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.

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.

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.

Attention SMA Families, Kids and Friends!

We want to share your story - starring YOU! FightSMA has a special campaign in early 2010 and we need your help. Send us videos of your family and children breaking barriers: from doing the unexpected (playing floor hockey, skiing, etc), to sharing a cool story about your family, to giving advice to other families, helping them make their lives just a little easier. In 2010, it’s all about you.

We’ll be picking our favorite videos to be showcased and to receive an extra cool prize. More details to come soon!

Please send your video submissions via email or hard copy, along with the patient’s name, age, SMA type, and a fun fact. Here’s how:

Electronically
carolinegibson@fightsma.com
Send us a link to the YouTube or other video hosting site, or via a filesharing website like YouSendIt

Hard Copy
From Our Family To Yours
Attn: Caroline Gibson
FightSMA
1807 Libbie Avenue, Suite 104
Richmond, VA 23226

Questions? Feel free to call or email Caroline anytime. 804-515-0080 or carolinegibson@fightsma.com.

By submitting a video for this campaign, you authorize FightSMA/Andrew’s Buddies to use the submitted footage in its original or edited form in any media. You also certify that to the best of your knowledge, all materials used in your video are your own or are materials for which you have obtained any necessary permissions. You further acknowledge that you submit the video freely and without expectation of compensation for any uses made of the submitted footage.

This morning, NPR’s program Morning Edition aired a commentary by Ben Mattlin, a writer from Los Angeles, California. At just six months of age, he began showing signs of spinal muscular atrophy, a deadly crippler and the number-one inherited genetic cause of infant death. In his commentary, Mr. Mattlin talks about the things he has accomplished despite his condition and how an uneventful year can also mean a good year.

To listen to the segment that aired or to read the transcript on the NPR website, click here.

To One Of The Lucky Ones, The New Year Means More
by Ben Mattlin

For me, this new year is as much about looking back as looking ahead.

I turned 47 in the past year. That in itself is miraculous. I was born with a neurological nuisance called spinal muscular atrophy. It gradually, relentlessly weakens muscles.

In my case, the weakening began at 6 months. About half of the babies with symptoms of SMA die before age 2. Their hearts and lungs become too weak to go on.

I was one of the lucky ones.

I’ve used a wheelchair my whole life. I no longer have the strength to hold a pencil. Am I still one of the lucky ones?

I believe I am. So, why do so many people feel sorry for me?

They don’t know me, of course. They don’t know that I grew up in a great family, graduated from Harvard, get my writing published, got married and fathered two terrific little girls. There are a lot of reasons why I consider myself lucky.

Still, people have said to me, “If I were like you, I’d kill myself.”

This is supposed to be a compliment, I think. They mean to commend my perseverance. So how come I want to say back, “If I were like you, I’d want to kill myself, too!”

Yes, there are some people in terrible circumstances, with painful illnesses, who do want to die. But there are also many, many people living in conditions I don’t envy — famine, war, abject poverty. People whose lives I wouldn’t trade for my own. And they retain a stubborn sense of hope and struggle on.

It happens every day. Nothing all that extraordinary.

Don’t get me wrong. I don’t see myself as a modern-day Tiny Tim, cheering everybody up. No, thank you. I reject holding myself up as a triumph of the human spirit.

At home, I grouse and kvetch all the time. It runs in the family.

Plus, life is rough. Like two years ago. I spent most of 2008 in a hospital bed. An infection required emergency surgery. Then something went wrong under the knife. I nearly died.

But here I am to tell the tale. So yes, I do feel lucky. 2009 wasn’t anything special. The usual assortment of good and bad. But it was blessedly drama-free. And that was enough to make it a good year.

Sure, I hope for better in the new year.

But even if I don’t get that, I’ll still say I’m lucky. Because sometimes, just normal is good enough.

Last week, Bill and Victoria Strong shared a story of meeting a man, Joe Barnick, who has inspired them in their care for their daughter Gwendolyn, who, like Joe, has spinal muscular atrophy (SMA).

From the Strong’s blog:

November 20, 2009

Joe Barnick, thanks for the inspiration!

This is such a small, small, tiny world in so many ways. Victoria and I have been researching and thinking through ways to use technology to help Gwendolyn communicate. There is a really cool application that we’ve been looking at, Proloquo2Go, that brings augmentative and alternative communication (AAC) to the iPhone/iTouch devices. It looks like it could potentially help Gwendolyn. I emailed support at AssistiveWare, the company that created the application, to ask a few questions and I received a very thorough response from a gentleman named Joe Barnick. It turns out that not only is Joe a very helpful customer support person at AssistiveWare, but Joe also has SMA. He is also the designer and editor-in-chief of the AssistiveWare Newsletter. He was very helpful and he sent me the YouTube video below that shows how he uses his Mac and an AssistiveWare application called KeyStrokes for “all the things he cannot do in the real world”. I feel so fortunate to have met Joe — for so many reasons. He’s an inspiration to me and he reminds me to never underestimate Gwendolyn’s abilities and — in his words — to “never stop fighting for your daughter and never give up hope! : )”. Joe, I can promise you that I never, ever, ever will!

I’m so glad that I met you Joe. Thank you for opening up my mind even more to what is possible and I look forward to keeping in touch! Keep up the great work at AssistiveWare…

Spinal Muscular Atrophy is too often unheard of among doctors. Over the years, FightSMA has been trying to build a list of medical professionals familiar with SMA and its effects. The existing list is a part of the SMA Guidebook on FightSMA’s website and can be found here. We would love the recommendations of SMA families and patients to help expand this list and to provide a valuable resource, especially to newly diagnosed families or those seeking a second opinion.

If you would like to recommend someone, we’d love to at least get their name, area of expertise and where they see their patients. If you have contact info, that would be even better. This information can be shared through email, Facebook, or Twitter.

Gabriella Garbero is an 18-year-old student at the University of Missouri. Like many freshman, she took part in rush which culminated in accepting a bid from the Kappa Kappa Gamma sorority. But with this experience, Gabriella made history at MU by becoming “the first woman in the university’s history to participate fully in rush while using a wheelchair.”

Gabriella has type 2 spinal muscular atrophy. To enter sorority houses during rush, a friend set up portable ramps so Gabriella could maneuver her wheelchair over stairs. Now that she is a Kappa Kappa Gamma sister, Gabriella keeps two temporary ramps at the house, which the sorority says will be replaced by permanent ramps. Despite these improvements to the house, Gabriella will not be able to live there due to additional accessibility limitations and her dependency on additional personal aides.

With the thousands of students with disabilities on campus, Gabriella does think it is strange that she is the first to pass this milestone. But, she does give her family credit for her decision to rush, saying “I was blessed to be raised in a family where I wasn’t limited just from being in a wheelchair.” Gabriella has already inspired others to follow in her path, as her roommate, who also uses a wheelchair, is considering the next rush season.

To read the full article from the Columbia Missourian, click here.

Stacy Zoern, a 30 year old attorney living in Austin, Texas, has written a memoir called I Like To Run Too, Two Decades of Sitting. The book is about her experience growing up with spinal muscular atrophy (SMA). The book describes the challenges she faces living in a wheelchair and the help she requires to accomplish daily tasks due to SMA’s effects. In a recent interview, she said, Zoern spoke about how her aides help her prepare in the morning for work, saying:

“You know all kinds of things, like I can’t reach the clothes in my closet. I need help picking my clothes, helping me use the restroom, taking a shower, washing my hair. I can’t even pick up my hands to wash my own hair. Then we part ways and I’m independently able to go to work right down the street.”

The interview goes on to say that “Zoern hopes her book inspires others living with disabilities to continue with their dreams despite physical limitations.”

To watch the interview or to read the report, click here.

Many families battling spinal muscular atrophy (SMA) could write volumes full of stories about their difficulties with insurance companies and their selective coverage. Thanksgiving day, the Washington Post ran a piece about a northern Virginia family who has a story to add to that tome.

Columnist Joe Davidson introduced the Rogers family. Shelby Rogers is eleven years old and has type 2 SMA. Davidson describes some of the equipment around her bedroom used to help her breathe, cough, and move. Shelby’s father, John, works for the federal government and the family is covered by Aetna insurance through his employer. Next year, Aetna is dropping coverage for the private nursing assistance that the family relies on to care for Shelby. While Shelby has Medicaid, it does not provide enough to pay for the nurses who dress and bathe Shelby, turn her as she sleeps, and exercise her weakening muscles.

To read the full article, click here.