Updates from Charley's Mom

The Year of Doing Everything

2010-07-17T02:48:45Z

Charley is 9 and three quarters years old. When I was a kid looking forward to turning 10, all I could think about was "double digits" and how cool and mature it seemed to have two digits in my age. I felt the same way last year, when my older son Sam turned 10. To have my little boy hit that double digit number seemed like such an important and exciting leap. But as Charley's birthday looms, it's not numbers in my head but words -- specifically the phrase "wheelchair from 10-12 years old." I have repeated those words -- and continue to repeat them -- over and over and over when I tell my story, to teachers, to new acquaintances, at fundraisers. And now my world is colliding with those words. A phrase that became almost rote as I repeated it so many times is all of a sudden fresh and raw and frightening.

We have moved mountains over the past 5 years. If we continue at this pace, Charley and other boys with DMD will surely have not one but several treatment options to extend and improve their lives. Research we got involved in when it was still being worked on in cells and mice has now moved to the clinic. Prosensa's exon skipping drug is in clinical trials in several European countries. Sildenafil is being tried in 30 DMD boys at Kennedy Krieger Institute in Baltimore. Acceleron and Biomarin are two other companies that have DMD drugs in clinical trials. Remember that when Charley was diagnosed in 2004, there was not one human clinical trial for a promising treatment. The progress is astounding.

I know Charley will have treatment options. But I also know that he is 9 and three quarters, and he has four months to go until he's 10 and then we're in that "wheelchair from 10-12 years old" phase. Not every boy with DMD loses ambulation between the ages of 10 and 12. Chronic steroid treatment has prolonged ambulation for approximately two years, giving boys extra time on their feet. And some boys who don't use steroids stay on their feet longer than average. Others end up using a wheelchair when they are 8 or 9. So I don't know exactly how long Charley has to continue playing backyard soccer and "balloon ball" (a really dumb game in which he and his sister bop a balloon up in the air and then both of them try to get to it first, nearly colliding every time) and getting in and out of the car without help.

Nonetheless, I'm determined to stockpile some incredible experiences now. Starting today, I have officially declared this the Year of Doing Everything. From Summer 2010 through Summer 2011, Charley and I and the rest of our family are going to do all the things we keep saying we should do, but never get around to. I'm going to focus on Charley's choices knowing that soon it may be hard or even impossible for him to do the things he's always wanted to do. We'll surely be hitting a lot of professional sporting events. Top on his list are a game at the new Yankee Stadium, watching the men's finals at the US Open (he'll probably have to settle for 3rd round given our budget!), and any professional basketball game but ideally the Lakers. He has his heart set on a concert featuring either Black Eyed Peas or Jay-Z. And a trip to China or Mexico are both top choices (guess where we're going?!). This is an APB to all my friends and family and acquaintances -- if you have freebies or amazing seats to any of the above that you got through work or through a friend or you can't use them or you have extras, please think of Charley! A huge priority for me this year is to pack it with fun.

Charley is still bopping around in his usual exuberant manner. He's tiny for his age (thanks to chronic steroid use) and his 'fro is way-out (thanks to a stubborn refusal to trim his hair) and he's been practicing his dance moves, so the overall image he projects is a very cool, compact dude on the move. I'm still betting that all the amazing stuff we do this year will be his firsts of many...and that as a teenager he'll be climbing the rafters to his seats in Yankee Stadium and standing on two feet grooving at an Eminem concert. I hope we have a year packed with sporting events and concerts and an incredible vacation, and that it ends up being practice for a long life filled with these unforgettable experiences.

Broken Wrist

2010-05-10T02:08:34Z

Sometimes for a few blissful minutes, I forget that Charley has DMD. To you that might seem impossible, since we're constantly faced with daily reminders of Charley's disease. Every evening we follow a rigorous routine of supplements and stretching. Since long walks are challenging, we often have to break out our handicap parking placard. And while Charley's brother and sister juggle soccer games and karate lessons, we always have to make sure Charley occupies himself with ping pong, board games and other less strenuous "substitute" activities.

Yet despite the significant accommodations we make for Charley on a daily basis, we still sometimes get lulled into feeling like he's just a typical kid. He has such a passion for sports and outdoor play, and he's such an energetic little bugger. He is just not the type to sit inside and mope about DMD.

This week, we got a harsh reminder of how fragile Charley is. During a recess soccer game at school, Charley was playing goalie. He almost always plays goalie because running up and down the field is way too exhausting for him. He blocked a kick with his hands and the ball bent his handbackward at the wrist, breaking the bone. After a few minutes of rest and ice, Charley got back in goal to finish the game. But back in the classroom, his teacher could tell Charley wasn't himself. She called to say, "For a kid who doesn't generally complain about aches and pains, I can tell something was wrong."

So to the ER we headed, and sure enough the xray revealed a buckle fracture of the left wrist.

The hardest part is that we just don't know how to be the best possible parents. We want him to play outside; we want to encourage his "nothing can stop me" spirit...but we don't want him to break another bone. Charley's bones are fragile due to chronic steroid treatment, so he is more susceptible to fractures than other kids. At his age, a broken leg could mean the end of ambulation. So it's pretty scary to give him the leeway to play outside with his friends and wrestle with his brother and participate fully in whatever recess activity he wants to do.

Charley has already started arguing with us about how long he has to lay off the sports. I hate to limit him...I want so badly for his exuberant spirit to prevail. But the broken wrist incident knocked the wind out of my sails, I must admit. With these new therapies so close, I know we have to do everything we can to keep Charley on his feet for as long as possible. The responsibilty of keeping him safe and sound has never felt so weighty.

DMD is heavy duty, and I know the thoughts I express here can be pretty depressing. But you know I will always end on a positive note...We're lucky that as far as broken bones go, this was a minor fracture. And it was his left arm, thank goodness (he's a righty)! And two of his 18 cousins also happen to have broken arms this week...so Charley's in good company. He can't wait to compare blue casts with his cousin Izzy to see who has more signatures!

New House

2010-02-04T17:38:09Z

I am elated to finally be installed in our new house for so many reasons. First of all, I can now get back to my main job, which is raising money for Charley's Fund. With almost all of the house-related decisions behind us, a good part of my day is freed up to focus on raising funds. I've even become somewhat adept at getting the word out on Facebook, despite my initial aversion to that platform. Speaking of Facebook, Benjy and I are hosting a contest in honor of our upcoming 40th birthdays to see who can collect more birthday donations for Charley's Fund!

Learn more about this friendly competition.

Check out my Facebook birthday wish...and help me beat out Benjy by making a donation toward my wish!

If you want to join the fray but you don't "do Facebook" (and believe me, I understand that decision), please make a donation via our website in honor of one of our birthdays. On Mar 31 we'll announce the winner for most donations as well as biggest total collected.

Back to the house...It's a huge relief to have more space so the kids (and Benjy and me) aren't in each other's faces 24-7. Sam, Charley and Maisy are thrilled to have their own rooms. I love and adore my extra deep bathtub. But when you live with DMD, it's a fact of life that even the most joyous occasions are tinged with sadness. So while we sit in our new living room looking out the huge windows onto the most beautiful meadow and forest beyond, there is a subdued quality to the experience. We do feel lucky to have this incredible place. But no matter how good it feels to be there, there's always the awareness that we needed this house for Charley because he has DMD and DMD is aggressive and progressive and horrid. While we did a great job of making the house subtly fully accessible, DMD is still very much there with us all the time. A visitor might not notice that the doorways are all extra wide or that the shower in the boys' bathroom has no threshold or that the light switches are all lower than they would be in a typical house. But for us, those details are all stark reminders that one day our son may need those accommodations because he has DMD and then the reality of DMD is on our minds again.

It is highly encouraging that we are moving so quickly to develop new treatments. With our new program Pilot Trials Now, we are pushing forward FDA approved drugs that are ready to be tried in clinical trials for DMD boys. The first trial will begin this year at Johns Hopkins/Kennedy Krieger institute with sildenafil, a Pfizer drug that was developed for hypertension and angina. Animal testing indicates that sildenafil may significantly help the hearts of boys with DMD, so we are hopeful and excited to get this trial off the ground. Clinical trials are not cheap, so we are grateful to have support for this one from the Nash Avery Foundation, Cure Duchenne, and Hope for Javier -- three other foundations run by parents of children with DMD.

Our other research collaborations are moving along too, and we remain confident that a treatment will be developed in time to help Charley. If the next five years are as productive and fruitful as the last five years, we will be in VERY good shape. Of course we need your help to make that happen, so please stick with us as we continue to push forward with every fiber of our being.

Thank god for school!

2009-09-09T14:23:47Z

This may not sound right but I have to say it anyway -- thank god the kids are back in school!!!!! Summer was full and fun but those last two weeks were trying, I must admit. Now that Maisy has started to pipe up and add her two cents into the sibling dynamic, all three of the kids can really get on each other's nerves!

I shouldn't let that overshadow the fantastic eight weeks of summer. Charley spent every day at Eisner Day Camp, where he is pleased to be the oldest and -- in his opinion -- coolest kid in the camp. Charley's older brother Sam got to spread his wings a little at sleepaway camp in Northern Berkshire county. Although it's sad to know that Charley won't join him there, we were relieved to give Sam his much-needed space.

In mid-August, we were lucky to have the best weather of the entire summer for our one-week vacation at a friend's house in the Hamptons. All we did was lounge by the pool all day long. Ironically Charley was the antsy one, constantly bugging us to play tennis, "volley-balloon," and card games.

On the foundation front, we spent much of the summer working with Marie Payton, our Clinical Consultant, to map out a plan for implementing pilot trials for FDA-approved drugs. We are excited to have a real roadmap for moving forward. Funds permitting, we aim to have at least one trial start this year and one in the first quarter of 2010. Other collaborations are moving forward on track, including the work at AVI Biopharma and Dr. Jim Ervasti's research at the University of Minnesota. Because these and other novel therapies are so close, it is essential that we identify FDA-approved drugs that can help DMD kids stay strong until new breakthrough treatments are available.

One strategy for coming up with the funding for these exciting projects was to reach out to donors who have not been active for over a year. So far the response has been encouraging. People who helped us get off to a strong start are now coming through once again to help us push the ball even farther down the field. Thank you to everyone who answered our plea for help this summer!

Please get involved this fall --

come to our Spa Day on Sept 25th (bring a friend on the half-price companion ticket!!)

watch Benjy and his old buddies play football in the Harrison-Rye reunion game

do your holiday shopping at Live and Let's Give the weekend of Nov 6-8 in Pittsfield

make a donation in someone's honor...we'll send a cute card!

This fall marks many new beginnings: the Jewish new year, Charley's birthday, we move into our new house, and the initiation of Pilot Trials Now. I have a good feeling about all this...

Charley Gets a Boost of Electricity

2009-06-12T16:28:11Z

We've definitely entered a new phase in terms of Charley's awareness of his disease. We are transitioning out of the "honeymoon phase," when the limitations of DMD haven't really set in. Until recently, we could kinda sorta blend in with the crowd. Our evening routine has always been tough: In addition to the usual bedtime routines Charley has to take 14 pills with a powdered mixture and then the "yucky drink", a soy-based food supplement from China that smells and tastes pretty much like sewage. We also have to stretch him for 15 minutes every evening. And in the mornings before school -- amidst the mayhem of frozen waffles and unruly bedheads and socks that don't match -- we throw in 12 pills plus a morning dose (2 oz) of the yucky drink. So while these rituals that start and end the day have always been intense, in between we have been lucky enough to function almost like a typical family. Charley is mainstreamed at school, and for the most part he enjoys the same activities as other kids. He has to limit his sodium and sugar intake and he has to rest when he gets tired, but other than that he has been keeping up great.

Over the past few months, however, Charley and his brother have been developing more of an awareness of Charley’s limitations. Just the other day, they were playing with a soccer ball in our backyard. Sam had to retrieve the ball for the 10th time, and in frustration he yelled “I hate this!” Thankfully he quickly clarified his outburst. “I don’t hate YOU, Charley,” he explained. “I love you. I just hate your condition.” It took a while for Sam to understand his feelings of anger, and in fact it is still a “process.” Sometimes his anger is directed at Charley himself, and that is really hard for everyone.

Charley has always been less of an intense personality than his older brother Sam. If he is angry about having DMD, that anger has yet to surface. He does express sadness, and that is very hard for me to bear. This winter he was devastated that he could not ski. One Saturday, I made the idiotic mistake of bringing him with me to the ski shop to buy a new pair of gloves, as we were on our way to go sledding and he had lost his umpteenth glove of the season. We ran into a family we know, and all three kids were booted up, clearly on their way to the local ski mountain. Then a friendly young salesman said, “Hey buddy, are you ready to hit the slopes?” Charley just stared at him, and when we left the store he burst into tears.

We adapt with the times, though, and as soon as the weather improved we bought Charley a bright red electric Razor scooter so he can keep up on the bike trails. Charley’s new ride has brought back the smiles, at least for now. On a recent trip to the Franklin Park Zoo, he had more fun zooming around the crowded walkways than he did looking at the animals. The highlight of this outing for Charley was practically taking out three toddlers as he zipped past them at top speed. The fact that scooters are not allowed in the park – only he was allowed -- made it all the more exciting.

I’ve got lots of adventures planned for this summer…elderly ladies and toddlers beware…Charley is on the loose!

2009-03-10T01:50:17Z

Two colorful packets arrived in the mail yesterday, one for Charley and one for his older brother Sam. Sammy's envelope contained a slick 2-pocket folder stuffed with colorful inserts -- promotional meterials from a summer sleepaway camp we're considering for him. Sam ripped through the pages, shouting "They have windsurfing! They have a zip line! I am definitely going there!!"

Charley's envelope was also a glossy folder with colorful inserts, but his came from Mass General Hospital; it was an information packet for new patients. The hospital sent it to us in anticipation of our upcoming appointment with a pediatric endocrinologist. Chronic steroid treatment can stunt growth, and Charley hasn't grown in over a year so are considering treating him with a daily injection of human growth hormone. His growth has stalled so much that he is by far the smallest kid in the class and he shares a shoe size with his four-year-old sister Maisy. Much more alarming as far as Charley is concerned -- he can't go on any of the rides he likes best at amusement parks because he never meets the height requirement.

As the boys grow older, the reality of Charley's existence is hitting me in the gut more often and with considerably more force. After Charley got into bed last night I sat down with Sam to view the camp's promotional DVD. Within minutes, he was 100% sold. All it took was a couple of video clips of kids waterskiing, spinning the pottery wheel, roasting marshmallows and screaming "I love camp!"

When the video wound down, Sam looked at me and asked "Mom, why are you crying?" Luckily it was easy to come back with "I'm gonna miss you so much." That reply was true, but the tears were laden with much more than wistful thoughts about how quickly our kids grow and leave us.

I feel grateful that we can give Sam the opportunity to go to a posh sleepaway camp where he can get away, enjoy the activities he loves, and make new friends. But if I'm being brutally honest, I'm also heartbroken that Charley will not have the chance to enjoy that experience. And I am stressed about finding something he can do that will keep him occupied and happy all summer.

Speaking of occupied -- and here I will break into the good news -- we are now extremely busy making plans to move forward with our research that has resulted in promising findings. To begin with, Marie Payton, our new Senior Clinical Consultant, is reviewing FDA-approved drugs and some nutritional supplements that show promise as a treatment for DMD. She is working with Dr. George Vella and a pharmacologist consultant to determine which of these treatments are ready for human clinical trials. Marie will outline a clear strategic plan for getting trials up and running. Our goal is to generate trial-based evidence that will help doctors determine which existing drugs should be prescribed for DMD boys to help them maintain strength until new therapies are developed.

That day is not very far off into the future. In fact, several new therapies -- such as a drug called Ataluren and a treatment called exon skipping -- are already in clinical trials. In addition, several biotech companies and scientists we are funding are on target to begin clinical trials of exciting new therapies within the next 2-5 years. This is not a pipedream. This is not basic science that may one day in the far off future lead to an exciting discovery. Every project we support has a clear scientific plan with a budget and timeline. The question that guides us is always "When will this be ready for clinical trials?" Of course science is somewhat unpredictable, and along the way plans can change. However we work with our researchers to ensure that they keep their eyes on the prize. And of course we all know that the ultimate prize is an effective treatment for all boys with DMD.

If you were not able to donate to our 2007 annual appeal, please consider making a donation now on our "Donate Now" webpage. Our 2007 appeal was down 44%, so we have a lot of ground to make up. Preparing for and implementing clinical trials is a very expensive prospect. Thank you for your support. Please stay tuned for more news of our progress.

Welcome Cheryl!

2009-02-08T13:45:00Z

When I look back to review previous blogs, I realize how huge the chasm is between what goes on in our lives and what gets conveyed to our friends and supporters. I'm averaging a blog entry every three months, which would seem to indicate that there isn't much news to report. The truth is that our days are so jam-packed that exhaustion and brain-overload is what prevents me from writing more frequent updates. I consider it a positive sign that we are so busy. We are constantly in touch with scientists who are moving their research forward. We are working with the Darius Goes West crew to raise funds for our fight all over the country. We are collaborating with other foundations to leverage our support to have the biggest possible impact. Over the past four years, the work we do has dramatically intensified. It's a constant battle to do as much as possible without getting swallowed up whole by this intense fight.

I am very excited to have help in the form of Cheryl Rosen, our new Director of Development and Operations. Cheryl will oversee our fundraising efforts and ensure that our day-to-day operations run more smoothly. With the addition of Cheryl to our team, we are increasing our capacity to support everyone out there who wants to organize a fundraiser or get involved in some way. In this difficult economic environment, so many of our supporters have had to cut back on expenses, including charitable giving. To compensate for the fact that donations are smaller, we need to reach out to more people. That kind of effort is very difficult -- if not impossible -- with no staff. Cheryl has raised money as a volunteer for various New York- based organizations, including Horace Mann School and the Ittelson Center. Her professional background as a consultant and analyst will inform her efforts as she develops a strategic fundraising plan for Charley's Fund. Please feel free to contact Cheryl at carosen@charleysfund.org to say hello. She is enjoying getting to know our supporters!

We're looking forward to a family vacation in Florida next week. During this icy and snowy winter, we've been living in a rental house perched at the top of a precarious driveway. Getting down the driveway to meet the bus in the mornings has been an adventure in itself! It's been a long winter so far, made longer by the fact that Charley is not skiing this year. We are trying to preserve as much muscle mass as possible, and excessive exercise can work against this. While his older brother Sam takes snowboarding lessons, Charley's been great about finding alternate activities. But it breaks our hearts to hold him back from a family sport we all love.

We can't wait for some sunshine over President's Week. We'll hit the beach and the pool and the burgers. Hopefully I'll even be refreshed enough to write a post-vacation blog, including some photos.

Charley's 8th Birthday

2008-11-10T14:48:47Z

Charley's birthday is tomorrow, always a day of extreme mixed emotions for me. No mixed emotions for Charley, thank God...he is 100% thrilled. Charley can't believe his luck that there is no school on his birthday due to Veteran's Day. He has already planned his entire day, which will begin with waking up at the crack of dawn to open presents. He then plans to play Mario Brothers Kart on the Wii ALL DAY LONG, stopping only for a lunch break at his favorite eatery, the Great Barrington Bagel Store. Evening will bring cake and more presents, including a first for the Seckler family: Charley's older brother Sam actually spent his own money to buy a gift that he picked out especially for Charley.

To see Charley in pure heaven does fill my heart. (Thank goodness all it takes is a great bagel and some Wii to make him happy!) But the pronounced passage of time marked by his birthday is frightening. As Charley gets older, we are facing more difficult situations in daily life. Due to chronic steroid use, Charley's bone density is very low. This year he will not be skiing, because a broken leg is a risk we cannot afford to take. Breaking that news to Charley was not easy, as he is a huge sports-lover and skiing is his favorite activity. The daily steroid treatment has also stunted Charley's growth, and he is grappling with the emotional effects of being the size of an average five-year-old. It's tough for him to have the same shoe size as his four-year-old sister, while his older brother is growing and developing normally. In and of themselves, these daily emotional struggles are rough but bearable. It is what they represent that frightens me...the inevitable progression and heartbreak of DMD.

DMD's aggressive timeline is what keeps us working day and night to implement our well thought-out strategy for developing a therapy for the disease. We are making unprecedented progress against Duchenne, and for the first time in history, the hope for a treatment is very real. We are thoroughly determined to reach our goal and cautiously optimistic that we will get there in time to help Charley and so many other boys we have met over the past four years, as well as thousands more we have not met.

The end of the year is a big fundraising push for us, and this year we have some effective new ways to bring new supporters into the fold. Later this month we will release a short video introducing viewers to our kooky little boy and our fight to save his life. Now instead of telling people about Charley's Fund in your own words, you'll be able to send a link to this video, which shows Charley in all his quirkiness and explains how we are making headway against the disease that threatens his life. We'll send you an email when the video is ready.

In December we are sending out our brand new Gift Catalog. The catalog includes the classic Charley's Fund merchandise (ie, the original Good Charma Believe Bracelet) along with some fabulous new items. For many of us, asking friends to shop from a fantastic catalog is a lot easier than asking friends to donate money to a cause. It is our hope that you will share the catalog with friends, and encourage them to purchase holiday gifts that support Charley's Fund.

Finally, our annual appeal and newsletter will be mailed out to all of our supporters later this month. Please do what you can to support us this year. I know it is a difficult financial time for almost all of us. Please keep in mind that we are different from many other charitable causes in that we are on a very intense timeline. We cannot afford to experience a dip in fundraising and then just make it up in years to come. Too many young lives hang in the balance.

To save a stamp, make your annual gift now online.

Thank you!!

Annual DMD conference

2008-07-21T17:51:33Z

Our vacation week in the Hamptons could not have been more glorious. For the first time in a very long time, the weather was our best friend...sunny, clear blue skies with not a hint of humidity. For some reason, beach memories are extremely powerful for me. For those of you who have seen the movie Darius Goes West, you know I get emotional when I reminisce about a trip to Florida several years ago, specifically when I describe Benjy tossing Charley and Sammy around in the ocean. I'm not sure what it is about the sea...maybe it's a reminder that whoever created DMD also has the power to create such astounding beauty. Or maybe it's my childhood memories of Atlantic beach, jumping the waves with sisters and friends until dusk, and the dread that Charley's wave-jumping time is limited. I think the sheer power and expanse of the ocean is humbling and awe-inspiring...makes me think about our place in the world, that we're all pretty small in the grand scheme of things. At the same time, watching the waves crash in reminds me that our ability to achieve is limitless. We've sailed across the ocean, explored the bottom of the ocean, even flown over the ocean...surely we can beat Duchenne muscular dystrophy.

After dropping the kids with their grandparents and the puppy with a friend, Benjy and I headed down to Philadelphia for the most comprehensive annual DMD conference in the world. We participated in two intense days of scientific presentations as well as "break-out sessions" covering day-to-day issues that DMD families have to face, such as physcial therapy and social isolation.

I have been to this DMD conference four times. My first time, in 2005, I remember hearing anxious parents talk about how the scientists seem to say the same thing year after year. That scared me -- talking with experienced DMD parents who felt like nothing was changing. Thank God I do not have that feeling now. This year's conference was markedly different from past meetings. For starters, there was a panel of speakers from the biotechnology industry discussing the different therapies they are developing. Two of the speakers discussed human clinical trials that are underway, and others presented their plans to begin trials in the near future. The excitement over PTC-124, the first DMD drug to enter human clinical trials, was palpable. The company that is developing this medicine just struck a licensing deal with Genzyme, a major biotechnology company in Cambridge, MA. Finally, the biotechnology industry is paying attention to DMD, and the money you have generously donated is being leveraged by big investments from well-known industry players.

In closing, I feel the urge to come full circle with the beach metaphor...something about how the waves have been building, and now they are starting to crash into shore. It's in my mind somewhere, but as I learn more about this new blogging genre, I realize that it's better to write more often and less perfectly than to wait three months to produce an elegant essay laced with well-crafted metaphors.

One thing I will continue to do, no matter what, is to end on a high note. So here it is: Charley is still wave-jumping. With a humongous smile on his face, he readied himself for the break, bending his knees in anticipation of the onslaught. Time and time again he cleared the incoming wave with a small but real two-footed jump. And when he got tired, he decided that it is just as fun to swim under the waves as it is to jump over them. It's amazing that he can still jump, and just as amazing that he can adapt to what life sends his way without a hint of frustration or anger.

With your continued support, we will keep him going until we reach our goal.

Stella Comes Home

2008-06-30T14:49:27Z

Just when I think life can't get any busier...ok, let me just spit it out, we got a puppy!!!!!

Almost everyone I know looks at me like I am crazy, but I feel so fantastic about our new arrival. Charley and Maisy absolutely love her, and Sammy is finally getting used to having a dog around. Yes, I am busier than I ever thought humanly possible, but I have been on more walks in the past three weeks than I have been on in the last three years. And the smiles Stella has brought to Charley's face are irreplaceable. It is definitely extremely difficult to balance our drive toward a treatment for DMD with taking the time to enjoy what we have now. Every minute that I am walking the dog or taking the kids for a swim (the proverbial "smelling the flowers"), there is definitely a shadow of guilt that I am not cultivating donors or checking in on scientists or updating the website. How can I not do every single thing possible to make sure we reach our goal in time to help Charley and so many other little boys who have such a real chance at a better future?

One answer to this dilemma is to get some help, and thank goodness we can do that. Friends are constantly calling in with fundraising ideas and hands-on help. This summer Charley's Fund will host the bake sale at Egremont on Parade (July 27 at French Park in Egremont). We will also benefit from a very special concert featuring principal musicians of the NY Philhamronic on August 11 at a historic mansion in Lenox, MA. Both of these events are being handled by friends who stepped forward to offer their assistance. Also thanks the help of several close friends, we are developing a fantastic Charley's Fund gift catalog that will feature hip new merchandise...it'll be ready in time for the holiday season.

Charley is at day camp, in the loving and supportive hands of the Camp Eisner staff. Thanks to a daily regimen of supplements and stretching, he is hanging on very well while we aggressively push forward toward a treatment for DMD. We've begun to sort through our investments in the medical research, bringing a close to projects that do not seem to hold promise at this time and honing in on the therapies in development that are showing positive results in preclinical testing. We are in the process of updating the research page of our website so all of our supporters can keep track of our progress. I will let you know as soon as that is done.

Happy July 4 to everyone out there. May this Independence Day mark another year of independence for our country, and also for Charley and all of his DMD "brothers" who are holding on tight until we reach our goal.

Back from Israel!

2008-04-04T10:26:04Z

We’ve just arrived home from a phenomenal two weeks in Israel. Charley’s cousin Xander became a bar-mitzvah at the Western Wall. His generous parents invited us along for a fabulous tour of Jerusalem and its environs. Charley’s favorite highlight was floating around in the Dead Sea and covering himself in its legendary therapeutic mud. A dare-devil jeep ride through the Golan Heights and our visit to a secret underground bullet factory were close seconds. These richly historic adventures were balanced by less intellectual endeavors, like taste-testing falafel from every stand we encountered and horsing around in the back of the tour bus with a gaggle of siblings and cousins.

Throughout the trip, that cruel DMD dichotomy was ever-present. On the one hand, there was the sadness and fear each time we arrived at a site requiring physical agility. How could we ever again experience this camel ride or this cave crawl? If we come back in two years will Charley be able to get around at all? While cousins and friends happily discussed which sites they will see on their next visit, we were left wondering if we could ever again navigate the narrow paths and uncountable stone steps.

On the other hand, I doubt anyone on earth feels as deep a sense of joy and wonder and gratefulness that I felt almost every minute of the trip. Certain mundane moments stand out in my mind as almost impossibly beautiful:

standing with the kids on the street in Tel Aviv devouring a fresh mound of sweet strawberries that we had just purchased (and bargained for) at the Carmel market

tears streaming down our faces from laughing so hard when Maisy transformed “Boker Tov” (Hebrew for Good Morning) into “Booger Tov”

hooting and clapping during the apres-dinner entertainment at a Moroccan restaurant, which was an elaborate bellydancing show performed by all the younger cousins

Thanks to my incredible family who sponsored this trip, we came home with a brainful of beautiful memories that will forever brighten our days.

The two weeks away provided a crucial mental break for Benjy and me. Learning about the complicated history of the Middle East and haggling over shekels were rejuvenating diversions from our usual work. We are now back in the saddle, raising money and expediting research.

The vacation came at a crucial time, as we now need all the energy we can muster to raise the money we need during these challenging economic times. The uncertainty of the economy has caused many of our donors to be extra cautious this year, cutting back on expenses that are not absolutely necessary. It is our job to convince people that keeping the medical research on the fast track is a necessary expense that we cannot live without. In fact our own son Charley and thousands of other little boys literally cannot live without it.

Thankfully, several supporters have recently stepped up to the plate in a very big way to help us during these trying times. This week we received a $100,000 pledge from a donor who learned about us through the film Darius Goes West. Another donor presented us with a challenge grant. She will match up to $100,000 raised by May 11 -- Mother’s Day – in honor of the tireless efforts of all moms of DMD boys. Please consider making a donation toward this goal. To be presented with $200,000 on May 11th would be the most incredible gift I could imagine this year.

The fact that we need money is actually a good sign. All of the research we fund is paid in increments based on milestone achievement. We do not pay out our grants and investments in a single lump sum. Instead we pay out funds when we receive a satisfactory progress report from the scientist doing the research. This enables us to cease funding a project if a researcher hits an insurmountable roadblock.

Upon our return we faced news of milestones reached by several of our key researchers, including AVI Biopharma, Dr. Dean Burkin of University of Nevada at Reno, and Dr. James Ervasti at the University of Minnesota. That brings me to the positive note on which I must always end, a writing technique that has mushroomed into a full-fledged superstition. Happy spring, and please tell everyone you know about our Mother’s Day deadline to maximize the $100,000 matching grant!

2008-01-10T02:34:14Z

Extraneous and repetitive e-mails annoy everyone, I know. But there's one e-mail that keeps popping into my box every few minutes, and I love it! "You've Got Cash" is the subject, and it is a notification from Paypal that a customer has bought a Darius Goes West dvd (or two or twenty).

While I sit at my desk working on upcoming events, preparing the 2008 Charley's Fund budget, and tracking down the painter who is supposed to be finishing our new downstairs bathroom (just a sampling of my daily activities), every few minutes I hear the "blip-bleep" that indicates a new DGW order. I recognize lots of the names as friends and supporters who have been helping Charley’s Fund since we started this fight against DMD. But I am really struck by the number of people I do not know. Darius and his friends have catapulted our cause into the public eye. Customers from Iowa, Hawaii, Canada, even Australia are purchasing the film.

Although the documentary is a wrap, the 12 crew members are continuing their involvement in our fight for a cure. Know About It!, the program that brings the film and related lesson plans to middle and high schools, is up and running. If you are a student, teacher, or parent, check out www.DGWKnowAboutIt.com to learn more about how to get this program into your school. Crew members are speaking at conferences around the country. Plans are in the works for Darius to record a hip-hop album with some favorite rappers. I literally could not dream of a better gift for Charley’s Fund -- 12 young, handsome, hip guys volunteering to travel from state to state, rallying people all over the country to help raise money for our fight against Duchenne muscular dystrophy. Thank you, DGW crew, for your tireless efforts. We are so proud that you will be honored on May 15 at the Matt’s Promise gala at New York City’s Cipriani!!

Ranging in age from 18-29 years old, the Darius crew seems very young to be so determined to help. But we have even younger supporters who are making big sacrifices to push us closer to a treatment for DMD. Charley’s first cousin Solomon Seckler, age 13, recently generated $30,000 in donations to Charley’s Fund by forfeiting his bar-mitzvah gifts. Even when pressed by people who really wanted to buy him something (like his grandmother and Benjy and me), the only request Solomon made was “a check to Charley’s Fund.” I like to think of myself as having been a good kid, but I still can’t imagine saying no thank you to gifts from hundreds of people in honor of a major milestone that I worked really hard to achieve. Solomon even handed over cash that people gave him on his big day! Thanks to Solomon, whose bar-mtizvah theme was Extreme Sports, we now have the “Extreme Mitzvah” version of the Charley’s Fund t-shirt. If you are 13 years old, perform a major mitzvah for Charley’s Fund and we’ll send you this ultra-cool jersey-style t-shirt designed by Solomon.

The $30,000 Solomon raised will be used to finance research being conducted by CombinatoRx, the biotech company in Cambridge, Massachusetts that is working on a DMD therapy. Next week I am headed to the lab in Cambridge to tour the facility and get an update on the cutting-edge research that this company is doing to develop a treatment for Charley and thousands of other DMD boys. Also in January, we make our second payment to AVI Biopharma, the company in Portland, OR that is preparing for a human clinical trial of its exon-skipping therapy. If this therapy works the way we hope it will, it should transform DMD into a much milder form of the disease called Becker muscular dystrophy. People with Becker MD can have mild symptoms, and some are even asymptomatic! We are very pleased that so far the scientists at AVI Biopharma are sticking to the timeline they outlined in their agreement with Charley’s Fund. Speaking of exon-skipping, another company we have funded called Prosensa was recently covered in the New York Times and other major newspapers for moving ahead with their clinical trial in the Netherlands. Prosensa’s scientists have shown that they can produce dystrophin in a single muscle in a DMD boy. They are getting ready to test delivery of the therapy to all the body’s muscles via under-the-skin injection. Six boys will participate in the trial. This is truly historic, and we are waiting with bated breath for the results.

I hope you now know that when I don’t write in the blog for months at a time, that doesn’t mean nothing is happening. To the contrary, so much is happening that I don’t make the time to update you. My new year’s resolution is to update this blog at least every month (also to get in shape but I’m less optimistic about that one). Please hold me to this by e-mailing me with lots of questions about the research, our fundraising efforts, and Charley. By the way, for those of you following the “hair saga,” he is now sporting a way-out 1970s afro. Depending on how you look at it, this could qualify as ending on a positive note. For me, the positive note is that tomorrow he has an appointment with the barber!

From Washington, DC to Western Australia

2007-10-03T16:45:21Z

Anyone who hung out with Charley this summer knows he has a new look. He acquired some key accessories to look “cool,�? including mirrored sunglasses, the silver Believe necklace with black suede cord, and navy crocs with strategically placed jibitz (he even has to accessorize his accessories).

Fashion is not the only arena in which Charley is expressing his independent spirit. This summer he took the training wheels off his bike and learned how to ride a two wheeler. He took a couple of ice skating lessons in Sun Valley. The skating instructor commented that he was just as good as any boy his age because although his muscles are not as strong, his determination pulled through.

I am deeply grateful that Charley is so strong-willed. But sadly, sheer determination is not enough to conquer the notoriously aggressive Duchenne Muscular Dystrophy. I pray that his will and determination holds out long enough for the science to come through. Thankfully, the scientists are speeding up. In the three years since Charley’s diagnosis, major strides toward a treatment have been made.

The list of potential therapies with a real shot at making a difference in DMD is growing. We are currently funding 12 projects that have a shot at helping this generation of boys who won’t hold out much longer without significant help from cutting-edge medical research. Some highlights:

We have just contracted with Biofocus, a UK-based company, to screen thousands of FDA-approved drugs to see which ones can increase the body’s production of utrophin, a naturally occurring protein that can compensate for lack of dystrophin (the missing protein in DMD boys).

Dr. Steve Wilton at the University of Western Australia is investigating a “cocktail approach�? to exon skipping -- currently the lead horse in the race for a treatment. The exon skipping therapy varies for each subset of DMD boys, depending on which genetic mutation the boy has. Dr. Wilton is skipping multiple exons at once, which will expedite the process so more boys can be treated more quickly.

Dr. Kanneboyina Nagaraju at Children’s National Medical Center in Washington, DC is testing four drugs that could theoretically help boys with DMD. After administering the drugs to mice with muscular dystrophy for a six-month period, he will analyze the data to determine if any of the four do indeed mitigate the muscle deterioration brought on by DMD. If the data are positive, the next step could be a human clinical trial in Duchenne boys.

To get one of these products to the clinic may seem like a miracle, and it is. But it happens. I recently received a letter from a donor living with multiple myeloma, a deadly form of cancer. Miraculously, she has far exceeded doctors’ predictions thanks to several experimental treatments that have extended her life and given her a quality of life she was not expected to have. Her letter is living proof that although we are working to bring about a miracle, it is really and truly doable. Thank you for sticking with us as we do everything we can to save Charley, Aidan, Javier, Dylan, Cooper, and so many other boys.

Moving Faster

2007-07-04T13:45:33Z

Somewhat ironically, I am spending this summer trying as hard as I can to blend in with the crowd. After years of aiming to distinguish myself, I am now struggling to be the regular mom of a typical family. As long as we can keep up with everyone else, Charley must be holding on. At camp pickup each afternoon, I scrutinize the other moms’ facial expressions to see if they notice anything different about Charley. I pray that when I pick him up at a playdate the host mom will say, “He wasn’t tired at all; he seemed great; it’s hard to believe there’s anything wrong.�? I live for these comments. They provide affirmation that we can make it through at least one more summer as just another family with average kids.

We are learning to adapt so we can extend Charley’s “blend in�? time. I provide a piggyback ride to the car after camp when he is too tired for the uphill walk. For our weekend activity, we choose fishing or tetherball instead of hiking or soccer. Although Benjy and I both spent our best summers at sleepaway camp, and always thought our kids would do the same, we’ve started downplaying sleepover camp as something “everyone�? does when they turn nine years old.

In the meantime, we are furiously racing to develop a treatment for DMD before this relatively mild part of the disease progression comes to an end. We all know that money is the main ingredient needed to make the research move faster; however, we have also learned that focus is a vital missing element. There are many great scientists out there working on treatments for DMD, but all of them are busy doing other projects at the same time. It takes time to get a phone call back, to negotiate a contract, or to get a progress report. When we added that to the fact that Benjy -- who interfaces with scientists on behalf of Charley’s Fund -- is also holding down a job as a radiologist, our progress just wasn’t fast enough.

On the first day of 2007, we ramped up our speed and efficiency with the hiring of Dr. George Vella, our new Director of Research and Strategic Development. Dr. Vella has a PhD in bio-organic chemistry and 20+ years of experience in the pharmaceutical and biotechnology industries. Thanks to the generosity of Charley’s Angels Tom and Angie Wicka, who are underwriting half of Dr. Vella’s salary, we were able to lure this terrific candidate from a senior executive position at a promising biotech company. Remarkably, Dr. Vella is the only PhD-level scientist in the world whose sole job is to expedite a cure for Duchenne Muscular Dystrophy.

Since Dr. Vella joined Charley’s Fund, we have initiated four new research projects. Five additional proposals are in the works. These programs represent a varied portfolio of therapeutic approaches to DMD. Some of our researchers are testing drugs that are already FDA-approved for different illnesses. Others are developing new technologies that represent a paradigm shift in the way many of the world’s most notorious diseases are treated. Thanks to Dr. Vella, new projects are initiated much more quickly than before. Our scientists are held accountable and kept on track. “Being busy�? is never an excuse. As we have said all along, we will not allow lack of money or focus to stand in the way of a treatment for Charley and so many other boys like him.

If you’ve read my other blog entries, you are waiting for me to end on a positive note. So I’ll tell you some really, really good news. We have a new Charley’s Angel named Theo Gund.* She is the reason that Darius Goes West will be shown in schools across the country, motivating young people to get out there and make a difference. She is also the reason that our whole family is flying out to Sun Valley, Idaho, next month. We’ll attend two benefit screenings of Darius Goes West at the Opera House on August 18th and 19th, hosted by Theo. We’ll also enjoy a couple of days in the gorgeous Rockies. Another little boy with DMD named Cooper will be there. We are looking forward to introducing Charley to Cooper, so our little warrior can know that he is not fighting this beast alone. He is joined by a force of at least 50,000 kids around the globe -- and all of us who love these children and will do anything in our power to make sure they defeat the enemy. Thank you for joining forces with us to make sure DMD meets its end very soon.

*Donors become Charley’s Angels with a minimum gift of $50,000.

Summer's Almost Here and Hopefully, So Are Some FDA Approved Drugs

2007-05-30T23:10:26Z

When I view my six-year-old child executing his morning and evening routine through the eyes of a visitor, it is truly an amazing sight. Charley downs 13 pills every morning and 11 pills every night. In the evening, he chases down the capsules with a mixture of seltzer and glutamine, a powdered muscle-enhancing supplement. When guests are over, Charley inevitably becomes the evening's entertainment as he swallows three pills in one gulp, or makes all 13 pills disappear in 20 seconds, or vacuums up the muscle drink through 15 straws at a time.

We're lucky that he is so good-natured about taking all these pills and powders. It would be very difficult to force the issue with a resistant child, especially knowing that only one of the 24 pills is actually proven to be effective by empirical evidence. The others are all herbal supplements and one heart medication that may or may not help slow the degeneration of muscle in DMD.

Despite that fact that several FDA-approved drugs have shown promise in mice with muscular dystrophy, there is still not one drug -- other than steroids -- that is being prescribed for kids with DMD to slow the muscle destruction. At Charley’s Fund, one of our main priorities is to identify FDA-approved drugs that have shown promise as a treatment for DMD and to follow up on every one of these leads. While scientists work their way toward a cure, these drugs could buy time for Charley and all the other boys who have no option right now but to suffer the significant side effects of chronic steroid use. The more muscle mass we can preserve, the better off all young boys with DMD will be when a cure or treatment is eventually developed.

In line with that goal, we recently signed on to support a one-year research project being conducted by Dr. Stanley Froehner at the University of Washington. Dr. Froehner is testing phosphodiesterase inhibitors as potential drugs to treat DMD. PDE inhibitors may reduce inflammation, improve blood flow in the muscle, upregulate utrophin and inhibit myostatin, a negative regulator of muscle mass. We know that PDE inhibitors are safe, because they are approved to treat other conditions (for example, sexual impotence!!).

We are also taking advantage of the World Wide Web in our search for pre-approved drugs that may help boys with DMD. We recently posted a challenge on Innocentive, a virtual community of scientists from all over the world. The challenge asked scientists to suggest a drug that may be helpful for DMD boys with a rationale explaining why. One particularly interesting submission suggested resveratrol, a supplement derived from grape skins that may work as an antioxidant, NFkB inhibitor, and antifibrotic. We are collaborating with a scientist to test resveratrol in mice with muscular dystrophy and, ultimately, would like to see a clinical trial in children with DMD.

Losartan, UDCA, sulfasalizine and HCT 1026 are some of the other FDA-approved medications that are “on deck�? to be tested. We know these drugs are safe because they are used to treat other illnesses. Hopefully at least one of them will prove able to keep Charley, Aidan, Javier, and other DMD boys on their feet for some crucial extra time while exon skipping and gene replacement therapies are developed. Our research page is being revamped to reflect the studies we are supporting. Please keep an eye out for this new and improved page. We are excited to update you on all of the science that is moving forward.

On a more personal note, Memorial Day weekend was glorious. For the first time in recent memory, we had real summer weather to kick off the season. While I was excited to spend the day with the kids at the pool, I was worried that Charley wouldn’t be able to flip off the side like he could last year. Annual events can be painful reminders that Charley’s condition is not stable, but deteriorating. On Saturday I waited with bated breath as he stood on the side shouting “Mommy, watch this!�? I wanted to close my eyes, but I dutifully watched as Charley readied himself for a front flip. He jumped off the side of the pool, executed an almost-full rotation, and landed flat on his back into the water with a loud SMACK. It wasn’t the same full rotation as last year, but he was thrilled with himself. Laughing all the way back to the side of the pool, he pulled himself up and got ready for flip number two.

And, somehow, I didn’t focus on that little bit of turn he couldn’t complete like he did last year. I soaked up the sun, let him eat ice cream AND a cookie, and had a beautiful weekend.