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Volunteer with Dejerine-Sottas to help evaluate business accessibility (Chelsea, Michigan)

September 16, 2010

Filed under: People

Ashley Wiseman didn’t intend on making handicap accessibility in Chelsea’s downtown district her mission.

It just ended up that way.

Earlier this year on the Chelsea native’s 21st birthday, Wiseman wanted to celebrate at Cleary’s Pub because she thinks it has the best atmosphere and food in town.

But there was one problem: Wiseman suffers from a rare neurological disease that has bound her to a power wheelchair, and Cleary’s, like many businesses in Chelsea, is not wheelchair accessible.

“Cleary’s is totally inaccessible to me,” Wiseman said, explaining that while a manual wheel chair user would have less trouble getting into Cleary’s, she would need a portable unfolding step to make it inside from the front entrance.

Cleary’s owner Pat Cleary and other business owners seem more than eager to work with Wiseman and the Downtown Development Authority’s accessibility subcommittee led by Paul Frisinger, who is also Wiseman’s grandfather.

“When we found that Cleary’s only had a five inch step (Ashley and I) began talking about accessibility, and thought that maybe the DDA could help,” Frisinger said.

The committee has had a couple of preliminary meetings and is hosting presenter Carolyn Grawy, director of the Ann Arbor Center for Independent Living, at the Chelsea District Library at 8 a.m. Sept. 17.

Frisinger said the public is welcome to come and participate in addressing the task of making Chelsea a more “accessible friendly community.”

The subcommittee intends to discuss ways to mitigate construction costs, assist in planning and aid in securing grants and lower interest financing to pay for the architectural improvements that will be necessary to make the downtown more accessible to visitors with special needs.

Chelsea’s downtown has already seen improvements to sidewalks and the removal of old electrical wires that were out in the open on Main Street. Future redesigns of the downtown could include significant ramping as a result of the subcommittee’s study.

Frisinger said the timing is perfect with initiatives like Think Chelsea First and other efforts promoting Chelsea around the state and across the country.

That’s why Wiseman and Shana Mote, both members of the DDA study committee on accessibility went on a “roll thru” town this summer to evaluate the state of accessibility in the downtown as it currently stands.

Wiseman said she feels privileged to be able to help out.

Born with Dejerine-Sottas syndrome, Wiseman has gradually lost mobility since birth, which has given her experience with a broad range of accessibility issues.

“I haven’t always used wheelchairs, but it got worse as I was growing up,” Wiseman said.

Those born with Dejerine-Sottas syndrome have trouble moving because of interference between the central and peripheral nervous systems. The central nervous system cannot communicate with the peripheral nervous system that extends throughout the whole body.

“As I grew up and grew taller, that interference increased, and as I’ve grown up my disability has worsened,” she said. “After my spine was fused to treat my scoliosis I couldn’t bend, so I started using a power wheelchair on a full-time basis.

“Before that I was able to get out of my manual wheelchair and conquer that one step at Cleary’s. But you can’t easily lift a power wheelchair like you can a manual one.”

Any business with a step out front is a literal roadblock to Wiseman and others.

During the “roll thru,” Wiseman said that she was pleased to find that many businesses have back entrances often accessible through alleyways, but she said that one of the committee’s goals should be to make those paths friendlier.

Despite many businesses having some accessible entrances, there are two problems that Wiseman noted: the first is that they’re hidden and rarely indicated with signage and secondly they are not given the same aesthetic consideration as the storefronts facing major traffic on Main Street.

“A lot of them require you to go through an alleyway where the businesses keep their trash and the walls aren’t as well kept,” Wiseman said. “It also presents an issue of dignity and safety. It just doesn’t feel very nice using this alternative entrance that no one puts as much care into. And quite frankly at night it doesn’t necessarily feel comfortable going into an alley that isn’t very well lit.”

Another concern is whether or not there is someone who can help open the door. Wiseman has a helper dog, but sometimes she still needs assistance.

Signage, better lighting, general improvements like plantings and even art murals and other amenities similar to those in the alleyway near the Pottery Shed and Pierce’s Pastries would go a long way to making Wiseman and others feel better about Chelsea’s accessibility.

“If we can give those businesses that do have rear accessible entryways the resources to improve them, I think the will is there to do so,” Wiseman said. “Ideally I would like to see people with not just disabilities use the alleyway. Able-bodied people could have their pick.

“I’ve talked to women about strollers and how they can be a real pain getting into some of these places.”

She also said that the committee would be brainstorming on how to help businesses like Cleary’s, which do not have a rear or alley entrance.

Frisinger said the committee has a lot of work ahead of it due to the historical designation that blankets much of Chelsea’s downtown district.

Historical districts are not subject to the same Americans with Disabilities Association guidelines that businesses outside of such boundaries are subject to.

The Chelsea business community’s participation will be voluntary and based on willingness stemming from good will and a common interest to bring more people to downtown busi-nesses.

Wiseman, who works with the Ann Arbor Center for Independent Living, said she has seen accessibility draw customers to businesses in town.

Frisinger pointed out that Chelsea also has a large senior population due to the Chelsea Community Hospital and various senior living facilities in town.

“The number of people locally who accessibility is a concern for or is going to be a concern for in coming years is growing as well as tourism,” Frisinger said.

Variety appeal to set Chantelle Lawrence free

June 4, 2010

Filed under: People — Tags: ,

Chantelle Lawrence

Chantelle Lawrence is hoping the Variety appeal will help finance her electronic wheelchair so that she can get around unassisted.

by Josephine Gillespie for The Queensland Times

At only 13, Chantelle Lawrence has already seen the inside of more hospitals than most people will in a lifetime.

Born with a rare progressive neuromuscular condition known as Dejerine-Sottas Syndrome, Chantelle has endured 10 operations, including two hip reconstructions.

The West Moreton Anglican School year nine student is among the local children who Variety Queensland hopes to assist as part of its Variety Friday Radio Appeal on River 94.9 on Friday, June 11.

Mother Kerri said her daughter has inherited the condition from her father Raymond, who through a spontaneous gene mutation was diagnosed with the same condition close to 30 years ago.

Mrs Peters said while the family had received assistance to purchase an electric wheelchair through the Medical Aids Subsidy Scheme, they still faced a gap payment of more than $700.

The Brassall resident said the family also recently had to modify their home to better accommodate their daughter’s needs.

“We have renovated the bathroom and still have to do the kitchen,” Mrs Peters said.

“It is all ongoing costs.

“Raymond had to have his hip done last year and I had heart problems.

“It all mounts up and it can be difficult.”

Mrs Peters said monetary assistance through the appeal would mean her daughter could enjoy the freedom others took for granted, such as going to class on her own unassisted.

The Queensland Times general manager Steve Portas said the QT was fully supportive of the Variety Friday Appeal.

The children’s charity supports sick, disabled and disadvantaged children.

Variety Queensland has received more than $60,000 worth of requests for support in the region.

“The Variety appeal provides assistance to quite a number of needy Ipswich families and it is a great feeling to be able to make a difference to somebody’s life,” he said.

For more information about making a donation or hosting a Variety Friday event at your school or workplace in support of local kids, phone Variety Queensland on 3367 6999 or log on to

Girl with Dejerine-Sottas receives Children of Courage award

June 1, 2010

Filed under: People — Tags: ,

From the Macedon Ranges Leader, by Barry Kennedy:

Amber Jepsen

Amber Jepsen was one of 10 children to receive a Lions Club Children of Courage award

CARLSRUHE’S Amber Jepsen has a growing set of hobbies including horse riding, playing the keyboard, card games, drawing, painting and writing.

The seven-year-old is confident she will be a famous author and knows the full dimensions of her parent’s farm because she loves taking her dog for a walk in her electric wheelchair.

Amber’s many passions come despite some crippling setbacks caused by Charcot Marie Tooth disease of which she has an even rarer strand, Dejerine Sottas.

The neurological disorder affects signals from the brain to the spine and muscles making joints and muscles loose and fragile.

The disorder has prompted a range of physical impairments and health scares with hip and ankle surgery as well as having her spine stapled.

Amber’s mother Shelley said her daughter has no concept she even has a problem.

“She has lots of friends at Newham Primary School and at home she just hangs off everything as she criss-crosses the house,” she said.

Mrs Jepsen said the family knew the Royal Children’s Hospital too well especially as her health issues spanned many specialists.

Amber’s plucky attitude was last month honoured in the Lions Club Children of Courage award under the special needs category for children who have endured lengthy periods in hospital or with pain and trauma.

Chairperson of the awards Julie Starec said all of the nominees, aged between five and 15 had attempted to overcome their obstacles and improve the quality of their lives.

Ten children were nominated this year for the region incorporating the Macedon Ranges, Melton, Sunbury and Castlemaine including Ingrid Gersbeck from Clarkefield, 8 and Shae Benfell, 5, from Riddells Creek.

Sunburys Sophie Geytenbeek,12, also received an award for her strength suffering congenital heart disease. Molly Clohessy, 9, was awarded for her resilience in treatment for Dravet Syndrome. Patty Carlyon, 13, was awarded for an inspirational battle with leukaemia and Bulla’s Nathan Smith, 14, was awarded for his achievement over coming asthma to compete at a national level in swimming.

Schoolboy with Dejerine-Sottas wins international horse riding competition

April 30, 2010

Michael Murphy

Michael Murphy, who has Dejerine-Sottas, win an international horse riding competition

By Suruchi Sharma

A young horse rider at an Elstree riding school is celebrating his win as junior champion at an international tournament in Belgium.

Michael Murphy, 13, from Mill Hill, went to Moorsele, in Belgium, two weeks ago with his trainer Sarah Healing and his mother Sue Murphy.

Michael has trained at Penniwell’s Riding Centre for the Disabled, in Edgwarebury Lane, since he was five years old.

He was selected to ride for Great Britain in the under 21’s International Para competition with his horse Vinnie.

Michael has Dejerine-Sottas disorder, which affects the nervous system. He attends the centre every week instead of doing physical education lessons at his school in Mill Hill.

He said: “The GB team was really very supportive and competing was a lot of fun. It was a really good feeling to be there. More people should definitely get involved with horse riding. I really enjoy it and it has helped me a lot.

“The staff and volunteers at the centre have been great and helped me develop as a rider.”

Ms Healing said: “It has been fantastic and it’s a great achievement for Michael. He is a dedicated rider and who knows we could be seeing him in the future as an Olympic athlete.

“If he carries on the way he is going we might see him not the next Olympics but the one after.

“It’s would be great to work towards that.”

Michael’s mother, Sue, said: “It was a huge arena and there was an amazing atmosphere. I am really proud of Michael and what he has achieved.

“Coming to the centre has really helped him out and also it’s allowed him such opportunity. I want to thank the staff here for their help and continuing support.

The centre is also looking for volunteers for their Sunday service. Some experience with horses is preferred but not essential as all volunteers receive full training.

Sunday hours are 9am-1.30pm but the centre welcomes volunteers for a minimum of two hours also.

Anyone interested in volunteering at the centre can contact Penniwells RDA Centre on or 0208 207 4525.

For more information log on to

Rebecca Ionasescu, 86 Victor Ionasescu, 83

April 11, 2010

Rebecca and Victor IonasescuDrs. Rebecca and Victor Ionasescu, researchers into muscular dystrophy and Charcot-Marie-Tooth, have passed away after a long life with each other.

Dr. Rebecca (Gabi) Ionasescu, who specialized in internal medicine and conducted research in immunology back in Romania, joined Victor in the 1970s in his neuromuscular laboratory doing tissue cultures in Duchenne muscular dystrophy. Gabi became an expert at tissue cultures of muscle cells and studied media formulation in the lab of Dr. Richard Ham, who developed many of the serum-free media formulations used by labs today. Gabi then went on to learn the special techniques required for research in a type of genetic nerve disease called Charcot-Marie-Tooth neuropathy. In 1982, Victor and Gabi began their work with Charcot-Marie-Tooth neuropathy and spent 15 years searching for the genes that cause the debilitating disease. Victor along with his wife spent a sabbatical year at Oxford University in the lab of Dr. Kay Davies learning the specialized recombinant DNA techniques, which allowed them to carry out this research. Victor had one of the largest databases of patients afflicted with this disease in U.S, which was the foundation of his genetics lab.

Full text of the obituary inside.


Boy with Dejerine-Sottas in the news

March 11, 2010

My trusty sidekick Google alerted me to the following story of a boy with Dejerine-Sottas in England whose horseback riding program may be cut due to lack of funds and volunteers.

Michael Murphy, 13, has Dejerine-Sottas disorder, which affects the nervous system. He attends the centre every week instead of doing physical education lessons at his school in Mill Hill.
He has won a number of dressage awards and will be representing Great Britain at a dressage competition in Belgium next month.
His mother, Sue, said: “It would be terribly sad if the centre had to close on a Sunday as it really benefits the children and adults that come here.
“Parents are also encouraged by watching their children progress and I have been so happy to see my son not only enjoying himself here but also getting exercise to strengthen his core muscles.”

Knowing the way these things work (at least here in the States) I have to wonder if Michael took up horseback riding because his school doesn’t offer an adaptive physical education program and won’t accommodate him in a regular P.E. class. In any case, kudos to Michael for his achievements on horseback!
Full article after the jump.


9-year old hurdles her disability to be in PossAbilities Triathlon

April 27, 2008

LOMA LINDA – Abbey Umali does not care if she comes in last place.
The 9-year-old girl is just happy to compete in the sixth annual PossAbilities Triathlon today at Loma Linda University.
Abbey – who has a rare form of muscular dystrophy – will compete against other able-bodied athletes in her age group.
“First, we run, then we bike, then we swim,” said Abbey, the Muscular Dystrophy Association’s 2008 National Goodwill Ambassador. “It’s really fun.”


California Girl Named 2008 MDA National Goodwill Ambassador

January 8, 2008

Jerry-Lewis_Abbey-Umali.jpgThe Muscular Dystrophy Association’s 2008 National Goodwill Ambassador is Abbey Umali of Redlands, Calif., a lively and articulate 8-year-old with a form of Charcot-Marie-Tooth disease.
Abbey is the first MDA national goodwill ambassador to hail from California in the program’s 55-year history. She and her family will travel the country throughout the year, representing families affected by neuromuscular diseases and served by MDA, participating in special events and meetings of national MDA sponsors and speaking with the media.


Benefit for Maddie Zelt (Fort Wayne, IN)

October 10, 2007

Filed under: People

There’s a benefit for Maddie Zelt, the 18-month old daughter of Chad & Kaia, who was born with a disease called Dejerine-Sottas, a form of Charcot-Marie-Tooth. This is a neuromuscular disorder that causes damage to the lining of the nerves. Maddie sees several therapists weekly, takes many trips to Riley Children’s Hospital, is on a feeding tube, and has numerous special needs. Funds raised will help defray the expenses not covered by insurance.
In addition to an all-you-can-eat fish and chicken dinner on Sunday, October 21st from 11:00 am – 2:00 pm, there will be a bake sale, a silent auction (which ends at 1:30), and a live auction (begins at 2:15). Location is St. Peter’s Lutheran School, 7810 E. State Street, at the corner of State and Maysville.
Another chance to help Maddie is by getting your hair cut at Great Clips in Georgetown North on October 14th from 5:00 – 7:00 or until the last hair cut is complete. All proceeds will be donated to Maddie’s fund.

Quick mention of Dejerine-Sottas in article about Virginia Tech gathering

April 19, 2007

Filed under: People

This article about the gathering of Virginia Tech students following the shooting mentions a graduate student with Dejerine-Sottas:

Jessica Swanson, another graduate student at the convocation, said she knew one of the victims, Ryan Clark, whom she called “Stack.”
Swanson, who has Dejerine-Sottas syndrome, a neuromuscular disease that makes it difficult for her to speak, is studying for a master’s of business administration. Her comments were relayed through Kim Pagans, her assistant.
Clark, Swanson said, was “a really nice guy. A down-to-earth guy.”

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