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.

The National Institutes of Health (NIH) has released funding information for 218 areas during the 2009 fiscal year. The table titled, “Estimates of Funding for Various Diseases, Conditions, and Research Areas,” shows the total funds spent in each category based on grants, contracts, and research conducted in the NIH’s own laboratories and clinics. The 218 categories included in the chart represent diseases, conditions, and research areas historically requested by and reported to Congress and the public at the end of each fiscal year. The NIH website specified that this “does not reflect the entire NIH research portfolio and budget,” that is does not “impact the way the NIH funds research or determines its research priorities”, and “does not change the way the NIH makes awards throughout the year for medical research.”

According to the chart, NIH spent $14 million on spinal muscular atrophy (SMA) research in fiscal year 2009, thanks in part to funding provided by the American Recovery & Reinvestment Act. The chart also estimates that SMA will remain at that funding level in fiscal year 2010.

Click here to view the entire “Estimates of Funding for Various Diseases, Conditions, and Research Areas” table.

From the FDA’s Office of Orphan Products Development and NIH’s Office of Rare Diseases Research:

The Office of Rare Diseases Research at the US National Institutes of Health (NIH), and the Office of Orphan Products Development at the US Food and Drug Administration (FDA), are pleased to announce the 2010 edition of their collaboratively developed course, “The Science of Small Clinical Trials.” This is a broad survey course (not a high-level statistical seminar), which is intended to heighten awareness of the methods that exist to design and analyze clinical trials using small numbers of participants. An inescapable necessity when dealing with rare diseases, the use of small trials is also rising in prominence in the context of tissue transplantation, advanced prosthetics, and individualized pharmacogenomics.

The first edition of the course, offered in 2009, was restricted to FDA and NIH staff. The 2010 edition of the course has been revised (based upon comments from 2009 participants), and is now open to ANYONE who wishes to register. The course comprises 7 2-hour lectures, presented at the Lister Hill Center Auditorium on the NIH campus in Bethesda, MD, from 16 February through 8 March, 2010; the lectures will also be available online via the Internet, live and by delayed on-demand video streaming (using freely available RealPlayer software), allowing anyone with a good Internet connection and appropriate computer to participate (questions from remote attendees will be received via a live text chat room, or via a discussion forum, on a web site dedicated to the course).

ALL participants must register. An optional self-administered open-book On- line examination will be provided at the end of the course, and individuals who pass this examination will receive a certificate from FDA’s Office of Orphan Products Development.

For more information about the course, and online registration, visit: http://small-trials.keenminds.org.

According to the course’s website, “the target audience is professionals interested in drug/device evaluation and regulatory affairs.” Currently, on-site attendance is full, so those wishing to participate must via the internet.

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.

Thanks to previous votes, the Gwendolyn Strong Foundation (GSF) won $25,000 for Spinal Muscular Atrophy (SMA) research in the Chase Community Giving campaign on Facebook. Now, for only one week from January 15th to January 22nd, SMA has an opportunity to win much, much more!

The charity that receives the most votes will win the top prize of $1 Million and five runners-up will get $100,000 each. 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. You can only vote for the Gwendolyn Strong Foundation 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.

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.”

To read the entire article, click 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.

All too often, news in the SMA community is full of sadness and heartache as spinal muscular atrophy (SMA) takes its toll. This makes celebrating happy stories that much more important. Here are two such stories.

The Children’s Wish Society of Malaysia (CWS) and MPH Group of Companies have made 13 year old Alicia Loh’s dream come true. Diagnosed with type 2 SMA ten years ago, Alicia has been enjoyed reading books and writing short stories. While visiting America for spinal surgery, Alicia wrote her own book entitled The Last Chapter about a girl trying “to understand the meaning of life.” Now, this book will be available for sale in MPH bookstores around Malaysia. For the full story, click here.

In Connecticut, the Takacs family received an amazing Christmas gift. A community of strangers came together to create a special portable bed for 4 year old Ethan who has type 1 SMA and had outgrown his crib. Ethan’s dad had gone to Hemingway Custom Cabinetry to investigate how much a special bed would cost to make. After learning more about Ethan and his needs, Hemingway Custom Cabinetry and their vendors donated time and materials to create the bed which they delivered last week. To read more, click here.

If you have more uplifting stories to share as we move into the new year, share them with FightSMA on Facebook or Twitter.

There is someone in the circles of people closest to you who would be delighted - in fact, honored - to make a major gift to FightSMA (www.fightsma.org). This may be a distant relative, a college friend who has “done well” or a business relationship who has become a friend.

For a person of means, a gift of $50,000 or even $100,000 is realistic. It’s not realistic for many of us (okay, pretty much ALL of us), but for someone who CAN make such a gift, it’s a blessing to them to make it. We have a responsibility, to the children we love and to the children we’ve met who are fighting SMA, to push through our own feelings of awkwardness or inadequacy - and we all have those feelings…all of us - and MAKE THE ASK.

So, take a deep breath. Or exhale a sigh of resignation…and read on.

And, hey, why are we on this planet anyway? To live cautiously and timidly? Are we supposed to end your days, saying “I should have…”

Hardly.

Listen to Shakespeare:

There is a tide in the affairs of men,
Which, taken at the flood, leads on to fortune;
Omitted, all the voyage of their life
Is bound in shallows and in miseries.

So, the “Three Questions to Ask Yourself to Reach the Miracle.”

1. Who have I avoided sitting down with and making the hard ask, even though I KNOW they can make a very large gift? You may have asked them before, and after an uncomfortable and long silence, a few avoided glances, and some clearing of the throat, they said they’d think real hard about it and that was the last of it. It may have been five years since you’ve brought it up. But you need to do it again. They may have softened. They may be in a better place to consider it. If you don’t ask, you don’t get. Think about this person, then think of an approach. Talk through your approach with someone who knows you well and can bolster your confidence.

2. If I made a list of possible people to contact, have I exhausted all my circles? I bet you can come up with three good, realistic prospects. Think back to high school. Did you know that the quiet kid in the cadet corps who couldn’t play Taps has made several million dollars on Wall Street? Find him. Get back in touch. How about Uncle Harry? He just sold his carpet cleaning company. It wasn’t huge, but he cleared about $1.5 million. What’s he going to do with the money? Let the IRS have it? Stop him from dumping it down that rat hole. And what about acquaintances at church, in the Rotary? At work? Make a list of 10 relatives. Who do THEY know?

3. Have you visualized the amount of money you’re going to get? Think about fifty one-thousand dollar bills. Think hard about them. See those crisp, pretty bills in a suitcase, or in a big grocery bag. Enjoy the fact that you’re going to get someone to give them to you, for the most important cause of your life. In your mind, toss the bills up into the air and watch them flutter to the ground. Giggle about it. IT’S JUST MONEY, AND YOU CAN GET IT. Figure out an amount you want to ask for and make it feel real.

You can do this.