Work in the Lorson lab at the University of Missouri, the DiDonato lab at Northwestern University, and the Kaspar lab at Nationwide Children’s Hospital have recently shown functional and developmental cardiac defects in two severe models of spinal muscular atrophy (SMA). The studies were conducted with mouse models, not SMA patients, and all three were recently published in the journal Human Molecular Genetics.
According to Dr. Chris Lorson, FightSMA’s Science Director and also an author of one of the studies, “collectively these results highlight the importance of additional tissues in SMA that may contribute to the overall pathology in SMA - most likely in more severe cases. This is especially important when developing and testing potential therapeutics in SMA models and as novel compounds progress towards the clinic.”
Click the links below to read the article abstracts:
Congratulations to long-time friend and advisor to FightSMA, Dr. Robert Leshner (pictured left), for his presentation about Pompe Disease at the 12th International Congress on Neuromuscular Diseases Meeting in Naples, Italy over the weekend. It was described by one of his peers as a wonderful talk by an internationally respected man often unrecognized because of his modest nature.
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:
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.
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.
Spinal muscular atrophy (SMA) patients are often cared for by a team of specialists - neurologists, pulmonologists, orthopedists, nutritionists, etc. The Wall Street Journal reported yesterday on a shortage of pediatricians trained in specialties such as these which is causing delays in treatment for patients across the country. According to the article, “shortages of doctors across a multitude of pediatric sub-specialties are forcing 90% of hospitals to delay appointments, lose patients or refer them elsewhere” and “for families, that often means waiting for months to see a specialist and incurring heavy travel costs, often to another state.”
Dee Horton and daughter Evie met with Senator Roger Wicker (R-MS) to thank him for cosponsoring the SMA Treatment Acceleration Act (S 1158).
FightSMA would like to thank all of the U.S. Representatives and Senators that have signed on to support the SMA Treatment Acceleration Act. Your leadership and dedication to finding a cure for spinal muscular atrophy (SMA) is admirable and appreciated by the thousands of people whose everyday lives are affected by this cruel disease.
As of August 12, 2009, the following Members have signed on as cosponsors of the SMA Treatment Acceleration Act (HR 2149, S 1158):
House of Representatives
Sponsor: Rep. Patrick Kennedy (RI)
Rep. Earl Blumenauer (OR)
Rep. Eric Cantor (VA)
Rep. Lois Capps (CA)
Rep. Yvette D. Clarke (NY)
Rep. Steve Driehaus (OH)
Rep. John Fleming (LA)
Rep. Bob Goodlatte (VA)
Rep. John J. Hall (NY)
Rep. Gregg Harper (MS)
Rep. Stephanie Herseth Sandlin (SD)
Rep. Brian Higgins (NY)
Rep. James A. Himes (CT)
Rep. Steve Israel (NY)
Rep. James R. Langevin (RI)
Rep. Carolyn B. Maloney (NY)
Rep. Eric J. J. Massa (NY)
Rep. Thaddeus G. McCotter (MI)
Rep. Cathy McMorris Rodgers (WA)
Rep. Mike McIntyre (NC)
Rep. Gregory W. Meeks (NY)
Rep. Adam H. Putnam (FL)
Rep. Harold Rogers (KY)
Rep. Joe Sestak (PA)
Rep. Bennie G. Thompson (MS)
Rep. Patrick J. Tiberi (OH)
Rep. Edolphus Towns (NY)
Rep. Joe Wilson (SC)
Rep. Robert J.Wittman (VA)
Rep. Frank R. Wolf (VA)
Rep. David Wu (OR)
Rep. C.W. Bill Young (FL)
Senate
Sponsor: Sen. Debbie Stabenow (MI)
Sen. Sherrod Brown (OH)
Sen. John F. Kerry (MA)
Sen. Johnny Isakson (GA)
Sen. Patty Murray (WA)
Sen. Jack Reed (RI)
Sen. Bernard Sanders (VT)
Sen. Sheldon Whitehouse (RI)
Sen. Roger F. Wicker (MS)
Don’t see your Members’ name on here? Let them know that you support the SMA Treatment Acceleration Act and they should too! Here’s 5 Ways:
Write a letter to your Congressman and Senators expressing your support of the bill. Need help? Click here!
Call your Members of Congress to let them know you support the bill. If you need contact info, call or email Caroline Gibson (804-515-0080, carolinegibson@fightsma.com)
Schedule a meeting with your Members in their district office. Email Caroline Gibson for help (carolinegibson@fightsma.com) Traveling to DC? Make an appointment in their Capitol Hill offices!
On Twitter? In just 30 seconds, you can “tweet” your Members of Congress by “Tweeting for a Cure” at http://www.EndSMA.org/twitter
Sign the PetitionToCureSMA.com. Over 69,000 people (and counting) have already signed!
FightSMA has produced a slideshow of photos from the 2009 FightSMA Annual Families and Friends Conference: The Good Fight held April 27-28 in Washington, D.C. Please check out the images below. To read more about the event, please visit the 2009 Annual Conference page!
Thank you to our attendees, corporate sponsors, Thriving with SMA panelists, and photographer Ralph Alswang.
The Temple News, a student publication of Temple University, profiled sophomore Jimmy Curran in the May 5th issue. The third of four children, Curran is the only child in his family who has type 2 spinal muscular atrophy (SMA) - a genetic neuromuscular disorder that affects motor neurons in the brain stem and spinal cord and disrupts the production of protein necessary to maintain muscle strength.
Despite being confined to a wheelchair and suffering muscle weakness, Curran hasn’t let the effects of the disease dramatically change his life. He is majoring in business at Temple University and plans to own his own business in the future. Just like any other college student, he enjoys hanging out with his friends and listening to music.
From the University of Massachusetts Medical School E.K Shriver Center:
Help Researchers Learn About Your Emergency Preparedness Needs
Natural and man-made disasters or emergencies like severe storms, forest fires, chemical spills, floods and pandemic flu can seriously impact many people at once, including families challenged by disabilities or special health care needs. Please help researchers understand your family’s needs related to disasters and emergencies by completing an online survey.
Researchers at the University of Massachusetts Medical School E.K Shriver Center want to learn about the emergency preparedness needs of parents of children with disabilities or special health care needs ages birth to 21.
The Shriver Center has been a pioneer in research, education and service for people with disabilities and their families for over three decades. Your responses to this survey will assist us to develop projects and programs to meet your needs.
The brief online survey will take only a few minutes of your time. You can access the survey by going tohttp://www.surveymonkey.com/s.aspx?sm=fQVHbDPlA_2bfwBNT9eH8xDQ_3d_3dor pasting http://www.surveymonkey.com/s.aspx?sm=fQVHbDPlA_2bfwBNT9eH8xDQ_3d_3d into your Internet browser window. Your responses to the survey will be completely anonymous, but essential since they will make an important contribution to the research.
For more information or questions about the survey, or to be placed on a mailing list to receive the survey results, please contact Sue Wolf-Fordham, Project Director, at susan.wolf-fordham@umassmed.edu.
Thank you for your help!
Sue Wolf-Fordham
E.K. Shriver Center
University of Massachusetts Medical School
200 Trapelo Rd.
Waltham, MA 02452-6319 USA
(tel) 781-642-0275
(fax) 781-642-0162
The National Institutes of Health (NIH) announced that Dr. Elias Zerhouni will be stepping down as NIH’s Director at the end of October. In an email to members of NIH’s extramural community, Dr. Zerhouni said, “I have had the unparalleled privilege of leading one of the great institutions in history,” and he included that he was leaving “to explore new opportunities and to devote much of my attention to writing.” Dr. Zerhouni has held the position at NIH since May of 2002.
“During his tenure, Zerhouni worked to lower barriers between disciplines of science and encourage trans-NIH collaborations,” said NIH’s press release announcing his departure. It went on to say “Zerhouni also led a major reform of the translational and clinical research system in the United States.”
To read the NIH press release and learn about Dr. Zerhouni’s accomplishments, click here.
The National Institutes of Health “is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases.” It is composed of 27 Institutes and Centers, including The National Institute of Neurological Disorders and Stroke (NINDS) which established the SMA Project, “a model translational research program to accelerate the process of developing a safe and effective treatment for spinal muscular atrophy.”
Over the past several months, the Fight SMA team and SMArt Board have been hard at work planning a brand-new fall celebration. This revamped and more casual party will take the place of SMAsquerade, and it promises to be a highlight of the 2008 campaign. We are so excited to unveil “To Fight Life Through” to all of our longtime supporters and new friends to our cause.
Our dynamic SMArt Board is thrilled to announce that the 2008 fall celebration will be held November 15, 2008 at the stylish and beautiful BANK (1005 E. Main Street in Richmond, Va.) from 6:00-9:00pm. Tickets are $50 (tax-deductible) and valet parking is available. The party will be a dazzling evening of cocktails (including signature SMArtinis!), hors doeuvres, a jazz trio, and - most importantly - a celebration of YOU! During the party, enter the Tiffany & Co. Raffle for a chance to win one of five signature Tiffany & Co. pieces! After the party, continue to celebrate the night away at Bank, or make your way down to Shockoe’s many fabulous restaurants and bars!
We’re looking forward to celebrating with you on November 15th!
Congratulations to long-time friend and 
The National Institutes of Health (NIH) announced that Dr. Elias Zerhouni will be stepping down as NIH’s Director at the end of October. In an email to members of NIH’s extramural community, Dr. Zerhouni said, “I have had the unparalleled privilege of leading one of the great institutions in history,” and he included that he was leaving “to explore new opportunities and to devote much of my attention to writing.” Dr. Zerhouni has held the position at NIH since May of 2002.
Over the past several months, the 
