Gene discovery changes clinical practice
for care of deaf patient

UI Health Care News: Week of October 14, 2002

In 1997, researchers first identified a genetic cause of non-syndromic deafness—hearing loss that is the patient's only abnormality. Since then, the number of genes known to cause non-syndromic deafness has risen to 29. The rapid pace of discovery has generated great excitement among genetics researchers, and has changed the way physicians diagnose hereditary deafness.

Genetic testing is now becoming a component of clinical care for deaf children and their families. At University of Iowa Health Care , clinicians in the Division of Pediatric Otolaryngology, in conjunction with the Molecular Otolaryngology Research Laboratories, provide genetic testing for 800 families each year. Results of genetic tests can provide helpful diagnostic and prognosis information to these families.

Prior to 1997, in most instances, the only way to diagnose non-syndromic genetic deafness was to exclude all other possible causes of deafness, said Richard Smith, M.D., the Sterba Hearing Research Professor at UI Roy J. and Lucille A. Carver College of Medicine, and director of the Molecular Otolaryngology Research Laboratories.

"Typically, a physician would order a large battery of tests to determine if the mother had been exposed to an illness during pregnancy that caused the baby's deafness," said Smith, who recently was part of a research team that identified a new gene which when mutated can cause deafness. "Now, we don't need to order numerous tests because we know that 50 percent of congenital non-syndromic deafness is due to mutations in a single gene called GJB2. This single finding has changed the practice of clinical medicine."

GJB2-related hearing loss is considered a recessive genetic disorder because the mutations only cause deafness in individuals who inherit two copies of the mutated gene, one from each parent. A person with one mutated copy and one normal copy is a carrier but is not deaf.

In Iowa , 90 percent of newborns are tested for hearing. A probe placed in the baby's ear canals generates sound, and electrodes placed on the baby's head record brain responses to the sound. If this test indicates that a baby is deaf or hearing impaired, the newly available genetic tests may be able to pinpoint an exact genetic cause of the deafness. The Molecular Otolaryngology Research Laboratories at the UI offers mutation screening of three genes known to cause hearing loss, including GJB2.

Many deafness-causing mutations can occur in the GJB2 gene, but one particular mutation is most prevalent in people of Northern European decent, a group that includes most Iowans.

"This mutation arose as a result of a founder effect—one person has the mutation and passes it on to all of their progeny," Smith said.

"This particular founder effect occurred approximately 8,000 years ago, and one in every 40 people in the midwestern United States is related to that common ancestor."

Just as genetic testing has become part of diagnosing causes of deafness, so genetic counseling also has assumed an increasingly important role in the treatment of deaf patients and their families. Smith explained that many parents find genetic diagnosis and the accompanying genetic counseling beneficial. They are reassured by the information and the by the knowledge of a specific cause of their child's deafness.

Genetic tests and counseling also can give patients and parents information about the likely progression of a child's hearing impairment.

"We know that over the long term, deafness caused by mutations in GJB2 does not generally worsen. A child who has moderate-to-severe deafness caused by GJB2 mutations will have the same level of deafness at ages 10 and 20," Smith said. "That means that if the child is doing well with traditional amplification (hearing aid), they don't necessarily have to worry about further deterioration of hearing."

Current genetic tests have helped improve patient care; however, they do have limitations and subtleties that need to be recognized by health care providers and patients alike. Whereas a positive result establishes with certainty the cause of deafness and also can quantify the likelihood of deafness in future offspring, a negative test does not definitively prove that the deafness is not genetic.

Also, unlike many other medical tests, results of an individual's genetic test have direct implications for other family members. If a child of hearing parents has GJB2-related deafness, it means that both parent are carriers and the child's hearing siblings have a two-thirds chance of being carriers.

Carrier-testing is not recommended for children because carrying one mutated copy of the gene does not cause deafness and therefore has no effect on the child's life. However, the ability to test for susceptibility genes raises the larger question of whether relatives should be told the results of an individual's genetic test or whether those results should remain private as is usually the case with medical information.

Smith also notes that while hearing parents of a deaf child might seek treatment such as hearing aids and cochlear implants, the situation may be different for deaf parents of a deaf child. People who are born deaf and identify themselves with the Deaf community consider deafness an integral part of their culture, and their language (sign language) is simply another language like English or French. The Deaf community does not believe that deafness is something to be treated.

Therefore, it is important that genetic testing and genetic counseling be provided in the context of each patient's wishes and needs, Smith said.

URL: http://www.uihealthcare.com/news/news/2002/10/14genediscovery.html

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Gene therapy could treat deafness

By Michael Hoffman
UPI Science News
Published 5/31/2003 1:11 PM

University of Michigan researchers say they have made a breakthrough that could lead to new treatments for human deafness and age-related hearing loss -- they used gene therapy to grow auditory hair cells in a mammal subject.

The hair cells, found in the inner ear, are connected to a tuning membrane, which in turn is connected to sensory neurons that conduct sound waves directly to the brain. Although some people are born without these hairs, a condition that causes deafness, many people also suffer a loss of these hairs from infection, aging, exposure to loud noises and certain medications.

"The loss of hair cells is irreversible, along with the deafness caused by it," said Yehoash Raphael, an associate professor of otolaryngology at the UM Medical School in Ann Arbor .

Although research done during the late 1980s proved gene therapy could be used to grow non-sensory hair cells in the ears of chickens, until now, scientists have been unable to grow auditory hair cells in mammals. This demonstration, Raphael said, brings the possibility of achieving auditory hair cell growth in humans.

Raphael and colleagues used adult guinea pigs to implant a gene called Math 1 surgically into the animals' inner ear fluid. The Math 1 gene is an embryonic gene, which determines the type of a premature cell.

After implantation, auditory hair cells began to grow in previously hairless areas of the guinea pigs' inner ears. The researchers also found evidence that sensory neurons began growing toward the hair cells.

The additional development is critical, Raphael explained, because without connection to the neurons the hair cells are useless. However, he added, the research has yet to demonstrate that the neurons and hair cells have achieved normal connection and function.

More than 30 million Americans suffer from hearing impairment and the new approach could be a major step toward restoring their sense of sound, said Doug Cotanche, associate professor of otology and laryngology at Harvard Medical School in Cambridge , Mass.

"Until now gene therapy has not worked that spectacularly in the ear," he added.

Cotanche said the next step in the research will be growing auditory hair cells at specific locations in the ear to stimulate the sense of sound. Although the UM team grew hair successfully in the inner ear, the auditory hair cells need to grow directly on the inner ear organ called the cochlea. This is the snail-shaped tuning membrane of the ear connected to the sensory neurons.

The fluid surrounding the cochlea stimulates movement of tiny projections of the hair cells. This creates electrical signals that are picked up by auditory nerve fibers and carried to the brain.

A surgical process called cochlear implantation already exists that can safely restore a child's or person's ability to hear. From 70 percent to 80 percent of infants who receive the surgical process and finish proper rehabilitation can attend normal schooling, said Dr. Daniel J. Lee, a pediatric cochlear surgeon at the University of Massachusetts Memorial Medical Center in Boston .

However, "it would be great if you could reverse or prevent hearing loss with gene therapy so they would not need a cochlear implant," Lee said.

Susan Fiorillo, of Worcester , Mass. , has a 12-year-old son who would benefit from the gene therapy treatments for exactly this reason.

Her son has lived with hearing loss since his birth and it has progressively gotten worse with time. At a young age he received the cochlear transplant, but due to surgical complications he lost his hearing completely in one ear.

Another surgical implantation of a new cochlear was done successfully last April on Fiorillo's son's other ear, but nothing could be done for the surgically damaged one.

"I'm not sure yet about the potential complications of gene therapy, but if it is proven to be safe I would much prefer the growth of healthy hair cells," Fiorillo said. "He lost that one ear forever and it would be wonderful if he would have two good ears instead of one."

Cotanche cautioned, however, that clinical use of gene therapy is still 20 years away. The research is its preliminary stages and before the treatment could go into clinical use it would need testing on humans and approval by the Food and Drug Administration, he said.

In addition, the danger of side effects remains. The gene therapy performed on the guinea pigs resulted in damage to the animals' cochlear organ.

The UM team's research is published in the June 1 issue of the Journal of Neuroscience.

(Reported by Michael Hoffman, UPI Science News, in Washington )

Copyright © 2001-2004 United Press International

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DEAF JOKES

 

DEAF MAFIA

A Mafia gang takes on a deaf man to run their deliveries, feeling it would be safer having someone unable to overhear conversations.  However, one day when he is to deliver a large sum of money, he never shows up with it.  The mobsters track him down, but don't find the money on him.  As none of them are able to use sign language, they bring in an interpreter.

Mobster: "Where'd you hide the money?" (Interpreter signs the question.)

The bag man signs his reply.  The interpreter says, "He says he had to ditch it in the river because the cops were onto him."

Mobster:  "I'm not fooling around!  You better tell me where that money is!"  (Interpreter again signs.)

The bag man signs his reply, and the interpreter relays, "He swears he is telling the truth.  He had to get rid of it."

The mobster pulls out a revolver and points it between the deaf man's eyes.  "Tell me where that money is, or I'll kill you right now!" (Interpreter signs his statement.)

The bag man, sweating profusely, signs, "It's inside a shoebox under a loose floorboard in my bedroom closet."

The interpreter says, "He says he doesn't know where it is and he doesn't think you have the guts to pull the trigger."

 

LIPREADING :

Researchers tell us that only about 25 percent of what is said can be understood by lipreading.

For example:

Suppose a woman says:


"This place is a mess! C'mon,
You and I need to clean this place up,
Your stuff is lying all over on the floor
and you'll have no clothes to wear tomorrow
unless we do the laundry right now!"

 

Her lipreading husband will get :


blah, blah, blah, blah, C'MON
YOU AND I  blah, blah, blah, blah,
blah, blah, blah, blah, ON THE FLOOR
blah, blah, NO CLOTHES blah, blah,  
blah, blah, blah, blah, RIGHT NOW!

 

HOT MAMMA :

A 92 year-old man went to the Doctor to get a physical.
A few days later the Dr. saw the man walking down the street
with a gorgeous young lady on his arm.

A couple of days later the Dr. talked to the man and said, "You're
really doing great, aren't you?"

The man replied, "Just doing what you said Doctor, 'Get a hot mamma and be cheerful."

The Doctor said, "I didn't say that. I said you got a heart
murmur. Be careful."

 

NEW HEARING AID :

An elderly gentleman had serious hearing problems for a number of years. He went to the doctor and the doctor was able to have him fitted for a set of hearing aids that allowed the gentleman to hear 100%.

The elderly gentleman went back in a month to the doctor and the doctor said, "Your hearing is perfect. Your family must be really pleased that you can hear again."

The gentleman replied, "Oh, I haven't told my family yet. I just sit around and listen to the conversations. I've changed my will three times!"

 

HARD OF HEARING WIFE?

An old man was wondering if his wife had a hearing problem. So one night, he stood behind her while she was sitting in her lounge chair. He spoke softly to her, "Honey, can you hear me?" There was no response. He moved a little closer and said again, "Honey, can you hear me?" Still, there was no response. Finally he moved right behind her and said, "Honey, can you hear me?" She replied, "For the third time, Yes!"

 

SILENT AND ODORLESS :

A guy walks into the doctor's office and says, "Doctor, you've got to help me. I pass gas HUNDREDS of times a day."

He tells the doctor that it's silent and odorless. Then he says, "Doctor, you won't believe this but I've passed gas ten times while we've been talking."

So the doctor gives him some pills, "Here, take two of these every day and come see me in two weeks."

The guy comes back in one week complaining, Doctor, what's in these pills? I still have the gas, it's still silent, but now it smells absolutely TERRIBLE!"

The doctor says, "Well that takes care of your sinus problem, now let's work on your hearing."

 

PIGS :

What language do pigs speak?

Swine language.

 

PORCUPINES :

What language do porcupines speak?

Spine language.

 

FROGS :

There once was this mad scientist. One day, being curious of the nature of frogs, he propped a frog up on his desk, opened his log book and carefully observed the animal. After staring at it for a considerable amount of time, the scientist finally said: "JUMP!"

And the frog jumped.

The scientist then quickly jotted down in his log book: "Frogs can jump." The following day, the mad scientist entered his lab, checked his log book, put the frog up on the table and, again, stared at it. Finally, he took out a scalpel, removed one of the frog legs and said: "JUMP!"

And the frog jumped.

The scientist quickly added to his log book: "Frogs can jump with three legs."

The next day, the scientist, upon entering his lab, went through the same routine, cutting off another of the frog legs. As he was staring at the wretched animal who now was missing two legs, he said: "JUMP!"

And the frog jumped.

The scientist then added to his previous observations: "Frogs can jump with two legs."

On the fourth day, the scientist behaved according to his habits and removed a third leg from the frog. He then expectantly said: "JUMP!"

And the frog jumped.

Well, by now, the scientist was quite excited about all this. He wrote down in his log book: "Frogs can jump with only one leg!"

Finally, on the fifth day, the scientist entered his lab, already thrilled by what new discoveries he might make. As usual, he checked his log book, placed the frog on the table, stared at what was left of the animal, reached for his scalpel and removed the last of the frog legs. He then said: "JUMP!"

But alas the frog did not leap.

"JUMP! JUMP!" exclaimed the scientist.

Still, the frog did not leap.

"JUMP!" yelled the scientist.

The frog did not leap.

The scientist, then wrote down in his log book: "Frogs when deprived of all legs become deaf."

 

WIFE FELL OUT :

A fellow who had a little too much to drink is driving home from the city one night, and of course, his car is weaving all over the road. A cop pulls him over. "So," says the cop to the driver, where have ya been?" "Why, I've been to the pub of course," slurs the drunk "Well," says the cop, "it looks like you've had quite a few to drink this evening." "I did all right," the drunk says with a smile. "Did you know," says the cop, standing straight and folding his arms across his chest, "that a few intersections back, your wife fell out of your car?" "Oh, thank heavens," sighs the drunk. "For a minute there, I thought I'd gone deaf."

 

LOVED WORKING :

A female missionary who worked with Deaf returned home.  She gave her "missionary report" to the congregation.  In the audience were some of the male missionaries she knew from her mission.  The male missionaries were called Elders.  These Elders were deaf.

Because she worked somewhat with the deaf elders and learned some sign language on her mission she decided to sign part of her talk. She thought she had signed "I really loved 'working' with the Deaf Elders."

The former Elders in the audience burst out laughing
She was embarrassed a bit but finished her talk--then went down to the elders to confront them as to why they laughed.

They explained the sign she used was similar to work but actually meant "make out" (as in necking).

 

FOUR MEN ON A TRAIN :

Four men (a Russian, a Cuban, and a Deaf American, and   an interpreter) are on a train.  The Russian throws a half empty bottle of vodka out the window. When the Deaf American and the Cuban react with surprise, he explains that "That vodka tasted bitter.  Back home in Russia , we have much better vodka!"  So then the Cuban throws a half smoked cigar out the window saying, "That cigar tasted awful.  Not like the ones we have in Cuba ."

Then the Deaf American stands up, grabs the interpreter, and throws him out the window, signing "He used signed English."

 

MORE "LOVIN "

A husband and wife went to the doctor.  [The husband is hard of hearing]

The doctor says to the wife, "You've got to do 3 things to keep your husband well."

"1st you got to keep everything real clean and smooth.   You got to iron everything."

"2nd you got to fix him fresh meals every day from scratch.  No left overs, no fast or frozen foods."

"3rd you got to give him more lovin."

They get home and the husband asks, "Well what did the doctor say?"

The wife looks at him and responds, "You're going to die."

 

FARTS :

Question:  Why did God make farts smell?
Answer:  So Deaf people could enjoy them too.

 

SUPPOSITORY :

An older gentleman had lost his hearing aid and wanted to get a new one. Before getting the new hearing aid, he wanted his ear cleaned out, so he went to his doctor.

As the doctor was cleaning his ears, he noticed a foreign object lodged in the man's ear canal. With a pair a tweezers, the doctor removed the object. Upon closer examination, he discovered that it
was a suppository. The doctor told the older gentleman that he had a suppository stuck in his ear.

At this, the man exclaimed, "Now I know where I put my hearing aid!"  

 

DEAF COUPLE AT HOTEL:

A deaf couple checks into a hotel. They retire early. In the middle of the night, the wife wakes her husband complaining of a headache and asks him to go to the car and get some aspirin from the glove compartment. Groggy with sleep, he struggles to get up, puts on his robe, and goes out of the room to his car. He finds the aspirin, and with the bottle in hand he turns toward the motel. But he cannot remember which room is his. After thinking a moment, he returns to the car, places his hand on the horn, holds it down, and waits. Very quickly the hotel rooms light up, all but one. It's his wife's room, of course. He locks up his car and heads toward the room without a light.

 

DON'T HAVE TO YELL :

I noticed a deaf couple in the library talking to each other, evidently in a heated argument. The wife was getting more upset, using large signs, her husband could see that she was upset. Finally, he took both her hands in his, and signed, "Honey, you don't have to yell, I am not blind!"

 

HAIR CUT :

One day a blind man goes to a barber for a haircut. 

After the cut he asks the barber about his bill. "I am sorry, I cannot accept money from you I am doing community service for handicapped this week." The blind man is pleased and leaves the shop. 


The next morning when the barber goes to open his shop, there is a thank you card and a dozen roses waiting at his door. 

Later a man in wheelchair comes in for a haircut and he also goes to pay the barber, and the barber replies: "I am sorry I cannot accept money from you. I am doing community service for handicapped this week." The wheelchair man is happy and leaves the shop. 

The next morning the barber goes to open his shop, there is a thank you card and a box of dozen muffins waiting at his door. 

A deaf man comes for a hair cut and when he asks the barber what he owes, the barber wrote on paper: "I am sorry I cannot accept money from you. I am doing community service for handicapped this week. The deaf man is very happy and leaves. 


The next morning when the barber goes to open his shop, there are a dozen deaf people waiting at his door.

 

MILK:

Make the sign for "milk. "Continue making the "milk" sign—but move it in front of your eyes. 
Can you guess what "sign" that is?...
......It's "pasteurized milk" (past-your-eyes)

 

AIDS

One day at the end of a church meeting, the person conducting asked, "Is there was anything more that needs to be brought up before we end the meeting?"
One of the oldest members slowly raised his hand. "Yes. I guess I should tell you that I'm going to have to resign my position." Most of the members around the table looked surprised at the gentleman. He continued, "I went to the doctor the other day. I now have AIDS." Astonishment filled the room. As they starred at him in amazement, he went on. "It's true. I now have an aid in my left ear and another in my right ear!"

(Kerry Rasmussen from Ogden Utah swears this is a true story.)

 

DEAF GERMANS:

A young deaf American was taking a vacation overseas. He got a Eurail pass and toured Holland , France , Belgium , and a bunch of other places before ending up in Germany . At his first village, he went into a pub and there, off in the corner, were three older German gentlemen who were signing. They appeared to be deaf. The young man watched and figured he could understand the signs enough to carry on a conversation.

He got a beer and asked if they would allow him to join them, and they did. They chatted about this and that, and soon conversation gave way to how each of them became deaf. The first older German said, "Well, I was a soldier in WWII, and my platoon was hit by a big American mortar, and it exploded near my head, and I lost all my hearing." The American boy was kind of saddened by this. The second German went on:" I was in a UBoat and my job was to listen for enemy ships. An American destroyer dropped a depth bomb on my ship, and it went off very close to it, and I lost my hearing as a result." Oh no, thinks the young American. How awful. The third German held forth: "I was in a plane, and we were struck by a bomb, and it went off right next to me, and it blew out my ears, and that is how I lost my hearing."


Well, that was just awful, the young American thinks. My country is indirectly responsible for these poor chaps going deaf. He was sad about this until they asked him how he became deaf. Smiling, he signed, "Well, before I was born, my mom got German measles." 

 

BIG BREATHS :

At the beginning of my shift I placed a stethoscope on an elderly and slightly deaf female patient's anterior chest wall. "Big breaths," I instructed. Yes, they used to be," remorsefully replied the patient.
--Dr. Richard Byrnes, Seattle , WA

 

SPEEDING TICKET:

A hearing man is hitchhiking late at night on an isolated highway. His car had broken down and he was hoping for a ride to the nearest town or telephone. After a few hours of walking and thumbing for a ride, a car finally pulls over and lets him in.

Upon entering the car the hitchhiker realizes the driver is deaf. This doesn't bother the man and the two gesture back and forth with one another. After a few minutes the driver decides to fully depress the gas pedal and speed. Because the car is a convertible, the hearing man loses his hat and both passengers' hair is blowing wildly in the breeze. The gauges on the dashboard are steadily rising and the hearing man is actually a bit frightened.

Suddenly, as if from nowhere, red and blue lights can be seen in the rear view mirrors and the car is pulled over. As they pull over, the deaf man puts one finger over his lip and looks at the hearing man, “Shhhh.” The police officer comes to the driver side of the car and asks for the driver's license, the deaf man gestures to the police officer that he can't hear or understand him. The hearing man follows suit. The police officer nods his head, looks around, then over enunciates the words, “S L O W D O W N !” The deaf man nods his head innocently in agreement.

As they're driving, the deaf man becomes tired and pats his hand over his mouth as he yawns and stretches his arms. He makes eye contact with the hearing man and gestures for them to switch places. The hearing man agrees and is soon driving the car down the isolated highway. After a few minutes, the deaf man is fast asleep in the passenger's seat and the hearing man is feeling adventurous. Assuming that the chances of them getting pulled over again are pretty slim, he presses the pedal to the metal and is zooming quickly toward the horizon.
As luck would have it though, he too is soon pulled over and a police officer steps up around the side of the convertible. The officer says, “I need your license and registration please…” The hearing man has a quick brainstorm and begins feigning deaf. He gestures to his ears then motions that he doesn't understand. The police officer smiles and signs, “OH YOU'RE DEAF? MY PARENTS ARE DEAF, WHERE DID YOU GO TO SCHOOL?” Gulp!

 

The 3 Hunters

Three hunters, Clint Eastwood, John Wayne, and a Deaf Cowboy, are gathered around a campfire. The 3 have been drinking and bragging about the virtues of their home states.

Suddenly, Clint Eastwood says, "Watch this." He opens a bottle of tequila, takes a swig, tosses it in the air, pulls out a pearl-handled revolver and shoots the bottle cleanly in two.

"It's a shame to waste that good liquor," John Wayne says.

"It's OK," Clint replies, "Where I come from, we've got plenty of that"


Not to be outdone, John Wayne pulls out a bottle of Jack Daniel's. He pulls off the cork, takes a drink, throws the bottle in the air, whips out an assault rifle and blasts the bottle, sending shards of glass everywhere.


"Shame to waste good whiskey," Clint says.

"It's OK," John says, "We've got plenty in my state."

At this point, the Deaf cowboy stands up. He pulls out a bottle of Henry's, twists off the cap and guzzels the entire beer. He throws the bottle high in the air, pulls out a shotgun, empties both barrels into John Wayne and neatly catches the bottle.

Clint stands in SHOCK. The Deaf cowboy calmly puts the shotgun down.


Clint stands in SHOCK. The Deaf cowboy calmly puts the shotgun down. "It's OK," he signed "We've got plenty of them in my state, besides this bottle is worth a NIC."

 

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Empty Ears, Helping Hands

Why walking the talk is a matter of lifting the fingers in the face of silence. Carine Era Asutilla reports.

How do you proclaim the Christian tenets to the hearing-impaired?

“It is by walking the signs,” explains Clark Duterte Pelaez Jr., an ex-seminarian who proves he can still go the extra mile in faith by devoting himself to volunteer works. Now having his hands full as a Sign Language Interpreter on top of teaching Values Education, he is the Program Manager of Gualandi Volunteer Service Program.

It occurred to him that coming to terms and reaching out to deaf-mutes would be something worth his while, touched as he was when he saw the Philippine National Anthem performed in sign language.

“From that day on, I started going to the Gualandi Mission for the Deaf,” he recalls. “I'd bring a pen and paper, and I write down words and let my deaf friends read it… I take notes and for a short span of time until I was able to learn sign language, and started volunteering for the deaf.”

Every Sunday, he would visit the Gualandi Mission for the Deaf where he deems it inspiring to participate in their activities and to be always available for whatever task at hand.

Saying it's his way to serve the Lord, he explains: “I gain no popularity or anything with what I do, I believe it's a call to share a love-life relationship to the deaf, empowering them and educating them.” Yes, he would visit schools for the deaf and render services for free.

“It is good seeing them appreciate what you do. I've been doing this for six years already. This little work I do, I know, can realize their big dreams,” he affirms.

Gualandi Mission for the Deaf was founded in Italy way back in 1872 by Venerable Joseph Gualandi. It is a religious congregation of Priests, Sisters, Brothers, Deaf Sisters, and Deaf Brothers. The Mission first landed in the Philippines in Cebu and Manila in 1988. The congregation's members calling themselves Gualandians, they have been steadfast in their mission is to empower the deaf in the society and in the Church.

Gualandi Social Center for Deaf was then established to meet the socio-economic, educational, and psycho-spiritual needs of the deaf. Part of the center is the Gualandi Volunteer Service Program, aiming to train and form volunteers to boost human resources to serve the deaf community.

GVSP has been in Cebu for a year already. Clark and other nine volunteers come together to serve around 700 hearing-impaired individuals who visit the center every now and then. They represent the deaf in Cebu Council for the Welfare of Disabled People or CCWPD, in partnership with Cebu Association of the Deaf. Together, they discuss programs or projects in service to the deaf community.

GVSP also volunteers for the first High School for the Deaf in partnership with Pink Center . Gualandi volunteers would come to court to interpret cases of abused hearing-impaired persons.

Just recently, they have given services to media, in TV Patrol Central Visayas. “If you're deaf, what you see on TV, you don't understand… the deaf appreciates having an inset on news program like TV Patrol Central Visayas, because they want to be aware of what's happening.” Clark said.

It started February this year that TV Patrol Central Visayas has allotted 10% inset on screen for interpreters to construe the sign language the news stories for the benefit of the hearing-impaired.

“My office was flooded with people having hearing disabilities when they saw me in TV Patrol.” Clark tells. “They appreciated it a lot.”

GVSP is encouraging people to join and volunteer for the Deaf. “Volunteering is a rewarding act.” Clark says. “It's serving God, and his people.” His message, hands down, is loud and clear.

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Signing 'increases deafness rates' Deafness adds twist to TV film

 

Sign language may be behind rising rates of inherited deafness, according to researchers.

The proportion of people who are born with profound hearing loss has doubled over the past 200 years.

Researchers at Virginia Commonwealth University in the United States have traced the increase back to the introduction of sign language in the early 1800s.

They say the introduction of sign language allowed people who are deaf to communicate with each other more easily.

They say it also led to many more people with hearing loss marrying.

The researchers believe the decision of so many people with inherited hearing loss to marry has been behind the increase in deafness rates.

Gene mutations

More than 100 genes are involved in hearing loss. As a result, most people who are deaf have children with normal hearing because they pass on different genes.

However, a mutation in one gene, the connexin gene, is responsible for 50% of inherited deafness.

If both parents have this mutation, they will pass it on to their children, who will usually be born deaf.

The researchers used computer modelling to show what effect intermarriage between people with inherited deafness has over many generations.

They found that intermarriage between people who are deaf can lead to a significant increase in the number of people with inherited hearing loss.

This is largely because they have children with the condition who themselves go on to marry other people with this type of genetic deafness.

"In the United States , at least 85% of individuals with profound deafness marry another deaf person," said Professor Walter Nance, who led the study.

"In the case of marriages among couples who both have the same form of recessive deafness, all their children will be deaf and capable themselves of also passing on the altered gene to their offspring.

"In addition, as many as 3.5% of the hearing population in the United States may carry single mutations involving the connexin 26 complex, making this one of the most commonly recognized single gene defects."

Professor Nance said areas in the United States with a history of schools that teach through sign language have increased rates of genetic deafness.

"In regions where national or state-wide schools for the deaf have been established and marriages among students have occurred, we've seen an amplification of the commonest form of recessive deafness in the overall population."

Professor Nance believes the findings may explain how speech evolved in humans.

"When you think about how the onset of selective marriages among deaf populations led to an increase in specific mutations for deafness, you easily can see how these same forces might have contributed to the spread of genes for speech among Homo sapiens 160,000 years ago," he said.

"If you were one of the first primates with an ability to communicate by speaking, wouldn't you want to select a partner who could whisper sweet nothings in your ear?"

Brian Lamb, director of communications at the RNID, said: "This research provides an interesting insight into why a specific genetic form of deafness has become more common.

"It is not surprising that people with a shared culture of deafness marry. And if both people have the same specific genetic cause of deafness, this will be passed down the generations.

"RNID supports the rights of deaf people to marry one another. As well as looking at the genetic causes of deafness it is also important for society to develop ways to improve communication for deaf people so that they live active and fulfilled lives integrated in society."

The findings will be published in the American Journal of Human Genetics in June.

 

Deafness adds twist to TV film

By Geoff Adams-Spink
Age & disability correspondent, BBC News website

 

A new drama - directed by award-winning director Edmund Coulthard - featuring a deaf character in the lead role is about to be shown on BBC Two.

Soundproof stars Joseph Mawle as Dean and Susan Lynch as Penny.

It is a fast-moving, urban thriller in which Mawle's character is the prime suspect in a murder case involving his flatmate.

Lynch plays Penny - a British Sign Language (BSL) interpreter - brought in by the police to question Dean who soon emerges as the prime suspect.

But the pair develop a close bond - based around their shared language - which leads Penny to abandon the neutral position of interpreter.

Both actors had to learn BSL in a matter of weeks before the shoot, but Mawle drew on his own experience of deafness to play the part.

Big changes

"I lost my hearing when I was 16 because of a virus," he told the BBC News website.

At the same time, Mawle's parents split up and he moved into a caravan by himself.

"A lot of changes were going on - 16 isn't the best time to have big changes happening. I think the hearing loss was partly psychological and partly physical.

"He partially recovered his hearing after two years but continues to wear hearing aids.

Mawle says that learning BSL for the part was "extraordinary".

"It's such a rich language and there's no way in five weeks that I could cram it all in," he said.

Sometimes he watched his instructor, Jean, for 12 hours at a time to get the sign language right for a single scene.

His character, Dean, is a foreigner in a world pitched against BSL users.

Some of the scenes are shot with a muffled soundtrack in order to give the viewer a taste of life from his perspective.

"Obviously he has a lot of barriers and he's a fighter," said Mawle.

"This is something he is constantly trying to repress in order to give himself a fresh start."

Hard cramming

Although not fluent, Mawle says that he has learnt enough BSL to be able to hold a basic conversation.

"I know a lot of BSL users and I have a lot of deaf friends now because of the research I did for the film."

Playing opposite him is Susan Lynch who is cast in the role of a hearing BSL interpreter, Penny.

She describes the learning process as "hard" - she had to cram it into three weeks and says she couldn't have done it without her teacher, John Wilson.

"He was really tough on me which helped a lot," she said.

"In order to communicate with John I had to use BSL constantly, because he's deaf."

She says that using BSL on screen involved a good deal of physical and facial expression.

"Sign doesn't make sense if you just do it with your hands - people need to understand what you're saying with your face as well."

Soundproof is the latest in a series of BBC Two dramas featuring lead characters with disabilities.

The award-winning Flesh and Blood starred Christopher Eccleston as a man who discovered that his birth parents both had learning disabilities.

And last year, Mat Fraser and Lisa Hammond took the lead roles in Every Time You Look at Me - the story of a disabled man trying to come to terms with his identity.

Soundproof is on BBC Two on 12 July at 2100 BST. It will also be transmitted in Sign Zone on 18 July from 0125 B

 

Top

In this Section:
1. Gene discovery changes clinical practice for care of deaf patient   
2. Gene therapy could treat deafness
3. Deaf Jokes
4. Empty Ears, Helping Hands
5. Signing 'increases deafness rates'
6. Deafness adds twist to TV film

 

 

Registry of Interpreters for Deaf Empowerment (RIDE)

Ministry with the Deaf

•  IMMACULATE CONCEPTION PARISH

Concepcion , Marikina City

Services provided by RIDE

  • Mass in Sign Language every Sunday at 5:00 PM – 6:00 PM Ash Wednesday (Signed Mass)
  • Religious education for children and adults
  • Help to teachers with deaf students in parish programs.
  • Pre-marriage and marriage counseling.
  • Pastoral counseling and spiritual direction.
  • Interpreting for deaf parents of hearing children.
  • Celebrating and/or interpreting the Sacraments
  • Teaching Religious interpreting
  • Days of Recollection

Social Activities

  • Social Interaction after Sunday Mass
  • Annual Picnic
  • Youth and Adult Activities
  • Christmas Party

Officiating Priests : Fr. Raymond Decipeda, MMHC

Fr. Augustine Aldana, MMHC

Fr. Edmond Galicia , MMHC

Moderator: Roberick S. Quing

Sign Language Interpreters: Jun Celada (1 st Sunday)

Rick Quing (2 nd Sunday)

Mike Potian (3 rd Sunday)

Cris Sabayan (4 th Sunday)

 

•  IMMACULATE HEART OF MARY PARISH

 

Diocese of Antipolo, Antipolo City

 

Services provided by RIDE

  • Mass in Sign Language every Sunday at 10:00 AM – 11:00 AM at St. John Mary Vianney Parish
  • Ash Wednesday (Signed Mass)
  • Religious education for children and adults
  • Help to teachers with deaf students in parish programs.
  • Pre-marriage and marriage counseling.
  • Pastoral counseling and spiritual direction.
  • Interpreting for deaf parents of hearing children.
  • Celebrating and/or interpreting the Sacraments
  • Teaching Religious interpreting
  • Days of Recollection

Social Activities

  • Social Interaction after Sunday Mass
  • Annual Picnic
  • Youth and Adult Activities
  • Christmas Party

 

Officiating Priests:

 

Moderator:  Sister Angelina Enriquez

Sign Language Interpreters:

Emelie Gentalian & Angie Enriquez (1 st Sunday)

Emelie Gentalian & Angie Enriquez (2 nd Sunday)

Mike Potian (3 rd Sunday)

Emelie Gentalian & Angie Enriquez (4 th Sunday)