ETX boy raises money for SMARD research

September 27, 2011

ETX boy raises money for SMARD research

KLTV | September 23, 2011 | By Lauren Callahan

WHITE OAK, TX (KLTV) – An East Texas boy has had Spinal Muscular Atrophy Respiratory Distress, or “SMARD”, since he was three months old.

And until recently, no one was researching the disease.

Now that a laboratory in Maine is devoted to learning more about “SMARD,” three-year-old Dakin Lovelace wants to help.

Dakin Lovelace was a healthy baby, according to his mom Devon. But when he was three-months-old, he stopped breathing. After many doctor’s visits, he was diagnosed with SMARD

“And so as a result of that Dakin can’t breathe on his own, he can’t walk. He can’t sit up on his own. Um, we are very fortunate, though, that he’s so strong. We’re very, very lucky, and he’s happy. His brain is not affected at all. He’s smart as a whip and he’s a happy boy,” says Devon.

His parents resigned themselves to the fact that Dakin would always be in a wheelchair and using a ventilator. Until they learned this summer about the Jackson Laboratory in Maine, where a researcher is starting to study SMARD.

“We lived pretty much three years having no hope whatsoever that anything anybody was doing was going to help Dakin,” Devon expressed.

There are about 60 known cases of SMARD worldwide.

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The Story and Purpose Behind Zane’s Run

September 22, 2011

The Story and Purpose Behind Zane’s Run

Malvern Patch | September 20, 2011 | By Pete Kennedy

Vodpod videos no longer available.

In 2009, Keith and Hillary Schmid lost their 5-month-old daughter, Zane, to type I Spinal Muscular Atrophy, a genetic disease that did not affect Zane’s twin sister Avery.

That year, the Schmids organized Zane’s Run, a 5K held at Sugartown Elementary School. The proceeds of the run helped supply informational packets and car seats to families facing the disease. The third annual Zane’s Run will take place Sept. 25 this year.

View the attached video to learn more about the Schmids’ story.

The Schmids hope to raise awareness and encourage people to be tested for SMA.

“Both parents have to be carriers of the disease to have a child with SMA,” Hillary Schmid said. “[Two carriers] have a 25 percent chance of having a child with SMA, a 50 percent chance of having a child be a carrier, and the other 25 percent chance that the child will be unaffected.”

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Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

September 8, 2011

Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

San Francisco Chronicle | September 8, 2011 | By Robert Langreth and Alex Nussbaum

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Goldman Sachs Group Inc. (GS) partner Dinakar Singh discovered in 2001 that his 19-month-old daughter, Arya, had a crippling genetic disease called spinal muscular atrophy.

The malady makes the nerve cells that control muscles gradually deteriorate. There are no treatments, let alone a cure, Bloomberg Markets magazine reports in its October issue. Worse still, while the gene causing the ailment had recently been discovered, nobody in the drug industry was doing much about it, he says.

“I was fearful and anxious that treatments would be developed, but far too late to save Arya,” says Singh, 42, who founded and runs New York hedge fund TPG-Axon Capital Management LP, which has $8.1 billion in assets. “We didn’t want to find out 25 years later that the science was really there but there isn’t a drug because nobody focused on it.”

Singh, who left Goldman in 2004, has spent almost $100 million of his own money to create and fund the Spinal Muscular Atrophy Foundation. He wants to discover and develop a drug that he hopes will help his daughter, who is one of 25,000 SMA patients in the U.S. Children with severe forms often die within a few years, while those with mild cases can live a normal life span with supportive care. Arya, 11, and starting sixth grade, uses a wheelchair.

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Representative Pete Olson makes a muscle and a difference for MDA

August 23, 2011

Representative Pete Olson makes a muscle and a difference for MDA

Fort Bend Star | August 10, 2011

On Wed., Aug. 10, Representative Pete Olson (R – Sugar Land) and Deputy District Director Robert Quarles met with several representatives of the Muscular Dystrophy Association (MDA) as part of MDA’s Fly Out to discuss Transitions Services and the obstacles faced by adults living with pediatric diseases. Each year in the United States, nearly half a million youth with disabilities and chronic health conditions cross into adulthood — and the numbers continue to grow. However, barriers continue to exist for young people seeking higher education, employment and independent living.

Tomas Diaz, a 22-year-old living with Spinal Muscular Atrophy (SMA) Type II and former MDA Goodwill Ambassador, spoke with Representative Olson about middle-class young adults who don’t have the financial resources to support themselves and who also don’t qualify for government assistance.

“The greatest need in our quest for independence is finding qualified live-in attendants to help with everyday necessities,” said Diaz, who is also pursuing a master’s degree at St. Thomas University in Houston. “What if there is an emergency at my house and I can’t get out of bed? Unfortunately, private insurance and the Department of Aging will not cover the cost of an attendant living in a patient’s home.”

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Health check on babies improved

July 18, 2011

Health check on babies improved

Leicester Mercury | July 18, 2011

A mum whose baby daughter died from a rare genetic disorder has succeeded with her campaign to bring in a training programme for health visitors.

Lucy Wright’s daughter Georgia died from muscle condition spinal muscular atrophy (SMA), aged seven months, in August 2008.

Since then, her mum, of Melton, has worked with a charity to urge NHS trusts to bring in training for health visitors which would help them to identify the condition earlier.

Leicestershire Partnership NHS Trust, which is responsible for health visitors in the county, is believed to be the first organisation in the country to bring in the training.

Lucy, 30, said: “If the training had been in place when Georgia was born, her condition might have been diagnosed earlier and it would have given her more quality of life in the time we had with her.

“I am pleased my campaign for the extra training in Leicestershire and Rutland has been a success but my work continues.

“I would like to see it introduced in every primary care trust in the country.”

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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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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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Crunch Time for Paralysis Cure!

May 23, 2011

Crunch Time for Paralysis Cure!

Daily Kos | March 23, 2011 | By Don C. Reed

If you would like California to support research to cure paralysis, today is the day to be heard.

If you support research to cure paralysis, there are some California legislative Aides who need to hear from you!

It does not matter where you live. The importance is that they hear from you.

Write to the aide—the member’s name follows. Remember, just a sentence or two is all that is needed! If you want ideas, take a look at the latest I put together, at the bottom. If you only have time to do one, make it the top, aide for the chairman, Felipe Fuentes, and the vice-chair, Diane Harkey.

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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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