Music gives disabled man a voice

August 26, 2012

Times Colonist | August 25, 2012 | By Amy Smart

Ari Kinarthy has a severe genetic disability that causes his muscles to waste away. He has been wheelchair-bound since age six – first manual, now electric.

At 23, his health is so fragile that the common cold puts him in the hospital several times a year.

But you wouldn’t know any of that, listening to his debut album, The Lion’s Journey, released June 12. Despite the very limited mobility caused by his Type-II spinal muscular atrophy, Kinarthy was able to compose and record jazz, rock and orchestral tracks, using a technology called Soundbeam.

He says it’s given him a new sense of purpose.

“I love to create things, the joy of creation is really what inspires me,” he said. “I never thought at the beginning that this would be a potential profession for me, but I do consider myself a composer and professional musician now.”

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Whittier mom trying to find cure for daughter’s disease

August 25, 2012

Whittier Daily News | August 24, 2012 | By Sandra Molina

WHITTIER – Jaclyn Davis first heard the words, “spinal muscular atrophy” in July 2010.

Her daughter Isabella Joy, who prefers to be called Bell, was visiting a neurologist, when he told the young mom his diagnosis.

“The neurologist sent me to a geneticist to have yet more blood work done,” Davis said. “On August 29th of 2011, just two months before Bell’s second birthday, I received the devastating news that the blood work confirmed she was positive for SMA.”

Spinal muscular atrophy, the number one genetic killer of children under the age of two, is an often fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.

There are certain moments in people’s lives that carry great significance.

For Davis, 24, this was one of them.

“I remember their words telling me that most SMA children don’t live past two years of age,” she said. “I though to myself, `well, she’s almost two, and she seems so healthy.”‘

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Richmond Family Learns, Lives, And Grows Despite Struggles

August 25, 2012

WTVQ-ABC | August 24, 2012 | By Amanda Stevenson

[VIDEO]: Richmond Family Learns, Lives, And Grows Despite Struggles

Danika Stockings, 15, has spinal muscular atrophy (SMA) a disease that causes muscle damage and weakness.

Unfortunately, it gets worse over time–as a child, Danika could walk with braces, but lost the strength to do it over time.

Now, the teen’s confined to a wheelchair.

Showering, dressing, and even getting up in the morning are all processes that others have to help her with.

Danika was adopted by the Stockings from Russia when she was 11 months old.

They brought her home on Christmas Eve…a running joke in the family that she was that year’s Christmas gift.

Four months later, though, she was diagnosed with SMA.

Nearly fifteen years later, she’s completely used to the disease…and strives to make her life as normal as possible.

Her younger sister, Ellie-Kate, even helps, offering to take the responsibility of caring for her once she’s old enough to do so.

So even despite the hardships of having SMA, Danika and family wouldn’t have it any other way.

You can help people like Danika in your own community by donating during the MDA “Show of Strength” on Sunday, September 2nd from 8 p.m. until 11 p.m right here on ABC 36.

Pediatric Rare Disease Group Works To Advance Clinical Research Bill

August 25, 2012

FDA Week | August 23, 2012 | By Nanci Bompey

Bipartisan legislation aimed at expanding the National Institutes of Health’s investments in pediatric research through the creation of pediatric research consortia could work with newly enacted provisions in the FDA Safety and Innovation Act aimed at accelerating drug approvals, according to an advocacy group spearheading the effort. FightSMA, the group backing the legislation, is pushing for the House Energy and Commerce Committee to take up the bill when it returns from August recess.

The National Pediatric Research Network Act, introduced by Reps. Cathy McMorris Rodgers (R-WA) and Lois Capps (D-CA), directs NIH to establish a National Pediatric Research Network consisting of up to 20 pediatric research consortia over a five year period that would be eligible for awards, including grants, for basic, clinical, behavioral or translational research to meet unmet pediatric population needs, including rare diseases.

The legislation is aimed at improving clinical trials to quickly move promising drugs to approval, said Steven Eichenauer, a partner at Public Strategies Washington, who is working with FightSMA to pass the legislation.

Eichenauer added the bill would bolster research that could utilize the recently expanded accelerated approval pathway, a provision in FDASIA. He said the National Pediatric Research Network Act would help put drugs in the pipeline that can then be sent to FDA for approval, providing “a supply of newly minted therapies that have shown promise in clinical trials and are now before FDA.”

The bill would ensure these consortia focus on conducting or coordinating multisite clinical trials for pediatric rare diseases, and would establish a data coordinating center to distribute the findings, including to FDA. The consortia would be modeled after the National Cancer Institute centers and would ensure funds are dedicated exclusively towards basic and translational pediatric research and would enable inter-institutional networking, according to FightSMA. The group works to accelerate the search for a treatment and cure for spinal muscular atrophy (SMA), the leading inherited cause of infant death, according to the group.

Martha Slay, co-founder of FightSMA, said the group decided to take a broader approach with the currently introduced legislation than it has in past efforts, which focused specifically on spinal muscular atrophy.

“I consider this a really historic moment for SMA and other pediatric rare diseases, going from obscurity to a place where something significant and material could be done to make clinical trials available to children who desperately need it,” she said.

Reps. Diana DeGette (D-CO), Gregg Harper (R-MS) and Peter King (R-NY) are cosponsors and a companion bill in the Senate was introduced by Sens. Sherrod Brown (D-OH) and Roger Wicker (R-MS), and is co-sponsored by Sens. Sheldon Whitehouse (D-RI), John Kerry (D-MA), Richard Blumenthal (D-CT) and Mark Begich (D-AK).

Eichenauer said the group is pressing for consideration of the bill by the House Energy and Commerce Committee when lawmakers return to Washington in September as several sponsors sit on the panel. He said committee staff have been involved in writing the legislation and it has been vetted by the committee. “The committee knows the bill well,” he said. Further, FightSMA said House Majority Leader Eric Cantor (R-VA) is a longtime supporter of their cause.

Eichenauer said the group hopes the House could approve the legislation on the suspension calendar and then the bill could come before the Senate. Some cosponsors of the bill also sit on the Senate health committee, which FightSMA has also been working with on the legislation. Eichenauer added the group doesn’t know if the bill will move on its own or will be attached to a bigger package. Sources have said moving any legislation before the elections could be difficult.

Eichenauer said sponsors of the measure are exploring the possibility of a score from the Congressional Budget Office, but said it would not affect FightSMA’s ability to move forward with the bill. The legislation could also face difficulty with the looming “fiscal cliff.”

“There is no question that federal funding is going to be a challenge now and in the coming fiscal year,” Eichenauer said. “One of the chief advantages (of the bill), is that it does use federal dollars in a more highly-leveraged way. It takes infrastructure that is already there and expands it to leverage those dollars smartly.”

FightSMA is working over the recess to gather support in Congress and among other groups, with the Coalition for Pediatric Research, the National Down Syndrome Society and the Parent Project Muscular Dystrophy endorsing the bill. Eichenauer said sponsors have discussed reaching out to other groups, including the National Organization for Rare Disorders.

Gwendolyn Strong Foundation and Santa Barbara Wealth Management Firm Join Forces to Raise Funds and Awareness for Spinal Muscular Atrophy Research

August 22, 2012

Press Release | August 22, 2012

Mission Wealth Management, LLC aims to raise $10,000 towards research for a cure for spinal muscular atrophy (SMA) with the Gwendolyn Strong Foundation ( at the Santa Barbara International Marathon on November 10, 2012.

SMA is the number one genetic killer of infants and young children. Currently, there is no treatment and no cure to help children suffering from this degenerative disease which hinders their ability to walk, stand, eat, speak, breathe, and swallow.

In fact, the National Institute of Health (NIH) has identified SMA as a “model disease” because any advance in SMA genetic research has the potential to directly impact the treatment or cure of more than 600 other diseases, including muscular dystrophy, Parkinson’s disease and Alzheimer’s disease.

Mission Wealth Management is joining Team GSF and their clients, the Strong family, to help raise money for research towards a cure. “In working with the Strong family with their personal financial planning, we became aware of their mission with the Gwendolyn Strong Foundation,” said Seth Streeter, Co-Founder and President of Mission Wealth Management, LLC. “We were so moved by their tremendous passion and commitment that we wanted to show our support by participating in the upcoming Santa Barbara International Marathon to help raise funds and awareness for this most worthy cause. We invite the whole community to join us in what will be a very special day.”

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Low oxygen levels may decrease life-saving protein in spinal muscular atrophy

August 21, 2012

MedicalXpress (in Genetics) | August 21, 2012

Investigators at Nationwide Children’s Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live longer. The findings appear in Human Molecular Genetics.

SMA is a progressive neurodegenerative disease that causes muscle damage and weakness leading to death. Respiratory support is one of the most common treatment options for severe SMA patients since respiratory deficiencies increase as the disease progresses. Clinicians have found that successful oxygen support can allow patients with severe SMA to live longer. However, the biological relationship between SMA symptoms and low oxygen levels isn’t clear.

To better understand this relationship, investigators at Nationwide Children’s Hospital examined gene expression within a mouse model of severe SMA. “We questioned whether low levels of oxygen linked to biological stress is a component of SMA disease progression and whether these low oxygen levels could influence how the SMN2 gene is spliced,” says Dawn Chandler, PhD, principal investigator in the Center for Childhood Cancer and Blood Diseases at The Research Institute at Nationwide Children’s Hospital.

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Taunton girl battles spinal muscular atrophy

August 18, 2012

Taunton Daily Gazette | July 30, 2012 | By Marc Larocque

About 11 months ago, Ashleigh Jacques was born to a Taunton family, appearing to be a happy and healthy baby.

But at three months old, her parents noticed frightening signs that something was terribly wrong with their daughter. She couldn’t move.

“We were all concerned,” said Ashleigh’s mother, Kristen Jacques, a social worker who lives in East Taunton. “She wasn’t moving at all. She wasn’t rolling over. She couldn’t lift her head. She had a hard time with her hands.”

Three months later, Ashleigh was diagnosed with Type 1 spinal muscular atrophy (SMA), the most severe form of the motor neuron disease. Doctors have given the baby a life expectancy of just two years.

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