Saanich yard transformed into mini-Disneyland for precious birthday

June 13, 2011

Saanich yard transformed into mini-Disneyland for precious birthday

Times Colonist | June 13, 2011 | By Larissa Johnston

Mickey and Minnie Mouse, princesses and a live band playing Coldplay and Justin Bieber covers: it’s any six-year-old girl’s dream birthday party.

But it was especially a dream come true for Shira Fisher, who used to celebrate with cake every month because she was born with muscle degeneration and weakness of spinal muscular atrophy.

“We celebrate a lot of things more than we ever have,” said her dad, Bradly Fisher.

Click HERE or on the image below to read more…

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Spinal Muscular Atrophy May Also Affect Sensory Neurons

June 13, 2011

Spinal Muscular Atrophy May Also Affect Sensory Neurons

National Institute of Neurological Disorders and Stroke (NINDS) | June 2, 2011

Until recently, most researchers thought that problems with spinal muscular atrophy (SMA) began exclusively in motor neurons, the cells that transmit signals from the spinal cord to muscles telling them to move. But a new study, led by George Mentis, Ph.D., an investigator at Columbia University in New York City, may change that view. His results, published in Neuron,* suggest for the first time that SMA may also affect sensory neurons, the cells that transmit movements and sensations to the spinal cord.

“It changes the way we think about SMA”, said Kenneth Fischbeck, M.D., chief of the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland.

Click HERE or on the image below to read more…

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Hens help league score miracles

June 13, 2011

Hens help league score miracles

toledaBlade.com | June 13, 2011 | By Julie Mckinnon

Toledo Mud Hens pitcher Robbie Weinhardt was ahead in the count against Corey Pappas when the batter suddenly made the Miracle League of Northwest Ohio crowd on both sides roar.

“Help me out, crowd, please,” the 21-year-old Oregon man good-naturedly pleaded before hitting a rubber ball he couldn’t see — but his father assured him was in the strike zone.

Mr. Pappas, who has cerebral palsy and cerebral blindness, played Sunday in the annual Miracle League of Northwest Ohio All-Star Game with help from three Mud Hens heroes: pitchers Weinhardt and Thad Weber and outfielder Deik Scram.

“This is an absolute joy to come help out these kids,” Weber said between helping Miracle League athletes in the infield. “This is the best part of the day right here.”

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The real lottery of IVF treatment

June 13, 2011

The real lottery of IVF treatment

Telegraph & Argus | June 13, 2011 | By Sallie Clifford

Leanne and Andrew Hardaker longed for a child of their own.

Both had children from previous relationships. Sadly, Leanne’s 11-month-old daughter, Chloe, died from the rare muscle-wasting disease spinal muscular atrophy.

Failure to conceive naturally led the couple down the IVF route, but because Andy already had children, they discovered they weren’t allowed free treatment on the NHS.

Determined, the Keighley couple sought treatment abroad, but when that failed they tried desperately to raise the money themselves.

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How Calvin College engineering students’ invention helps boy who can only move a few fingers

June 12, 2011

How Calvin College engineering students’ invention helps boy who can only move a few fingers

The Grand Rapids Press | June 8, 2011 | By Aaron Albanese

Vodpod videos no longer available.

BYRON TOWNSHIP — Isaac Postma directed his new motorized stroller across the Byron Center Christian School gymnasium floor, navigating his way with a rear-view camera, a couple of buttons and one finger.

The new means of mobility for Isaac, 10, who has spinal muscular atrophy and is limited to the use of just a few fingers, means he can more easily travel the halls of Byron Christian School where he is in fourth grade, join peers on the playground and roll around on the trails outside his grandparents’ cottage.

“Up north,” Isaac said when asked where he most looks forward to using the stroller designed by four Calvin College students. Electrical engineering students Matt Rozema and Rob VanderVennen and mechanical engineering students Matt Last and Dan Evans designed the cart from scratch. They spent more than 1,800 hours of their senior year building it before their graduation in May.

Click HERE or on the image below to read more…

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Heart, soul outshine Janesville Craig grad’s wheelchair

June 12, 2011

Heart, soul outshine Janesville Craig grad’s wheelchair

GazetteXtra.com | June 11, 2011 | By Frank Schultz

JANESVILLE — Talk with Kyle Knopes for a while and you soon forget the wheelchair and the condition that’s robbing him of his strength.

Knopes’ face radiates a kind smile and a mature intelligence. In the end, that’s what you remember about him.

It wasn’t supposed to be this way. He was supposed to live only eight to 12 years. He’s 18, now, and graduated Friday with the rest of the Craig High School Class of 2011.

Knopes suffers from spinal muscular atrophy. The condition doesn’t allow his body to produce new muscle. Over time, he loses strength.

Gazette readers might remember him as the child who went to China in 2009 with the help of local fundraisers to get injections of umbilical-cord stem cells.

After his first injection, he was able to roll from his back to his side, something he hadn’t done since he was 6, he said.

Click HERE or on the image below to read more…

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Couple wants to spread the word about little known genetic disorder

June 10, 2011

Couple wants to spread the word about little known genetic disorder

The Acorn | June 9, 2011 | By Sylvie Belmond

A young local couple who wanted to start a family saw their dreams dashed when they learned they both carry a little-known genetic defect that kills more children than any other inherited disease.

A month after their storybook wedding in Santa Barbara in May 2010, Stephanie and Brandon Humes decided to start a family.

“ We both just really love children,” said Stephanie Humes, who grew up in Calabasas. “Even on our first date we talked about children. It was important to us to have a family young so we could travel with our kids and do fun things,” she said.

To ensure that their baby would be healthy, the couple visited an obstetrician who offered a long list of genetic tests, including one for spinal muscle atrophy (SMA).

Most children who have Type 1 spinal muscle atrophy die before age 3 due to muscle weakness and atrophy.

Although Stephanie and Brandon had never heard of SMA, she said she opted to get the test because it was one of the top three suggestions on her doctor’s list.

When results showed that she’s a carrier of the defective gene, the doctor suggested that Brandon also be tested.

His test also came back positive.

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Leave a Comment » | Advocacy, Awareness, California, Carrier Screening, Gwendolyn Strong Foundation, United States | Tagged: , , , , , | Permalink
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New Approaches Open up in Spinal Muscular Atrophy

June 10, 2011

New Approaches Open up in Spinal Muscular Atrophy

PR Newswire | June 6, 2011

BOSTON, June 6, 2011 /PRNewswire-USNewswire/ — Spinal muscular atrophy (SMA) is the leading genetic cause of death in children under 2, with no treatment other than supportive care. In the Proceedings of the National Academy of Sciences (Early Edition, week of June 6), researchers at Children’s Hospital Boston show how loss or mutation of the SMA gene causes progressive muscle degeneration and weakness, and suggest a promising approach to treating the condition, sometimes referred to as a “Lou Gehrig’s disease of babies.”

Spinal muscular atrophy, or SMA, affects one in every 1 in 6,000-10,000 infants, but an estimated 1 in 35-40 people are carriers, according to the SMA Foundation. Infants with SMA are born with low muscle tone, and in many cases are too weak to breathe and swallow on their own; they usually die from respiratory failure.

The new findings reveal that loss of the SMA gene – and resulting depletion of a protein called SMN – makes nerve fibers from the spinal cord unable to navigate toward and form synapses (connections) with the muscles they’re meant to control. But they also demonstrate that this problem could be reversed in a zebrafish model of the disease.

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Bellevue girl keeps on smiling while battling disorder

June 10, 2011

Bellevue girl keeps on smiling while battling disorder

Sandusky Register | June 7, 2011 | By Alissa Widman

Kylie Niedermier’s little brother loves to greet her with a kiss on the cheek.

Luke Niedermier, 2, gently approaches her chair, lingers for a few seconds, and then scurries away with a grin on his face.

“I don’t call him my little brother, I call him my ‘little bother,’” Kylie, 6, jokes. “He’s silly.”

She urgently calls for her mother, Heidi Niedermier, to wipe off his “slobber spot.” She can’t do it herself.

And if she wanted to, Kylie couldn’t chase after Luke to return the favor.

Kylie lives with Type I spinal muscular atrophy, a genetic disorder characterized by progressive loss of muscle control and weakness.

It’s left her almost completely paralyzed.

About one in 6,000 to 10,000 infants are born with the disorder each year, according to the SMA Foundation’s website.

The condition requires constant care.

Kylie is fed through a tube and is often hospitalized for respiratory treatments and intubation because of her weak lungs.

But if you ask Kylie, she’s just an ordinary girl, with a love of dress-up, puppies and especially the color purple. She can do a lot of things — read, sing with Luke, and identify any bird that flies by her window.

Click HERE or on the image below to read more…

Leave a Comment » | Awareness, FSMA, Fundraiser, Inspiration, Ohio, United States | Tagged: , , , , | Permalink
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OP/ED: ORACLE Is Stronger Than BATGIRL Will Ever Be

June 10, 2011

OP/ED: ORACLE Is Stronger Than BATGIRL Will Ever Be

NEWSaRama.com | June 6, 2011 | By Jill Pantozzi

Who’s your symbol for strength in the DC universe? I’m sure a lot of you are thinking Superman or Batman right now. They’ve certainly got the physical strength and fortitude to make them the perfect candidates. While Batman is my all-time favorite character in comics, he’s not the first person I look to when I need to be reminded to keep fighting in this world. For that I look to Oracle.

For those of you who aren’t aware, I’m 28-years-old, I’m a natural redhead and I’ve spent the last fourteen ears or so using a wheelchair. I’m not paralyzed like Barbara Gordon, I have a disease called Muscular Dystrophy. There are over 40 different types of MD, I have one that is referred to specifically as Spinal Muscular Atrophy. It’s a degenerative disease that, with different levels of severity, causes progressive muscle deterioration and weakness on all aspects of the human body. I say I started using a wheelchair fourteen years ago, prior to that, my body was able to withstand walking the distances I needed to go. That hasn’t been the case for a while and things are only downhill from here unless science finally has a breakthrough. I know it will happen, I was part of a drug study just last year to help further things along, but will it happen in my lifetime? There’s no guarantee.

Click HERE or on the image below to read more…

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