Thoughts on the FDA Advisory Committee Meeting to Consider Eteplirsen

Catherine Jayaysuriya
Dusty’s Mom
Coalition Duchenne
Founder and Executive Director

Monday, April 25th's Advisory Committee meeting felt more like a cross examination in a criminal case than a fair discussion about the efficacy of a promising treatment for Duchenne.  As the clinical data on eteplirsen was scrutinized, minor details became exaggerated, such as  doubts on validity of the 6 MWT, and ignorant opinions such that boys with Duchenne can walk if they put their minds to it, to be the same level as key facts. I question their competence to even be on the panel.

The Advisory panel stood in judgment of something they don’t fully understand, which is the complexity of the Duchenne situation. They characterized the parents as ‘emotional’ which diminishes our input as we actually have the best ‘fact based’ knowledge and first hand experience of Duchenne.  And they didn’t seem convinced by the testimony of parents, and most importantly, the boys who are on the eteplirsen trial themselves. There is a strong need to break away from herd mentality of bureaucracy and business as usual.

I advocate for the generation of boys who have lived the natural progression of the disease.  I feel certain that there were many on the panel who do not understand that when Duchenne is left untreated, the progression is cruel and relentlessly progressive.

Dusty Brandom, age 23.
My 23-year-old son Dusty Brandom will not benefit from eteplirsen but would benefit from the follow on drugs targeting other exons once approval is made. Dusty has been waiting for this treatment ever since we funded Steve Wilton's oligos work through the Dusty Brandom Fellowship in 2004. It feels like Dusty has been hanging on to a cliff, but now by his fingertips. By the FDA not approving, we will lose a generation of boys including my precious son. We really are running out of time.
Steve Wilton and me.

The judgment made at the 11th hour literally, felt like a series of bullets that deeply wounded our Duchenne community. But we don’t fall easily. In spite of my sadness and disappointment, I do have a glimmer of hope, because FDA Director Janet Woodcock, in her opening remarks, reminded the panel of the harm that could be done by failing to approve a drug that does work. The final judgment comes May 26th.

Thank you Senator Marco Rubio, for championing our Duchenne cause in your speech to Congress today.

Lessons From A Mountain

Climbing Mt Kinabalu!

The months of planning and preparing for Expedition Mt Kinabalu 2012 have come to an end. The climb was a success and now everyone has left, mostly by plane, back to their countries, their homes and their families.

I decided on my last day in Kota Kinabalu, to take a boat trip out to one of the nearby islands, to take advantage of the fact that I was free for the day.

As the speedboat left the dock I looked back at a cloudy sky, and noticed every now and again, Mt Kinabalu emerging in and out from behind the clouds, childlike, as if playing a game. It made me smile.

I reflected upon our recent climb as I kept looking back at the mountain dancing with the clouds.

Although we had a few parents who were climbing for their sons, most of our 64 climbers who participated this year had never heard of Duchenne muscular dystrophy. Over the months before the climb they had contacted me, wanting to be part of our quest to raise global awareness for Duchenne and to help make a difference.

The two-day climb was challenging. The first day was a long hike up to 11,000 feet where we spent the night at our lodging Laban Rata. Much of the group arrived in the pouring rain and by mid afternoon a heavy mist had swept in, dampening any hope of seeing the mountain peaks above. The tiredness of the day kicked in and the altitude didn’t help, but we were all upbeat and happy to have the day’s climb behind us.

The weather on Mt Kinabalu is unpredictable, and sometimes the summit trail is closed if conditions get too dangerous. With the rain beating down outside, we listened to this briefing while we ate dinner.

The next day came around quickly, and not many of us slept much. In the early hours at around 2 am, we began to get ready for the last 2,000 feet to the summit. As we busied ourselves getting equipped with jackets, headlamps and gloves, I suddenly realized that not only had the rain stopped, but above, the stars were all around us. This meant that we would have a most amazing view from the top, and most exciting for me, we would be there to greet the sunrise.

As the dawn approached we saw the shadows of the peaks on either side of us, and in the distance, a trail of shimmering lights from everyone’s headlamps leading us to the top.

The last hour was a test of physical endurance and mental resolve. The rock face was slippery and relentless. Out of the darkness we clambered over the last of the granite boulders as the sky transformed into a kaleidoscope of colors. We reached the summit in time for the sunrise. After the long climb the victory was sweet. Being surrounded by the sky’s comforting colors felt tranquil and peaceful.

The climb down had its challenges, with some slips and falls here and there, but nothing serious. By the time we arrived at the bottom, Mt Kinabalu was completely shrouded in its cloak of mist.

Back on my island trip, from the boat, I once again glanced back at Mt Kinabalu. I could make out the faint outline of its peaks through the distant clouds. I smiled again to myself and then smiled at the mountain.

I was reminded of our oneness and how we all came together for something good. Everyone travelled to Sabah, leaving behind their busy lives, to climb for all the boys and young men with Duchenne. Our complaints of exhaustion, of our tired and aching muscles faded to thoughts of the boys and young men who we climbed for. It was in the quiet moments that we understood why we were here. It is the smiles I will remember; smiles when we reached the summit, and when we got back down the mountain.

But it is the smiles of the boys and young men with Duchenne that I will remember most. The smiles of Albert, Azmi, Edmund, and my son Dusty, innocent, pure and playful, that are etched into my mind.

Again, like I always do, I blinked Mt Kinabalu into my memory.

Lucas Brandom Climbs A Mountain In Borneo for Duchenne

Lucas Brandom climbing Mt Kinabalu in 2011

(This article was written by Patrice Apodaca, a writer for the Daily Pilot, Newport Beach).
Lucas Brandom climbed a mountain for his brother.
Shivering cold, soaked to the skin and numb with exhaustion, Lucas made the excruciating final push to reach the 13,455-foot summit, then swore he'd never do it again.
But, sure enough, after several months, the memories of his aching body receded. Propelled by the strength of his brotherly devotion, the 17-year-old Newport Beach resident is preparing to climb Mt. Kinabalu on the island of Borneo inMalaysia once again to promote awareness of the disease that has robbed his sibling of a normal life.
Lucas is the younger brother of Dusty Brandom, a remarkable young man whose battle with Duchenne muscular dystrophy, an incurable degenerative disease that afflicts one in 3,500 boys, has been previously chronicled in this column ("Dusty's road is winding but rewarding," June 17, and "Dusty continues on his path," Nov. 6).
Dusty, now 19, has lost the use of his arms and legs, requires breathing assistance, and has severe scoliosis and a raft of internal ailments caused by the genetic muscle-wasting disorder. In the year since I first wrote about him, the disease has continued to take its toll; he can no longer eat solid food, and subsists on a diet of Ensure liquid supplements.
Dusty has endured his plight with courage, dignity and resilience. Yet, as anyone with a seriously ill family member can attest, the affects reverberate beyond just one person.
The disease has also had a major impact on the young lives of Lucas and sister Gabriella, 12, who have grown up watching their beloved big brother suffer as Duchenne continues its cruel onslaught.
But if their situation invites sympathy, Lucas offers another perspective.
"Some people could get angry, but at the same time you could look at it as a gift," he said. "People can learn a lot from the disease, just about life. People with Duchenne don't really have egos. They're non-judging.
"It showed me how to see people for who they are, in a nonjudgmental way."
Duchenne has also influenced how Dusty and his siblings relate to each other. There's no competition or discord among them, and they are highly protective of each other.
"I've never gotten in a fight with my brother or sister," Lucas said. "It's made us all more mature."
I don't doubt it. To an outside observer, the Brandom kids appear to have a worldly wisdom and quiet intensity that's unusual to have at their ages.
While their lives revolve around a tight-knit family unit, Lucas and Gabriella have also found ways to pursue their own interests.
Lucas, who will start his senior year at Corona del Mar High School in September, is an accomplished musician and plays bass in the band Final Crush. He practices at least four hours a day and hopes to study music in college.
Gabriella, who is home-schooled, loves to bake and cook vegan meals from scratch. She has also discovered a gift for storytelling, and composes letters to Dusty as if the characters she invents have written them.
"They have their own secret language," said their mother, Cath. "Their ages are different, but somehow the age doesn't matter."
The family also rallies behind the charity started by Cath, Coalition Duchenne, which raises funds to advance research into treatments for the cardiac and pulmonary damage caused by the disease.
The nonprofit also organized last summer's mountain climbing expedition to generate awareness of Duchenne.
Dusty was able to make the difficult journey to Borneo then and waited at the hotel with his father, Neil, and Gabriella, while Cath, Lucas, and 33 other climbers from around the world ascended the mountain during an unusually fierce storm.
The second Kinabalu climb is scheduled for August. This time around, Lucas plans to train beforehand, and will be accompanied by two friends, Ian Henderson, a recent CdM graduate, and Evan Romano, who will graduate next year with Lucas.
A group of 60 climbers from around the world will join the effort, including a documentary film team and the U.S. ambassador to Malaysia. The expedition is generating a good deal of publicity there; last week Cath was interviewed about the climb on Malaysian television.
Uncertain if he could once again tolerate the long journey and conditions in Malaysia, Dusty has decided to stay at home in Newport Beach, along with Neil and Gabriella.
There's no trace of self-pity or bitterness in Dusty, who said he simply "tries to deal with things as they happen."
He thinks it's "really cool" that Lucas will once again trek to the mountaintop on his behalf.
"It's really great that everyone is supporting me and all the other boys who have Duchenne."
I asked Lucas to recall some of his favorite memories of he and Dusty together. He talked about playing at the beach when they were little and Dusty could still walk. He remembered an elementary school talent show where they performed together. Lucas was on drums and Dusty was in his wheelchair, playing guitar.
But that was then. Now, as Lucas looks ahead to his second attempt to scale a mountain for all the boys afflicted by Duchenne, he knows it will be Dusty he'll be thinking about.
"He motivates me to climb," he said.
For more information on Coalition Duchenne and the Mt. Kinabalu expedition, visit

Blinking in the Grand Canyon

View from the South Rim

A visit to the Grand Canyon in early spring is a reminder of the big picture of life, and that perhaps all our worries are small and we can spend too much time dwelling on them. I contemplated this as I looked out from an elevation of 7,000 feet into the vastness of the Grand Canyon, breathing in the cool spring air, as a light breeze gently blew my hair into my eyes.

We arrived close to sunset, after a long eight-hour drive. We watched as the Grand Canyon transformed itself into a kaleidoscope of colors. The golden reddish light lingered upon the highest plateaus of the canyon as its depths disappeared into the darkness of the night. We were then treated to the darkest of skies and to thousands of the brightest stars.­­

As the next day’s dawn began to brighten the day, we took a drive around the canyon’s south rim. We stopped along the way and walked out onto the various precarious vantage points, all with breathtaking views and sheer drops of thousands of feet into the canyon. At times I was a little concerned that my son’s wheelchair was too close to the edge or that my other two were leaning too casually against the railings, especially since it was quite windy.

The first time I visited the Grand Canyon was over 30 years ago. Nothing had really changed. For a moment, time really had stood still. I remembered sitting on a ledge at a lookout point and I began to search for that exact spot, in the hope of taking me back to that time.

I was reminded of the awe I felt seeing the canyon for the first time and making sense of its creation and existence. As I looked around I saw families, couples, hikers and people from all over the world just sitting and absorbing the view.

We continued along the path to Mohave Point. It was here that we glanced down and saw for the first time, the azure colored Colorado River, meandering far below on the canyon floor.

It was difficult to comprehend the fact that the Colorado River established its course through the canyon at least 17 million years ago and continues to carve and form the canyon.

But it was easy to notice and reflect upon how small we are and our feats somewhat insignificant compared to what the river has been creating.

As I watched the river, I thought about the flow of time. I was here as a teenager, and now years later I am here with my own family. One day it will be my children’s children who will be standing upon this very lookout point.

I thought about the river as a teacher about life, the way it meanders softly along downstream; with ease it flows freely around obstacles in its path; peacefully and patiently, as if just focused on being. The river isn’t dragged down by the hardships of life, it just goes with the flow, on and on, like it has for 17 million years.

Our trip to the Grand Canyon was a short one, but our memories will be forever. We said goodbye to the Grand Canyon by blinking in a certain view and sealing it into our memory.

As I held my daughter’s hand, I shared with her that the river is a good example of how to be in life. After all, we are all creating and carving out our own canyons, our lives. And we are the river that runs through it all.

The Colorado River

Expedition Mt Kinabalu!

Summit of Borneo
August 25th, 2012

Welcome to the second annual Expedition Mt Kinabalu! On August 25th 2012, I will be part of a team of 60 international climbers who will scale Mt Kinabalu, summit of Borneo, to raise global awareness and funding for Duchenne muscular dystrophy.

Duchenne is a fatal, progressive muscle wasting disease that affects one in 3,500 boys worldwide. It robs boys of their ability to walk, breathe, eat and speak, and eventually takes their lives, often before they reach age 20. It leaves their minds unaffected and full of dreams.

This is a personal quest. I will be climbing for my 19-yr-old son Dusty who has Duchenne, and for all the thousands of boys who are faced with the challenges of this disease everyday.
All money raised will go directly to funding promising research that will extend lives and find a cure for Duchenne.

Please sponsor me by clicking on the link below, and help change the future of all the boys and young men with Duchenne worldwide.

With sincere gratitude,

Cath Jayasuriya

That Was The Year That Was!

Holiday Greetings & Happy New Year 2012
from Coalition Duchenne!
That Was The Year That Was!
2011 has been a year of action for Coalition Duchenne. After its inception in March, Coalition Duchenne, a 501(c)(3) non-profit organization based in Newport Beach, California, held two successful events:
Expedition Mt Kinabalu, Summit of Borneo: On September 9th, a team of 35 international climbers from nine different countries scaled Mt. Kinabalu, the 13,455 ft summit of Malaysian Borneo

Music Power: On November 11th, six incredible bands featured their music to over 600 people at the Galaxy Concert Theater in Orange County, California.
Meeting President Obama
The highlight of the year was a trip in June to Washington DC to privately meet with President Barack Obama in the Oval Office. This was my son Dusty's wish through the Make A Wish Foundation. We told the President all about Duchenne and Coalition Duchenne. Michelle Obama said of the President that when it comes to the people he has met, he has a memory like a steel trap. He will never forget a story like Dusty's and that it becomes imprinted on his heart, and he carries it with him every day. Read the story here.
Coalition Duchenne lived up to its mission to raise global awareness for Duchenne muscular dystrophy, and raised much needed funds for research to find treatments and a cure.
Borrowing from Martin Luther King Jr.,
We are confronted with the fierce urgency of now.
Coalition Duchenne has responded.
As the founder of Coalition Duchenne and as a mother of a 19-year-old with Duchenne, there is no time to waste. Even though research has had some major breakthroughs and we are closer than ever before, there is still no cure for Duchenne. At Coalition Duchenne we believe that with more global awareness and with more funding, we will attract more research, treatments and a cure.
Now is the time for humanity to come together to save our sons.
Coalition Duchenne is about acknowledging and bringing together all the world's Duchenne muscular dystrophy organizations and individuals. But it is more than that. Coalition Duchenne is dedicated to reaching out beyond the Duchenne community and into the world. The world needs to know about Duchenne.
Duchenne is a progressive muscle wasting disease that leaves our son's minds unaffected and full of dreams. It is the most common lethal childhood genetic disease.
Duchenne affects one in 3,500 boys worldwide.It robs boys of their ability to walk, breathe, eat and speak, and eventually takes their lives, often before they reach age 20. Duchenne affects boys and rarely girls, all over the world, from the USA to Asia, Australia, Europe, India, South America and Africa. It knows no boundaries and does not discriminate between race, culture, socioeconomic status or country.
Moving forward, we are stronger if we all come together, as humans, as a force, as a coalition, bringing everyone together.
Duchenne is a difficult road and presents many challenges along the way. It steals many things, the ability to walk, to hug, to move, and eventually to breathe. But there is that something that it can never get to, that it can never take, and that is hope.
Coalition Duchenne's logo is a lotus flower, designed by my 12-year-old daughter, Gabriella. A lotus grows out of dark muddy waters, and blossoms into a beautiful flower. The lotus symbolizes enlightenment in spite of our circumstance; it symbolizes our awakening and understanding of the oneness of us all.
Now is the time for humanity to come together. This year, together we climbed the highest peak of South-East Asia and we brought people together to raise awareness for Duchenne through Music Power. Out of diversity, we are one people, connected through love, kindness, compassion and positive energy.
Research Initiatives
Coalition Duchenne is evaluating promising initiatives in cardiac and pulmonary research. To name just a few: FDA approved drugs such as Sildenafil, and other PDE5 inhibitors, and Spironolactone are potential adjuncts to established ace inhibitors, such as Lisinopril, and beta blockers, such as Carvidelol, to help maintain and even improve cardiac function; Stem cell research is beginning to offer potentially viable treatments although research has been focused on other patient groups; and, several other novel drugs and proteins are close to an FDA investigational new drug application.
Our track record of evaluation and funding is solid. To date, we have raised over $1 million, partly channeling the money through Parent Project Muscular Dystrophy. Independently, we funded the Dusty Brandom Fellowship at the Australian Neuromuscular Research Institute at the University of Western Australia. This helped Dr. Steve Wilton with groundbreaking work on Oligonucleotides (Exon skipping). These nucleic acid polymers are now showing promise in FDA trials. We funded another fellowship with Dr. Andrew Hoey at the University of Queensland working on cardiac research. We have also contributed significant funding to Albuterol (Spencer, UCLA) and small molecules (PPMD's Project Catalyst). We evaluated the VECTTOR system advocated by Dr. Rhodes in Texas and provided updates to the Duchenne community. Dusty Brandom has also been a long term participant in the Ataluren trial by PTC Therapeutics.
We have worked hard to support boys with Duchenne. We share their achievements with the world through the Our Sons page on our website and advocate for their issues and care. In one example, we worked with a young man in Malaysia struggling with pulmonary issues and hospitalized with pneumonia. We helped his family source a Cough Assist machine and showed him how to use it on Skype. Last year he graduated with a law degree from the University of Malaysia.
We are closely following the latest research initiatives. Web sites such as are excellent but broad. Treat NMD has synthesized the latest research with links to the specific number and can be found here. Academic Papers relevant to the Duchenne community published in 2010 and 2011 can be found here.
Coalition Duchenne will be announcing its next investment in Duchenne research early in 2012.
But there is more to do. We continue to respond to the call to action.
Again, with more awareness, we will attract more funding, and treatments and a cure for this disease. This gives new hope and optimism for those living with Duchenne. All money raised in 2011 by Coalition Duchenne will fund cardiac and pulmonary initiatives that will help our sons live longer lives.
All of you are helping to raise awareness and funding to find treatments and a cure for Duchenne.
All of us here at Coalition Duchenne hope that the entire holiday season and New Year will be filled with joy for you and your family.
Please consider making a Christmas or New Year donation to Coalition Duchenne.
Thank you for your support, your kindness and your compassion.
With sincere gratitude,
cath signature with picture

What's up with GERD?

American Idol winner Lee Dewyze
visiting Dusty in intensive care

What’s up with GERD? Hydrochloric acid. That’s what’s up. What makes GERD so nauseating is the hydrochloric acid that leaks up from the stomach and into the esophagus, due to a problem with the upper stomach sphincter muscle. What makes it worse is the accompanying nauseating mucus that is produced in the esophagus as it protects its own surface against the stomach’s acids.

This was all new to me, and especially not something I had anticipated with regards to Duchenne muscular dystrophy. GERD was certainly not something on the Duchenne radar of things to worry about. My son Dusty, who is 19 had been complaining of difficulty swallowing, and had a feeling of food being “stuck” in his throat. We were told these were common symptoms of acid reflux and were given a proton pump inhibitor, which is a small pill taken daily that suppresses acid production in the stomach. That was a year ago, and things didn’t improve. We tried to control the types of food, giving him softer or easy to swallow bland foods. But all along, Dusty was eating less, and continued having a sore throat in spite of what or when he ate. What we realized was that all along, food wasn’t the problem; it was his throat, reacting to the acid that was continually being forced up from his stomach.

Meanwhile, the decline in cardiac and pulmonary functioning steadily continued. After all, Dusty is an older boy with Duchenne and these are the expected issues to watch for. Dusty is on the recommended heart medications, assistive breathing devices, and other standard of care treatments.

In the last month we have had to take Dusty to the ER on three occasions, each time dealing with tachycardia (rapid heartbeat), nausea and difficulty breathing. After a total of 26 hours spent in ER, and four nights in hospital, three of them in cardiac intensive care, we stabilized the heart, stabilized his pulmonary and thought we were home free. But there was something else. Dusty just didn’t feel well. He still had nausea, and an increase in mucus that doctors were thinking was a pulmonary issue. But no. That wasn’t the case.

That’s when I heard about GERD.

What is GERD? And why is it happening?

GERD is gastroesophageal reflux disease; GORD, gastrooesophageal reflux disease; gastric reflux disease, or acid reflux disease. It is a chronic symptom of mucosal damage (mucosa line the interior of the esophagus) caused by stomach acid coming up from the stomach and into the esophagus.
When the muscle valve in the esophagus, called the lower esophageal sphincter loosens or weakens, acid splashes up from the stomach. Normally, this valve should close tightly after eating to prevent acid from escaping.
Part of the diaphragm forms an outer sphincter. In Duchenne, when the diaphragm is weaker, and because the diaphragm muscle is integral in functioning of the sphincter, the valve is permanently weakened or damaged and doesn’t work as well.
Barrett’s esophagus is often diagnosed in those who have had long term GERD.  It can be concerning because it increases the risk of esophageal cancer.

I have also read about another kind of acid reflux, which causes respiratory and laryngeal signs and symptoms, and is called laryngopharyngeal reflux (LPR) or extraesophageal reflux disease (EERD).

How do you treat GERD?

The medications used include proton pump inhibitors, which prevent acid reflux over a period of time. These medications decrease the production of stomach acids. Some proton pump inhibitors can help to heal the esophageal lining, which may have become damaged from persistent acid reflux. Other treatments include surgery that helps strengthen the sphincter.
For now, the doctors have Dusty on double the dose of the proton pump inhibitor. In the last month Dusty has been unable to eat solid food. Fortunately he is able to tolerate and supplement his diet with nutritional drinks. In a few weeks there will be a re assessment of any change or improvement to GERD.

Going back to our visits to the ER prior to the GERD diversion, the swing of emotions was intense. Having cardiac issues is serious enough, and watching Dusty’s heart maintain at 200 beats a minute for two hours was frightening. His body literally vibrated in time to the beats. In the ER, it was difficult watching him struggle with nausea, difficulty breathing and feeling unwell. I made sure I kept my mind present with the task at hand and stopped myself drifting into the “what ifs” and the fact that the Duchenne community had recently lost many young boys/men to Duchenne. My mind struggled with this as I helped Dusty’s frail body sit up to cough.

The word got around fast that Dusty was in hospital, mainly due to a facebook post I had made while waiting in the ER. The response was tremendous. Literally hundreds of messages came pouring through from all over the world. I read through the flurry of messages as each came through on my cell phone, and read each one out to Dusty. I was moved and touched by the outpouring of thoughts and prayers and messages of support, some from people I hardly knew.  The messages were comforting. I felt the arms of humanity around me and the oneness of us all.

People have been inspired by the journey of Duchenne that so many of us are on. Our stories are told again and again, inspiring stories of our young sons and their families who know what it means to literally make the best of everyday. Through this journey I have met the most kind and caring people. Living with Duchenne can bring out the best in people whether they are on the journey themselves or not.

Yes, it is a harsh disease. Our hearts break together. In this way the Duchenne community is close. Somewhere in between the ups and downs of the cruel reality of this disease, we find life’s rainbow, the subtle, unexpected beauty that appears when we are not looking for it.

Dusty is still unwell, and he will need to wait out the proton pump inhibitor to work. It can take weeks. For now, he prefers to sit in a dim lit room to help with his nausea, close to an assistive cough-machine that helps to clear the mucus caused by the acid in the esophagus. For the moment we won’t be going on our daily walks, or flying his remote-control planes. Instead we will hang quietly and patiently indoors for this to pass. When I look into his blue eyes, my mind stops racing and worrying, and I feel a sense of calmness and ease.  It is moments like these, and there are many, when all is good.