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.

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.

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!

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!

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.

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.

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.

Charley was in heaven, making his own “bowls�? by skiing all the way to the side of the trail where it slopes upward, then down to the other side and back up again as fast as he could. When he turned to me with a huge smile and asked, “Mommy, did you like the way I did that?�? my heart leaped into my throat.

It takes all the willpower in the world to freeze time in that moment, and resist the urge to look ahead. Every time I saw him doing those quick knee beds and twisting his torso side to side to try to look like a racer, I forced myself to focus on the beauty of the day and push thoughts of the future out of my mind.

Self-imposing a small dose of denial isn’t the only hard part about taking Charley to do the activities that so many people do without a second thought. At first I wanted to take the boys snowshoeing at a local nature preserve that was having a special outing for kids. But as soon as the thought entered my mind, I erased it, knowing full well that Charley would tire half way through and then what would I do with one child who needed to be carried back to the car, and the other begging to go on?

So I resorted to Plan B, which was to stick Charley’s older brother Sammy in ski school and take Charley out on the slopes with me, where we could take it easy, I could keep a close eye on him, and he wouldn’t be fed snacks that violate his low-sodium/low-fat/low sugar diet. In an effort to preserve his energy for the skiing, I carried all of his equipment and mine, and dragged him along with my pole as we made the long schlep from the base lodge to the chairlift. I nervously had my eye on him the whole time, worried that an out of control skier might crash into him, break his leg, and render him immobile for a long time, perhaps forever.

Despite the emotional and physical toll of the day, it was truly beautiful. Charley was at his happiest. Tonight when I put him in bed, I took off my glasses to get a better kiss. Knowing that I am legally blind without corrective lenses, he asked “Mommy, can you see me?�? When I replied that I can see him when I put my face close to his, he asked, “Why, did you take contact lessons?�? Another perfect gift…one of those adorable kid comments that will keep us laughing for years as we retell it over and over to family and friends.

Then the phone rang, only to bring my final present of the day. It was Logan Smalley, director of Darius Goes West to report that his film took the two top awards at the Oxford Film Fest in Mississippi: Best Documentary and Audience Choice. As the documentary travels around the country gathering awards and an audience following, we know the crew will have a major impact on our fight for a cure.

On days like today, when I am schlepping skis and boots and poles and Charley up a slippery snowy hill to get to the chairlift, I think it’s only natural to ask myself, “Is this worth it?�? Darius and his friends remind me that yes, no matter how hard it is to get up and go, it is always worth it.

The premiere was amazing. At all three showings, audiences cried and laughed throughout the movie. We were thrilled to learn that the documentary won the Audience Award, which means that audiences liked Darius Goes West the best out of all 200+ films shown at the festival!

The crew made an impressive sight: a 300-pound teenager with a megawatt smile zooming around in his “pimped out�? wheelchair, surrounded by 11 strapping young guys in Darius Goes West t-shirts passing around Charley’s Fund brochures. Not to mention the fact that they were being shadowed by a TV crew! ABC’s Nightline will air their piece on February 16th, so be sure to stay up late that night.

Delta Airlines has signed on as the official travel sponsor of Darius Goes West. They will fly the crew to screenings around the country so they can promote the movie and our quest for a cure. Visit www.DariusGoesWest.com to learn more about the film and to see the schedule of screenings. If you know any distributors who may be interested in viewing the film, please contact me at (413) 528-5744 or info@charleysfund.org.

In other news, we are happy to report that we have hired George Vella, PhD, as our new Director of Research and Strategic Planning. George comes to Charley’s Fund with a PhD in organic chemistry, plus 20 years of experience in the pharmaceutical and biotechnology industries. He is following up on every lead to make sure that no stone goes unturned in our quest to stop or dramatically slow DMD in time to help Charley and all children with this murderous disease. We owe a huge thank you to Tom and Angie Wicka, Charley’s Angels who are generously underwriting half the costs associated with our new hire.

In his first month, George has expedited grants to Brown University, University of Minnesota, University of Washington, and Columbus Research Institute. Scientists at these institutions are conducting studies to further validate initial promising results in mice with DMD. For details on our newest research projects, visit the research page of the Charley’s Fund website, which will be updated as soon as we return from California.

The “Shop like a Diva�? event came fresh on the heels of our “Wish I Could�? auction, a terrific evening held in the Berkshires on November 30th. We debuted the beautiful new upstairs function room at Spice, a restaurant in Pittsfield, MA. Owners Larry Rosenthal and Joyce Bernstein donated the space and the delectable desserts. Local radio host Alan Chartock enlivened the evening with his motivational rhetoric as the guest auctioneer. Who else could sell two quarts of ice cream for a thousand dollars?!

Proceeds from these two fundraisers will be sent to the University of Colorado, where. Dr. Brian Tseng is conducting a study of Polaxymer 407. This compound, which is found in toothpaste (so we know it is safe), has been shown to delay the progression of DMD in a mouse model. Dr. Tseng is conducting a study to see if the compound can be developed as a therapy for use in children with the disease. Charley’s Fund teamed up with three other family foundations to underwrite the research project. Nine months from now, Dr. Tseng will provide us with a report detailing the results if his research. We will share the information with you at that time. If the news is positive, we will need more money to push the research to the next stage.

In other research news, the DMD eTank is moving full-steam ahead. The team has drafted three challenges to post on a website that attracts scientists from all around the world, www.InnoCentive.com. Visitors to InnoCentive’s website can solve challenges for a fee. We are proud to be taking advantage of this cutting-edge technology, and we are hopeful that a scientist (or scientists) out there will step forward to help us solve some of the problems that are stymieing the DMD research community.

In between the two fundraisers, Benjy and I stole away to Montego Bay, Jamaica. It was our first kid-free vacation in eight years! It was heavenly to lie on the gorgeous beach, where our biggest concern was whether to choose the pina colada or the strawberry daiquiri. Thank God for grandparents, who heroically took on Sammy, Charley, and Maisy for four days while Benjy and I recuperated from a year jam-packed with Charley’s Fund activity and geared up for 2007, which promises to be a pivotal year for all children with Duchenne Muscular Dystrophy.

Our New Year’s resolution is to continue to push as hard as we can for a treatment or cure for DMD. This of course would be the ultimate gift to our family and all families stricken by this hideous disease. In the meantime, this year for Hanukkah we took Charley and his siblings to the Build-a-Bear Workshop in Manhattan. Charley’s new friend “Dimples,�? dressed in a New England Patriots uniform complete with cleats and mini-football, has not left his side. Thank you so much for standing by us as we do everything we possibly can to keep Charley throwing that football around for many years to come.

Wishing you a very, very happy holiday, and many thanks to all of you who have given so generously this year.

Although the winter is sure to be long, the past two months were filled with enough spectacular memories to warm me on those upcoming frigid mornings. The first summer highlight was definitely the Camp Hillard World Cup Soccer Challenge. Yesterday I visited Hillard in Scarsdale New York, where I was presented with a check for Charley’s Fund in the amount of $39,700!! The Libman Family, Camp Hillard’s owners, put on a great fundraiser with terrific give-aways for the kids and awesome t-shirts. The Libmans also generously donated a free summer to raffle off, which certainly increased donations. We are very grateful to the Libmans and to the staff, campers, and families at their fabulous camp.

Other summer highlights:

Charley learned how to do a front flip off the diving board. It is truly miraculous to see him jumping and flipping. I savor every second of his mobility. I will be sure to take him to the indoor pool when the weather gets cold so he can keep swimming, which is the best possible exercise for kids with DMD.

Mel and Enid Zuckerman, owners of Canyon Ranch, became our very first Charley’s Angels with a donation of $100,000. We are blessed to have met this extremely generous and caring family. And the Zuckermans are not stopping there…they have sent a letter to friends and colleagues seeking support for Charley’s Fund. We are thrilled to have the Zuckermans as such a significant part of the Charley’s Fund family.

Charley’s Fund initiated the DMD e-Tank, a virtual think tank devoted to finding solutions to challenges facing DMD researchers. The e-Tank is made up of six impressive DMD and drug development experts. They will scour the DMD community seeking challenges, and then scout out solutions using the world wide web. We are very excited about this cutting edge approach to solving problems that are holding up the research.

I would be remiss if I made the summer seem too much like a delightful breeze. For after all, DMD is a persistent ache in our hearts. And many times it is a sharp, stabbing pain. On the way to camp last week, Charley announced, “I love soccer because I love running.�? I cried all the way home. Now that his older brother is thinking about going to sleepaway camp next summer, Charley is wondering when he will get to go. And he wants to be a football player in college. Sharing these dreams is stressful and sad for me.

One more negative thing happened just yesterday. Luckily, in retrospect, it is funny because as you know by now, I like to end on a positive note. After camp I took the boys for haircuts. When I wasn’t looking, Charley told the barber to cut off all his curls. I stepped in just in time, saving the very last bit of curl that I love so much. Charley was not pleased with my intervention, and when we got home he marched right upstairs, stole a pair of scissors from my office, and finished off the job. I won’t be posting any photos for a while until the bald spot grows back!

As I have mentioned in a past blog entry, I have a bit of a hard time with fundraising events. Even as the mood is festive and uplifting, I can’t get my mind off why we are there. This time, however, I was totally overwhelmed by the swell of support. First of all, the turnout was amazing. We sold more than 440 tickets and received a surge of donations in honor of the event from people who could not come. Friends and relatives generously underwrote the expenses so all the money raised could be spent on medical research. Thanks to all these donors, the concert brought in an impressive $62,000.

To look around the room and see our siblings, parents, nieces and nephews lugging instruments into the theater, selling t-shirts and bracelets, manning the activity booths, and cleaning up the huge mess reminded us how lucky we are to have our extraordinary family. I have often asked myself why more parents of children with DMD are not active in raising money for research that could save our children’s lives. But an afternoon like we had on May 21st reminds me that Benjy and I have only been able to do so much in such a short period of time because of the people who surround us. Not many people out there have families and friend like ours, who selflessly and continually give their time and money to help us achieve our goal.

The second event was a cocktail party for Fieldston alumni on the rooftop of Capitol Records. Several months ago, I received a phone call from an old high school friend, Diane Mayer, who had read about Charley’s Fund in our high school newsletter. Diane and her sister Jenny planned a mini-reunion where classmates and other alumni could hear more about Charley’s Fund and how they could help. Diane and Jenny did everything, from securing a really hip location to soliciting in-kind donations of food, wine, and beer. They designed the invitation and sent it to classmates and other friends. All Benjy and I had to do was show up.

We spent the first part of the evening reminiscing. It was amazing to be surrounded by friends I haven’t seen in years who came to learn about Charley’s Fund. We shared the stage that night with Logan Smalley, the director of the independent film Darius Goes West. Logan is working furiously all summer long to complete the film, which he will submit to Sundance and other festivals this fall. The movie needs financial support, national media attention, and connections that could help it get accepted to the festivals. All profits from the movie will go to Charley’s Fund. If this documentary gets the attention it deserves, it could do wonders in terms of awareness and fundraising for DMD research.

The audience at the Fieldston cocktail party seemed inspired by the Darius Goes West promotional trailer and our appeal for help. A flurry of e-mails and phone calls has ensued. So far, the event has precipitated excellent filmmaking advice and financial support for the film, an offer of pro bono PR services for Charley’s Fund, connections to several fashion editors who may be able to promote the Believe bracelet, two cocktail parties to be held by Fieldston alums, and even a caseload of free nutritional supplements for Charley!! The neurons continue to fire, and connections are being made right and left. Thank you to Diane and Jenny (and Allison Gilbert, who also helped with the planning) for putting together this amazing evening.

You know I like to end on a positive note, so click here to see some fab photos of the Fieldston party. Enjoy, and keep in touch!

Our most exciting development: our research team in the Netherlands has started a human clinical trial of their exon skipping therapy. Exon skipping modifies the way the body reads the genetic code. Boys with Duchenne who are successfully treated with exon skipping will “convert�? to Becker Muscular Dystrophy, a much milder form of the disease. If this approach works as well as it promises to, the treatment could give Charley and other young boys the gift of an entire adolescence (and maybe even more) on their feet.

In the Netherlands, scientists are far enough along to begin testing the therapy in humans. They are currently recruiting teenage boys with DMD so they can inject the exon skipping compound into the biceps muscle. This part of the trial (Phase I) will is designed to answer two questions: Is the treatment safe, and does it accomplish its intended goal in a single muscle? This phase is expected to last for four months.

Back in the United States, we are funding exon skipping research being led by Dr. Qi Lu at the Carolinas Medical Center in Charlotte, NC. Dr Lu recently showed that by intravenously injecting a Duchenne mouse with exon skipping, he can produce enough dystrophin to effect clinical improvement. Dr. Lu’s chemistry differs from the compound being used by the team in the Nertherlands. It is our hope that by forging various paths to the same ultimate solution, these two scientific leaders will make important – and different -- discoveries along the way from which everyone involved can benefit.

A third project of ours that is really moving along is the production of a new mouse model. For decades, DMD researchers have been using a mouse model called the dmx mouse. This mouse has the murine form of Duchenne Muscular Dystrophy. We are funding the creation of a new mouse model that has human genetic material. This new mouse has the same genetic mutation as a human child with Duchenne, so it will help us test potential therapies more effectively. The principal investigator in charge of the research has been a true champion of our cause. Although the long process of finalizing a written contract is still ongoing, he refuses to allow the research to be held up:

… neither Hell nor high water will slow us on our mission. They could wrap me entirely in red tape and it wouldn't make a speck of a difference. In fact, I already have the approval from the institutional review board to make the mouse. Be assured that nothing is getting in our way.

We are so grateful to Dr. Thresher for his commitment and his “get-it-done�? attitude.

In another area of DMD research, PTC Therapeutics in New Jersey is also making great headway. They recently discovered four druggable “targets�? that – if modulated effectively -- will help children with DMD. For example, since boys with DMD do not produce dystrophin, one way to help them is to increase the production of a similar protein called utrophin. PTC is developing compounds that will create a desired effect in four different areas. They plan to start preparing at least one drug for human clinical trials by April 2008.

We continue to scout out companies and academicians that have the potential to improve the prognosis of boys with DMD. In fact, we are in the final stages of contract negotiations with a European company that is developing a “small molecule drug�? designed to slow the progression of Duchenne. More news on that within the next few weeks…

Several months ago, I received my nephew's bar-mitzvah invitation in the mail. Among the usual enclosures, such as a card inviting us to a kids' nighttime party and a response envelope, was a hand written card with the following note:

Instead of gifts for my bar mitzvah I would like people to give money to a charity called Charley's Fund. Charley, my cousin, has Duchenne Muscular Dystrophy and Charley's Fund is raising money to help find a cure. This disease makes children's muscles get weaker and weaker and eventually stop working. I feel very lucky to be able to stand at the bema on my bar mitzvah day. My cousin Charley won't have the same privilege unless a cure is found. I want him to stand at the bema like me. Please help me make this happen. Thanks, Jeremy

This note precipitated an influx of donations. Many of the checks were accompanied by letters expressing pride and admiration that a 13-year-old boy would willingly forfeit what was sure to have been a bonanza of cash and electronic goodies. To date, donations in honor of Jeremy's bar-mitzvah total just over $56,400!!!! Thank you, Jeremy, for purchasing the two machines necessary for our exon skipping project in the Netherlands. You got some electronics after all, although I don't think a spectophotometer and an FPLC (an apparatus to purify and/or desalt antisense oligonucleotides) are the gadgets most kids envision getting as bar-mitzvah gifts.

At the celebration this past weekend, it was an overwhelming sensation to look out at a sea of faces and know that literally every person there has supported Charley's Fund. Many of Jeremy's classmates thoughtfully donated in increments of $18 to imbue the gift with luck (in Hebrew, the number 18 symbolizes life). Cousins and friends gave well beyond what I imagine must be their usual allotment for bar-mitzvah gifts. One couple was so moved by Jeremy's note that they gave $5,000 to become Founding Supporters in honor of this occasion.

This incredible fundraising push was truly a group effort. It took Jeremy's leadership and inspiration, the generosity and enthusiasm of his guests, and the support and guidance of his family to make it happen. Thank you to everyone who helped inculcate Jeremy into the culture of mitzvah. Together, we raised significant funds for medical research that could help Charley stand tall and proud at his own bar-mitzvah when he turns 13.

Speaking of the research, the latest update from the Netherlands is very encouraging. The Dutch research team we are funding was just awarded “orphan drug status�? by the FDA for its exon skipping therapy. “Orphan drug status�? provides legislative, economic, and regulatory incentives to our research team. This will decrease the time and money required to bring this hopeful therapy to market. We are excited that Prosensa/Leiden University Medical Center is the first research team in the world to earn this coveted designation from the FDA for exon skipping in Duchenne Muscular Dystrophy.

Here is a summary of how the research is progressing: Children with DMD are missing a protein called dystrophin. Our team of scientists has discovered that they can successfully restore dystrophin production in Charley's muscle cell culture. In the next few weeks, they will begin testing exon skipping in boys with DMD. This is the first time that exon skipping has ever been tested in humans. The compound will be injected into the biceps of several teenage boys with DMD. Researchers will monitor the subjects to make sure the treatment is safe and effective.

Once this is established, they can move on to a systemic delivery study, which will involve intravenous injections. Remember, this treatment will not work for Charley and other children with Duchenne unless it can be delivered to all of the muscles of the body. The scientists hope to take advantage of the “highway�? of blood vessels throughout the body to accomplish this difficult task. Most of the funds we are contributing to this project will be used to develop a better system for delivering the treatment to all of the body’s muscles. We receive frequent updates from our research team. We will keep you posted as the research moves forward.

A dermatologist performed a skin biopsy on Charley to get a sample of his cells. The procedure was a quick pinch on the arm, and Charley handled it well (only two minutes of rabid screaming). Scientists transformed the skin cells into muscle-like cells to be used in their exon-skipping research. The team had never tried exon skipping in DMD cells with Charley’s specific genetic mutation. We just heard from the CEO of Prosensa last week. Charley’s skin cells were successfully transformed into muscle-like cells. Now the exon-skipping experiments on his cell sample have begun, and all is proceeding smoothly.

Although the trip raised many questions for the boys about why we were there, we still managed to keep it light and have a sense of adventure. In Amsterdam, we visited a zoo, a science museum, and lots of great shops and restaurants. And of course Charley is only five years old, so the facts aren’t 100% clear in his mind. Before we left for Europe, I took the boys to a local bookstore to buy some books about The Netherlands. I was waiting on the checkout line with my books about Van Gogh and the tulip trade, when Charley came running over from the children’s section, excitedly waving a Peter Pan book. “Mommy!�? he shouted. “Here it is! Here’s where we’re going…Neverland!�?

Two days after our return from Amsterdam/Leiden, the boys and I hopped back on a plane for our quarterly visit to the MDA clinic at Children’s National Medical Center in Washington, DC. There are Muscular Dystrophy Association clinics all over the country, including one close by in Springfield, MA. But the range of quality is astounding. There is very little agreement among physicians about how children with DMD should be cared for. Even basic questions like “Should we increase his steroids dose as he gains weight?�? are answered differently by different doctors. Because there is so little scientific data on the disease, we have been seeking out doctors who suggest treatments that they “have a hunch�? might help based on anecdotal evidence. Although this is a scary basis for medical decisions, we have no choice but to take a chance on these gut feelings until there is more empirical evidence on which we can rely. We chose the neurologist in Washington D.C. because she recommends a cocktail of nutritional supplements that may –or may not – delay the progression of the disease in Charley’s body. Although it was a long and for the most part extremely boring day at the clinic, we managed to save the trip with a visit to the National Air and Space Museum the following day. All in all, Charley actually enjoyed the trip to “George Washington.�?

Next stop: San Francisco, California. This was an amazing journey. Four friends from the Harvard class of ’92 put together an incredible fundraising dinner. They invited their friends and colleagues to cocktails and dinner at the University Club. Benjy and I mingled with the crowd and gave a power point presentation about the fund and the research we are supporting. One of the hosts gave a rousing, motivational appeal speech, and the checks started rolling in. We were lucky to have some very generous “matching donors�? for the evening, so any gift above $500 was matched. The guests at the dinner – most of whom we had never met before -- were incredibly interested and supportive. We are still receiving gifts from people who attended the dinner, and from those who could not come but donated anyway, so we do not have a grand total. However, at last count we were flirting with $60,000 from that one night!!! I will update you when we have some firm numbers. In the meantime, a big push for our 2006 fundraising plan is to replicate dinner parties like these all over the country. If you are interested in hosting, or if you know someone who might want to host, please call us at (413) 528-5745.

Our most recent trip was out to Salt Lake City to attend the bar-mitzvah of one of Charley’s 18 first cousins (not all from the same family; with Salt Lake City thrown in there, you never know!). Benjy’s sister recently moved out West to enjoy the mountains and the snow. At last, a trip that had nothing whatsoever to do with Charley’s Fund…just family. We are home now, totally spent, looking forward to weeks and weeks of snowball fights and hot chocolate. Hopefully the farthest we will have to go for a long while is to see a movie or catch a bite to eat in town.

Of course we wouldn’t be comfortable with total quiet, so this weekend we are hosting the director and cameraman from Darius Goes West (www.dariusgoeswest.com), an independent documentary about a boy with DMD who traveled across the country with a group of 10 friends. They will spend some time getting to know our family, and interview us for the movie. Please follow their progress on the Darius Goes West website…with a groundswell of public support, Darius Goes West could be the greatest sleeper indie hit of the century!