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Post by Ms. Kathy on Mar 14, 2005 12:30:49 GMT -6
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Post by Ms. Kathy on May 1, 2007 7:31:54 GMT -6
Ushers Syndrome
Source Link: Ushers Syndrome: Definition, Symptoms, and Treatment - Kellogg Eye Center--http://www.kellogg.umich.edu/patientcare/conditions/ushers.html
Definition
Ushers syndrome is a form of Retinitis Pigmentosa (RP), with associated deafness. Ushers syndrome is the cause of approximately 10% of all hereditary deafness, with deafness existing at birth or developing soon afterward. The eye symptoms of RP appear later, usually by the age of 10, and start with night blindness. Visual acuity continues to decrease as the child grows older, and may result in complete blindness by midlife.
People with RP may develop other treatable eye diseases, such as glaucoma and cataract.
Symptoms
Hearing loss
Night blindness
Loss of peripheral vision
The symptoms described above may not necessarily mean that you have ushers syndrome or retinitis pigmentosa. However, if you experience one or more of these symptoms, contact your eye doctor for a complete exam.
Treatment
Currently, there is no specific treatment for persons with Ushers syndrome or RP. Genetic studies of RP are a significant factor in finding a cure or prevention for this disease. The U-M is performing research on genetic factors of RP.
Research
Researchers at the Center for Retinal and Macular Degeneration are not only conducting cell-biological research on these eye diseases, they are vigorously working on molecular genetic aspects of X-chromosomal retinal/macular dystrophies. The molecular information obtained in testing has become critical, in some cases, for refining diagnosis. The investigators at the University of Michigan Department of Ophthalmology have broad experience with the molecular genetics of a number of retinal conditions. In addition to research relating to Ushers syndrome, other research areas include X-linked blue cone monochromacy, X-linked cone dystrophy, Best's macular degeneration, Stargardt's macular degeneration, Sorsby's hemorrhagic macular dystrophy, and Choroideremia.
Clinic Information
For more information, see the Retina, Uveitis & Ocular Oncology Clinic at the U-M Kellogg Eye Center.
University of Michigan Kellogg Eye Center | 1000 Wall Street, Ann Arbor, MI 48105 | 734.763.8122
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Post by Ms. Kathy on May 10, 2007 12:11:35 GMT -6
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Post by Ms. Kathy on May 15, 2007 10:02:52 GMT -6
Source Link: Courant.com www.courant.com/news/local/hc-sufblind0513.artmay14,0,99026.story?coll=hc-headlines-local For A Risky Corner, The Sound Of Relief Hearing, Visually Impaired Man Gets His Wish By LYNN DOAN Courant Staff Writer May 14 2007 SUFFIELD -- Once installed, the little black box at the intersection of Mountain Road and North Main Street will emit a low buzz when it's OK to cross the street. Some may ignore it. Some may even find it distracting. But it will be there for a reason. It will be there for David Blake. Blake, a 29-year-old Suffield native, has Usher's Syndrome, a rare genetic mutation that has destroyed his hearing and is slowly eating away at his vision from the outside in. Flesh-colored hearing aids, hooked around both his ears, soak in 90 percent of the sounds around him. But glasses can't aid Blake's worsening tunnel vision, which one friend describes as "putting a toilet paper roll in front of you and looking into it." He feels his way through town with a collapsible cane. The audible traffic signal, scheduled to arrive at the intersection in the next few months, is being installed specifically for Blake, who requested it through the state Board of Education and Services for the Blind. There's a person like Blake behind every audible signal in Connecticut because the state only heeds the requests of those who are visually impaired. The signals are never randomly installed, and a sighted resident simply looking for another safeguard at a busy intersection is out of luck, said Philip Cohen, a supervising engineer for the state Department of Transportation. "Basically, it's so I know when to go," Blake said of his soon to-be-installed signal, "but it's also so cars know when I'm coming." Blake sees the major intersection as a safety hazard for everyone who crosses it. When he approaches the corner, the beat of his cane against the sidewalk quickens. He can hear the cars whizzing past and, when he swings his head from side to side, he can just narrowly make them out. "These cars just fly by, don't they?" he says. "Things are going to be a lot safer up here." Blake and others like him have for years been pitted against a group of advocates who consider the audible signals to be a nuisance. Blind pedestrians who've traditionally listened for the sound of traffic to determine when it's safe to cross say the constant ringing of an audible signal is disrupting. "It blocks the sound of traffic," said Alfonse DeLucia, president of the National Federation of the Blind of Connecticut. "It changes the environment, and you don't know when a driver is plowing through anymore." The debate has created a chasm between two of the country's largest organizations for the blind, the National Federation of the Blind, which has generally frowned upon the signals, and the American Council of the Blind. The council has been pushing for legislation at the local and federal levels that would standardize the practice of installing audible and vibrating signals, known together as "accessible pedestrian signals." "There seems to have been a realization of the need for accessible signals everywhere," said Philip Strong, the council's transportation and advocacy specialist. "We are the same as any other person. We go to different places. We shop in different places. We change jobs. We change where we live." Blake says the politics are beyond his comprehension. He simply sees the audible signal as a safety precaution and, recently, his desire for one has grown. After months of searching, Blake has landed a part-time job filing paperwork and running errands for a dentist on Mountain Road. The job is a milestone for Blake, whose abilities are often hidden behind his walking cane. "They see David walking in with a cane and hearing aids and they automatically think he can't do anything," said Blake's mother, Jane Blake. The National Federation of the Blind of Connecticut estimates that people who are blind face an unemployment rate above 70 percent, primarily because the public underestimates their capabilities. Dr. Peter Coombs, who has been Blake's dentist for 13 years, admitted that employing Blake took some getting used to. "At first, we weren't too sure we had enough for him to do because his vision is really poor," Coombs said. Now, he said, it seems that Blake has "become a part of us." "It turns out that there are things for him to do that are not going to create an issue for him or us," he said. "He brings candy for people in the office, and he's always early." That's because Blake leaves his studio apartment about 8:15 a.m. for the half-mile trek to work. To reach Coombs' office, he must cross the intersection at Mountain Road and North Main Street. Perhaps, once the audible box is installed, he says, he can sleep in just a little bit longer. Contact Lynn Doan at ldoan@courant.com. |
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Post by Ms. Kathy on Mar 11, 2008 12:22:21 GMT -6
My baby, right or wrongRebecca Atkinson has not had her unborn baby tested for Down's syndrome. She knows some people will say that was irresponsible. But how, as a disabled person herself, could she let her child's physical condition decide whether or not it was born?Rebecca Atkinson Monday March 10, 2008 Source Link:GuardianUK: Life & Health styles section: lifeandhealth.guardian.co.uk/family/story/0,,2263853,00.html You're pregnant. Hurrah! Stand back and await the unsolicited tummy tickles from strangers and remarks that you are "freakin' massive" from old friends. Everyone is free to poke and ask and wonder. Have you had morning sickness? How much weight have you gained? Do you want a boy or a girl? Questions, questions, questions. But if, like me, you are a disabled mother-to-be, there will be one more question from the well-meaning inquirer. Unlike the others, this may not actually be spoken, but it will be there, teetering on the tip of their tongue, while they wonder nervously whether it would be politically correct to take the plunge. What people really want to ask is: "Could that rogue of a gene that causes your sight loss have tumbled from one generation to the next, afflicting your unborn child with more than just your genetic predisposition for being bad-tempered or having big ears?" The answer is that while it's possible, it's extremely unlikely. I've got Usher syndrome, a rare genetic condition that causes partial deafness from birth and the gradual loss of sight in adulthood due to an eye condition called retinitis pigmentosa. In short, I was born partially deaf and now I'm going blind. Doesn't sound very desirable, does it? To most it's the stuff of nightmares; as one father wrote on his blog after reading about the condition while researching what might have caused his son's deafness: "Usher syndrome gave me the experience that the cliche calls 'chilled to the marrow'. It's a cold start, a real glimpse of horror." The condition is caused by a recessive gene, which means that for my child to be affected, my partner would have to carry the same gene. Scientists are still in the process of identifying the one or ones thought to cause Usher syndrome, so screening my partner or our unborn baby is currently not an option. But would I screen if I could? And if I could, what would I do with that information? Would I not have children if my partner was found to be a carrier? Would I terminate a pregnancy just because the baby was ... well, like me? Would I have IVF embryo screening to ensure that only "healthy" embryos were implanted? Unfathomable as it may seem, the answer is no. The thought of having a child with Usher syndrome doesn't fill me with the fear or abhorrence that it does most people. For that perceived "horror", that "cold start", is me. My life. And who is best equipped to cast a judgment - one based on reality rather than perception - about the "quality of life" of a hypothetical unborn baby with Usher syndrome? The doctor? The scientist? The bio-ethicist? Or the person already living that life? While I'm not denying that living with dual sensory loss can be limiting and frustrating, I can't say that it is a life less worthy of existence than another. And to say that I didn't want a child like me would be to negate my worth and send myself to the bottom of the pile. But this is all hypothetical, right? There are no tests for Usher syndrome and my baby is unlikely to be affected anyway. So what about the here and now? What about the ever-increasing prenatal tests that are available to expectant mothers? Contraception and legal abortion have long provided women with greater choices over when to have a child; now medical science is fast extending our degree of choice over the type of child we want to have too. Today, prenatal screening for foetal anomalies, neural tube defects, Down's syndrome, sickle cell and thalassemia disorders are offered as standard. While the idea of choosing the colour of your baby's eyes, gender or personality traits is still largely abhorrent, allowing parents greater choices in the ability of their unborn child, as opposed to any potential disability, seems logical to most. A survey on maternity by the Healthcare Commission found that, of the women who responded, two-thirds opted to screen for Down's syndrome, with rates in some centres as high as 97%. According to the National Down's Syndrome Cytogenetic Register, 94% of women who receive a pre-natal diagnosis of Down's syndrome terminate their pregnancies. If medicine can provide the tools, it seems the majority of us are happy to use them, especially if they can help avoid the "pain and suffering" and "low quality of life" which we so readily equate with disability. But what if, like me, you know that impairment need not be synonymous with "low quality of life" and that the "pain and suffering" we seek to avoid are largely inflicted not by the physicality of the disability itself but by the negative attitudes of others? Does pre-natal screening still feel like logical scientific progress? Something I am happy to buy into to ensure my first-born is top-notch? Or is it just a covert attempt to purify the human race of folk who don't come up to scratch, veiled in the guise of parental choice? Abortion has always been a clear-cut issue for me. I've shut the door in the faces of anti-abortion campaigners. I've kicked over the candles of vigil-holders brandishing plastic foetuses in tiny coffins as they heckled women visiting the abortion clinic near my home. I've always been a pro-choice feminist, firm in the belief that reproductive destiny belongs to the individual and choices to terminate should be made free from the value judgment of others. But as my 12-week scan approached I sat with a baby in my belly and a conundrum on my hands. I wondered about the little creature who was causing all that morning retching and midriff stretch. Would I - or indeed should I - take the test being offered for Down's syndrome? And if I did and the result was positive, would I/should I abort? In my view, a decision to test rests on the premise that a baby with Down's syndrome is at worst something that needs to be caught in the net and disposed of, at best something that needs to be emotionally "prepared for" rather than just accepted as a child that falls on a different part of the spectrum of human life from the next. Once I had decided that, even if it were possible, I wouldn't be willing to test for my own impairment, or terminate a pregnancy on that basis, the decision not to screen my baby for Down's syndrome came easily. After all, if I feel it's wrong to value a "normal" life over and above mine, shouldn't I extend that belief to all impairments, not just the one I know about because I have it myself? There: I'd made the "individual choice" about my reproductive destiny that the pro-choicer in me believes in. I had decided there was no way I would terminate my pregnancy on a positive diagnosis, so finding out if the baby has Down's was rendered obsolete. Like the colour of its eyes, hair, or sex, I'll wait until it comes screaming into the world to find out. It was an easy decision to arrive at, but a much harder debate to depart from. For it is here, where pro-choice feminism collides with disability rights, that my once black-and-white views suddenly become grey and I'm left struggling with the question of whether abortion is always justifiable, after all. The very fact that the choice to screen exists meansthat the woman can never win. If you terminate, you are left open to the moral scrutiny of pro-lifers. And if you decline screening, as I have, or continue a pregnancy after a positive diagnosis, you are left wide open to a charge of moral culpability, of burdening society with a disabled child. So who, if anyone, is morally culpable here? For me, the answer lies not in pointing fingers but in questioning the perception of disability as synonymous with undesirability. It's one thing if a woman is not ready for a baby: I stand by her right to choose in that instance. But is it OK to decide you are ready for a baby, get pregnant by choice and then terminate on the grounds not of your ability to be a parent, but of your desire to be a parent to a particular type of child? As science extends our capabilities to detect more and more conditions in the womb, as it inevitably will, I can't help asking if perhaps we should pause to ask if knowledge is always power. Should we have the right to determine who does and who doesn't get to inhabit the world? For, as my own father put it when I told him I wasn't going to screen his grandchild for Down's syndrome, "I'm so glad there wasn't prenatal screening when we were expecting you." If there had been, perhaps the genetically flawed person, the "glimpse of horror" that is me, would never have existed.
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Post by Ms. Kathy on May 15, 2008 11:01:56 GMT -6
May 9, 2008
Support agency offers 'a door to the world'
Lafayette plays key role in Louisiana initiative to better serve deaf-blind
Cody Daigle
cdaigle@theadvertiser.com
For Maria Garden, being born deaf-blind has been an isolating experience.
"I felt very disconnected from the world," she said through a translator. "Very alone. Like you have no way to keep in touch with the world."
But a statewide pilot initiative from Louisiana Rehabilitation Services is bridging that gap for deaf-blind citizens like Maria, and Lafayette's Affiliated Blind of Louisiana is taking a leadership role in the program's execution.
The initiative, which was launched in February, provides support service providers to deaf-blind residents in Baton Rouge, Lafayette and Lake Charles. Support service providers, or SSPs, offer deaf-blind individuals proper sighted-guide technique, transportation services and facilitate communication through various forms of tactile American Sign Language.
Affiliated Blind of Louisiana, which is in Lafayette, was tapped to train the program's SSPs and to pair them with deaf-blind applicants to the program statewide.
"SSPs are like the eyes and ears for the deaf-blind," said Bruce Dunn, coordinator for the SSP program. "They help them out in the world, giving them information about their surroundings, allowing them to do things like go to the grocery store, church, or social activities."
Naomi DeDual, executive director for the Louisiana Commission for the Deaf, explained how the program came into being. At a 2007 stakeholders' meeting of the Department of Social Services, members of the deaf-blind community came forward to share their needs. That personal plea focused attention on the needs of the deaf-blind.
"They shared with us the challenges they face doing things other people take for granted," DeDual said. "We realized there was a significant need in the state for this kind of program."
Patrick Prioux is a participant in the program.
"It helps me enjoy places a lot more," he said. "I can go out and do things and not feel like I'm isolated."
Garden agrees and says the SSP program also allows her to give back to the deaf-blind community. She works at Affiliated Blind, teaching personal management skills, such as cooking without vision.
"Without an SSP, I couldn't go to work," Garden said. "I have skills that I can teach others, and without an SSP, I wouldn't be able to do that."
The program is an important one for Acadiana, which has a significant deaf-blind community. Usher's Syndrome, an inherited condition that results in hearing loss and a progressive loss of vision, is common in South Louisiana. Prioux suffers from the disease, and both he and Garden have multiple family members who suffer from the disease
"Acadiana has a largest population of individuals suffering from Usher's Syndrome in Louisiana," DeDual said. "It's one of the main reasons Lafayette was selected to be part of the pilot initiative."
She also notes another reason the program is significant.
"We have an ever-aging population," DeDual said. "As people are getting older, hearing loss and vision loss are more common. These kinds of services are becoming more needed in many different situations."
So far, the program has been successful.
"The program is three months old," Dunn said, "and we're now seeing over 1,000 hours of services going out. And the program is growing fast."
Dunn said the program currently has 35 SSPs on the books, but an upcoming training will see that number grow to 60.
Lynn Blanchard, Executive Director for Affiliated Blind of Louisiana, has seen the impact of the program in the deaf-blind community at large.
"Since the program started, we've had social functions for the deaf and blind communities," Blanchard said, "and the number of people attending have doubled, sometimes more. And I think it's a direct result of this program."
Blanchard thinks the SSP program isn't just good for the people it serves, but also for the community as a whole.
"I think it lets the community know that the deaf-blind are a real part of our community," Blanchard said. "They're people who are living life as much as they can, and this program let's them do that as part of the community, not outside of it."
DeDual says the pilot program goes up for re-evaluation by Louisiana Rehabilitation Services in June. She hopes the program's success will be the kind of validation that will open the doors for the program to grow.
Dunn agrees.
"The deaf-blind people we serve value and cherish this program," he said. "It makes them happy. It gives them a door to the world."
"Amen," Garden signs with a smile.
Source Link: www.theadvertiser.com/apps/pbcs.dll/article?AID=/20080509/NEWS01/805090315/1002 |
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Post by Ms. Kathy on Feb 6, 2009 10:03:39 GMT -6
Degenerative eye disease may claim woman's sight, but won't take her positive attitude By Richard J. Alley, Memphis Commercial Appeal Thursday, February 5, 2009 Source Link: mdahelpinghands.blogspot.com/2009/02/degenerative-eye-disease-may-claim.htmlLynette Herman stares into the middle distance while listening to a conversation, occasionally offering up information, correcting her husband's memory or erupting with a sharp burst of laughter. There is levity in those steel grey eyes, and something else: a malfunction that reaches to the cells lining the back inside wall of the eyes. The mutation of a gene reaching back to at least the turn of the last century. She suffers from retinitis pigmentosa, a disease causing the degeneration of the retina and eventual blindness in some 100,000 Americans. Suffering, though, is not the way Lynette, or her husband, Dr. Martin Herman, would characterize it. While RP robs its carriers of eyesight gradually, usually taking until the age of 40 or so before rendering them legally blind, Lynette is anything but a victim, refusing to lose her positive attitude along with her vision. One can't help but notice the beautiful pool table just beyond the living room at the Herman house. Martin says Lynette never played. She, however, insists she did. "I just found out blind people can play golf, too," she says. "We're going to give it a shot," said her husband. RP is hereditary and can be traced back in her family, originally from Tupelo, Miss., to her great-grandmother, passed to her grandmother and then four of her grandmother's children, including Lynette's father. Her sister, three aunts and uncles and five cousins also have RP. Family reunions are full of people who know to touch when they approach to talk, never to move a chair and to not put a glass of Coke on a dark tablecloth. "I've known about it my whole life and wasn't just hit over the head with it," she said. Diagnosed with the autosomal dominant variation of RP, she was born with a 50/50 chance of having the mutated gene. Lynette, 56, first noticed her fading eyesight as a child with trouble seeing at night, a typical first symptom, eventually needing a pronounced contrast to distinguish objects in her environment as an adult. Her frontal vision is almost totally gone and she can see people and shapes better through her peripheral vision. She continued with life as normal until she had to stop driving in her 40s, which, she admits, was probably pushing it. "But," she said, "it didn't affect my life until then. I've had a full life." Lynette has been married to Martin, a pediatrics emergency specialist with Le Bonheur Children's Medical Center, for 25 years. The two have one daughter who, at 24, shows no sign of RP. The husband and wife banter, joke and pick at each other's stories. He's helpful, but is in no way a crutch. She doesn't need one, nor would she accept one if offered. Though they walk the neighborhood together; a walking stick is never used, as she is wary of drawing attention to herself. Martin walks ahead with their dog and calls out only if there is a break in the path or some other obstruction, such as the new street signs the city of Memphis placed in the middle of the sidewalks. Eating out, Martin says, is the most difficult activity, especially any place with mood lighting. "I load up two plates at a buffet. I hope people are understanding." The Hermans and Lynette's sister are all on the board of the Mid-South Chapter of Foundation Fighting Blindness (blindness.org), an organization that, according to their mission statement, "drives the research that will provide prevention, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher Syndrome, and the entire spectrum of retinal degenerative diseases." Dr. Stephen Rose, a molecular biologist and the foundation's chief research officer, is excited by the prospects of gene therapy and the possibilities of "turning off the bad copy of the gene and getting rid of the toxic product being made." He sees progress at institutions around the country, specifically at the Children's Hospital of Philadelphia. There three subjects in their late teens and early 20s received gene therapy for Leber congenital amaurosis, an inherited disease causing blindness at birth. Afterward, they were able to read three lines on an eye chart and navigate an obstacle course. The Hermans, naturally, are hopeful for a cure, or even a halt to the progression into blindness. But the issue isn't dwelt upon. Lynette fills her days with trading stocks online with the help of a Microsoft feature that switches an Internet browser's page to a high contrast, white characters on a black screen. She could read print up until last year and now downloads books into a digital recorder through a free program with the Library of Congress. She goes through two or three of these per week. She watches DVDs with a special feature that describes a scene aloud as a narrator in a novel might. "I like watching those movies myself," Martin chimes in. She does miss going to the movies, however. She cooks, she gardens and she researches products that might make her life easier, such as the Cobolt Speechmaster, a device which, when held against fabric such as a shirt or jacket, speaks the color of that item out loud. There are companies, too, working on cell phones with a bar code scanner that will tell the blind all of the information recorded in that code. But as helpful as these items are and will be, a cure and good care are the true passions of the Hermans. "Anyone who has eyesight problems should be getting creditable, reliable help," Martin says. "We don't want anyone to have false hopes through unsanctioned, unsafe practices." Until a cure comes along, she relies on her knowledge and familiarity with her condition, as well as her sense of humor and her husband, who attributes their long marriage to her blindness: "In her mind I'm still 35, with a head full of hair and no gray."
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