Brighton mother takes health campaign to Prime Minister

June 24, 2011

Brighton mother takes health campaign to Prime Minister

The Argus | June 24, 2011 | By Siobhan Ryan

The mother of a little boy living with a rare illness has written to Prime Minister David Cameron to protest at proposals to close a children’s heart unit.

Susanna Nicholls says getting rid of the service would cut off a vital lifeline for her five-year-old son Daniel.

Daniel suffers from spinal muscular atrophy which has affected his muscles and left him unable to crawl, walk or even sit up unaided.

He needs a machine at night to help him breathe and has been in and out of hospital all his life.

Daniel, from Patcham, Brighton, has been treated by the specialist respiratory team at the Royal Brompton Hospital in London on many occasions and staff saved his life when one of his lungs partially collapsed.

Mrs Nicholls, 30, says that if the Royal Brompton’s heart unit closes, it will have a knock-on effect on other areas, such as the respiratory unit.

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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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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.

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Rockville Centre’s woman of distinction

June 1, 2011

Rockville Centre’s woman of distinction

LIHerald.com | June 2, 2011

Rockville Centre resident Debbie Cuevas was recently honored as one of the state Senate’s 2011 women of distinction. She joined other notable women at a reception on May 24 in the State Capitol building. Created in 1998, the Women of Distinction program honors outstanding women from across New York state who exemplify personal excellence, or whose professional achievements or acts of courage, selfless integrity or perseverance serve as an example to all New Yorkers.

“I am proud to honor Rockville Centre’s Debbie Cuevas as my 2011 Woman of Distinction,” said Senator Majority Leader Dean Skelos in a written statement. “Ms. Cuevas is mother, friend, nurse, caregiver, physical therapist, [spinal muscular atrophy] activist, and much more rolled into one. A true pioneer, Ms. Cuevas founded the Greater New York Chapter of Families of SMA in 2006, as a way to give back to her community. As [its] president [she] is instrumental in serving over 500 families who have been affected by Spinal Muscular Atrophy and continues to make a positive difference in the lives of others every day.”

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Brookhaven’s Whiz Kid

June 1, 2011

Brookhaven’s Whiz Kid

Brookhaven Patch | May 10, 2011 | By Andrea Botham

Aleena Hope Miller was born 7 years ago with a genetic disorder that has a typical lifespan of 6 months to 2 years. Yet this spunky girl has beat the odds with this defect that causes Spinal Muscular Atrophy (SMA) Type I, the most severe and fatal form of the disorder and has become an inspiration to her family, friends and neighbors.

SMA Type 1 restricts Aleena’s ability to move, swallow or breathe on her own, but this doesn’t stop her from living her life to its very fullest. Despite her full body paralysis she loves to learn, read books, watch Barbie videos, and enjoys her American Girl dolls.

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Our Heroes: Determined Tilly is a charity champion

May 23, 2011

Our Heroes: Determined Tilly is a charity champion

thisisStaffordshire.co.uk | May 23, 2011 | By Alex Campbell

BRAVE Tilly Griffiths depends on a hi-tech wheelchair to perform the basic functions most children take for granted.

But lack of mobility has proved no barrier for the 11-year-old – she has now helped to raise £2 million for charities and good causes.

Tilly, of Cheddleton, suffers with spinal muscular atrophy, a muscle-wasting condition which causes progressive weakness and loss of movement.

Her fund-raising efforts have helped the family pay back – with interest – the charities which have supported them throughout.

This month Tilly joined John Caudwell, founder of the Caudwell Children charity, on stage at the organisation’s Butterfly Banquet.

Her poignant testimony about the value of her motorised wheelchair, bought for her by the charity, sparked a surge in donations which topped £500,000.

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Benefit concert for spinal muscular atrophy Saturday

May 23, 2011

Benefit concert for spinal muscular atrophy Saturday

MercuryNews.com | May 18, 2011 | By Eric Louie

DANVILLE — Danny McHale was 6 months old when doctors diagnosed him with spinal muscular atrophy. His parents were told he probably wouldn’t live to his first birthday.

A decade later, the Danville boy is now a fifth-grader at Green Valley Elementary School. Among other interests, Danny is proud of the reigning champion San Francisco Giants and excited over the San Jose Sharks’ playoff run.

His parents and other families dealing with the disease, who on Saturday are holding their 11th annual fundraiser in hopes of finding a cure, said it’s because of children like Danny that they continue their efforts.

“If we stopped, they would think we’ve given up,” said his mom, Mary. “If you stop, the kids think there’s no hope.”

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James Frey opens up to Oprah about the loss of his son

May 23, 2011

James Frey opens up to Oprah about the loss of his son

MedPageToday.com | May 19, 2011 | By Michelle R. Berman, MD

Earlier this week, Oprah aired the second part of her interview with author James Frey. As some may recall, Frey came to his celebrity when he published a best-selling book, A Million Little Pieces, which was presented as a memoir of his experiences during his treatment for alcohol and drug addiction at a rehabilitation center in Minnesota. The book came to the attention of Oprah Winfrey, who was so impressed by it that she made it one of her Oprah Book Club selections, causing sales to skyrocket even further. However, it was later revealed that Frey fabricated large parts of his memoirs, including details about his criminal record. Oprah invited Frey back on her show for what turned out to be a confrontation about his deceptions. As part of her final season, Oprah once again sat down with Frey to discuss the whole controversy and how they have finally made peace with each other.

One of the most poignant parts of the two-day series was when Frey opened up to Oprah about the death of his son, Leo, at eleven days of age. Leo died of a neuromuscular disease called Spinal Muscular Atrophy (SMA). SMA is a disease where the nerve cells that control motor neurons are damaged. SMA belongs to a group of genetic diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), found on chromosome 5, which is responsible for the production of a protein (called SMN protein) essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die.

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Pranav and the Court Decision: Anti-Stem Cell Lawsuit Still Threatens Sick

May 2, 2011

Pranav and the Court Decision: Anti-Stem Cell Lawsuit Still Threatens Sick

Huffington Post | May 2, 2011 | By Don C. Reed

“He is right here,” said Pranav’s mother, in her lilting Indian accent; “would you like to speak to him?”

For a moment I was actually afraid; I don’t know why.

Pranav had Spinal Muscular Atrophy (SMA) a disease like a slow spinal cord injury. Like the paralysis which afflicts my son Roman Reed, SMA is not “catching”, and in any case we were on the telephone.

“Hello,” said a surprisingly deep voice, very dignified. I had a sudden thought — he sounded like a politician, a good one, somebody who would use the power of government to help people.

We talked about Disneyland and Elmo, both of which he strongly approved.

But the conversation was tiring for him, and we soon said goodbye.

He was three years old.

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Chilliwack group hopes to raise spinal muscular atrophy awareness

April 17, 2011

Chilliwack group hopes to raise spinal muscular atrophy awareness

Chilliwack Progress | April 15, 2011 | By Katie Bartel

Spinal muscular atrophy is the number one genetic killer for babies, and yet there is no cure or treatment.

In fact, when children under the age of two are diagnosed, their parents are often told to take them home and love them for as long as they have them.

That’s not good enough for a group, now based in Chilliwack, fighting for both treatment and cure.

Families of SMA Canada, which were previously based in Manitoba, moved to Chilliwack when Susi Vander Wyk, a longtime board member, took on the non-profit organization’s presidency role.

Vander Wyk, whose 14-year-old daughter has SMA, is determined to increase the organization’s support for children, parents and families with SMA.

Click HERE or on the image below to read more…

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