Of course I do the turkey thing in November like everyone else. But today I’m feeling like I need more days of giving thanks than just that one Thursday in November. As I scroll through the names of donors who contributed to our 2012/2013 annual appeal, I am overwhelmed by the show of support. To those who have given every year — year in and year out– THANK YOU! To those who came back after taking a hiatus, THANK YOU! To those who are new, THANK YOU! To those who told a friend about Charley’s Fund, THANK YOU!

And to those who are getting creative to leverage their own donations, THANK YOU! For the past two years, in addition to their direct support of the fund, NAM (National Arbitration and Mediation) has taken out has taken out several full, half and quarter page ads in the New York Law Journal and other trade publications to show their support of Charley’s Fund, including a huge smiling photo of Charley. This exposure lets the readership know about our fight against Duchenne. If you advertise in a trade journal or other publication, follow NAM’s lead and let your audience know about your support of Charley’s Fund!

Photo credit: Darius Weems on Facebook

This just in –ABC’s Nightline devotes its entire Thanksgiving special to Darius Weems!!!

Follow Darius to Maine, where he rocks the house as part of his “Believe…” tour.
Join him in Baltimore, where he participates in a clinical trial for a medicine that could help his heart.

Charley’s Fund gives thanks to “Big D” for his heroic fight.
And we give thanks to ABC’s Nightline for letting the world Know About It!

Next Thursday, Nov 22, at 11:35 pm on ABC
Set your DVR/TIVO now!!

www.charleysfund.org

www.dariusgoeswest.org

Last year we made a huge deal about Charley’s 11^th birthday.  We appeared on national TV to talk about our little boy who, miraculously, turned 11 on 11/11/11.  You sprung to action.  And together we raised $74,000 in honor of that significant, mystical day.  On that day one year ago, we vowed to deal Duchenne a devastating blow.   So how did we do?

We one-upped ”devastating blow” and delivered a powerful 1-2 punch.

1.  Sarepta Therapeutics showed that kids with Duchenne who took their exon-skipping drug for 48 weeks IMPROVED on the 6-minute walk test.  The boys also produced dystrophin, the protein that kids with Duchenne are missing.
Bam!

2.  Summit PLC completed a phase one study in healthy adult volunteers and showed that their Duchenne medicine delivers drug levels that are expected to significantly increase utrophin production.  Utrophin is a protein that can compensate for lack of dystrophin.  In that study, the blood plasma concentration of healthy volunteers showed more than enough drug to increase utrophin production by 50%.
Pow!

There is a TON more to report, including extreme progress on an anti-fibrotic medication being developed by Halo Therapeutics.  So keep an eye out for our annual newsletter, coming via snail mail later this month.  Behind the scenes we have a tightly-run team diligently working on calisthenics and practice rounds (ie, extensive due diligence, pharmacokinetics, long-term tox studies, dosing experiments, reformulation analyses, and all the other arduous, expensive work that is required before a new medicine can be tested in humans.)  This is the work that ultimately leads to major advances like the two that were reported this year.

We’re bringing Duchenne to its knees.  We will keep at it until we’ve knocked this disease out cold.

Thank you for your support, your donations and your encouragement.

Happy birthday Charley!

Speaking of boxing, this is Pietro (age 3).  He was diagnosed with Duchenne this year.

For companies working in orphan diseases, support from patient advocacy groups and foundations is critical, both in terms of providing much-needed funding and building relationships with the small patient communities. But 2011 start-up Halo Therapeutics LLC credits its connection to patient groups to the company’s actual formation. Charley’s Fund and the Nash Avery Foundation both direct money for research in Duchenne’s muscular dystrophy (DMD). Those two particular associations began working with Marc Blaustein, who serves as CEO of Halo, and other industry veterans, “looking for ways to more effectively use their funds,” Blaustein told BioWorld Today.

Together, they identifi ed a drug that appeared to be a promising candidate in DMD. A pharma fi rm had been working on a formulation of halofuginone, a compound derived from an herb used in traditional Chinese medicine, in several indications. Though the drug had never been tested in DMD, its anti-fi brotic properties sounded promising.

DMD is a progressive neuromuscular disease that affects the production of dystrophin, a protein that “acts as shock absorber in muscles,” Blaustein said. DMD patients suffer muscle damage and muscle degeneration, with fatty and fi brotic tissue replacing healthy muscle, becoming fatal when it affects the diaphragm and heart muscle.

Right now, treatment with a corticosteroid is the only therapy available to patients. At best, it delays some disease progression, Blaustein noted.

Other treatment approaches in development are looking for ways to increase dystrophin production, such as AVI BioPharma Inc.’s eteplirsen, which recently demonstrated mixed data in a Phase IIb trial, showing a signifi cant increase in dystrophin in DMD patients, but failing to show clear clinical outcome improvements. (See BioWorld Today, April 3, 2012.)

AVI’s drug, as with Prosensa NV’s Phase III-stage PRO051 (GSK2402968), partnered with GlaxoSmithKline plc, is based on exon-skipping technology, which means it is aimed at a subset of DMD patients. Another candidate, ataluren from PTC Therapeutics Inc., also is targeting another DMD subset, those whose disease is caused by nonsense mutations.

Another approach, in development by fi rms including Summit Corp. and Tivorsan Pharmaceuticals Inc., focuses on creating drugs that can up-regulate utrophin, a similar, naturally occurring protein to dystrophin. Those drugs have the potential for use in all DMD patients.

But even if all of those treatment strategies are successful, the problem of fi brosis is still present, Blaustein said. “All boys, regardless of mutation, end up with the same pathology of increased muscle degeneration and reduced regeneration and muscle fi brosis.”

HT-100, which recently was granted orphan status by the FDA, works via a mechanism designed to affect the disease in two ways: “First it promotes muscle regeneration and then it halts, and even reverses, fi brosis,” Blaustein explained. Its mechanism also could open up the possibility of combining HT-100 with other drugs in development, such as the exon-skipping candidates.

Halo hasn’t conducted any such trials yet, but combination treatments likely will become part of clinical testing “as the standard of care evolves,” he said. Halo is gearing up for a Phase II study to start in the second half of this year to test the drug’s safety, tolerability, pharmacodynamics and effi cacy. “We’re going to look at measures of fi brosis,” Blaustein said, as well as clinical performance measures such as strength, the six-minute walk test, the stair climb and other measures of clinical function.

He was reluctant to give a specifi c timeline for completing the trial, since the study has an adaptive design and patient enrollment speed is diffi cult to gauge. “But a 12- to 18-month range is a rough guess.”

To date, Charley’s Fund and the Nash Avery Foundation has funded all of Halo’s work. As work advances, the fi rm will be looking to bring in additional money from venture or institutional investors and strategic partners, Blaustein said.

“The science behind HT-100 is very strong,” he added. “It’s very exciting, and it’s caught a lot of people’s attention.” Because of its anti-fi brotic activity, HT-100 also could be expanded into clinical testing for other indications. Halo’s goal is to target DMD fi rst and then develop a strategy for other areas, hopefully in collaboration with a partner.

Halo operates as a virtual company, with Blaustein as the only full-time employee, though about 15 people are working part-time on the project, including consultants with extensive experience in DMD and fi brotic diseases. And the fi rm intends to remain close to its patient associations going forward. “They’re critical to our mission,” Blaustein said. “They understand and support what we’re doing. The motivation is very strong to find a safe and therapeutic treatment for this disease.”

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Charley with his sister Maisy in Florida last week

Clearly I haven’t mastered the art of blogging. This week it occurred to me that I hadn’t posted an entry in a while, maybe even a couple of months. So I logged in to update my readers. To my shock and horror, the most recent entry is dated January 2011! So it has been a couple of months, PLUS A WHOLE YEAR!! The reason for this sorry delay is not because I’m too busy. With fundraising for Charley’s Fund and overseeing the foundation’s operations; taking care of three kids (plus husband); and running my new shoe company, I am definitely not swimming in free time. But I do have moments here and there, and blogging only takes a few of those.

I think the problem lies in my learning curve with the genre. I still struggle to achieve that new-age balance required for blogging – the balance between writing and talking that seems to come so naturally to anyone under the age of 30. The lessons I learned in the required expository writing class at college (“freshman expos”) are still deeply ingrained. Labor over every word. Use a thesaurus. Start each paragraph with a topic sentence, and make sure the rest of the sentences in the paragraph fall neatly under that umbrella. Conclude with a summary of your main points, plus a dash of something new and thought-provoking to make sure the piece isn’t boring.

I’m at peace with the idea that with blog entries, all that goes out the window. But I fear that in the absence of that old reliable structure, I’ll ramble on like I’m talking to my sister on the phone and bore you with every last detail of my day including what happened with Sam at the orthodontist and my thoughts on why Maisy doesn’t like turkey anymore.

So I procrastinate. And I avoid. And now it’s been 14 months since I last updated you. Today I realized that even worse than the risk of boring you with excessive unimportant details is the risk that you will attribute my infrequent postings to lack of important advancements to report, which could not be further from the actual case.

It’s useless to try to get you up to speed on the past 14 months, so I hope the Charley’s Fund website and our two mailings last year kept you more or less up to date. Halo Therapeutics is advancing its lead compound (HT-100) into clinical trials. Prosensa’s lead compound has advanced to phase 3 clinical trials, and we are once again collaborating with the Dutch biotech to develop more exon skipping drugs for Duchenne. AVI Biopharma is expected to release crucial clinical trial data next month. Tivorsan Pharmaceuticals has licensed the right to develop biglycan as a therapy for DMD. They are now raising money and putting a development plan in place. Two clinical trials are well under way to test repurposed FDA-approved drugs, Revatio and Increlex. So things are hopping.

To support this miraculous progress at the fastest possible rate, we launched Muscle Up!, a campaign to raise $5 million over two years.  We are gearing up now to form a committee, secure lead donors, and pound the pavement to make sure reach we our goal.  To give us a leg up, Maclaren released the “I Believe…” stroller, which is making its way into nurseries of some pretty big stylemakers.  So far Blue Ivy has one, and also rumored Real Housewife of New York Aviva Drescher.  So if you want to be hip AND support Charley’s Fund, get your stroller now at maclarenbaby.com!

That’s it – I’m stopping now because I don’t want to “laundry list” you. And I know myself too well to end with a promise to blog at least once a week. Instead I implore you to think of Charley’s Fund the next time you need a gift – the next time you have a birthday – the next time you find yourself with some spare time – if you have an ipad you can donate. All hands on deck now to raise $5 million!!

Searching for Products & Shopping Through GoodShop

Merchants (like the ones shown on the right) have agreed to contribute a percentage of their sales (or a fee for the number of pages searched on their site) to charity when customers shop through GoodShop or generally search through GoodSearch.  Percentages vary from merchant to merchant.

You pay nothing more by shopping this way than you would if you went directly to the merchant!

Start by putting the GoodShop icon on your desktop.  (This will make it easier to start searching or shopping.)

First, go to goodshop.com.

Second, right click your mouse once you’re on the goodshop page.

Third, choose “create shortcut” by clicking your left mouse button.

Now you can start shopping and searching for products through GoodShop by double-clicking the icon on your desktop.  Note some of the different sections below.

Choosing Charley’s Fund as Your Charity

Choosing a Merchant

Choosing from Product Categories

Nothing exemplifies the commitment this takes more than our first outing to a professional sporting event. In September, I decided to take the kids to the men’s finals of the US Open. Thanks to a generous friend, securing the tickets was easy. For this event, thankfully we didn’t have to stress out about the ticket prices or engage in exhausting mental gymnastics trying to outsmart the other eBay bidders. All I had to do was say yes and we had our seats to this coveted event.

That’s where the easy part ended, though. On the day of the finals, Benjy woke up with a horrid flu. I tried to convince him that he was just stressed and tired but the fever and the chills were real, so we had to leave him behind. To make matters worse, the skies were cloudy (dense gray clouds, not white fluffy ones) and the weatherman was predicting thunderstorms. I was ready to give up and watch the match on TV but Charley insisted that the weather in the Berkshires is “totally different” from the weather in New York and it was probably fine in Queens. And even if it was raining we could bring an umbrella. And watching it on TV is not the same. And you promised.

When Charley gets into his unrelenting mode, it is brutal. It’s hard to describe unless you’ve experienced it. Ask any teacher who has had him the classroom or or even his grandparents who (because they’re his grandparents) are inclined to think he is wonderful and adorable and well behaved. They will all confirm this — when Charley gets stuck on something there is literally no way in hell to get him off it. So we got in the car. I’m sure you know where this is going – after the 3 hour drive, we hung out in the rain at the food court for 90 minutes, eating everything in sight. And the match was called and we had to turn around and drive home.

Call me a sucker but I did wake up the next morning and pile the kids in the car to try again. That’s right, three more hours down to New York City because I wasn’t willing to give up. We had planned to see Federer and Nadal duke it out and I wasn’t going to give up that easily. This time the sun was shining, there was no traffic because it was Monday (yup, I let them miss school), and all I could think was This is the day we were supposed to have. Isn’t it wonderful when you don’t let circumstances get you down and you just get right back on the horse. Not even the fact that I had to piggyback Charley up the steep steps to our seats got me down that day. I was too busy congratulating myself for living up to the old adage “If at first you don’t succeed, try try again.”

Toward the end of the first set, when the kids were munching on burgers and I was borrowing my neighbor’s binoculars to scan the crowds for more celebrity sightings, literally out of nowhere the sky became dark. My first thought was “wow it’s already getting dark early” and then I realized it was only 6 pm. I turned my head upward and to my total disbelief a humongous black rain cloud was closing in on us. It came on so fast it was almost unreal. Within minutes the perfect sunny day transformed into a torrential mess. The crowds scrambled for cover and we headed for home.

Believe it or not the kids had a blast, which just goes to prove that any experience can be an adventure. During Take One — after we got soaked huddling under the sunbrella at the food court — a friend invited us to wait it out in a very fancy celebrity-studded suite. I pretended I wasn’t listening while a famous newscaster chit-chatted with an Oscar- winning Best Actress. Charley and Sam stared at NBA star Chris Bosh, then finally got up the gumption to ask him for autographs and a photo op. That experience alone was enough for my boys to justify the 6 hours of car time that first day. During Take Two we got to see some really exciting tennis, even if it was only one set. And of course the kids got to miss school. When they got back home to their friends, those autographs and that photo had my boys floating on air for days.

Knowing it was worth it despite the mishaps has motivated me to keep planning these outings. Next month we are flying all the way across the country for a grand total of two days to see the Clippers play the Lakers and the Celtics, and I couldn’t be more excited for my kids.

Thank you to everyone who has come forward with offers to help us make the most of The Year of Doing Everything. We are loving every minute of it!

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.