"Translating results in mice to treatments in humans is never straightforward. Support from the Parent Project will be tremendously beneficial at this stage in the development of stem cell therapies for muscular dystrophy."

- Dr. Perlingeiro

Since the mid-1990s, researchers have investigated repairing muscle lost to muscular dystrophy with various types of cells, usually from an unaffected donor whose cells have a normal supply of dystrophin. Key challenges have included producing and purifying enough stem cells to transplant, getting cells to migrate into the diseased muscle, and then getting the donor cells to survive long enough to engraft and build healthy new muscle without being attacked by the immune system. By using iPSCs, Dr. Perlingeiro's approach should theoretically allow an infinite supply of healthy muscle stem cells to be generated from a single small skin sample from a person with Duchenne. And because a person's own cells, corrected for the dystrophin mutation, would ultimately be used for treatment, the potential for the recipient's immune system to reject the new cells is reduced.

In addition to solving production issues and immune rejection issues, it also appears that some of the cells created by Dr. Perlingeiro's technique do not immediately become converted into mature muscle, but are rather maintained as muscle stem cells and continue to produce new, healthy mature muscle cells within the donor muscle. This means that as diseased muscle is lost over time, it may gradually become replaced with new muscle produced from the healthy transplanted stem cells.

"While the field has seen amazing potential in technology like exon-skipping designed to treat specific mutations, we have lacked a more general approach that could rebuild muscle in any person with a genetic muscle disease, regardless of the type of mutation. As the technology to produce stem cells has matured, we are thrilled that Dr. Perlingeiro is applying these new techniques to the problem of rebuilding lost muscle, which has the potential of helping all people with Duchenne."

- Pat Furlong, Founding President and CEO of PPMD

For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

The agenda is just days away from being finalized, but I can share with you that this year’s meeting will cover:

• Natural history data
• Talks regarding biomarkers
• Numerous Duchenne research presentations
• Care discussions to include topics such as cardiology, bone health and transition care
• Hands on PT sessions
• Discussions related to behaviors in Duchenne and accommodations
• A panel presentation from some of our Industry partners to discuss and update us on clinical trials

And we are excited to be putting in place an Expert Panel of young men living with Duchenne who will be presenting on all topics Duchenne.

We hope you can join us for this meeting. We are sure you will find the topics and speakers informative and inspiring.

Registration details can be found at ParentProjectMD.org/WestCoastConnect. And remember, if you need hotel accommodations while at the meeting, please make sure to book your reservation prior to April 4 to receive our group rate.

Looking forward to seeing you in sunny California!




Related links

• Register for the West Coast Connect Meeting
• Learn more about the Annual Connect Conference & Meetings

There would be no need for donors. Parents would never have to sit at the bedside of their sick child, without options or limited expertise. They would not be asked to make impossible choices. There would be no waiting for a device or a new heart. No parent would carry the burden that a new heart for one means another life ends.    

My Tree of Hearts would come with guarantees, an assurance of more time, even if it felt like borrowed time.

My Tree of Hearts would have generic hearts, beating in rhythm, ready and available for anyone in need. The transplant team would call the Tree of Hearts nursery to make the request. Within seconds, the new, healthy heart would be on its way to the center. The patient would be prepared for the surgical procedure, chest opened and ready as the surgeon, heart in hand, would remove the broken heart and gently lay this new, healthy heart in its place. Gingerly, the surgeon would attach all of the vessels and in a single instant, the heart would take on the genetic characteristics of the recipient and beat strong and steady. No immune suppression required. Lub dub, lub dub. Lub dub. Music to the heart and to the ears of the family waiting in the wings. The surgical procedure would be easy, no complications. Joyful parents, tears in their eyes, would see their smiling son, the cloud of his broken heart a forgotten memory. Each day of recovery would be better than the last until the patient would leave the hospital, eager and excited about this new life.

The ICDs and VADs would come a list of instructions, the ‘how to’s” and essential steps for use. Standards established, proactively intervening. No waiting. None at all. The set of instructions for use would ensure optimal care and instill confidence where the device feels like new, unfamiliar territory. 

Some weeks back you may have watched PPMD’s Webinar on Ventricular Assist Devices or VADS for short. Cardiac surgeons from different institutions discussed VADS and the first US experience, a 26-year-old man with Duchenne performed at Cincinnati Children’s Hospital. The discussion was interesting, frightening, exciting, and humbling.  Another possibility. An opportunity for Duchenne – destination therapy for individuals in severe heart failure, now a potential for our sons. We listened, we learned, and parked the information away in the ‘just in case’ section of our brain.

And then one day, we woke up, signed on to our Facebook account and were heartbroken to learn that one of our own was in severe failure. All of us pushed the emergency button in our brain. How could this happen. So young. So unfair. So heartbreaking. So wrong. And we reached out to others, to anyone willing to listen, calling and begging for help.
One more time, the community raised their voices in protest. NO! NO HOPE AND NO HELP – words we have heard in the course of our journey and thrown out as impossible, intolerable, unacceptable, and unethical. The word rolled off of our tongues. NO!

In the last weeks we have learned more about VADS than we ever wanted to know. 

The idea of an artificial heart and assist devices started long ago. In 1982, Barney Clark received the first artificial heart, called the Jarvick. In 1982, (the dark ages of cardiac surgery) Barney Clark did not expect to live more than a few days, but hoped that Dr. Jarvick and future doctors might learn to save the lives of others someday. Thirty years later, the technology has improved and evolved, and currently there are several FDA approved devices.

A VAD is an implantable mechanical pump that helps pump blood from the lower chambers of the heart (the ventricles) to the rest of your body. VADs are used in people who have weakened hearts or heart failure. Although VADs can be placed in the left, right, or both ventricles of your heart, they are most frequently used in the left ventricle. When placed in the left ventricle they are called left ventricular assist devices (LVADs). The procedure to implant a VAD requires open-heart surgery and has serious risks. However, a VAD can be lifesaving if a patient is in severe heart failure. 

Here’s the hard part. Not every center has a pediatric VAD program. Not every insurance will allow patients to go outside their state in order to receive a VAD. And there are several types of these devices, each one is a bit different, requiring specific expertise, experience, tools, and management. Physicians are typically trained on one particular type. They become familiar, develop experience, and a certain comfort level with a certain device. Like all of us, we go with what we know, what we can rely on, what is familiar. Physicians at other institutions may prefer a different device. There is no ‘one size fits all’ in terms of devices and physicians are not ‘jack of all trades’, able to adapt and feel confident in procedures and devices that are unfamiliar.   

Management of the VAD has serious challenges. ERs have to be alerted in case of an emergency. They have to have tools and knowledge in the event of an emergency. As you might imagine, the local physicians – all of them: cardiac surgeon, cardiologist, neurologist, pulmonologist, nurse practitioner, ER physicians – have to know what to do when, have to have familiar tools, significant expertise and ability, and more than a little experience if the patient is to survive. 

At the end of the day, VADs will be useful in Duchenne at certain times and in certain circumstances. 
Here are our marching orders:

1. Convene interested centers/surgeons to begin to develop guidelines and standards
2. Publish and ensure the community has access to the standards (transparency)
3. Educational information for physicians and families
4. Contact information – questions, information and soon, a helpline

While my Tree of Hearts sounds like wishful thinking at the moment, we will convene leaders in the field to begin to develop standards for the use of devices such as ICD and VADs, and expand our understanding of the policies and practice of heart transplantation.   

For Matthew.

For Mitchell.

For all of our sons.

Since we left DC, we are happy to report 36 members have already signed on as cosponsors.

Please send a thank you note to those members listed below. A hand written thank you goes a long way to creating and maintaining champions for our cause. Find out who your members are and how to send them a thank you message.

House (Bill number - H.R.594)

Sponsor: Rep Burgess, Michael C. [TX-26] (introduced 2/8/2013)

Cosponsors (26)

• Rep Andrews, Robert E. [NJ-1] - 2/25/2013
• Rep Bachus, Spencer [AL-6] - 2/25/2013
• Rep Bishop, Sanford D., Jr. [GA-2] - 2/25/2013
• Rep Brownley, Julia [CA-26] - 2/25/2013
• Rep Ellison, Keith [MN-5] - 2/25/2013
• Rep Engel, Eliot L. [NY-16] - 2/8/2013
• Rep Graves, Sam [MO-6] - 2/25/2013
• Rep Green, Gene [TX-29] - 2/25/2013
• Rep Hall, Ralph M. [TX-4] - 2/25/2013
• Rep Holt, Rush [NJ-12] - 2/25/2013
• Rep Kilmer, Derek [WA-6] - 2/25/2013
• Rep King, Peter T. [NY-2] - 2/25/2013
• Rep Lowey, Nita M. [NY-17] - 2/25/2013
• Rep Maloney, Carolyn B. [NY-12] - 2/25/2013
• Rep Markey, Edward J. [MA-5] - 2/25/2013
• Rep Matsui, Doris O. [CA-6] - 2/25/2013
• Rep Owens, William L. [NY-21] - 2/25/2013
• Rep Peterson, Collin C. [MN-7] - 2/25/2013
• Rep Poe, Ted [TX-2] - 2/25/2013
• Rep Runyan, Jon [NJ-3] - 2/25/2013
• Rep Rush, Bobby L. [IL-1] - 2/25/2013
• Rep Schwartz, Allyson Y. [PA-13] - 2/25/2013
• Rep Sessions, Pete [TX-32] - 2/25/2013
• Rep Shea-Porter, Carol [NH-1] - 2/25/2013
• Rep Slaughter, Louise McIntosh [NY-25] - 2/25/2013
• Rep Welch, Peter [VT] - 2/25/2013

Related Bills: S.315

Senate (Bill number - S.315)

Sponsor: Sen Klobuchar, Amy [MN] (introduced 2/13/2013)

Cosponsors (10)

• Sen Collins, Susan M. [ME] - 2/13/2013
• Sen Isakson, Johnny [GA] - 2/13/2013
• Sen Lautenberg, Frank R. [NJ] - 2/13/2013
• Sen Leahy, Patrick J. [VT] - 2/13/2013
• Sen Menendez, Robert [NJ] - 2/13/2013
• Sen Mikulski, Barbara A. [MD] - 2/13/2013
• Sen Nelson, Bill [FL] - 2/13/2013
• Sen Sanders, Bernard [VT] - 2/13/2013
• Sen Schumer, Charles E. [NY] - 2/25/2013
• Sen Wicker, Roger F. [MS] - 2/13/2013

Related Bills: H.R.594

Related Links

• Find out who your members are and how to send them a thank you message
• Ask your friends and family to support the MD-CARE Act Reauthorization

"We know that even boys who have exactly the same mutation in the dystrophin gene can have different disease courses. It is very likely that other mutations or DNA variants in different genes may play a role in addition to dystrophin."

-- Dr. Nelson

Dr. Nelson will use a relatively new technique known as "exome sequencing" to look only at the parts of the genetic code that spell out the recipe for proteins, known individually as "exons."  Because the exons of the genome make up less than 1% of the total genetic material, this method provides a far more practical way to look at the coding regions (genes) for the about 20,000 human proteins without having to sequence the participants' entire genome.

For this project, Dr. Nelson will obtain blood samples primarily from boys and men participating in registries and other studies who have out-of-frame deletions or know they have Duchenne from a muscle biopsy data and have been identified as "outliers" for the speed at which the disease is progressing in the skeletal muscles—that is, they have very mild disease or very severe disease based on the age that the ability to walk was lost. The work will be conducted within the Center for Duchenne Muscular Dystrophy at UCLA with additional analyses supported by the Genomics and Bioinformatics Core of the NIAMS-funded UCLA Muscular Dystrophy Core Center.

Information generated from this project may serve a number of important functions, including providing critical insight into biological functions that affect Duchenne progression; allowing clinical trial sponsors to select participants with more similar disease courses based on genetic data (to design smaller, faster, and more powerful trials); and identifying new targets for drug development. It is also likely that some of the changes identified will be relevant to other forms of muscular dystrophy and muscle disease.

"The need to identify genetic modifiers is part of our strategic plan for research. We know this information may greatly speed the conduct of clinical trials by reducing the variability among participants in relation to other benefits. We are pleased to be able to fund Dr. Nelson's work."

-- Sharon Hesterlee, PPMD's Vice President for Research

For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

To inquire about participating in this research, please contact Dr. Nelson's office by calling 310-983-3402 or emailing atcdmd@ucla.edu.

Chevron is donating $50,000 to the Houston Marathon’s Run For a Reason Charity that receives the most votes between now and January 8^th. Just click this link, select Parent Project Muscular Dystrophy, hit Vote, and you’re done! It’s that easy.

Vote now, then share this with everyone you know and ask them to vote too! The charity with the most votes wins.

Votes verified by an independent agency. Chevron, the Houston Marathon Committee and the Houston Marathon Foundation are not responsible for votes not received due to computer/internet malfunctions.

Dr. Jay Barth, Vice President for Clinical Development at PTC Therapeutics will present information about the study design and timeline for the upcoming Phase 3 confirmatory study of ataluren in Duchenne muscular dystrophy.

Additional Information:

• Questions can be submitted until noon on Monday, January 14, by emailing info@ParentProjectMD.org (please put "Ataluren Webinar” as the subject line).
• The webinar will be recorded and available for replay shortly after.

To Participate:

1. Visit ReadyTalk.com and use participant code 9449985. (Be sure to test your computer beforehand)
2. Audio Dial-In Information:
   • U.S. & Canada: Dial 866.740.1260 and use the Access Code 9449985
   • Outside the U.S. and Canada: Lookup your number

by Pat Furlong

For the last 12 months, we have all enjoyed Ivy’s blogs. I have had the pleasure of introducing Ivy’s words, wrapping my words around hers, almost as if wrapping a gift, finding the perfect box, filling it with tissue paper, or laying the words on piece of black velvet, like an exquisite piece of jewelry. Some of the time, I thought her words should be on a soft pillow and carried as if in a procession for all to see. This month’s particular one, beamed from earth and posted on the moon to light up the night sky. 

Sometimes I thought about them as comfort food, hot chocolate and blueberry muffins or warm potato soup on days when sadness seemed to surround me.  Often, a few words or a phrase recycled in my brain as delicious morsels, a bag of chocolate chips to savor for the day, a gentle reboot for my thoughts. And there were times when I imagined myself back in school, imagining classes such as ‘Wisdom 101’ or ‘Learnings from Rain’ as I read and re-read Ivy’s blogs.

Like all of you, tis the season for thinking about Miracles, Magic, and Meaning. Duchenne has taught me many things and perhaps the most important is to give, to be part of something much, so much greater than the sum of its parts – a community that is willing to: bear all things, believe all things, hope all things, endure all things in the persistent pursuit of a cure.  

God Bless Us Everyone.

Pat Furlong is the Founder and President of Parent Project Muscular Dystrophy. Follow Pat at her blog.

The Greatest of These  

by Ivy Scherbarth

Nearly everyone, nearly everywhere is celebrating something at this time of year, whether you call it Diwali or the Day of Ashura, Hanukkah, Kwanzaa, Yule or Christmas or something else entirely. Here's what I love: the mingled smells of snow and latkes and gingerbread, fresh oranges and fir needles and peppermint candy. The feel of wool scarves and velvet and polar fleece. The sight of rosy cheeked smiles popping out from the thin visible sliver between hoods and parkas. How about a favorite Christmas song performed by some Romani from France, as a flamenco version translated into Spanish, which was originally written by aRussian Jewish immigrant to America? Whether we see our modern society as a melting pot or a mosaic or even a tossed salad, most of us agree on certain virtues that we think about at this time of year. I am thinking about Peace. I am thinking about Joy. I am thinking about Love. I am thinking about Miracles and Magic and Meaning. I am thinking about Beauty, Truth and Goodness. I am thinking about Faith, Hope and Charity.

I am thinking about what traditions I want to pass down to my children. I want my kids to know that I believe we live in an amazing world, full of beauty that goes far beyond mere prettiness, a kind of immanent beauty that may lead us toward the Something More. I want my children to have a personal experience of peace and to care about what it really means to say to one another, "Peace on Earth." I want my children to understand and to cultivate a deep sense of compassion, to care about the welfare of those who are less fortunate than we are. I want my children to understand true generosity. I want my children to have a deeply nuanced, well-educated and well-rounded appreciation of where we come from and where we would like to be going. I want my children to know that I believe in goodness, the true human goodness we see embodied in the world's many shared traditional virtues.

Though the words are specific, the imperative is, I believe, universal:

         "4 Charity suffereth long, and is kind; charity envieth not; charity vaunteth not itself, is not puffed up, 5 Doth not behave itself unseemly, seeketh not her own, is not easily

         provoked, thinketh no evil; 6 Rejoiceth not in iniquity, but rejoiceth in the truth; 7 Beareth all things, believeth all things, hopeth all things, endureth all things. 8 Charity never

         faileth: but whether there be prophecies, they shall fail; whether there be tongues, they shall cease; whether there be knowledge, it shall vanish away. 9 For we know in part,

         and we prophesy in part. 10 But when that which is perfect is come, then that which is in part shall be done away. 11 When I was a child, I spake as a child, I understood as a

         child, I thought as a child: but when I became a man, I put away childish things. 12 For now we see through a glass, darkly; but then face to face: now I know in part; but then

         shall I know even as also I am known. 13 And now abideth faith, hope, charity, these three; but the greatest of these is charity." (King James Version, 1 Corinthians 13: 4-13)

Or, as most modern versions have it translated: "faith, hope and love." (New International Version)

I believe that parenthood itself requires me to express Faith, Hope and Love continuously in my relationship with my children. I owe them these things by definition. Parenting a child with Duchenne is not quantitatively different. Yet, our families are different, if only because of the awareness that Duchenne brings on its heels. Duchenne forces us to confront the unconfrontable. It forces us to do the very things listed above: to "suffer long" and be patient, to "bear all things, believe all things, hope all things, endure all things" in the persistent pursuit of a cure. And yet I believe that Duchenne is unsatisfied with us merely loving our sons. Duchenne requires us to work much harder if we want to see a cure. Duchenne requires a translation of our lives that includes Charity as well as Love. Charity is love in action.

Go back to the beginning of the chapter:

         "1 Though I speak with the tongues of men and of angels, and have not charity, I am become as sounding brass, or a tinkling cymbal. 2 And though I have the gift of prophecy,

         and understand all mysteries, and all knowledge; and though I have all faith, so that I could remove mountains, and have not charity, I am nothing. 3 And though I bestow all

         my goods to feed the poor, and though I give my body to be burned, and have not charity, it profiteth me nothing." (King James Version, 1 Corinthians 13: 1-3)

I don't want my faith, my hope, my love and my work for my son to go unrequited. I want my persistence to pay off in the form of a cure. The greatest of these is Charity. Nothing I pass down to my children will have a bigger impact. No holiday gift or symbol could possibly mean more. In fact, it doesn't matter how we translate it, whether we call our action "love" or "charity" as long as we take action. Charity is the way in which we bring all of our personal love, faith and hope into a public form. Charity is the sum of our virtues, embodied and working. Charity never faileth.

No one can do everything, but Everyone Can Do Something. Put your money and your time where your heart is.

Ivy Scherbarth is a Colorado/Wyoming FACES Coordinator for PPMD. Follow Ivy at her blog, Living Duchenne.

What action will you take in 2013?

Sign the pledge.

You are already natural advocates. You began advocating the day you received the diagnosis, or found out someone you cared about was affected by Duchenne. Advocacy takesmany forms. One of the most important ways is the interaction between citizens and those elected to represent them in Congress to change the status quo. For our community, we advocate in the hope of improving the lives of those you love by advancing research, improving care standards, and ensuring the proper resources exist to expedite treatments for Duchenne. A small group of Duchenne advocates have made such a tremendous difference in the lives of so many Duchenne patients and families by telling their stories to those who represent them in Congress.

The cornerstone of our advocacy efforts in Washington has been the MD-CARE Act. First passed in 2001, this banner legislation has been a pivotal piece of the successes we’ve had in advancing the fields of research and care. This bill laid the foundation for the successes we have seen in the last decade, and was reauthorized in 2008 after the community worked hard with members of Congress to ensure its passage.

Here is what has been yielded from our efforts:

• Over $400 million has gone into muscular dystrophy research, leveraging additional millions in private investment.
• Care Standards have been established and published and are in the process of being disseminated. These standards haveadded 10 years to the lives of those living with Duchenne.
• The MD STARnet program has yielded important data on incidence prevalence and burden of cost for those living with Duchenne.
• Six (rotating) cooperative MD research Centers of Excellence were established by the National Institutes of Health (NIH). The centers work individually and collaboratively. Each has both basic and clinical research projects, and one or more core facilities to support them.
• The public-private Muscular Dystrophy Coordinating Committee, established under the bill, has worked to expand, intensify, and coordinate research activities related to muscular dystrophy.

None of these accomplishments would be possible without the power of your voice. From constituents telling their stories to members of congress to advocating for more money for research, care, and improvements in regulatory processes – patientadvocacy has made a tremendous difference in the fight to end Duchenne. Over the last decade you spoke up and Congress listened. We must continue to raise our voices. We compete with so many others trying to be heard, and in order to remain on the radar of the federal government we must remain vigilant with a consistent message.

Take Action - Tell Congress to Reauthorize the MD-Care Act!

All authorizing legislation must be reauthorized every five years. We are embarking upon another reauthorization year for our bill and need your voice.

How can you help? We’ve put together a landing page that you can share with your family, friends, and neighbors—really anyone who cares about changing the course of Duchenne. Join us in Washington, Add your name to our packet drop, sign up for advocacy alerts – lend your voice to ours!

Please visit our Get Active page page to learn more how you can get involved.

In 2008, I spent some time with Ryan Lochte, who then was a six-time Olympic medalist with three gold, two silver and one bronze. Ryan, the swimming champion was in Washington as a champion of the re-authorization of the MD CARE Act. And he did just that, used his strength for Duchenne.

Friday is Ryan’s birthday. He’s already struck Olympic gold – the first gold medal for the US actually! – and in our hearts he will forever be a hero of this community. Help celebrate Ryan’s birthday by:

• Making a donation to his Go for the Gold fundraising page
• Texting JEAH to 90999 to make a $5 donation
• Leaving a thank you message on PPMD’s Facebook page. We’ll pass them on to Ryan on Friday.   

In a recent interview, Matt Lauer asked Ryan to write the headlines. Ryan smiled and said “Ryan Lochte takes over’.   I’m adding my voice to his – TAKE OVER RYAN, win the Gold. Thanks for making a difference in the world of swimming and in our world of Duchenne.

AVI and PPMD have a long history of working together to develop treatments that may help to prolong the lives of those living with Duchenne. We have always been grateful to the dedication AVI has shown to the Duchenne community as they continue to work on treatments that will help our sons live longer, stronger lives. Now they are taking that dedication a step further by lacing up their running shoes and pounding the streets of Seattle to help raise awareness and end Duchenne.

Participating alongside the AVI team are 20 other runners, includingConrad Reynoldson, a 25-year-old man living with Duchenne (pictured right). Conrad is the only person to have participated in the Rock 'n' Roll Seattle Marathon & Half Marathon in a power wheelchair. 2012 will mark his second year competing in the race.

"I am always looking for new and innovative ways to raise awareness and funds for PPMD as well as the broader disability community," said Conrad. "Last year when I heard that no one in a power chair had ever participated in this race, I realized this was a perfect opportunity."

The Run For Our Sons team fundraising goal for the Rock 'n' Roll Seattle Marathon & Half Marathon is $25,000.

"Perhaps over time Run For Our Sons can become Run With Our Sons as more of us adults and young men with Duchenne take charge of our futures," said Conrad.

Run For Our Sons began in 2005 with 80 runners at the Walt Disney World Marathon. Since then the program has grown to encompass most major marathons around the country, with hundreds of runners participating each year. Since its founding, the Run For Our Sons program has raised more than $6 million to fund PPMD's work.

Learn more

• Find a race near you or start a team
• Visit RunForOurSons.org for more information
• Read the press release

DuchenneConnect and Parent Project Muscular Dystrophy are proud to present the next in our ongoing Direct Access Webinar Series on Wednesday, April 25 at 1pm eastern.
 

• Topic: Results from DuchenneConnect Study
• When: Wednesday, April 25 at 1pm eastern

Have you ever wondered if anyone is examining all the data entered into DuchenneConnect? Would you like to hear the results from a study focusing on the registry data? If so, you must listen to the webinar on April 25 at 1pm eastern. Dr. Stanley Nelson, Professor of Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles, will be discussing his study of the DuchenneConnect data. His research focused on analyzing the registry data from the start of the registry in 2007 through June, 2011. His research team investigated several associations, including associations between corticosteroid use, supplement use, and ambulation, and they have some very interesting results to share.

To Participate

• Visit ReadyTalk.com and use participant code 9449985. (Be sure to test your computer beforehand)
• Audio Dial-In Information:
  • U.S. & Canada: Dial 866.740.1260 and use the Access Code 9449985
  • Outside the U.S. and Canada: Lookup your number
     

If you are unable to attend this webinar, a link will be provided and posted on our website afterwards that will allow you to download the entire presentation.

DuchenneConnect's Direct Access Webinar Series
DuchenneConnect's Direct Access Webinar Series allows you direct access to key figures in the fight to end Duchenne. Whether it's a researcher offering updates on a developing therapy, or industry providing clinical trial information, this series will be your resource to find out what is going on in the community from the people making it happen. Please continue to visitDuchenneConnect.org to learn about upcoming webinars.

I’m a fan of technology. Really. I love it that we are able to participate in meetings and conferences in real time, from anywhere in the world. It encourages, incentivizes, stimulates conversation on community and social networking sites. In fact, many of you streamed during our West Coast Connect Meeting on Saturday. But while all of that is fantastic, there is something significant about being there. Something happens when the community gathers. There is an exchange that occurs, science and medicine aside…the connecting part of the West Coast Connect Meeting.
 

You had to be present during the reception when a new mom walked tentatively into the room. It was pretty clear she was new, the diagnosis raw. She had that look in her eye, tears welling in the corners, the weight on her shoulders obvious. We have all been there. Within minutes, people gathered around her, introduced themselves, asked questions, listened and then gently and tenderly brought her into the room, introducing her to researchers, clinicians, and other families. Her shoulders relaxed and after a few minutes, there was a smile.
 

We have all said time and time again, that we wish we had never heard the word Duchenne. But there is a lining… bronze, silver, gold… call it what you will. The Duchenne community is a family and when members of the family gather, there is a synergy, a spirit of kind-heartedness, helpfulness, empathy, hope. There is something to be said about connecting, not only with the families, but with researchers, clinicians and industry partners. There is something transferred in the conversation, that is not captured on-line – the intense desire to change the predicted outcome, clarification on timelines, what we can do now, optimal medical care across the spectrum, trials in progress or in development…and hope.
 

We will be posting presentations from our West Coast Connect Meeting in the coming week. Thank you to everyone who attended, presented, and watched us online. We hope everyone who can will join us at the Annual Connect Conference in Fort Lauderdale on June 28 – July 1 for more great presentations, critical information, and connecting.

 

Pat Furlong, Founding President, CEO
Read more PPMD Staff Blogs

The Duchenne Box

by Pat Furlong

The Duchenne Box. The invisible pieces of our lives. The place where worries live, where the map of our life is designed, modified, changed, scaled up or down, the secrets hidden from others because they are impossible to explain, impossible for others to fully comprehend – the definition of Duchenne and all the strings that come along with it.  

We all have such a box. It lives somewhere in the depths of our soul, the place we go to every day, every moment, the place we live once the word Duchenne enters our house.  

There are days when the Duchenne box is impossible to conceal:  an arbitrary visit to school, the children all running and your son behind (by what feels like miles), the clinic visit where changes are discussed and your knees shake uncontrollably, the kind neighbor with 'how are you?' and the expected response 'I'm fine' when you aren't.

Life feels heavy carrying around the burden of Duchenne, trying to manage the ordinary things, regular things, the things of life that have to happen in order to get through the day: breakfast, lunch, dinner, snacks, groceries, laundry, shopping, homework, errands and all that's attached to those activities, caring for, caring about, taking time, playing, smiling, drying tears, tenderness, making peace.

And in fulfilling all of the needs and wants of life, trying to find a safe place to tuck away that Duchenne box now and again, that place in your heart and mind, where you are able to let it rest, hide it, if only for a few seconds or minutes.  Where you can see around or over the box and see the "sun," yourson that brightens your day – when he giggles for no reason at all, finds joy in a puddle left after a rainstorm, and loves with his whole heart.

Pat Furlong is the Founder and President of Parent Project Muscular Dystrophy. Follow Pat at her blog.

Getting It All Done

by Ivy Scherbarth

I know that it is not just me:

How is it that I cannot find time to take care of the basic needs of my family like grocery shopping, laundry, washing the dishes, and cleaning the house? How is it possible that I don't have time to do a five minute, once a week job like watering the plants? How is it possible to be this busy and yet still be constantly behindhand on everything I have to do?

In the old days, four years ago, before I knew the word Duchenne, I used to feel like I had plenty of time. I used to really believe in the virtues of taking a long view of things. I used to say, "Don't worry about this small thing that has happened to you. You could live to be 100 and you won't even remember this little disappointment." I used to expect to have grandchildren who would inherit the benefits of the hard work I do today. I was satisfied to be planting the seeds of great trees for them.

Time is not a thing I think of as being abundant anymore. I see our time as being sharply limited, horribly pinched by Duchenne. Nowadays, looking very far into the future means next month. I don't really expect to have any grandchildren. I don't want to think about living to be 100 because I don't want to think about how very many of those years will be after. You know,after, as in, you know.… I don't want to face a single minute of life on earth without my son being here to share in it! I am afraid to think about my kids growing up because nowadays I just don't have the old constant and unshakeable faith in that possible reality-- the reality where my son grows up and gets married and has kids of his own. A taking-the-future-for-granted life is over for me. I can't put a brave face on the deepest chambers of my heart so easily. And I can't just forget about all that angst and fear either. All I can do is kind of set it aside, in a special mental box labeled "Duchenne" and try to walk away from it for a while.

And that takes work. It takes time and energy and effort. You just can't see it happening from the outside. Moving on from the trauma of diagnosis is the kind of work that wears me out even though it is almost impossible to articulate why. Maybe trying to explain it is part of the reason it is so exhausting. It can be very hard to talk about the burden of the invisible, the deeply personal, and the cosmological. After the catastrophe of a Duchenne diagnosis, you have to reinvent the nature of the universe and the meaning of life for your new self. It can be very difficult to explain to an outsider why you're still having such a hard time pulling yourself together after years of working on it every day.

We are survivors of a completely invisible natural disaster. The moment of diagnosis is like the touch down of a tornado, destroying everything that sits directly in its path. Our dreams, our goals, our plans, our very selves are gone. But somehow it hasn't actually killed us, and so we have to find ways to rebuild. But rebuilding isn't quite it because we actually have to build anew. We are starting all over again from scratch. Like immigrants who have landed on a foreign shore, we have to learn a new language and customs, learn a new history, learn to advocate for ourselves, learn to accept ourselves as permanently separate or assimilate. Oh, and, I believe that I mentioned this important factor already? Our "immigration" process is completely secret because it all happens inside of our own heads. Our parents, childhood friends, neighbors, etc. have no idea that this has even happened to us unless it has also somehow happened to them. I cannot overstate the vast significance of the fact that no one can see what is happening inside of us. Somehow, having it be invisible makes the people around us, and even our own selves, want to dismiss it as insignificant. It's all in our heads, to be sure, but that doesn't mean it isn't really happening or somehow isn't very important.

That's an awful lot to think about while the business of life continues on around you, not only without pause, but in a horribly speeded up kind of way. Suddenly, we have a lot more incomprehensible draws on our precious time and energy while we simultaneously take on a tremendous amount of new practical work. We still have young children when we get the diagnosis. They didn't change at all. They still need us to reassure them and love them and tuck them in at night and make their lunches and remind them to put on a coat, for crying out loud. It makes me feel that not only am I Late(!) all the time but I am on the strictest and most horrible of literal deadlines. I have so much of the world to show to my son in so very, very little time! How can I give him the very best life when we all expect that life to be so short? And if you're like me, and feel compelled to finish your work before you play, the crisis of getting the groceries in becomes a reason to panic in itself. If I can't play with my son until I do the shopping and I can't shop until I write the list and I can't write the list until I have the mental space and I can't clear out the mental space until I have a solid cosmology and philosophical/spiritual basis for human existence in the face of Duchenne…!?!!

I feel like I am not only panicking, but I am also constantly distracted. Do people whose faith in God/life/reality remains steady in the face of Duchenne manage to get their houseplants watered before they are fatally desiccated? Are there people whose faith in God/life/reality remains steady in the face of Duchenne?

And what about those days when I just naturally wake up in the morning and I've somehow managed to get enough sleep and the sun is shining and I have nothing scheduled for the day and there are fresh strawberries waiting for my breakfast? Because those days happen too, just not as often as they used to. Those are days that take another kind of mental discipline altogether. Those are the days when our "Duchenne" box has to be shoved into a deeper, dustier corner in the attic of our minds. Those are days when we have to push ourselves to remember that our kids are still kids and they need us. Those are days when we have to make play a priority or we are robbing our children of what childhood is all about. Those are the days when we throw on some dirty clothes, pack the strawberries into a basket, squeeze our growing boy into the bike trailer and ride down to the river and sit under the new-leafed willows and get sand between our toes and in our sandwiches, and appear for a few hours in public to be relaxed, unhurried, and happy. If we're really lucky, we may actually even feel relaxed, unhurried, and happy for a while. Those are the days that we can give to our children as a gift, right now, wrapped in the ephemeral beauty and luxury of having plenty of time-- time to be, time to play, time to dream and grow, time to really live.

But then we have to come home again and make supper, and feed the cat, and wash the dishes, and bathe the kids, and throw a load of just underwear and socks into the washing machine (because we still haven't gotten the laundry done properly), and find the school lunch boxes, and look at the calendar, and write the grocery list, and be ready for the week to come, and collapse into bed at 10 or 11pm and hope against hope that we all wake up on Monday morning healthy and well rested enough to keep on keeping on the daily grind.

Looking at the calendar was in that list. What am I doing with my time besides worrying about the inchoate and ultimately unknowable? When I'm down at the river ignoring it all, just what am I taking a break from anyway? My calendar does not look like a cheerful Mother Goose rhyme, with a single task for each day (Monday wash, Tuesday iron, Wednesday mend, etc.) My calendar is full of things like doctor's appointments, PT, OT, swimming therapy, massage (for my Duchenne boy only-- never for me!), horseback riding therapy, marriage counselor, school psychologist. There's also all the "normal" stuff we do like work, school, music lessons, dance class, volunteer. And then there are those things that we just can't say no to doing just this once like look after my sister's pets for a few weeks while she's out of town, go to that informational evening about raising kids with disabilities, participate in that once-a-month friendly meet up group, spend a few minutes on a beloved hobby, attend that fundraiser for our local charity serving people with disabilities (they're serving us, after all), welcome a house guest for the weekend.

And then on top of those things, there are a few other projects we do relating to Duchenne. Do these sound familiar? Buy gear (like a wheelchair) and have it fitted for your son. Buy a van. Convert the van for accessibility. Design and build an accessible house or remodel an existing home. Move to the new, accessible house and/or live with construction guys in your remodel for 6 - 12 months. (Or, gasp, do the remodel, piecemeal, yourself!) Travel a couple of hours each way to the Neuromuscular Clinic 2 - 4 times a year. Participate in a clinical trial. Go to the PPMD Annual Conference. Organize and/or participate in at least one Run for Our Sons/Coach to Cure/MDA walkathon/Fill the Boot Campaign. Go to the PPMD Advocacy Conference. Lobby Congress. Participate in other fundraising events like wine tastings, golf tournaments, silent auctions. Go to FACES events. Nurse at least one child through major surgery and recovery, often more than one child and more than one surgery. Set up and/or update an IEP. Agitate for at least one public place you have to go to a lot to add accessibility features. Go on a Make-a-Wish trip. Make your own Make-a-Wish trip and go on that one too…

I'm not even going to write about our daily caregiving duties. Let's just discount for a minute all the time we spend with helping our sons get up, get dressed, get toileted, get clean, get stretched, get medicated, get fed. Let's not factor in how much time we spend organizing outside-of-the-family caregivers. Let's not even go into how long it takes to deal with irresponsible caregivers or gear that breaks down. And let's also put aside how much time we spend on researching DBMD issues or trying to find support on Facebook. And for pity's sake let's not talk about how much time we spend driving around town or who is looking after grandma.

So, how is it possible to be this busy and yet still be constantly behindhand on everything I have to do? Oh, wait. Maybe all that stuff we do because of Duchenne really is an unmanageable amount and I'm not just "mooning about" trying to figure out the meaning of life all the time. Maybe I'm in a panic because there really is too much going on.

Maybe this is the also partly the result of nothing feeling optional anymore. We used to talk about the differences between needs and wants; we could prioritize our lives to meet our needs and occasionally accommodate some of our wants. But with our Duchenne colored glasses on, we see all of the things we do as being necessary and essential, don't we? We are now in the untenable position of having to prioritize and make choices between needs and needs. Of course when everything is a need and our time and energies are limited, needs will slip through the cracks and go unmet. We are living our whole lives in crisis mode.

Different disability communities react to their situations in different ways. It is interesting to me to see that the DBMD trend is to grab life by the horns, hold on tight, and ride this monster to as many fun, exciting, life-affirming, and service oriented places we can make it go. This is a choice we are making as a community, this lifestyle of working and playing as hard as we can. I admire this choice in general but we could make other choices, and of course, some of us do. Maybe it is a matter of tweaking the schedule so that we can satisfy our need to make sense of it all, breathe, and then go get those groceries, not in a panic, but in a calm and efficient manner. Maybe, from time to time, we can make a quiet moment in which to contemplate. Or maybe sometimes it just all comes together in a great big mishmash, and we have one of those "aha" moments that give deeper meaning and a sense of belonging to our lives even in the midst of everything else that is going on. Maybe there's a reason why some grocery stores are open 24 hours a day and cactus makes such an attractive houseplant.

Ivy Scherbarth is a Colorado/Wyoming FACES Coordinator for PPMD. Follow Ivy at her blog, My Son, My Rain: A personal, biased account of one family living with Duchenne Muscular Dystrophy.

The FAST Act is consistent with the FDA proposal the PPMD board adopted earlier this year. As such, we are requesting that you – our advocates – contact your members of Congress and urge them to co-sponsor the FAST Act.

We have prepared an email template for you to send to Representatives and a phone script for additional follow-up.

Background

Introduced by Reps. Stearns (R-FL) and Towns (D-NY), FAST puts into law an "accelerated approval" pathway for drugs that are in clinical trials with FDA and that are targeted to serious and life-threatening conditions, like Duchenne, that lack existing treatment options. Among other things, the bill would enable drug sponsors to request that their drug receive Fast Track designation by the FDA, and it would provide greater flexibility in designing clinical trials involving rare disease population. Given the challenges in finding a sizeable population with Duchenne to design an effective trial, this proposal holds promise for the development of drugs to treat the disease.

Portions of the FAST Act are included in the House's draft version of the Prescription Drug User Fee Act (PDUFA). PPMD will advocate that the FAST Act remain in the final user fee package that passes the Congress.

Thank you for all of your hard work and for joining us in this important & simple action.

Let’s keep up the outstanding advocacy!

HACKENSACK, N.J., March 29, 2012 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) – the leading advocacy organization fighting to end Duchenne muscular dystrophy – has endorsed legislation that would shorten the amount of time the Food and Drug Administration (FDA) takes to review candidate therapies for life-threatening conditions like Duchenne that lack other treatment options.

(Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO)

The bill, known as the Faster Access to Specialized Treatments or FAST Act, is bipartisan legislation sponsored by Rep. Cliff Stearns of Florida and Rep. Edolphus Towns of New York.

"For 20 years, FDA has had tools at its disposal to accelerate the agency's review of therapies targeted to treat life-threatening conditions that lack any other therapeutic options. Unfortunately, these tools have not yielded optimal advances despite the significant need that exists for patients and families living with Duchenne and other conditions," Pat Furlong, Founding President and CEO of PPMD, said.

"The FAST Act is commonsense legislation that would leverage the Fast Track and Accelerated Review options at FDA's disposal. It would allow sponsors of candidate drugs to petition FDA to designate their product as being eligible for Fast Track review. It would also allow for approval of therapies on the condition of surrogate endpoints or intermediate markers used to gauge the trajectory of a disease," Furlong added.

Surrogate endpoints are a particularly important issue to the Duchenne community given the course of the disease and the need to more quickly determine whether or not a therapy is having its intended effect.

The legislation also seeks to more appropriately balance the benefits of a therapy with the potential risks. It would revoke accelerated approval if a sponsor fails to adequately study and monitor the therapy in patients or if further studies fail to verify clinical benefit.

"With nearly 20 potential therapies in clinical testing, it is a very exciting time for the Duchenne community, but a time in which we must make sure the FDA is equipped with the tools and laws it needs to evaluate these therapies as quickly as possible to save our sons," Furlong said.

"I commend Congressmen Stearns and Towns for introducing this legislation, and I urge other members to cosponsor it today so it can become law this year," she added.

The FAST Act is consistent with the FDA policy position the PPMD Board of Directors adopted earlier this year, that seeks to address critical issues impacting the Duchenne and rare disease communities. PPMD is evaluating other FDA-related legislative proposals and engaging with Members of Congress on issues unaddressed to date, including the importance of making sure the voices of rare disease patients are heard when critical decisions, such as those about clinical trial design and appropriate levels of benefit and risk, are being made.

About Duchenne
Duchenne, the most common form of childhood muscular dystrophy, is a progressive and fatal muscle disorder affecting boys and young men that causes the loss of muscle function, wheelchair dependency and a decline in respiratory and cardiac function. 

About Parent Project Muscular Dystrophy
Parent Project Muscular Dystrophy (PPMD) is a national not-for-profit organization founded in 1994 by parents of children with Duchenne and Becker muscular dystrophy.  Our mission is to end Duchenne. We accelerate research, raise our voices inWashington, demand optimal care for all young men, and educate the global community. PPMD is headquartered inMiddletown, Ohio with offices in Fort Lee, New Jersey.  For more information, visit www.ParentProjectMD.org.

SOURCE Parent Project Muscular Dystrophy

RELATED LINKS
http://www.parentprojectmd.org

Shortly after Michelle left for London, I decided I needed to learn about Bikram. Now, it is true, that if I decide to learn about something, I don’t stop until I feel convinced that I have learned what I needed to learn. My family and friends can attest to that fact as I often drive everyone to their wits end,  with my endless searches and questions. I started with the ‘Bikram class locator’, plugging in 45042, my zip code just for fun, assuring myself that there was no Bikram nearby.  I am convinced, sometimes the universe sends a message and there it was…. Cincinnati Bikram Yoga. Opened mid-December and just 35 minutes south.   

The next day I had a meeting at Cincinnati Children’s Hospital. I gathered my courage and decided that I would head to Bikram just after.  After all, I was in the neighborhood. How bad could it be? Just as the meeting was ending, I asked Kathi Kinnett about Bikram, assuring myself she would add to my long list of reasons against the idea.

And then THE BRIBE. Kathi offered to go with me, to help offset my worries about 30 year olds and bikinis. She agreed to partner the Bikram if I agreed to Conquer the Canyon. She agreed to call 911 if I fainted or worse. She agreed not to laugh if I was unable to do the first position.  She agreed to secrecy, never to talk about my first Bikram.  Without hesitation, I accepted the bribe, clearly used to bribes from raising my children.

For me, the first Bikram was a ‘near death’ experience. I attempted some of the poses, the heat taking its toll. For some of the poses, I sat, wishing the 90 minutes away. And strangely enough, after those first 90 minutes, I was hooked. There was something there, something that was helpful, something serene, something that I needed and something peaceful about those 90 minutes, staring in a mirror, attempting to stretch and balance all at the same time. The ‘universe’ was right. Silently and privately, I signed onto the Bikram and admittedly much less sure about fulfilling my part of the agreement, hiking the Canyon.

Why would I want to Conquer the Canyon? I had never been to the Grand Canyon, never thought about it really; my focus –Run for our Sons.  But… then, the Canyon is scheduled for  April, a month I both love and hate, always looking forward to signs of spring, but on the other side bittersweet. Jenny, Michelle, and Chris have April birthday 11, 14, and 27. Patrick died on April 29. The month is full of remembering: wonderful and tender moments, heartbreaking/gut wrenching moments, and each day recalling the day before or the day after moments, memories, and time. There are thoughts unspoken, unspeakable, about precious times filled with tears of sorrow, pride, and love. And as I thought about the Canyon and about April, I mentally committed to the bribe, to be on the team to Conquer the Canyon.  

Chris and Patrick would never see the Grand Canyon from earth, but I decided I would take this journey and with each step, paint each color, each view of the amazing landscape, the grandeur of the Canyon on my heart, and send it to heaven via the universe with love, with remembering,  with longing.  

It is April after all…Spring, a new beginning, as well as a time for remembering, a time to celebrate, a time to participate with others – actually a perfect time for this journey.

And as you might imagine, part of the deal is that I am raising money for research. I realize we all have precious few dollars to spare and decisions around donations are done thoughtfully, carefully, and with purpose. I’m asking for your help. I am asking you to support this journey. And I, in return, promise to Conquer the Canyon for every boy and every family where Duchenne, the uninvited visitor, has entered. 

I would be grateful, thankful, and thrilled if you would join our team. I can promise that every dollar you give will be leveraged to accelerate therapies and to change the predicted outcome for all of our sons. Because it is important, because it matters to me and I know to you. Duchenne is a complex multi-system condition and it will take all of us, together. 

Give what you can and if you are able. Send me your thoughts, your karma, your prayers, your silent commitment.  Let’s End Duchenne.

Steroids are a complicated story and have clearly changed the natural history of Duchenne. We know they work for some, for most in fact, but not all. We know they increase strength and prolong ambulation, and statistics back this up. Predicting ambulation is prolonged on average for 2+ years. But this is not the end of the story. Genetic modifiers have been identified that are thought to dramatically push out this timeline. Individuals with specific genetic modifiers continue walking into their mid- to late teens, often called outliers.
 

It is clear that steroids have changed the natural history and we cannot forget about the impact of night splints and aggressive stretching. We can mention supplements, though there is scant data which is largely anecdotal. And hopefully there has been a general change in attitude, less therapeutic nihilism today than 10 years back – a therapeutic dose of hope. Physicians are less likely, today, to say ‘no hope and no help’ and send us on our way.

The Right Regimen
Twenty-eight years of steroids, multiple publications, Cochrane Report, and significant unpublished data, and we still have no definitive answers about the RIGHT regimen and I’m guessing we never will. Some years back we surveyed families, inquiring about their son’s regimen and interestingly we learned about 20 or so regimens in our very informal survey.
 

They included:

• 10 days on and 10 days off
• Daily Prednisone 0.35mg/kg
• Daily Prednisone 0.75mg/kg
• Daily Deflazacort 0.9 mg/kg
• Alternate Day 0.75mg/kg
• High Dose Weekend 0.75mg/kg X 14, divided into 2 doses
• Low Dose Weekend 0.75mg/kg X 7, divided into 2 doses

And variations on the theme:

• 10 days on and 5 days off
• 10 days on and 2 days off
• Daily with changing dosage
• Random – modifications done along the way based on appetite (PM rather than AM dosing), behavior (every other day during the week, 2 consecutive days of the weekend)

There will never be the perfect regimen that is best for all of the boys. Is there such a thing as the average boy with Duchenne? With genetic diagnosis and hopefully soon, expanded knowledge about genetic modifiers, we may have a more informed ways to discuss steroids. At the end of the day, it is up to the family, the individual, and the clinical team to discuss what makes most sense. Keep in mind, medicine is personalized. And one day, we are all hopeful to have a replacement... something that improves strength with fewer side effects.
 

Spectrum of Responses
Over the last 20 years, I have met more than 1,000 boys with Duchenne, most of them on steroids. For me, they fall into specific subsets.
 

1. No response to steroids – this is the minority, but there are clearly non-responders.
2. Increase in strength accompanied by severe changes in behavior, which do not lessen over time.
3. Increase in strength but dramatic increase in weight (insulin resistance, glycemic diet currently recommended by some clinics)
4. Increase in strength accompanied by changes in behavior (easier to push their buttons)
5. Dramatic increase in strength, nearly a Becker like phenotype.

Of course, it is important to keep in mind, this is a spectrum, with the lines blurring on each end. But, if you speak with parents you might hear these common themes.
 

When to Start? What Dose?
And there is the ‘when to start steroids’ dilemma. There are some physicians who suggest that starting early (say 3 or 4 years old) minimizes behavior side effects. This may be true, but the side effects after 5-10 years old are pretty obvious and for some boys and their families, really hard to deal with.
 

Other physicians suggest starting steroids when the boys plateau and some, with signs of decline. The argument from the other side, is that the best medicine is preventative, initiating therapy to prevent decline.
 

Still others suggest that the boys start steroids when the parents are ready, having fully weighed risk and benefit.
 

And there is the dose issue. Some physicians initiate therapy with 0.75mg/kg (or 0.9mg/kg Deflazacort) and never adjust the dose as the individual changes in height and weight. Others initiate therapy and adjust (increase) the dose over time as height and weight changes and consider 30-35mg/steroid day as the maximum permissible dose.
 

Continued Discussion
Whatever the decision, the discussion continues – each visit, each year – evaluating benefit and risk and potentially modifying the plan.
 

While there are suggested regimens and regimens favored by certain clinics, sometimes the side effects dictate that a change is necessary. This is where clinical judgment comes into play. Families must discuss their concerns with their physician, weighing benefit and risk, altering regimens and timing of the dose (from AM to PM).
 

Steroids will hopefully be replaced in the near future with something better, more predictable, less toxic. But for today, there is no easy or simple solution as all boys need and deserve personalized medicine.
 

Steroids are complicated. And it is important to remember, you know your son best. Consult with physicians, experts, other families in the community, and then make the decision as a family.

This video expresses loads of things, but one thing in particular, is that the view is still beautiful, even if you are carried.
 

 
I hope you’ll join me as we Conquer the Canyon to End Duchenne, April 20-23, 2012.