multidisciplinarity required for success in this research project. The project will be led by Dr. Robert Molday, a cell biologist from the University of British Columbia . The team's other experts in gene therapy are Dr. Jim Hu from the University of Toronto , and Dr. Bill Hauswirth from the University of Florida . Dr. Marinko Sarunic of Simon Fraser Universtiy will be responsible for the retinal imaging component of the project.
As the team's clinician -scientist, Dr. Robert Koenekoop will oversee the visual function testing and the gene analyses, first in animals and then in humans with a variety of retinal degenerations. After several years of testing in animals, human patients will be injected with the "new healthy gene" that aims to partially restore vision.
We hope to begin a human gene-therapy trial in Canada within five years for three specific degenerative retinal dieseases: Leber Congenital Amaurosis (LCA), Stargardt macular dystrophy and retinitis pigmentosa," Dr. Koenekoop explained. "Previous attempts with the gene named RPE65 have been highly conclusive for LCA: we believe that we can learn from that and advance even more quickly this time. It's very motivating.
The Missing Math Link:
Nemetex translates Nemeth Braille Math into sighted print in a matter of seconds
It is said that necessity is the mother of invention. That is especially true for
Nicole Torcolini, a blind high school student from Silverdale, Washington who invented
Nemetex Nemeth Back-Translator computer program, designed to save Braille
transcribers hours of manual effort by quickly adapting Nemeth math work for sighted recipients.
Before Nemetex, there was no means available to print Nemeth Braille Math typed in Computer Braille in plain printsuch that parents, teachers or peers of visually-impaired mathematicians could read it. Without Torcolini’s Nemetex, someone -- typically a Braille transcriber-- painstakingly inter-lined every piece of math homework, project, paper, thesis or test created in Nemeth Braille.
Frustrated with having someone translate her work – and thus eliminating here 1-on-1 interaction with her math teacher – Torcolini wrote computer code that takes Nemeth math and quickly converts it into print in amatter of seconds.
She has started her own company, Accessoft, and has begun selling Nemetex to others for the paltry sum of $99, a bargain considering the cost of other accessibility software.
“While I have a BrailleNote and am fluent in Nemeth Braille Math, I found there was no means available to print-out my math work in plain print so that my parents, teachers or peers could read it,” she said. “For a long time, my Braille Transcriber was interlining every piece of math homework, project or test I created. Then, after
starting AP Computer Science, I thought I would take-on the challenge of developing a
computer program which could convert Nemeth Braille Math in Computer Braille
(produced on a six-key entry-capable Braille Notetaker, such as a BrailleNote) into LaTeX so it could be read by any standard LaTeX editing program, such as TeXnicCenter.”
The resulting file could, depending on the LaTeX being used, then be hardcopy
printed in normal printed math orsaved to a Portable Document Format (PDF) file for electronic transfer to my teacher via e-mail for portable media.
After almost a year of development, testing and refining, Torcolini produced a break-through Java-based computer program which totally eliminates the need for inter-lining of documents produced containing mathematical expressions, and especially those
containing a mixture of math and normal text.
"Nemetex is the final missing link to myBraillereaders' success in math,” said
DeeAnn Pennington, who has twochildren who use Nemeth. “As a sighted parent, it was often very difficult for me to read the Nemeth code that she turned in each day. But
now with Nemetex, I can read over the work and helpmy child be the best that theycan be. We've waited years forthis program, and it is fantastic."
The current edition includes all mathematics through Algebra II, Geometry, Trigonometry and pre-Statistics and pre-Calculus, so it will accommodate the math work of students from the elementary to the high school level. Ultimately, Torcolini
plans to expand the capabilities of theprogram into College and then Advanced Professional Editions.
For information on Nemetex, please visitwww.accessisoft.com
The Foundation for Retinal Research
666 Dundee Road, Suite 1104
Northbrook, IL 60062
http://www.tfrr.org/
This newsletter is sponsored by the SPECIAL KIDS NETWORK
