Boys with Duchenne need experts to care for them. While many patients are seen in clinics far from home, it is essential that the Duchenne expert is communicating with your primary care physician. Duchenne is complex and your son is likely to be the only child with Duchenne in his/her practice. As parents, we are the advocates for our sons and often that means we are the ones to insist on clear communication and immediate access to our son's Duchenne physicians in case of emergency. If your son complains of pain or if you see something that is 'not exactly right,' seek help immediately.

Check out Nick Catlin's Blog from Action Duchenne in the UK

I have been concentrating on Reauthorization of the MD-CARE Act, actually forgetting about the New Directions in Biology and Disease meeting in New Orleans. The Reauthorization is moving, though it is now important to go back to our champions in the House and Senate to thank them for their help and solicit advice to accelerate the process. To date, we have been meeting with more than 50 members of Congress Health LA (legislative assistants), members of the House Energy and Congress Committee (Committee of Jurisdiction), and Senate HELP committee.

Anyway, April is always a difficult month for me, bittersweet, filled with tears and joy all mixed together. Jenny’s birthday is April 11, she is 34. Chris’s birthday is April 14. He should be celebrating # 30. My mother-in-law died on April 18. Jenny is engaged as of April 26 to Kris Johnson, and we are all thrilled. Michelle’s birthday is April 27, she is 32. Michelle spent her birthday in Singapore in meetings. The April graph of joy and sorrow feels a bit like a trampoline.

The New Orleans Conference was amazing. It was a bit overwhelming to see and hear the collective brainpower in that room. The complexity of the muscular dystrophies is fascinating from a research perspective and heartbreaking at the other end, as we (parents/families/friends) observe the effect on muscle and function.

PPMD has supported this conference from its inception six years ago. This is the third New Directions conference. It is an outgrowth of the MD-CARE Act and perhaps the most significant conference on skeletal muscle biology in the world. In a certain sense, it is a temperature gauge, marking where we are at this place in time, identifying specific areas of promise, and the discovery of new pathways and new opportunities for research, drug development, and clinical trials on the horizon. It lays out a path of where we are going, what trials are on the forefront, what obstacles we need to think about as we move forward, and describes, in exquisite detail, the field of muscle research that is rapidly moving forward. It is designed to lay out potential treatments – that ‘magic in a bottle’, the small molecule or drug or chemistry that will assure us there is an end to the progression of Duchenne.

This conference is research driven, a bit different from the PPMD Annual Conference in that the discussions are highly scientific, discussing pathways and molecular structures, and always serves to remind me how intricate the human body is and how amazing that it works.

This year, the conference covered:
o Micro RNAs and their interaction – a perfectly synchronized orchestra of interactions and connections.
o Gene expression – the ability to understand what genes are over- or under-expressed in Duchenne and across disease states.
o How different genes expressed, up- or down-regulated and what we can learn from looking at a specific disease, as well as, looking across a spectrum of diseases.

I am enamored by the sheer brainpower of the room, the commitment, the dedication, the willingness to discuss and debate openly and honestly a given approach and how they might see this moving in the future.

In review –

1. Roles of Dystrophin:
Mechanical – transmit force from the contractile apparatus to the connective tissue/tendon.
Organizer – positions a number of proteins at the muscle membrane (nNos, ion channels, etc).
Signaling – plays a number of signaling roles, including a key role in calcium homeostasis.

2. Why is the muscle damaged when dystrophin is missing? Disruption of Calcium Homeostasis – Contractions (especially eccentric contractions such as walking up stairs, etc) cause the rupture of the muscle membrane which allows calcium inflow. There may also be increased flux through ion channels. Excessive calcium activates breakdown of muscle (via calpain and other proteases) and may trigger a cell death program. Cell death triggers an inflammatory response. Activation of the fibroblasts can lead to fibrosis which interferes with muscle regeneration.

3. What are the current recommended therapies in Duchenne? Steroids (Prednisone/Deflazacort), Idebenone*, Ace Inhibitors, and Beta Blockers.

*CoQ10 is not easily absorbed. Think of Idebenone as a second generation compound – better absorbed and more stable than CoQ10 with equal protection of the heart.

4. What is on the near horizon? Drugs that cause read-through of a nonsense codon (PTC124); chemistries that alter RNA splicing (Antisense oligonucleoties – AON or Exon skipping); therapeutic trials with protease inhibitors; drugs that decrease fibrosis; drugs to promote muscle repair and decrease damage; and drugs/biologicals that will increase the amount of Utrophin.

Drug Development with validated targets – Utrophin, Myostatin inhibition, IGF-1, Integrin, Serca 2A (cardiac specific), and potentially additional targets such as Sarcospan.

5. Anything else?
o RNA manipulation
o Viral directed exon skipping (U7-snRNA)

o Gene Replacement Therapy
o Stem Cells
o Mesantgioblasts
o Mesenchymal stem cells
o Bone Marrow derived (SP cells**)
o Muscle derived (SP cells**)

**SP cells arise from somites – transient blocks of tissue in the embryo that give rise to muscle, vertebrae, and the inner layer of skin cells called the dermis.

o Barriers to stem cell therapy involve delivery, cell fate, and expansion of the cells without losing their potential. Delivery of stem cells to every muscle of the body is a daunting task and one that has not been overcome in any animal model.

o Cell fate – Since environment instructs the cells, there is a question about the timing of the therapy. Will the therapy only work in early disease and what will the fate of cells that end up in tissue that is not muscle? Also, growing (expanding) sufficient stem cells and insuring that the cells will not lose their potential for rescue/regeneration remains a critical factor.

o Viral delivery of a truncated (micro/mini) dystrophin
o AAV/micro dystrophin or micro utrophin
o AAV/α-sarcoglycan
o AAV/γ-sarcoglycan

Barriers are coming down with regard to production of sufficient AAV, though other issues remain. They include the possibility of an immune response to the virus (viral vector) and clinical protocols will need to include immune suppression protocols. There is expressed concern about systemic delivery and the need to utilize muscle specific promoters to increase safety.

Finally, it is important to determine the functionality of micro dystrophins or micro utrophin in order to deliver the most efficient/functional protein as we approach viral mediated therapies.

When my sons were diagnosed, I wanted to protect them, insulate them from too much knowledge about their disease, from anyone saying the ‘wrong thing’, from kids (and adults) who have not developed a filter between their brain and their mouth. I called Duchenne every name in the book but Duchenne. I called it ‘weak muscles’, ‘tired muscles’. My parents referred to Duchenne as “the problem” and to this very day my 91-year old mother will ask the question “do they have a child with the problem?” It still makes me nearly insane when she says it. I want to scream – call it Duchenne damn it. It is an elephant that sits in the room, on the table, in the car. This elephant is present at every family gathering and every holiday. It sits on my desk and often feels like my shadow. I’ve talked about this before and I think about it a lot, certainly each time I hear someone refer to IT as “the problem.”

I completely understand the need to protect our children and to this day, I would like my daughters to check in with me each day, tell me where they are going and who they will be spending time with, and call ME if they need something… anything. They don’t. OK, OK they are no longer children. They are 31 and 33, but our children are our children forever, right? And I realize the conversation is much more difficult because we are talking about young children who are fragile and breakable.

Boys (and some girls) with Duchenne are going to grow up, have careers, and make choices and decisions. They will need to be independent and the only way to achieve independence is to start the process when they are young. It is a learning process. There is no wand, that at a certain age, we wave and they are infused with independence. If it is not encouraged from the start, it will not develop. And we have every reason in the world to make excuses about why and how WE should be their impenetrable shield. But we cannot expect that we can protect them from every harsh word, every piece of information, every hurtful thing, even if we keep them isolated at home. There is no protective bubble that is able to cover a lifetime. And what if (God forbid) you become ill? What then? Should our boys be treated so delicately?

Mothers are guilty of overprotection. I think it is a commandment, written somewhere or handed down in some ancient text. Or do we have some need to make ourselves irreplaceable? Are we trying so hard to make believe life is perfect that we stifle our sons - we stifle ourselves – in the process?

Last year we worked with Cincinnati Children’s to develop a focus group. We separated adolescents from young adults. Moms were in another room, separated into ‘mom groups’ by the age of their son. The conversations were interesting. The boys were happy, loved school, could say the word Duchenne out loud, no tears, just matter of fact. Their conversations concentrated on things they enjoyed, weekend activities, sports…regular stuff. The moms expressed worry, fear, and talked about the future. They seemed to know everything about their boys and were their self appointed spokesperson. The moms were consumed with Duchenne. Duchenne invaded every thought. They felt guilty and overwhelmed with the heavy weight they were carrying. Most expressed the desire for time away and immediately said they felt immensely guilty about having such a need.

They talked about the fact that they were the sole caregiver. That their partner (husband, boyfriend, significant other) was either not around, did not know what to do or how to do it, or did not seem to care enough. I remember feeling this way.

Several weeks ago, I was speaking with the father of a 16-year old son. He told me that his wife was the only one who could care for his son – no one else was needed or wanted. He had been shut out so many times, he no longer tried.

This is just food for thought. As mothers, our goal is to protect our children. If they were trees in a forest, we would be sitting up so close, we might only have a view of the bark, but we assure ourselves we have totally covered our young sapling so that nothing, not sun, rain or wind, will threaten his existence. We are the single source of his information, his needs, his wants, and his desires. We know this young sprout so well, that we are capable of predicting what he needs and when he needs it, better than anyone.

So my questions are simply food for thought. Please do not view them as criticism, indeed they are simply reflections of things I experienced in my desire to protect my boys (and girls). Looking back, I often worry that we all might have been better off if my beautiful boys were encouraged to be more self-confident and self-assured. I guess I will always wonder.

Would the boys benefit from knowing the name of their illness? To be honest, I think I was the one who could not say Duchenne out loud without crying.

Would they benefit from being able to talk about their illness with others – siblings, peers, parents, extended family?

Are we willing to say the word Duchenne out in public? In our home?

Do the boys really understand more than we realize and actually protect US?

Do we encourage social isolation and dependence by becoming the sole caregiver? Are we able to ASK others for help with caregiving and refrain from criticizing about variations in methods? Do we think it is too much trouble to ask others to help because we have to provide some guidance and that will take time, too much time, and they will probably do it wrong anyway?

Are we using our primary caregiver status as an excuse to hide from others or cut off other relationships?

Do we take over conversations? In the doctor’s office? At restaurants? At school?

Are we really able to shut out the world and do we really want to?

Do we feel guilty (like we have nothing to add to the conversation) or jealous when friends/family discuss holidays, sports, healthy children?

It is frustrating, I realize, to have to explain Duchenne, to have to explain why your son cannot keep up, why the scooter, why the wheelchair. It is horribly frustrating when the first words out of someone’s mouth are to compare Duchenne to MS or to someone else’s child who has some other condition. It is enough to make you crazy, when someone says “I know just how you feel” and you know they don’t have a clue. You want to scream something horrible and run when that happens. Sometimes it is just feels easier to hide.

Duchenne is changing. Individuals with Duchenne (our sons and some daughters) will grow up, will go to college, will have careers, and will have relationships. Expect it and prepare for it by trying your best to roll back the protection. Sun, Wind, and Rain are all essential for growth and so are our experiences – bad ones, awkward ones, heartbreaking ones. If you try, I think you will also find other experiences – wonderful, tender, happy, and some bittersweet. Hopefully those good experiences will begin to outnumber the hard ones.

Covering your young tree might seem useful, easier somehow, but it will not prevent difficult days. It will imprison you, your son, and your family. You might find uncovering the tree may open up your eyes to a beautiful forest.

Participants
Utah – Bob Weiss, Kevin Flanigan, Payem Soltanzadeh, Neo May
Emory – Andy Faucett, Madhuri Hedge, Ken Loud, Vanessa Miller, Madhuri Hegde
Hospital for Sick Children – Canada Peter Ray
Treat NMD – Sarah Baumeister
PPMD – Giovanna Spinella, Pat Furlong
PPMD Canada – Kelly Lail

Treat NMD registry in an international database that includes more than 20 registries around the world, with www.duchenneconnect.org as one of the participating patient self-report registry partners. The goal of the database is to identify patients for participation in clinical trials.

Once registered on www.duchenneconnect.org, a downloadable summary page will be available to patients/families containing information related to optimal care for discussion with physicians/health care professionals.

The purpose of this global database is expected to be the ‘one stop’ for data access and for access to and participation in clinical studies on the horizon. Potential industrial partners would apply for access to these data. They would receive a response within 14 days, but must have IRB and an ethics board in place.

When to retest? Genetic testing is complex. In recent years, testing methods have changed dramatically and we now have the ability to understand a great deal more about specific mutations. While we cannot draw a line in the sand about testing and suggest that genetic testing that was done a certain number of years ago or a specific method of testing was incomplete, it is important for patients/families to recognize that if there is a clinical diagnosis of Duchenne, a mutation should be identified. This means, if genetic testing for you or your child was done some time ago and no mutation was found, it is important to consider retesting. New testing methodologies (CHIP/SACIP) are currently able to identify nearly 100% of all mutations. It is also important to understand that testing WILL NOT change the clinical diagnosis, but it is important in terms of entry criteria for international databases, as well as some, clinical trials. MDA has announced a genotyping campaign. This means they will cover expenses related to testing if insurance will not cover. If you have questions about testing, if your son has not had any testing, or if your son needs retesting, register on www.duchenneconnect.org and connect with online genetic counseling services and discuss whether repeat testing is necessary.

It is more than frustrating to hear about something, something that may help and then nothing. You wait and wait, each day looking at your son, wondering if there is something, anything out there, that may be useful.

For several years, there was talk about a compound referred to as Myodur and then all discussion stopped and Myodur dropped off the face of the earth.

Here’s how all this started and how it has evolved over time.

PPMD is dedicated to finding orally available compounds that would slow or halt muscle degeneration. We have been interested in and supporting the investigation of protease inhibitors since 1999.

In 1999, PPMD met with Alfred Stracher, MD. Dr. Stracher had been investigating a protease inhibitor called Leupeptin. In order to improve the effect of Leupeptin, he combined Leupeptin with L-Carnitine, which was eventually referred to as Myodur.

As we began to think about this project, we discussed the need to expand the investigation and compare a number of protease inhibitors to include Stracher’s leupeptin/L-carnitine, as well as, a compound called the Bowman Birk Inhibitor Compound (BBI -C).

With the goal of clinical trial – should we find a significant effect from the investigation – Dr. Stracher partnered with Ceptor. Ceptor began the process of moving Myodur into clinical studies. Unfortunately, animal data suggested Myodur was not effective and the company was unable to get sufficient funding to continue.

That is the bad news. But the good news is that the BBI Compound data was impressive. Data suggested benefit in the mdx mouse. PPMD continued support for the investigation of protease inhibitors, concentrating our efforts on BBI. BBI has been in clinical studies (NIH) in oral cancers. There were no adverse effects. The National Cancer Institute provided the compound for the study and agreed to provide it for a clinical study, but their supply was limited and we needed to establish a supplier, should the clinical study be successful.

BBI is a soy based compound. A company called Solae produced the BBI in collaboration with another company, DuPont. It was at first considered a nutritional supplement, but the FDA ruled that it would need to be considered a ‘drug’. The companies made the decision not to go forward because of the expense involved because of the reclassification of the compound.

That did not stop us. We partnered with PTC to investigate the patent issues and search for a supplier. To make a very long story short, in collaboration with Charley’s Fund, Nash Avery Foundation and the Jett Foundation, another supplement has been identified and tested for BBI activity. HAELAN951 has significant BBI activity, but without a clinical study, we will not know the best way to dose it. It is also very expensive and it will be difficult to get insurance coverage to offset its high cost. PPMD’s and the other foundations’ support for testing and moving forward continues, and our next step will be a clinical study.

FYI – in case you have forgotten those very complicated slides from conferences, here is how protease inhibitors work: Calpain is a primary protease that degrades skeletal muscle. The x-linked gene defect in muscular dystrophy causes an insufficiency of dystrophin leading to poor muscle cell membrane integrity, which allows for abnormal calpain up regulation due to extracellular calcium ion activation.

Calpain exists in every cell of the body and is a protease that degrades cells naturally in a normal metabolic process. When calpain is abnormally up regulated, the cellular degradation process breaks down cells and tissues faster than they can be restored, which is what happens in Duchenne.

The goal is to identify orally available compounds that slow or halt muscle degeneration. The overall goal is to identify compound(s) that have the same (or greater) benefit of steroids, but with lesser side effects. We think a BBI compound may be one piece of the puzzle.

We are working with a number of others to bring this forward.

Please stay tuned.

In honor of the late Senator Paul Wellstone, the title of this legislation is called the Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2008.

The history of this legislation is amazing. The Muscular Dystrophy Community Assistance, Research and Education Act of 2001 (the MD-CARE Act, P.L. 107-84) changed the face of muscular dystrophy, increasing investment in muscle disease throughout federal agencies, attracted industry, and positively impacted care.

The MD-CARE Act specified a number of provisions for expanding and intensifying research on muscular dystrophy. The original authorization had 310 House cosponsors, 46 Senate cosponsors, not a single vote was cast against it, and the bill was signed into law a mere 10 months after introduction. We are hopeful that this reauthorization bill will receive similar support and look to all of you to connect with your representatives about the importance of this legislation.

When the MD-CARE act was signed into law in 2001, we could not have predicted the widespread impact, the relevance of research findings, or imagined that we could get so far in such a short period of time. Six years later, we stand at the forefront of real possibilities for our sons, and hopefully soon, a day when treatments are available. Together, we will work to end Duchenne.

We are deeply grateful to the F.E.D, Nash-Avery Foundation, Charley’s Fund, and Cure Duchenne for their support of our work with Cornerstone.

First off Treat-NMD is primarily supported by the European Union, better known as the EU. It is a broad collaborative program designed to advance treatments and cures for neuromuscular disorders. They are first concentrating on Duchenne and SMA because there is a general belief and sufficient scientific evidence to suggest that promising treatments are on the horizon.

Treat-NMD is a developing clinical trial network within Europe. We are working to parallel this effort in the US with the goal of a global network. You might be thinking, why all this when treatments are on the horizon? Why can’t we simply organize a few sites for clinical trials, test the strategy, hope it works – prove that whatever we are trying has benefit (which is no simple matter by the way), get the therapy approved, and close the door on Duchenne? I wish it was that simple.

Consider Treat-NMD as an assembly line in a factory and this ‘factory’ has all the machinery to evaluate a certain strategy, move it through the required machinery, and once the process is complete, the ability to conduct clinical trials. This assembly line, while not very sexy, is essential to facilitate and accelerate treatments for Duchenne.

What are the components of Treat-NMD, this new ‘factory’ for Duchenne?

1. TNCC – This is the Treat-NMD coordinating Center. This is the nuts and bolts or administration of the system. TNCC will be the virtual manager of Treat-NMD and work to insure sufficient money is pumped into the system to continue momentum.
2. Centers of Excellence – These are individual machines, core centers where extensive expertise exists in research and clinical care (think Wellstone Centers in the US). To date, in Europe there are 85 participating centers.
3. Shared Resources – These are raw materials. This refers to animal models, genetic/genome analysis, facilities, protein analysis, culture facilities stem cell biology facilities, bioinformatics, and patient databases. (Wellstone centers in the US utilize shared resources)
4. Production, Toxicology, Safety, and Delivery of Therapeutics (product safety) – This group will standardize procedures for production, GLP bio-distribution, and safety of therapeutic agents. They are currently concentrating on AON and viral vectors.
5. Clinical Trials Coordination Center (quality assurance) – This center will design and implement infrastructure to conduct comparable clinical trials. This group interacts with regulatory agencies in order to overcome regulatory hurdles and has easy access to all those centers with the capability to perform clinical trials. Keep in mind, not all Centers of Excellence will be able to perform clinical trials. Some of the Centers of Excellence will focus on research. (The same is true for the US Wellstone Centers)
a. Outcome Measures. This is a tough one. How to determine or prove benefit. They will evaluate current outcome measures and work to identify and validate primary and secondary outcome measures in DUCHENNE. This will include reviewing methods for evaluating and measuring the upper body to insure participation of both ambulatory and non-ambulatory boys
b. Standards of Care. Developing best practice guidelines and implementing those guidelines across sites. Treat-NMD is working with CDC to facilitate these ‘standards’ or guidelines internationally. This is fundamental to identifying/measuring benefit.
6. Extension of the network to include Industry, patient organizations, researchers, and clinicians with the goal of implementing cutting edge therapeutics developments. This is the outreach to consumers (patients) and clients (industry)
7. Human Resources – Maintenance
a. Training staff – educating researchers and healthcare professionals to insure consistency and quality.
8. Advertising – spreading the word to physicians, industry, and patients in order to: identify patients, make early and accurate diagnosis, and provide access to genetic testing, standards of care, and treatments.
9. Ethics – Ensuring Truth in Advertising. Exploring stakeholders concern, ensuring all patients have access to treatment, are treated equally, and are able to participate in clinical trials..

Putting the pieces together in a systematic way is essential. Treat-NMD exists to eliminate fragmentation in the neuromuscular field by harmonizing research efforts across the community from basic research to the development of new and cutting edge therapies and treatments for our sons. In the US, thanks to our champions in Congress and your advocacy, we are working to mirror Treat-NMD, thus connecting to this global network. In order to demonstrate something works to the regulatory agencies, we will need a significant number of boys to participate. The upcoming PTC 124 trial will involve 165 boys at 26 different sites. This is no small task, but at the end of the day, we have our fingers crossed and pray that PTC 124 becomes the first treatment for a subset of boys and that this trial builds the expressway to facilitate other promising trials.

This year I ran the ½ marathon at Disney . You know how you have a certain thought in your head and the next thing you know, you say something out loud, that at that very moment makes sense? Then, just as soon as those words escape your mouth, you want to catch them and take them back? Those words “I’ll run next year” escaped from my mouth just after the celebration dinner at the 2007 marathon. I was not drinking, but I do admit to some euphoria at this celebration of our families. Endorphins probably, but I wondered if those same endorphins would show up as I crossed the start line and sustain me until the end. Ok, Ok, I realize millions of people run marathons. I was not so different, but then again, I did have significant reason to doubt. At 61, I had never run a marathon. Hell, I had never run a mile. I do walk and I hoped this might be one thing in my favor.

I worked out the details in my head. I decided to start training a minimum of 4 days a week. It was Spring 2007. I had a lot of time to prepare. The moment dinner was over, I headed out, iPod loaded and Tina Turner singing in my ear. I ran for the first five minutes, quickly running out of steam, and power walked for the next hour or so, walking approximately four miles a night. Four miles is a far cry from 13.1 and I quickly realized I would have to run more, walk faster, and cover more than four miles. Fall came and with it, my travel increased. In my head I made plans to use the hotel treadmills to continue my training. I did occasionally, but I had any number of excuses why the treadmill idea did not fly. Fundamentally, I find the treadmill boring and the concept of walking and going nowhere seems somehow unacceptable.

The Disney marathon is the first weekend in January following the holidays. January 12, 2008 was the ½ marathon and the date resonated in my head like a broken record (or a scratched cd). During Thanksgiving, I increased my training, walking five to six miles maybe three days a week. I was strength training, taking Pilates, and run/walking five to six miles. It did not seem sufficient to complete a 13.1 mile run. Each time I drove somewhere, I tracked mileage. How far was 13.1 really? Pretty damn far I realized.

I argued the commitment in my head. I developed a long list of excuses why I would not run to include:

o Too dark after work
o Travel
o Caring for the Goldens ( 91-year old mother and 95-year old mother-in-law live with me)
o Holidays
o Needed to be part of the cheering section
o Too old to start
o Lack of training
o Lack of endurance
o Threat of the Disney bus picking me up
o Failure

On the other hand I had a list of reasons why I wanted to run:

o For my sons and daughters
o A commitment to take all the steps Chris and Patrick were denied
o Because many people agreed to support my run
o To live up to expectations
o Because many people believed in me and were cheering for me
o To encourage novices like myself to try
o To suggest that it is never too late to participate
o To suggest that participation matters
o To convince myself that I had it in me
o To start something new

The day before the race I called Tom Neupauer, discussing my lack of training, hoping he would say I should not run. He thought I could make it if I would conserve energy and stay consistent. Just before the race I told Kimberly, I was unsure. I woke that morning at 3 AM and the excuses why I should not run were flashing in my head like a neon sign. I started coughing and decided I was getting the flu, and should not run. I left the room, found Ryan, and got on the bus. There was no turning back. I was caught in the excitement, the sense that we were all in this together. I felt the energy of the 22,000 people. The excitement was palpable. Thank God for endorphins!!

The stories about why people run in this event, the promise to an organization or individual, the commitment to help, were shared while we waited in corrals to start. John Killian, Ryan Fischer, and I became a team. I was the weak link, but they tracked the time, often reminding me of the need to increase my speed. They also periodically threatened me with the Disney bus! The hours and miles passed quickly. Mile 11, Mile 12 and suddenly the end was in sight. Success! I became a runner, ok a walker, but someone who can and did complete a ½ marathon.

Claudia Hirawatt was right about the marathon. She said it was better and more fun than her wedding. My training (ok, so it could have been better) and completing the marathon inspired me and convinced me that we are powerful when we work together and we are and will continue to work toward our goal: to EnDuchenne.

Elizabeth held the first European Duchenne conference in Rotterdam in 1997. Eric Hoffman was one of the speakers and while in Rotterdam he visited the University of Leiden and met a young PhD, Judith VanDeutekom. Elizabeth agreed to provide fellowship support for Judith to work with the group at the DMDRC. Judith spent a year in Pittsburgh and following, returned to Leiden to continue her work.

In 1998 DPP and advisors reviewed Judith’s proposal on antisense oligonucleotides or exon skipping. The proposal reviewed well. This strategy was not new, but rather was under investigation in a number of other areas, just not DMD. The advisors were positive about the work and DPP provided support. This support continued for the next 9 years. Exon skipping worked in the mdx mouse. Judith developed a mouse with human DNA to further investigate the approach. She was positive about the approach. We were all thrilled, though we knew it would take time to translate.

DPP continued to underpin this work. As Judith thought about moving from bench research into the clinic, she recognized the need to partner with Industry. The Dutch company Prosensa and Judith seemed a good fit. DPP was already onboard and expanded their support to include Prosensa. Elizabeth reached out to her sister organizations –Germany (Aktion Benny & Co), Italy (DPP), USA (PPMD), and Monaco – and expanded support for the project.

The DPP investment in development and translation of exon 51 is more than $4 million. Without Elizabeth and DPP, exon 51 skip and this technology may still be in the lab. The New England Journal article confirmed proof of concept in man. The New York Times, on December 27, suggested exon skipping has the potential to become a treatment for a subset of boys with DMD.

Parents can indeed change the world. We are willing to invest in solid research, think outside the box, and stay the course. It is all about building together and buying a lifetime.

Happy New Year!

Genetic modifiers influence or change the predicted course. This may be a bad example, but it is the only one I can come up with at the moment…

The Cincinnati Bengals (a football team) are a mess – bad defense, slow offense, star players arrested, and bad management. No one is predicting a Super Bowl in their future. I assume the Bengals know the game of football so their ‘football’ genetics are in place. Hopefully they map out their strategy, their plays, and, with some luck, they have been in training and attend practice. But they are losing. If Cincinnati recruits different players, changes management, and instills some sort of understanding for the law, maybe things would change. These changes, these sorts of “genetic modifiers,” would positively impact what happens over time. In short, the Bengals could benefit from a few genetic modifiers of their own.

The diagnosis of Duchenne often arrives with a prediction about what to expect and what you should expect to see in the not too distant future. I actually have never understood why some physicians are so interested in “fortune telling”; how they think they are able to describe, in exact detail, what the future holds and in this case, what your son’s future will look like. I often hear the same horror story from parents/family members. You know the one because it will echo in your brain forever – A parent is told, “Your son has Duchenne muscular dystrophy. It follows a predicted course. He will stop walking…” and ends with the phrase “nothing to do.” It makes me cringe.

I realize at that very moment, as your heart is shredding cell by cell, you are not actually in a position to respond or even speak a sensible word. A fitting response is impossible at that moment and no one would want to repeat this day just to figure it out. And when I hear these stories, I feel an intense desire to grab that physician by the throat and ask if he/she has some sort of a crystal ball or some sort of need to make sure the family ‘accepts’ the diagnosis. No one can predict the future, even in Duchenne, and isn’t the diagnosis enough information for one day? (Okay, step down from your soapbox Furlong!)

On a certain level (in business speak, you might hear something about the 60,000 foot level), Duchenne might be predictable. From that very high platform (and it is pretty frightening to look down when you are up that high), one might suggest that boys with Duchenne are diagnosed between the ages of 2 and 7, that they stop walking somewhere in the range of 8-15 years of age, and that Duchenne is lethal at some point, but it is variable. Even at 60,000 foot, there is a great deal of variability. It is like saying all the trees in the forest are the same just because they have roots, a trunk, branches, and leaves. It’s just not true and identifying some of those differences, figuring out why differences exist, will enable us to improve care, and provide targets for new therapies.

Close up, Duchenne is highly variable. You are probably intensely aware of this fact. Just connect with another parent who has a son the same age and with the same genetic mutation. It will become quite apparent that there are significant differences:
o Why one individual appeared to have normal muscle function with perhaps only speech delay at diagnosis.
o Why one can jump with both feet off the ground or ride a bike and another could never manage this feat.
o Why one has certain behaviors and/or significant cognitive issues, others are straight-A students without any apparent learning issues, and why another has the diagnosis of autism and Duchenne.
o Why some are walking just fine but have significant arm weakness and why others’ arms are quite strong, but struggle with fine motor control.
o Why some have accompanying smooth muscle problems (swallowing, reflux, constipation, bladder weakness).
o Why some children have significant changes on their echocardiogram and others not.
o Why some parents suggest their son has ‘severe progression’ and others think their son has a ‘mild’ progression, and why physicians refer to a severe Becker or mild Duchenne.
o Why physicians talk about ‘outliers,’ individuals who are not following the normal progression, shake their head, and are unable to offer an explanation.
o Why some children have no response to steroids, and others have a dramatic response.
o Why brothers, with the same genetic mutation, often have different rates of progression, and why some identical twins are not ‘identical’ when it comes to Duchenne.

We might spend the day arguing about steroids and supplements and perhaps other approved drugs, but the reality is that there are different rates of progression and many of these differences are only explained with genes that modify progression. Individuals with the same mutation demonstrate significant variation. And simply saying a mutation is ‘in frame’ (the genetic sentence makes sense) or ‘out of frame’ (genetic sentence makes no sense) does not completely explain the rate of progression. Some individuals do well, in spite of having the ‘out of frame’ mutation and ‘zero dystrophin,’ while other boys who are expected to do well based on the presence of dystrophin have significant weakness.

We might also speak with experts in Duchenne and discuss how often progression is different in a certain area or a certain country. During discussions with Helen Posselt from Australia, she talks about her aboriginal boys and how they seem to have a very rapid progression, often stop walking by five or six years old, and typically have no response to steroids. Why I wonder? She and I have discussed muscle fiber types and how humans differ from the mdx mouse. You are probably well aware that we have two fiber types (fast and slow twitch) and the mdx mouse has 4 fiber types (and infinite regenerative capacity). The only mouse muscles that contain fast and slow twitch fibers are the soleus and diaphragm. So we cannot compare the mdx and human equally. And there is no way (at the moment) to quantify an individual’s fast versus slow twitch fibers. We do know that the fast twitch fibers wear out first and certainly fast versus slow is an interesting discussion.

We might also discuss environment and it is pretty clear, weather has a significant influence on our health. We know individuals with Duchenne/Becker have more difficulty in the cold and freezing temperatures make it very difficult for them to move. We know that they are able to move easier and feel better in warmer climates. Ok, ok, who doesn’t feel better with the sun shining on your back. Throw in a little ocean breeze and the beach and we are all happy. But I think we all recognize climate changes are significant for individuals with Duchenne.

Of course there are a range of possibilities that can influence progression: care, treatment regimens (steroids, ace inhibitors, supplements, stretching, etc.), positive home environment, climate, and most definitely genetic modifiers. We are collaborating with researchers at UCLA in an effort to identify these genetic modifiers, to understand what genes are up-regulated or down-regulated, and how progression is influenced or modified. This is a critical piece of the puzzle.

You are already aware we launched DuchenneConnect (www.duchenneconnect.org). DuchenneConnect will expand over time, with surveys on behavior, services, progression, and information related to clinical trials, as well as information about specific projects.

Genetic modifiers – peeling back the genetic layers to understand progression – will be one such project. The project will involve collecting DNA samples (sputum) for analysis and comparison. UCLA researchers are interested in collecting samples from individuals with Duchenne/Becker. Of course, the more individuals participating, the more robust the data set. What will also help a great deal is to learn about ‘outliers,’ individuals who are following a different course than expected or predicted, and brothers or twins who have different rates of progression.

I think we all know that things are changing, though I fully realize it will never be fast enough. We do know that our children will have the opportunity to participate in promising clinical trials. We also know that it will not be easy or simple; there will be some children who do not respond to a certain therapy and some children who will do really well. Understanding genetic modifiers and looking at differences will be key to maximizing therapies, identifying new therapies, and helping to tailor therapies to an individual in order to achieve maximum benefit.

Please register with DuchenneConnect. You will be hearing more about our participation in the Genetic Modifiers project in the next few months and how we intend to begin collecting samples. It is one more way we need to work together as a community to End Duchenne.

Did you ever play the game “Chutes and Ladders’ with your child(ren)? It is a very simple game of counting -100 steps in all, but offering shortcuts in the form of ladders and missteps (or chutes) that send you falling. My children absolutely loved this game. They were delighted when they slowly and carefully moved their pawn along the path, holding their breath as they landed just before or after a chute. They especially giggled when I landed on the wrong step and slid down the chute. Some chutes are short and recovery is easy. With others, you fall back and nearly have to start all over again. With one roll of the dice we all knew, we might be instant winners or sent spiraling down into oblivion. The goal was to avoid the chutes of course, but often one roll of the dice would change everything. It wasn’t exactly something you could plan for. It just happened. That’s it isn’t it. Life – hardly a game, but filled with chutes and ladders.

Is Duchenne a chute or ladder?

Your instant response – CHUTE! Of course it is a chute, a downward slide, a spiral into a cavern of loneliness and sadness. Your heart feels like it is breaking over and over. That makes sense doesn’t it? Duchenne was not part of the plan. You grew up with a certain set of expectations. You carried around a set of plans. You had them all organized in an imaginary box in your mind, adding dreams, wishes, and thoughts all along the way; things you want to do, things you are sure would happen, things you knew you would have – love (partner, husband/wife, love of your life), career, family, healthy children, grandchildren, health. You would pull them out at the right time and in the right place and watch your life evolve. There was no plan for the diagnosis of Duchenne. It couldn’t happen and wouldn’t happen on your watch.

And then out of the blue (or maybe not so out of the blue) some worry crosses your mind or someone says something, makes a comment. Your son is not keeping up. It’s that roll of the dice and you feel your step is no longer solid. You feel yourself falling. You might have suspected something, saw some something that you could not quite put your finger on. You might have mentioned it to friends, to relatives, to teachers, to the doctor. Early on, you were dismissed. It’s nothing. But something changed in you. You became more vigilant. You knew.

And then the word Duchenne. You can feel yourself sliding down that chute and it feels like you cannot get your footing, cannot find a ledge...Everything you planned for, that box of dreams you once carried, drops right on the ground, the contents spilling out everywhere. Everything has changed. Not only has the dream changed, but the box has shattered as well. How will you cope? Is it worth going on? Words like Joy, Laugh, and Smile are now foreign concepts, not to be found as you hit rock bottom.

Could Duchenne be (or become) a ladder?

I think I cried nonstop for the first three months after Chris and Patrick were diagnosed. I was sitting at the bottom of the chute staring up. I spent a good bit of time concentrating on all the things I thought I would not have, could not have, and would miss. I was sad for my boys, for my girls and for my family. But at a certain moment, I stopped crying. Maybe I ran out of tears. I found I could no longer justify my crying. After all, this was not about me. It was about my boys and my girls. They were happy and life was going on. As much as I wanted to shut it down, life kept moving. It changed for me to be sure. My dreams changed. My box of plans had to be opened, re-jigged, and remodeled, but I could not sit at the bottom of the chute motionless. I had to stand up and roll the dice, try to take another step forward, and I found that when I rolled the dice, I could take a one step and then another. It was not easy, but I found the more steps I took, the more I could take. And I found others to help – all of you – cheering me on, saying I could take the next step, and the next, and the next. It made me smile. But smiling isn’t right in Duchenne? At least I thought so… but maybe not. Maybe there are reasons to smile again.

I see it in the marathon, at the conferences, on the message board, everywhere. All of us, together believing we can take the next step and knowing that with each step, we will find ladders or build ladders where we need them and when we need them. We are moving and climbing those ladders together. We just need to stand still for a moment and realize what we can do together.

It’s Thanksgiving in the U.S. this week. It’s a day when we spend a few moments thinking about what we are thankful for and since this is my blog, I wanted to take advantage of the opportunity to tell you how grateful I am to have all of you in my life.

You are my ladders.
You inspire me and make me grow.
You are strong when I need to lean.
You are firm when I need to hold on.
You are creative.
You build ladders where they did not exist.

You are all on my “what I am thankful for” list.

o To Chris, Patrick, Jenny and Michelle…you are and always will be my teachers, my inspiration, and the loves of my life.
o To every family and every boy, girl, young man, and adult with Duchenne or Becker muscular dystrophy…you are my heroes.
o To every person who has donated to PPMD, run in marathons, volunteered, wished us success…you are my angels.
o To every researcher who has dedicated him/herself to make a difference in this space…you are my Superman and Wonder Woman.
o To every physician and healthcare professional who places his/her tender hands on our children, looks carefully and comprehensively with hope…you are our protectors and the guardians of our children.
o To the pharmaceuticals and biotech companies committed to Duchenne…you are working to make our dreams come true and we wish you Godspeed.
o To the Congress of the United States for hearing our voice…you are our champions.
o To the Board of PPMD…you are our visionaries
o To Kimberly, Will, Ryan, Sandra, Cecilia, Janet, Stephanie, Sue, Sandy…you build our ladders and our hope.

Soon after his diagnosis, their son was started on the weekend dose of steroids. That regimen seemed to ‘hold’ him and seemed to stabilize his motor function for a period of time. While attending PPMD conferences long ago in Pittsburgh, they became aware of a number of different regimens for steroids – weekend, intermittent (10 days on, 10 off, every other day, etc.) and daily regimens. They spoke with other parents and made the decision to change from the weekend regimen to a daily regimen of Deflazacort. For this young man, changing the regimen was a good decision. His strength improved and he, once again, seemed to stabilize.

Today he is 14. The diagnosis was 10 years ago. At 14 years, he continues to walk and walk well. He is able to run. (OK, so I am well aware of how our sons ‘run’, but for them, it is a ‘run’ and I’ll take that!) At 14, he is in high school taking four honors classes. At 14, he has friends, loads of them. At 14, he is doing well. He does have some complaints related to his height and his red, puffy cheeks, but all in all, he is doing really well.

His parents have become very good friends over those 10 years. I lean on them often for advice, for help…for just about anything. We discussed those early days, the first year(s) after the diagnosis. The dad looked at me and said “I would have saved a lot of sleepless nights if I could have had some clue about how my son would look at age 14, about the quality of his life, about the quality of life for our entire family; if I could have had some assurance that we would be NORMAL.” And they are!
NORMAL. How many times have we all wished for this? NORMAL is a strange word and I am sure each one of us will have a different definition. In the context of Duchenne and our frame of reference, I would guess NORMAL is actually referring to muscle function as in walking, running, and keeping up with peers. I actually think we need to reframe the word NORMAL because I’m pretty sure we are all NORMAL.
Actor Colin Farrell has done a great job of reframing ‘normal.’ His son is diagnosed with Angelman Syndrome. Angelman Syndrome is diagnosed between 3 and 7 years of age. Early signs are developmental delay which is functionally severe, speech impairment with minimal use of words, movement disorders, and unique behaviors such as short attention span, hand flapping movements and excitable personality. Many of these children have delayed or disproportionate growth in head circumference. When Colin Farrell talks about his son’s condition, he says, "With my son, the only time I'm reminded that there is something different about him – that he has some deviation of what is perceived to be normal – is when I see him with other four-year-olds. Then I go, 'Oh yeah', and it comes back to me. But from day one I felt that he's the way he's meant to be.” He also says that he feels incredibly blessed to have his son in his life. "There is no heartbreak about it…it's not a sad story. I'm incredibly blessed to have him in my life," he told Britain's Daily Mail. “He has enriched my life incredibly and I wouldn't have it any other way."
It is the same for us. Our children inspire us. They teach us. They are our gifts. And our lives are NORMAL – NORMAL for us. That is not to say we are content – not at all. We are working like hell to make sure we have our sons longer, that they can fully participate, that they can lead active, fulfilling lives, and that they have opportunities, lots of them. But in the meantime, it seems very important to recognize every moment of every day is important and definitely worth celebrating.

One type of testing is predictive: identify your genetic predisposition to a certain disease (e.g., BRAC 1 gene for breast cancer) or how you might respond to a certain drug (e.g., wafarin (vitamin K antagonist) for blood thinning after embolism, valve replacement, etc.). This type of testing will hopefully be our future as well because we know some individuals will respond positively to certain treatments and some will not. Understanding and predicting what interventions will be most effective for a certain individual is part and parcel of the personalized medicine we will see in the future.

Another type of genetic testing is referred to as ”direct to consumer.” Certain companies advertise directly about genetically testing a hair sample (an example of this approach). They will then perform testing and notify you about what type of foods are best for you or what type of supplements will improve your health. This testing is often expensive (both the testing and recommendations) and there is little evidence to support its validity. Insurers are not, at this time, willing or interested in covering this type of testing.

At the moment, for all of us, genetic testing is specific – it is specifically related to our sons. We want and need to know about our son’s specific mutation. We want to know exactly what happened in his Dystrophin gene that prevented his cell machinery from producing Dystrophin or produced a truncated (shortened) form of the protein that is unusable. For many of our families, especially those with younger boys, we are guessing genotyping has been done. But the real answer is that we do not know how many children have been genotyped, how many have ‘old’ or outdated testing, and how many have not been tested at all. In some clinics, physicians recommend biopsy, because biopsy is reliable for diagnosis and it is typically covered by insurance. Genotyping – sequencing the dystrophin gene – may or may not be covered by insurance. In addition, many healthcare providers may not be aware of this fast changing technology, may not understand why this is critical information for families, and may not have the knowledge base or resources to interpret results of testing.

The environment has changed dramatically. Genetic testing is a critical piece and essential for participation in upcoming clinical trials. Some of the early testing was unable to provide detailed test results and the technology has changed dramatically. Most recently, Madhuri Hedge, from Emory University, published her chip technology with 99% accuracy and a 7 day turn around time. You are probably aware that we have been working with Emory, the CETT program and others, to develop Duchenne Connect. We are working with MDA to develop a genotyping program and will do our best to reach across the US and around the world to ensure every child diagnosed (and those yet to be diagnosed) have accurate genetic testing, that their data is collected, and that they are potentially able to be considered for participation in upcoming clinical trials. Older boys, with outdated testing, may need to be retested. It the testing is greater than 5 or 6 years old, please ask your physician about the need to be retested.

In my mother’s generation, church was like drinking water, part of the routine of life, her spiritual hydration. She grew up with long prayers before and after every meal, saying the rosary every day, going to vespers (whatever that really means) and church, every Sunday. I would bet the farm she did not miss going any Sunday, until she moved in with me (!) and now we miss only if I am traveling. But we go through the same questions each and every week “are you still going” and the answer is yes, both of us knowing I would rather skip it. I think I suffer from too much church and too little spirituality. She would say “it’s up to you to make it worthwhile”. .Maybe. Or maybe I’m worn out on the idea.

We go. We sit in the front row for several reasons. One is because my mother is 91 and cannot walk long distances. We use a wheelchair and transfer to the pew. Another is because at 91, while she believes she can hear well, she cannot hear a damn thing really. Last, sitting in the front row lines her up to receive communion without a lot of unnecessary walking.

There is a little something in me that is ok with the church idea. I grew up Catholic and I know I am supposed to find something comforting about going to church. I have tried. It isn’t that I don’t pray. I do, often at strange times and in strange places. I find myself praying a lot surprisingly, much of the time it is a simple prayer about life, the safety and happiness of my daughters, my husband and my family or bigger matters, war, peace, genetic disease, poverty, hunger and very often it is about Duchenne, that everything we do and everything we support will move the field forward; about the success of upcoming clinical trials, about the critical need to develop treatments that will help every boy (girls too), to stop progression, to understand and appreciate more about muscle and the pathology of degeneration, to identify new strategies, to understand more about the complexities of the disease, to improve the quality of life, to assure access to therapies, and one day be able to diagnose a newborn and deliver a cure And most of the time, I whisper to Chris and Pat, hoping they are somewhere close, close enough to hear and help. As I travel, I see men and women in uniform, I pray for our troops to come home, for their safety and then my prayers come back to our DMD families across the globe, that one day, we will find every one of them with the systems we are developing (global registry, clinical trial networks, policies) and intervene with our knowledge about care, our investment in research and deliver promising therapies) and buy time, a lifetime.. And for strength…of course for strength... But not in church.

I had some impression that I should come away with something after participating in a church service and I do – the feeling that I have wasted the last 40 minutes. The services - impersonal, with meaningless petitions, rambling sermons and a mumbling priest… nothing.

Some time ago, the pastor said he wanted to build community. How I wondered? How is it that you build community when there is no real interaction? How is it that you build community when your audience is not engaged, cannot hear what is being said, looking at their watches, answering email (I’m guilty) or staring at the floor. The conversation is one way. The priest may be talking, but who is really listening?

Last week was the last straw. We had the mumbling priest. Even though I have probably heard those prayers at least a zillion times, the priest was in such a hurry, his words were tripping over each other. Unintelligible. I honestly tried to listen to the sermon but could not make out a single word. Not one. I walked out angry.

I had a notion to call the pastor, suggest that he ask different parishioners to make up the petitions - figure out what is important to the individuals here, at this church. If prayers are actually answered, what would make their life better? Petitions that mean something not just some ridiculous, unattainable Mary Poppins appeal. Something meaningful that makes sense, that we might work together to achieve, a prayer we might see answered. It might just convince us that indeed there is a God and He (She) does answer prayers.

And what about a parishioner giving the sermon? If you want to build the community, it might be worth knowing who lives in the community and what is meaningful to them. Ask the individual to talk about who they are, what makes a difference in their life and why they pray. It just might be a surprise. It does not have to be a 20 minute dissertation, rather a honest, heartfelt moment to express sorrow, gratitude about something in his/her life or tell us what happened in their life to made an impression. A life lesson perhaps... Making church human might improve all us.

This Sunday I will be home. “Still going?” It is the one gift I have to give to her.

Anticiipatory Grief… waiting, watching, worrying… it sets in that very first day and plants itself in your heart and mind. From that day forward you will notice your heart is heavy, unsettled, anxious… waiting for the next shoe to drop. Anticipatory grief… It scares the crap out of you and unfortunately, this feeling about the ‘other shoe dropping’; this feeling of anticipation, that more things will go wrong in your life will stick to you. It feels like walking through spider webs. It sticks to your hair, your clothes, and your heart. Over time, you will learn to quash some of these cobwebs, but new ones will grow. On certain days, you will be quite capable of managing, on others not at all... .

The diagnosis puts you dead center in the midst of a tornado, foreign words swirling around you and you falter. Maybe you fall. Who will catch you? It is pretty clear; at least some of your family members have no clue. Often they make sounds like “it will be all right’ or ‘God only gives as much as you can stand” or “you are strong’. Of course you aren’t strong, who is? And if God was paying attention, He (or She) would not have given you this in the first place. Your heart is breaking and you cannot breathe. Running away sounds like a really good idea but where will you run? And what would happen then? To your son? To your family? To you?

Where is the lifeline? Who should you turn to? One Google search provides 5000 or more links to information, to research and sometimes to snake oil promises. How are you going to sort through all of this? Your wish your partner understands, but he or she seems to be at another place, thinking thoughts far different than your own. It’s like watching a football game from different places in the stadium – you see and feel different things-at different times. Your view is significantly different from everyone else at any given time. The word frustrating hardly seems to capture what you feel.

When my boys were diagnosed, my husband concentrated his energies on how our house might be adapted. I was out searching for treatments, a cure. I thought he was crazy. I’m certain he thought I was off the deep end. I thought he did not believe in my ability to find help. I wondered why we were together and I wanted him to leave. I’m sure he felt the same. Two different places, grieving in different ways but focused on the same picture, hearts breaking but not breaking in the same spots..

Grief must be recognized. It is very individual and each individual has different responses and different ways of manifesting his/her grief. This is sometimes interpreted to mean a certain individual does not care or does not care enough. And to add insult to injury, there is anticipatory grief…the belief you are on a certain trajectory, that more grief will find you, will hunt you down.

On September 11, 2001, I landed in Washington DC around 7:30 AM. I flew in from Seattle and recall thinking the airport strangely silent. I felt something, some unknown something, a storm coming. I went to my hotel, located near the Pentagon. It felt like slow motion as I entered, TV on in the lobby replaying that first plane hitting the Tower and then another hit. I felt the hotel move and later realized I felt the impact of the plane hitting the Pentagon. My daughter Michelle lived in NY, 5 blocks from that first Tower. I called and called. No answer and then no reception. Anticipatory grief. Was this the other shoe… I won’t ever forget that moment or that day. 5 hours later, hearing her voice was the defibrillator, restarting my heart. I think my heart did stop that day and I will admit to a great deal of what my family would refer to as needless worry. In fact, I may be an expert when it comes to worry.

It should come as no surprise that you are not alone. That grief, grieving, anticipatory grief come with the territory. Grief, one of those elephants that litter up rooms, dampen our spirits, impact celebrations, make life events bittersweet and make smiles often seem halfhearted.

Comprehensive interdisciplinary care for families. It is essential for all of us and should be introduced on Day 1... DMD is a family disease. It affects everyone it touches and Counseling is fundamental to insure quality of life for your son, for you, for your partner, for your family. Duchenne is not something you can tackle alone...