Nutrition is a critically important variable in the well-being of spinal muscular atrophy (SMA) patients, and there are many complex issues to be considered in the dietary management of an individual SMA patient. While as a community, we have made much ground toward a consensus on best practices for management of respiratory care issues, nutrition is still a relatively uninvestigated, and controversial, subject. This is an extremely important issue, particularly with regard to type 1 SMA children, who are extremely fragile, and often require special attention and management of dietary issues.

With support from SMA Angels Charity, the Pediatric Motor Disorders Research Program at the University of Utah has launched a new website, www.smaandnutrition.org to help SMA families provide SMA researchers with information that will help them investigate the impact of nutrition on the disease and to help SMA families evaluate their current nutritional regimen. From now until June 14, we’d like to especially ask all families with type 1 SMA patients to complete the SMA Type 1 Nutritional Survey, whether or not your child is on any special kind of special diet. This on-line survey should take approximately 15 minutes. The survey includes questions about feeding regimens and methods; select medications, equipment, and medical interventions; specific type of formulas regularly given to the patient; and how the diet is determined and adjusted. The short-term goal is to gather data on the frequency of use of special diets for type 1 children and to better identify the similarities and differences of types of special diets currently prescribed. We hope to gather information from as many possible families before June 14, and hope to present preliminary results in June.

**Please Note: Ideally, all participating families will fill out a detailed dietary record when they submit answers to the nutritional survey. The ultimate goal of this website is to serve as a tool to help provide feedback to families about their child’s diet, resulting in a report about possible nutritional deficiencies and recommendations that you can share with your local dietician and care providers. However, depending on how many responses received to this initial request, dietary record analysis may be delayed. During this initial launch period, they hope to assess how useful a tool this may be by assessing the interest of the community in this project. Ultimately, this project will only be successful with a majority of the community participating. Your participation is greatly appreciated!

The www.smaandnutrition.org also provides a link to the nutritional guidelines for SMA patients on the University of Utah School of Medicine research website. These guidelines need to be refined by real data from SMA patients. Participation in the survey requires a login and password. In order to receive login information for the website, SMA patients must be enrolled in the IRB approved research study “Clinical and Genetic Studies in SMA” which allows University of Utah to collect data about you or your child’s experiences and medical issues in living with SMA. Participants or their parent/guardian must sign a consent form to allow University of Utah to contact you to ask additional questions about you or your child’s medical history. It is not necessary to participate in the full study; you may elect to participate just for the nutritional part. To obtain a login, email smadiet@gmail.com or contact the Pediatric Motor Disorders Program research office for more information at 801-585-9717.

The material above was prepared with the assistance of individuals at the University of Utah’s Pediatric Motor Disorders Research Program and at SMA Angels Charity, Inc..

In less than two weeks, FightSMA will be returning to Washington, D.C. to host the 2010 FightSMA Annual Conference: The Good Fight. This meeting provides a unique setting for researchers investigating spinal muscular atrophy (SMA) and related conditions to discuss their work openly and chart a path forward. The Good Fight also brings together SMA patients, families, friends, and caregivers to learn about research being conducted around the world and to hear from health care professionals in fields important to the day-to-day lives of SMA patients.

The economy, illness, and other hardships can make travel difficult, or even impossible, for some. This is why FightSMA is pleased to once again offer SMA families, friends, doctors, and caregivers a way to access some of the content remotely. The Science Update by Dr. Chris Lorson (April 26th at 5:00PM EST) and the Thriving with SMA panel (April 26th at 6:30PM EST) will be available by live webcast. This access is offered for free by FightSMA and its conference sponsors. There is no limit to the number of viewers, and so, we ask you to share this information with other families affected by SMA and with your health care providers who would like to learn more about the disease.

For those who want to simply view the video, just visit the FightSMA Website. Anyone who would like to access the chat feature to ask questions will need to create an account on UStream, the video streaming service being used for the webcast. We recommend that viewers create their accounts and open the viewing webpage ahead of time to ensure that none of the presentations are missed.

We are very excited about our conference and anticipate an encouraging and very informative time together. We hope that you will attend and encourage your friends and health care providers to join us as well.

As she approaches the end of high school, Courtney Griffin is looking toward the next stage of her education: college. Like many students her age, she is touring universities, but unlike most, Courtney also has to consider accessibility and other factors because she has spinal muscular atrophy (SMA) type 3.

Recently, Courtney and her parents Terry and Deanna visited the University of Missouri, aka “Mizzou,” which is also the home-base of Dr. Chris Lorson, FightSMA’s Science Director. Dr. Lorson met with the Griffin Family and gave them a tour of his lab.

The Griffins sent this recap:

Our heartfelt thanks to Dr. Lorson for meeting with us and playing “Tour Guide Extraordinaire” at University of Missouri when we visited! We were in Columbia as an opportunity for Courtney to visit Mizzou’s gorgeous campus as part of her college search. Dr. Lorson showed us around the lab and introduced us to the many dedicated people working hard on the various SMA projects there.

We got a chuckle out of the fact that in his younger days, he used to play some hard-fought games of Ultimate Frisbee on the very spot where the Bond Life Sciences Center now stands - and where SMA research is progressing in earnest!

We had an incredibly productive day at Mizzou and we found an institution highly dedicated to accessibility, education, and research.

Thanks again Dr. Lorson!

Terry, Deanna, and Courtney Griffin

Satori Lewis is like a lot of girls her age, with one major difference: she has spinal muscular atrophy (SMA) type 2, the intermediate form of the genetic, neuromuscular disease. Because the muscle weakness caused by SMA, Satori has developed scoliosis and will soon be heading to California for spinal surgery. As her mother Melissa describes it, “they will open her back from the neck all the way down, insert 2 titanium rods, one on either side of her spine, wire the whole thing up and place donor bone in between all the vertebrae. Eventually it will all grow together “fusing” her spine into one long bone.”

After the surgery, Satori will have remain in the hospital for 7-10 days, but her mom has a plan to try to help that time pass better. Melissa has put out a request for postcards from around the US and the world to be delivered during her daughter’s hospital stay. The plan is to surprise this straight-A student with a new atlas where she can track where all the postcards originate. The hope is that Satori will get two things out of this: global well-wishes and a geography lesson.

For information about how you can send a postcard to Satori, click here.

A look at three people who were recently profiled in their local newspapers and who are living with spinal muscular atrophy (SMA).

Kyle Vezzaro

Kyle Vezzaro is loves basketball. He loves it so much that in addition to his college courses, he has two basketball-related jobs: team manager for the Carleton University men’s basketball team and assistant coach for the Ottawa Guardsmen boys team. He says that the players “often do a double-take” at first, but that is probably due to the power wheelchair that Kyle depends on to get around. He has spinal muscular atrophy (SMA) and while the muscle weakness it causes may slow him down, it hasn’t stopped him. With regards to coaching, Kyle says, “I just need to find new ways to explain things. But that’s the fun part of the game.”

Click here to read the article about Kyle Vezzaro.

Yew Leong

Yew Leong is not an average high school student. Born in Singapore, his family lived in Australia and in New Jersey before settling in Colorado. He excels in the advanced level classes of his school’s International Baccalaureate Program. He did an internship with the National Oceanic and Atmospheric Administration. And, he was diagnosed with SMA when he was just six months old. This means that Yew must rely on assistance - both human and machine - to complete daily tasks and to fulfill his larger goals. Yew wants to attend Berkeley for college and study biochemistry in hopes of someday finding a cure for his disease.

Click here to read the article about Yew Leong.

Sarah Cheung

When she was diagnosed with SMA at nine months of age, Sarah Cheung’s parents were told she wasn’t expected to live beyond the age of three. Now, she is finishing up high school and making plans for when she starts college in the fall. In between her duties as a volunteer tutor and her fundraising efforts to help send disabled children to camp, Sarah found time to serve as a Paralympic torchbearer. As Sarah Cheung puts it, “everything is possible. There are no boundaries.”

Click here to read the article about Sarah Chueng.

After their daughter Evie was diagnosed with spinal muscular atrophy (SMA), Jeff and Dee Horton perceived a lack of knowledge and awareness of SMA in their community and even among many doctors. Desiring to do everything in their power to help Evie and others like her, the Hortons founded Stop SMA, a non-profit dedicated to battling SMA.

Now, Stop SMA is in the running to raise $250,000 for SMA research through the Pepsi Refresh Project. As of today, Stop SMA sits in 4th place among $250,000 candidates, but they need to be one of the top two when the end of the month rolls around to qualify for funding. Supporters can help move Stop SMA up the list by voting each day in March and asking their friends and family to do the same.

At only 12 years old, Erinne Williams is already an inspiration to a lot of people. She was diagnosed with spinal muscular atrophy (SMA) at 14 months of age and doctors predicted she wouldn’t live beyond her 8th birthday. Because of SMA, Erinne has endured more than most of her peers, including multiple hospitalizations and surgeries. While the wheelchair she depends on is plainly visible, the metal rods in her back that help to counteract scoliosis are not. In addition, Erinne depends on a ventilator to help her breathe and a feeding tube to help her eat. But, despite having a disease that progressively weakens her muscles and she knows will some day take her life, today, Erinne is a seventh grader who enjoys playing wheelchair sports like hockey, soccer, and baseball.

Erinne has made such an impact on her community, that it has even rallied around her and her family - literally. A pep rally was help at Erinne’s school as part of an attempt to convince the producers of the tv show “Extreme Makeover: Home Edition” to help Williams family obtain a wheelchair accessible house. The application to the show is pending.

To read more about Erinne, click here or here.

To see footage about Erinne, click here.

Dr. Mary Schorth is widely known and respected by those in the spinal muscular atrophy (SMA) community. She is a Pediatric Pulmonologist at the University of Wisconsin’s American Family Children’s Hospital and is the Director of the Pediatric Pulmonary Center Training Grant. Building strong bonds with families around the country, she has been instrumental in the development and advancement of respiratory care for children with spinal muscular atrophy. According to Dr. Schroth, “if they get good respiratory care early on, they will live a long life.”

American Family Children’s Hospital recently profiled Dr. Schroth’s work with Sophia Doebbert, one of her patients with type 1 SMA. Sophia’s parents credit Dr. Schroth with providing them with the hope and the tools to care for their daughter, who is now eight years old. Click here to view the video.

In addition to treating SMA patients, Dr. Schroth has managed clinical trials, participated in the “Thriving with SMA” panel at the FightSMA Annual Conference, and contributed to the development of the Consensus Statement for Standard of Care in Spinal Muscular Atrophy. She also developed a pediatric multidisciplinary clinic for patients with neuromuscular disease, incorporating pediatric rehabilitation medicine and pediatric orthopedic surgery.

Seven year old Kiley McClay, pictured left, has spinal muscular atrophy (SMA). Because of muscle weakness, she gets around using a power wheelchair and receives help from her assistance service dog, Billy. And last month, Kiley made her big screen debut in the film “Extraordinary Measures.” Along with other children who use wheelchairs, Kiley was an extra in the movie. She appears for only seconds, but it was long enough for a close-up. According to Kiley’s mom, Rozie, “It’s not very long, but they showed her a couple of times, and at one point, she was on the whole screen.”

While the film is not about SMA, a story about parents pushing for research into a cure for the rare, neuromuscular disease affecting their children connected with Kiley’s parents, advocates for SMA research themselves. “Families and scientists and doctors are all working closely,” Rozie said. “In the movie, they end up getting a treatment, which is awesome. We’d also settle for a treatment.”

Read more, by clicking here.

Today, Friday, January 22nd, is the last day to cast your vote in support of Spinal Muscular Atrophy research in the Chase Community Giving campaign on Facebook.

The charity that receives the most votes will win the top prize of $1 Million and five runners-up will get $100,000 each. The Gwendolyn Strong Foundation (GSF) is trying hard to hold on to 6th place - a $100,000 eligible position.

GSF has pledge to give 100% to SMA awareness and research deemed most promising by the SMA community. Within 90 days after winning the Chase Community Giving prize, GSF will execute a unique online voting campaign and distribute all funds to the winning programs recommended by prominent and committed SMA scientists and voted most important by the SMA community. Thanks to the first round of voting, the Gwendolyn Strong Foundation (GSF) won $25,000 which has already been distributed to research.

You can only vote for the GSF once, so in order for SMA to have a chance at this critical funding, we need you to not only vote on Facebook, but get your friends and family involved as well.

Go to http://VoteForSMA.com to vote and to learn more.