2010 June | Spinal Muscular Atrophy

Archive for June 2010

Steve Eisenberg, Richmonder and SMA patient, writes editorial in Richmond Times-Dispatch

Posted: June 28th, 2010 | By: Staff | No Comments

Monday, June 28th, 2010

On Sunday, June 27, 2010, Richmond local and spinal muscular atrophy (SMA) patient, Steve Eisenberg, h ad his voice heard loud and clear in the Richmond Times-Dispatch. Eisenberg, 32, wrote a letter to the editor about his story and his passion for seeing the SMA Treatment Acceleration Act (HR 2149, S 1158) become law.

Eisenberg thanked the Virginia delegation for their continuous support over the years, especially Congressman Eric Cantor (R-7th) for serving as the lead cosponsor for the bill. Mr. Eisenberg also spoke to the Congressman’s important position in leadership, and his ability to help us move this legislation forward as swiftly and efficiently as possible.

The SMA Treatment Acceleration Act, led by Congressmen Patrick Kennedy (D-RI) and Eric Cantor (R-VA) in the House, and Senators Debbie Stabenow (D-MI) and Johnny Isakson (R-GA) in the Senate, currently boasts 106 bipartisan cosponsors in the House, and 20 bipartisan cosponsors in the Senate.

To read Mr. Eisenberg’s editorial, please click HERE.

For more information on the SMA Treatment Acceleration Act and how to contact your Members of Congress, please contact Caroline Gibson, Public Affairs Coordinator (804-515-0080 or carolinegibson@fightsma.com).

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Categories : FightSMA Articles, SMA Treatment Acceleration Act, Spinal Muscular Atrophy Families and Friends

SMA mechanisms and therapeutic strategies

Posted: June 23rd, 2010 | By: Staff | No Comments

Wednesday, June 23rd, 2010

Human Molecular Genetics issue cover This month, the journal Human Molecular Genetics published a special issue focused on advancements in neurological and neurodegenerative diseases. Included in this issue is an article by FightSMA’s Science Director Dr. Chris Lorson and colleagues from his lab at the University of Missouri entitled “Spinal muscular atrophy: mechanisms and therapeutic strategies.”

The abstract:

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of Survival Motor Neuron-1 (SMN1). The clinical features of the disease are caused by specific degeneration of α-motor neurons in the spinal cord, leading to muscle weakness, atrophy and, in the majority of cases, premature death. A highly homologous copy gene (SMN2) is retained in almost all SMA patients but fails to generate adequate levels of SMN protein due to its defective splicing pattern. The severity of the SMA phenotype is inversely correlated with SMN2 copy number and the level of full-length SMN protein produced by SMN2 (~10–15% compared with SMN1). The natural history of SMA has been altered over the past several decades, primarily through supportive care measures, but an effective treatment does not presently exist. However, the common genetic etiology and recent progress in pre-clinical models suggest that SMA is well-suited for the development of therapeutic regimens. We summarize recent advances in translational research that hold promise for the progression towards clinical trials.

For more information, click here.

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Categories : Spinal Muscular Atrophy Science and Research

For You, Dads

Posted: June 20th, 2010 | By: Staff | No Comments

Sunday, June 20th, 2010

Bill Strong with Gwendolyn

What Makes A Dad
God took the strength of a mountain,
The majesty of a tree,
The warmth of a summer sun,
The calm of a quiet sea,
The generous soul of nature,
The comforting arm of night,
The wisdom of the ages,
The power of the eagle’s flight,
The joy of a morning in spring,
The faith of a mustard seed,
The patience of eternity,
The depth of a family need,
Then God combined these qualities,
When there was nothing more to add,
He knew His masterpiece was complete,
And so, He called it … Dad
- Author Unknown

Every June, daughters, sons, mommies, sisters, brothers, and friends head to their local drug store to pick out the perfect card for someone they know that’s a terrific father. Some cards will make him laugh; others might make him cry (though he’d never show it). He’ll rest the card on the desk in his office, a smile crossing his face each time he recalls the kind, handwritten words written inside, punctuated with a “Happy Father’s Day.”

He’ll receive electronic gadgets, tools, ties, and socks. He might even get breakfast in bed. But the greatest gift of all that day is the reason why we celebrate him in the first place: his CHILD.

They say a parent’s love is the most powerful love in the world. You all know that. The love you feel for your children is deep and unconditional, ever growing AND ever present. You would go to the ends of the Earth for your child, and beyond if you could. And today, Dad, we honor you. We thank you.

The SMA community is overflowing with love for our precious children. The level of understanding between the parents runs deep. This is a special community, filled with special parents, and most importantly, special kids.

FightSMA invited a few special dads to share special Father’s Day story with each of you:

Mike Calise, Dad to Corinna
Cranston, RI
Corinna’s Angels (www.corinnasangels.org)

What has being a Dad meant to you?
Being a dad is a tremendous joy and responsibility. Your priorities change the second you have a child; you and your spouse share an overwhelming sense of love, gratitude and responsibility as a result of having a child together. Being a dad of a child with a disability is even more challenging but the rewards are so much greater. There is no greater feeling than sharing special times with my daughter, Corinna. I really appreciate every bit of fun that we have and every new experience we are able to share.
What is your favorite thing to do with Corinna?
I love to just hang out with Corinna and play the Wii or Nintendo or just watch her favorite movie or TV show. Corinna has an incredible spirit and great sense of humor that makes every minute with her enjoyable.
Do you have a special message for the other dads this Father’s Day?
Words of wisdom to other fathers: Appreciate and love your child and family like it could be your last day together. At the end of the day, there is no greater feeling of love than that which you share with your family.

Bill Strong, Dad to Gwendolyn
Santa Barbara, CA
Gwendolyn Strong Foundation (www.gwendolynstrongfoundation.org)

What has being a Dad meant to you?
Being Gwendolyn’s Dad means the world to me. Regardless of how short my time with her will be, I consider myself unbelievably fortunate to have been given the gift of time with my precious daughter. Over the past 2 1/2 years, I’ve learned more from Gwendolyn about myself and what is truly important in life than I had over the previous 31. Getting to meet Gwendolyn has changed my life, challenging myself to truly know her and always be present with her continues to fulfill me, and striving to provide her the quality of life she deserves and cherishing every second that I have left with her is and always will be my number one priority.
What’s your favorite thing to do with Gwendolyn?
My favorite things to do with Gwendolyn are anything and everything that sets off that soft, infectious giggle, inspires that sparkle in her eye, and strengthens that deep connection between the two of us. I love my “Daddy Saturday” walks together, finding new crazy adventures, reading her books, teaching her new things, our snuggle time, and being the last one she sees at night and the first one she sees when she wakes up. More than anything, I simply love spending every possible second — focused on the present — together with Gwendolyn.
Do you have a special message for the other dads this Father’s Day?
Happy Father’s Day to all of the dads who are fortunate enough to have an incredible daughter/son in their life like Gwendolyn.

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Categories : General Information

Second Lemonade Stand Stands Strong

Posted: June 10th, 2010 | By: Staff | No Comments

Thursday, June 10th, 2010

Last year, the Nyhuis family and their friends, family, and community organized their first lemonade stand to raise funds to support FightSMA’s mission to strategically accelerate research toward treatment and cure for spinal muscular atrophy (SMA), a deadly crippler and the number-one inherited genetic cause of infant death. Calling their group “Tatum’s Team,” after the young girl diagnosed with type 3 SMA, they raised $250.

On June 5th, they were at it again, holding another lemonade stand. This year they’re efforts were rewarded 500% as they raised $1,500 from supporters in their Virginia neighborhood and across the country who want to join the fight to end this disease.

Thank you to all the members of Tatum’s Team for your fantastic work!

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Categories : FightSMA News, Spinal Muscular Atrophy Families and Friends

A special opportunity to help FightSMA

Posted: June 8th, 2010 | By: Staff | No Comments

Tuesday, June 8th, 2010

Dear Friends of FightSMA,

For the past two decades, FightSMA/Andrew’s Buddies Corporation has been dedicated to finding a treatment or cure for spinal muscular atrophy (SMA), the number-one genetic killer of babies under the age of two. FightSMA has brought attention to the disease through national and local media outlets, and the organization has worked tirelessly to raise money to fund critical research studies and campaigns. Thanks to the generous support of our friends in the fight, FightSMA has funded SMA researchers at academic institutions and biotech corporations in the United States, the United Kingdom, France, Italy and Canada. We have been involved since the initial (and successful) search for the gene that causes SMA and continue in the more recent efforts to identify compounds which can compensate for the faulty gene and, ultimately, provide treatment for the disease. (Read more about FightSMA’s work.)

We have been able to accomplish many great things over the years, thanks to the ongoing dedication of our friends, like you.

GreatNonprofits Logo If you love the work that FightSMA is doing, this is another chance to help us! You have an exciting opportunity to help make even more of a difference in our community. The review website GreatNonprofits is conducting a campaign to identify the top-rated health nonprofits in the country.

Won’t you help us participate in the campaign by posting a review of your experience with us? All reviews will be visible to potential supporters and volunteers. It’s easy and only takes 3 minutes!

Click here to start your review. (Listed as Andrew’s Buddies Corporation.)

With your help, we can gain greater visibility in our community.

Thank you,
FightSMA