Saoirse (5) flies to US for chance to be saved from Batten disease
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Donate to Batten Disease and help fund the necessary research developments to find solutions to Batten Disease.Dog Gene Offers Clues to Rare Human Brain Disease
MONDAY, Aug. 30 (HealthDay News) -- Scientists who discovered a gene mutation that causes a fatal neurodegenerative disease in American Staffordshire (Pit Bull) terriers say the same gene may also be linked to a similar, rare fatal brain disease in humans.
The discovery of the gene associated with a variant of neuronal ceroid lipofuscinoses (NCLs) -- a family of diseases that lead to mental and motor deterioration and death -- may lead to improved screening and diagnosis of the disease in dogs. It may also be an early first step in developing a cure for NCLs in both dogs and humans, according to the multinational team of researchers.
In American Staffordshire terriers, also known as American Pit Bull Terriers, the disease causes mental and motor deterioration leading to death. Adult-onset NCL affects one of every 400 registered American Staffordshire terriers, according to research team member Dr. Natasha Olby, an associate professor of neurology at North Carolina State University.
Read more online (off-site link) Is it time we paid more attention to rare disease?
When Hannah Ostrea was five months old, she was diagnosed with Gaucher's disease, a genetic condition in which the body lacks the enzyme needed to break down a fatty waste product called glucocerebroside, leaving it to accumulate in the body's organs. The disease is painful, with the excess glucocerebroside impairing mobility and delaying growth. Hannah's form of the disease, Neuronopathic Gaucher's disease, also causes brain damage and eye movement disorders and makes swallowing difficult. Neuronopathic Gaucher's affects less than 1 in 100,000 live births and the life expectancy of a sufferer is between two and 20 years — Hannah is now two. But because the medical community won't dedicate time or money to an illness that affects so few, there is no cure on the horizon. "Unless you have a celebrity who has a personal interest in your disease or you have a 'popular' rare disease ... there are no big foundations, large fundraisers, or even any interest in assistance," says Hannah's mother Carrie. "It's so hard knowing that there is so little research out there for my daughter, and that because of this, we will likely lose her sooner rather than later."
Meet Dr. David Pearce
A quick clip of Dr. David Pearce, from the 2010 BDSRA Annual Conference [rough edit].
Meet Joshua Smerdel
As part of an upcoming awareness campaign, BDSRA has begun filming a series of short documentary pieces, in which we'll spotlight the community affected by Batten disease.
This is a quick clip that will be a part of the content series.
Couple lose their three children to rare illness
Michael Pinder loved his movies.
Even when he had lost his sight and was very ill, he would still laugh at the same parts of his favorite videos.
In the days before Michael's death on April 28, his parents, Mike and Vicki Pinder of Spring Township, sat with him as his movies played.
There is probably no more devastating disease than one that strikes a seemingly normal, healthy child.
Just as children are developing personality and beginning to experience the world around them, Batten disease can rob its victims of their eyesight, motor skills and eventually even their ability to communicate.
All three of Mike and Vicki's children died before age 22. Mindy was 21½ when she died in September 2000. Marcy was 20 and died in April 2003. Michael also was 20.
Disney Guests with a Disability
Disney Unveils First-of-its-Kind Outdoor Audio Description Technology for Guests with Disabilities
National Association of Professional Engineers Names Handheld Assistive Technology Device "New Product of the Year"LAKE BUENA VISTA, Fla., June 22, 2010 – Beginning June 27, guests with visual disabilities will be able to explore Walt Disney World theme parks in a whole new way through an enhanced Disney-designed device that provides detailed audio description of outdoor areas and fits in the palm of a guest's hand.
"Disney Parks have long been at the forefront of providing accessibility for guests with disabilities," said Greg Hale, chief safety officer and vice president of Worldwide Safety and Accessibility for Walt Disney Parks & Resorts. "We are pleased to build on this legacy with new technology that enables us to do something that has never been done before – provide rich audio description in moving rides and outdoor environments."
Link to a demo of the outdoor environment audio description:
http://ncamftp.wgbh.org/disneyareadx/MK_AreaDX_Demo_Short.htmlVia an interactive audio menu, the newly enhanced Assistive Technology Device lets guests choose the type of information they would like to receive about outdoor areas, from architectural elements to the location of the nearest restroom. The 7.2-ounce device, which utilizes wireless technology to pinpoint its location and take pre-programmed actions also offers guests at Walt Disney World Resort and Disneyland Resort:
- * Detailed audio description of key visual elements, including action and scenery, for more than 50 attractions;
- * Amplified audio for most theater-type attractions for guests with mild to moderate hearing loss;
- * Handheld captioning that enables guests to read captions while enjoying specific rides; and
- * Activation of closed captioning in pre-show areas where television displays narrate the upcoming experience.
"I know of no other public space in this country – or anywhere else for that matter – that is as welcoming and accessible to people with disabilities as Disney’s theme parks," said Larry Goldberg, director of media access at WGBH Boston, which is considered a pioneer in developing multimedia and new technologies that make media accessible for the disabled. "With their captioning systems for guests who are deaf or hard-of-hearing and now outdoor environmental description for guests who are blind or visually impaired, Walt Disney World is now more inclusive than ever. WGBH is proud of our role in helping make this happen."
WGBH teamed up with Disney to deliver outdoor audio description, marking the latest collaboration between the two organizations, which began with the installation of WGBH's Rear Window® Captioning system in Disney's theater-based attractions in1996.
Disney has patented and licensed the assistive technology, which could serve a wide variety of retail, commercial and industrial applications. The technology is already being used at the World of Coca Cola Museum, The Hall at Patriot Place and the Dallas Cowboys Stadium and will receive the National Society of Professional Engineers 2010 "New Product Award" next month.
"We are particularly excited to make this technology available beyond Disney Parks and extend accessibility where it was previously impractical," added Hale. Softeq Development Corporation is licensed to make the technology available beyond Disney Parks.
Other examples of Disney Parks' services for guests with disabilities include:
- * Accessible Experiences – From vehicles at Toy Story Midway Mania! that enable guests to remain in their wheelchair during the ride to American Sign Language interpretation at live shows, the focus is on providing accessible experiences.
- * Recreation Devices – Specially designed vehicles, such as an adaptive golf cart and sand and aquatic wheelchairs, enable guests to experience leisure activities throughout the resort.
- * Guide maps for Guests with Disabilities – Theme park-specific maps provide an overview of services and facilities available for guests with disabilities. Braille guidebooks are also available to assist guests during their visit.
- * Resort Access – Resort hotels at Walt Disney World Resort offer special equipment and facilities for guests with disabilities such as phone text, visual indicator door knocks and sloped-entry pools.
The Handheld Assistive Device is offered at no cost with a refundable deposit at Walt Disney World Resort and Disneyland Resort theme parks. Audio description of outdoor areas will be available at Disneyland Resort next year. For further information about services for guests with disabilities, guests should visit the Walt Disney World Web site at http://www.disneyworld.com/ or contact Walt Disney World Information at 407-824-4321 (voice) or 407-827-5141 (TTY).
Nationwide Children's Hospital Chosen As Center Of Excellence
COLUMBUS, Ohio – Nationwide Children’s Hospital has been selected as a Center of Excellence for Batten Disease by the Batten Disease Support and Research Association (BDSRA).
BDSRA currently has designated three Batten Disease Centers of Excellence in the U.S. and is working to select others. Families who attend a BDSRA Center of Excellence will receive care from the lead pediatric neurologist as well as other healthcare professionals including nurses, social workers and genetic counselors. Patients will also be able to receive consultations from other medical specialists such as cardiologists, pulmonologists and gastroenterologists. The goal of a Center of Excellence is to assure that patients and their families receive comprehensive quality care to meet all of their needs.
Read more in Adobe Acrobat(.pdf)Battling Batten Disease
Edie Dockter's story: My husband, Gene, and I are the parents of three children with Batten disease. Our children were born in 1963, 1965 and 1969. Our oldest child, Laurie, showed symptoms for Batten disease in 1969, when she was 6 years old. She started having problems with coordination, speech, and cognitive skills. After seeing many doctors and undergoing numerous medical tests, she was finally diagnosed at age 10. At that time, we were told our daughter was one of the few children with a diagnosis of neuronal ceroid lipofuscinoses (NCL).
Read Full Story at link below
Batting Away Batten Disease will benefit Amosah family
The inaugural “Batting Away Batten Disease” slow pitch tournament will take place in Oxbow on Saturday, June 19.
The event is being organized by the family and friends of Terell and Deon Amosah – brothers who have been diagnosed with Batten Disease. Terell passed away on June 13, 2009, one month short of his eighth birthday. Deon is still fighting the disease, which has no cure.
We need your help | Jacob's Prayer
This weekend, June 4-6 is Batten Disease awareness. We all know the definition of awareness but most don’t know what Batten Disease is. We didn’t know until 2 years ago when our son, Jacob, was diagnosed. Since then, we have dedicated ourselves to making others aware so we can find a cure. We have talked to and met so many families that have had a child/children earn their wings from this disease and others who still have their child/children fighting the battle. Losing a child is never easy no matter how it happens. For these families, it's watching their child die a little more each day....
Saoirse (5) flies to US for chance to be saved from Batten disease
A five-year-old girl who suffers from Batten disease has departed Ireland for a New York hospital which will give her a chance to receive life-saving treatment.
Saoirse Heffernan and her parents Tony and Mary flew from Dublin Airport yesterday following a call by doctors in New York's Cornell hospital to undergo a preliminary assessment for medical trials.
Jacob Geer battling Batten Disease
Six-year-old Jacob Geer takes 12 pills every day to control his seizures, is fed by a tube and regularly visits a variety of doctors. He will be lucky to celebrate his 12th birthday.
Brothers' illness, parents wish inspires a "Garden of Hope"
Brothers Brandon and Jeremy Hawkins of Concord have become regulars at Camp New Hope over the past three years, and it has become a place where the family can find comfort and reprieve in these trying times.
The camp, located just south of West Jefferson off of Boggs Road is a camp for children with life threatening illnesses. It has become almost a second home for the brothers and their family.
Most boys on the threshold of adolescence do not have the burden of sickness weighing on their shoulders, but for these brothers, living by the old adage of living each day to the fullest, takes an entirely new meaning....
Batten Sibs and Friends Raise Money for BDSRA
The children's letters are in the PDF file below.
Amy Lombardi, Coordinator of Family Services, Resigns from BDSRA
Serbian News Story
Doing good while grappling with illness
Story by Meghan Cooke
Jeremy Hawkins celebrated his 9th birthday last week with presents, cake and ice cream as his parents snapped hundreds of pictures of him and his 12-year-old brother, Brandon.
In many ways, it was a typical birthday. But then again, it wasn't. The boys' parents, Chris and Wendy Hawkins, know the timeline they're working with. They don't have many years left.
Brandon and Jeremy have Batten Disease, a disease that causes mental impairment, seizures, progressive loss of sight and motor skills and eventually death.
Mother on shaky ground, but with extended family
Story by Aaron Krause
The Earth was still Saturday outside North American Martial Arts Institute in Norwalk. Inside was another story.
North American Martial Arts Institute instructor Denise Stine is shown during the Action For Asher benefit event Saturday in Norwalk.
The place pulsated with loud music featuring a steady, rhythmic beat. Sweaty people wearing boxing gloves punched and kicked bags in tandem.
The floor vibrated, serving as an apt symbol of the unsteady life of parents with a dying child.
Berlin Heights residents Leisa and Vic Nikolajevs have such a child, 13-year-old Asher.
Daniel Kerner Memorial Service
Date: Thursday April 22, 2010
Time: 7:30 p.m.
Congregation B'nai Israel
2111 Bryan Avenue, Tustin, CA 92782
(714)730-9693
In lieu of flowers, please consider making a donation in memory of Daniel to Batten Disease Research and Support Association
BDSRA Board Nominations
We have 5 board positions available for a 3 year commitment to serve the organization beginning at the July conference in Chicago. Board members Jane Emanuel, Wendy Bills and Linda Houghtby are running for re-election this year. If you or someone you know would like to help our organization grow, provide services to families, and coordinate research for a cure, please submit your contact information to the Ad Hoc Nominating committee at chawk328@live.com, marcus.kerner@usdoj.gov. Nominations are due by April 15, 2010. Ballots will be mailed out to all current paid members on May 1st and ballots must be received by 11:59pm on May 15th. If you have not sent in your membership dues you must be paid for 2010 in order to vote. Results of the election will be announced the third week in May.
The Board of Directors would like to thank Fred Weaver and Warren Shuros for their service to the BDSRA. They are not running for re-election this year and we certainly appreciate their years of service. Please thank them the next time you see them!
Second Bayou Bash raises $52,000
The Baytown Sun
Published April 2, 2010
Despite a cold front that made its way through Baytown early March 20, the second annual Emma's Bayou Bash was a huge success, according to organizers.
Emma's Bayou Bash was organized in honor of Kelvin and Christy Dunnam's daughter, Emma, and her battle with Batten Disease.
Batten Disease strips children of their developmental milestones, has no cure and is always fatal.
Unlike the 2009 Bayou Bash, Emma was not present for this year's event. Feb. 1, she lost her battle to Batten Disease, one month before her 4th birthday.
In Emma's honor, her family has established a nonprofit organization called "Emma's Hugs."
"Last year, 80 percent of the proceeds from the fundraiser went to Emma's needs," Kelvin Dunnam said. "This year, all of the proceeds will go towards 'Emma's Hugs' and the Batten Disease Support and Research Association."
The March 20 fundraiser grossed in $60,000 with a net take of $52,000, said Dunnam.
"Although I think the weather was a little bit of a damper, we had a tremendous turnout regardless," he said. "We had 65 bikers come out for the ride and served 1,200 plates of barbecue."
"Emma's Hugs," which was designed by Emma's family, is devoted to support families and caregivers of those in hospital settings so that they can better focus on the recovery of their loved ones. The inspiration for the organization came from one of the family's favorite memories of Emma and her infamous hugs.
Emma's family thought it was important to share random acts of kindness, just as Emma shared her hugs, by doing small gestures such as paying the $75 a week charge for parking, or buying a family's lunch at the hospital cafeteria and anything to make their stay easier.
According to Dunnam, "Emma's Hugs" recently donated $5,000 worth of parking tokens to M.D. Anderson's pediatric bone marrow patients.
"We are able to do things like this because of 'Emma's Hugs,'" he said.
Dunnam said he hopes to continue see the annual fundraiser grow in the years to come.
"With good weather, I think this event has the potential to draw at least 300 bike riders," he said. "My hope is that one day we can raise up to $100,000. That would be really great for Emma."
Production toots horn for ailing youngsters
The Music Man, to be presented Friday through Sunday in the Palace Theatre, marks the 53rd annual production of Pleasure Guild of Nationwide Children's Hospital, an all-volunteer group committed to raising money for the Hospice and Palliative Care program at the hospital.
Such pursuits have helped the family of Jenni Betz, whose daughter, Celia, has received hospice care for about a year.
The girl, who just turned 3, has Batten disease, a degenerative neurological problem with no known cure.
Pavlo Nominated for a Juno Award
We are proud and excited to confirm....
PAVLO, RIK EMMETT and OSCAR LOPEZ 's new CD:
"TRIFECTA"
has been NOMINATED for
"BEST INSTRUMENTAL ALBUM of the YEAR"
by the 2010 JUNO Awards
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On behalf of Pavlo, Rik Emmett and Oscar Lopez:
"It is with humble hearts and great appreciation that we say THANK YOU to all of you in the media and to those of you who: have interviewed us; took an interest in telling our story; have reviewed the album or our live show; OR to you that have shown us ANY small kindness or support by printing a concert date; or a picture; or spinning the album, etc. We realize that without your support, our fans; music lovers and greatest supporters may never have learnt of our endeavours.
THANK YOU!"
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TRIFECTA album - listen here:http://www.pavlorikoscar.com/music.php
Publicity Contact: Sandra Charamba - 416-303-3305 - sandra@pavlo.net
P.R.O. website:www.pavlorikoscar.com
P.R.O. Biography: http://www.pavlorikoscar.com/biography.php
Hi-Res Pics for Download:http://www.pavlorikoscar.com/photos.php
Tour Dates:http://www.pavlorikoscar.com/concerts.php
Video Bio:http://www.pavlorikoscar.com/concerts.php
You Tube: http://www.youtube.com/watch?v=V1GK5sb9los
Buy Album: http://www.pavlo.net/store/product_info.php/cPath/3/products_id/203?osCsid=be2f0da29df3b48eb6c222bef80a92b4
Album Description:
AN AMAZING GUITAR TRIO...
An amazing guitar trio of Mediterranean Magic, Triumphant Fusion & Hot Latin Fire has arrived. P.R.O.s incredible musical chemistry was born out of the joy, respect and friendship found in the making of great music. Three artists from widely different backgrounds have forged an intense cultural melting pot of their unique styles.
5-Year-Old Girl Living With Rare, Fatal Disease
The Global Genes Project
World Rare Disease Day is a time when the community of affected children and families come together to garner support for their efforts.
Please join the Global Genes Project in its support for World Rare Disease Day by wearing jeans. It's that easy!
Imagine lawyers in courtrooms, business executives in boardrooms, state legislators and others from all walks of life wearing jeans the week before or Friday before World Rare Disease Day all to show their support for those affected by rare disease worldwide. www.rarediseaseday.us.
It can happen. And this simple act could help change the lives of children affected by rare diseases. Please also join us on facebook to share your efforts with the rest of the world post photos, share stories and get people excited!
So help today! Wear your jeans!
Family hopes daughter's struggle will give hope to others
That was her spot, Melinda Galen said, referring to her daughter Aleah Allie.
Allie, 12, was diagnosed with juvenile Batten disease a rare neurological disease when she was 6 years old. The disease affects eyesight and gross motor skills at first, eventually resulting in seizures, blindness, psychotic episodes and being bedridden.
Helping Give Hope to Hayden
"We weren't going to sit back and do nothing," Thelen told FOX 11. Two years ago, Thelen's daughter Hayden was diagnosed with Batten's disease. Thelen said her daughter could walk, talk and feed herself. But then, she started to regress.
Mishawaka family making every moment count for son with fatal disease
CBS News Story -- A Quest to Find a Cure
Uncommon illnesses, also known as "orphan diseases", affect millions of Americans, but drug makers are unwilling to develop a treatment. Terrell Brown looks at one family's quest to find a cure.
Jasper Duinstra suffers from Late Infantile NCL. This is the Duinstra's story and their fight to find a cure for their son and all children with LINCL.
Michiana boy battles rare disease
Disorder, funding to fight it both rare
Celia Betz, 2 1/2 , has the infantile form of Batten disease, a rare neurological disorder that can't be treated and is always fatal. At an age when she should be racing from room to room with frantic joy, Celia is under hospice care. The red-haired child finds her greatest -- and sometimes her only -- comfort now in the lap of her mother or father. Her budding vocabulary has withered into silence, and her dark eyes see only light and shadow.Family works hard to make memories last
Blue Springs, MO family bands together while coping with girl's degenerative, life-threatening disease. Haylee used to love doughnuts. "Her favorite was glazed doughnuts," says her mom, Clarissa Joyce. "She loved them. I'd bring them home from work." At first, the little girl would eat them on her own. Later, it got to the point that Mom or Dad would have to tear one up for her. After a while, they'd have to feed it to her. Now, there are no more doughnuts for Haylee, a 2 1/2 year-old with curly red hair. She is suffering from a genetic, neurological disease that's slowly taking away one life function after another and will cut her life short.Batten Disease stealing 2 young lives
Chicago Tribue--September 16, 2009 Noah VanHoutan, a beautiful little boy with straight brown hair and green eyes, can't walk by himself anymore. He has seizures. His vocabulary has decreased to fewer than 10 words.
He is 5, and already his life is half over. Noah suffers from Batten disease, a genetic disorder that swoops down on a child who is developing normally and gradually destroys the brain. "We're in the fighting stage," said Noah's father, Tracy, a trader at the Chicago Board Options Exchange. "We think there's a lot in Noah left to save."
In the fight of their lives
Five-year-old Drew Grady of Upper St. Clair Township is a normal, active little boy trapped in an uncooperative body. He has a rare fatal affliction, a progressive, degenerative neurological disease known as Late Infantile Batten. The odds are against him reaching adulthood. A few months ago, Drew could run and play and hit a baseball straighter and longer than any boy his age. "He was always so far ahead of kids his age," said his father Chris Grady, a teacher in the Sto-Rox School District. Now, he can walk only with assistance, said his mother Valerie Grady, a customer service representative for a Pittsburgh printing company. His speech is severely restricted and his hands and arms are positioned at an abnormal angle.
Follow BDSRA on Twitter!
You can now follow BDSRA on Twitter. Please visit our Twitter site to stay connected with news and information from BDSRA. http://www.twitter.com/BDSRA
Awareness Days focus on Batten Disease
A Wish for Nicholas
West Michigan Family dealing with son diagnosed with Batten Disease
More from WZZM 13
Illinois General Assembly Recognizes Batten Disease Awareness Days
Duinstra family being helped by Chicago school children
Read more at Suntimes
Batten Story | Northern Texas
Columbia Access Arts provides accessible environment for special needs
A plastic tub mounded high with stamps of different imprints separated 15-year-old Austin Hein from his mother, Lugine Hein. Over and over, Austin pressed the stamps into a slab of gray clay. When the slab was covered with stamp imprints, Lugine took it and pressed it into a bowl, then put another piece of clay in front of her son.With a little help, special kids score.
The Cat5 Canes bring hockey to children often left out of team sports.Taylor's Tale and Batten Disease research
"Thanks to the Tip-off event committee, Blackfinn for partnering with us on this fantastic event and to all those who donated door prizes and raffle items! Taylor's Tale will host a second Tip-off for Taylor event on March 8 when North Carolina and Duke meet in the last game of the regular season."
While Children Suffer From Degenerative Disease, Parents Search for a Treatment