Reflections on 2013

 

Whenever a year ends, we might feel compelled to look back on it and reflect on what happened – the victories, lessons learned and other memorable occasions. For us, 2013 was a pivotal year for the EB community and also for EB Resource, too.

 

We saw researchers continue pursuing research findings for a variety of EB-focused clinical trials already in progress. Organizations like DebRA of America, EBMRF and Jackson Gabriel Silver Foundation continued to spear efforts to raise awareness, funding for EB clinical research and support for the EB community. Planning for the Patient Care Conference got underway as details of next year’s event, July 30-August 2 in Nashville, Tenn., were announced.

 

In 2013, I moved from a member role on the Board of Trustees at DebRA of America to that Board’s President. The greater role and involvement has been a lot of work but exciting to be part of such a forward-thinking organization and I’m honored to be working alongside the other Board members and DebRA’s executive director Brett Kopelan.

 

Unfortunately, every year of triumphs and celebrations brings some sadness, too, and each time we would hear of another member of the EB community passing, we felt a sense of personal loss, which also brought many of us closer together to continue to fight for greater awareness for the disease.

 

What will 2014 bring? It’s hard to say for certain but I know as we all go forward, we’ll find new avenues for reaching out to others to educate them about this little-known disease and we’ll find other ways that we can be supportive of each other using the knowledge and resources we have and new ones that we collaborate on or create altogether.

 

We wish all of you a bright and beautiful new year, from our family to yours.

 

What Does Support Mean to You?

 

We just had a busy couple of weeks in the EB community, busy couple of months for some of those planning large-scale EB fundraisers and awareness events, like our friends at Jackson Gabriel Silver Foundation and DebRA of America. But in the end, why many of us do what we do is ultimately to uncover new ways or strategies to allow us to better support those diagnosed with EB, their families and their caregivers, often one and the same.

 

But support comes in many forms and can mean so many different things to people. For some families, it might mean opportunities for discounted supplies or even free resources to make the caregiving process operate more smoothly or comfortably for the patient and for the family incurring the costly bills of wound care which can truly cripple a family’s savings. For other families, what may be most helpful of all is simply having easy access to a medical expert, such as a knowledgeable, licensed and registered nurse, to ask questions or seek guidance as caregiving dilemmas arise. Others may view support as a kind voice offering words of advice, such as from a fellow parent who understands the emotions being experienced or from bloggers sharing their own stories so others can identify with them.

 

For your own situation, where do you feel you have the greatest need for support, if at all? Each family is different and may be able to help another in one area while needing some assistance or guidance in another. That is what makes the different online communities so unique. You can experience one kind of synergy and group dynamic on Twitter and then discover a totally different set of people and input from your Facebook community.

 

We encourage you to reach out to as many different people across social media platforms and organizations to find the right support for you and your loved ones. There are so many wonderful people going through similar circumstances as they learn to integrate life with epidermolysis bullosa into their world, and it’s so much more helpful when we can reach out to others who have been there before or may be there with us right now and can offer us some consolation, empathy and valuable knowledge.

Small Steps Mark Big Success

This week, we continue to reach out to others and educate as EB Awareness Week rolls on, concluding Thursday, October 31. For those who are not usually comfortable putting themselves out there in such a visible way to campaign for a cause, even one so close at heart, it may seem a little intimidating. But like many things that we must do for a greater purpose or good, sometimes we just have to step out of our “proverbial” comfort zone and embrace the task at hand.

 

There are big challenges ahead of us in the EB community but as you recently may have read in an interview with DebRA executive director Brett Kopelan, there is also much opportunity and some very exciting things happening within the research realm, for example, that could lead to improved treatments and possibly even a cure in the future. Some great progress has been made by several of the universities and children’s hospitals who are heading up the clinical trials that could be completely pivotal in charting the course of EB in the future.

 

Much like the tasks before us on a day-to-day basis living with EB and caring for someone with EB, the tasks we must embark on during EB Awareness Week may seem daunting, and we may feel sometimes like we’re running uphill with many miles to go. Because of this, if we’re not careful, we can simply write off the outcomes of a single community awareness event or school fundraiser as insignificant in the big picture. But they are not. Far from it. EVERY small step that each of us makes to educate one more person about epidermolysis bullosa contributes to a huge gain in awareness. Our work may be on a smaller scale but it does in fact contribute greatly to the overall impact of organizations like DebRA of America, the Jackson Gabriel Silver Foundation and EBRMF, who continue to find new creative ways to get their messages in front of key decision-makers, influencers and contributors. 

 

So as you finalize those details on an upcoming fundraiser you might be hosting at work or an online campaign that you are planning through one of your social media channels, do not minimize the work you are doing. It is all QUITE significant and each inch of progress does ultimately contribute to miles of progress.

 

If no one has had a moment to break from their own planning to say it to you already, then let us be the first ones to say it — thank you. For all you do to help be a voice in the EB community in whatever capacity you can. It is needed, it is essential and it is heard.

Fall EB Events and Fundraisers

With EB Awareness Week not far off in the distance, we thought it was a good time to share news of any EB events we have learned of taking place later this fall. If you know of any others, please feel free to let us know here on the blog page or in our Facebook community so we can help support these individuals and families planning them. Thank you!

You may also email me any of the event details at leslie.rader@hollisterwoundcare.com. As always, we’ll do our part to help get the word out to others about it.

  • Wicked Hot Run 5K Walk/Run (Murrells Inlet, SC)
    This event is scheduled for Sunday, Sept. 8 at Huntington Beach State Park, located at 16148 Ocean Hwy. The family run offers participants three types of terrain including forest trails, paved roads and sand, with a portion of proceeds to benefit DebRA of America. For more information, click on this event link.
  • MW Foundation and DebRA Tennis Pro-Am (Queens, NY)
    The inaugural MW Foundation event is scheduled for Wednesday, Aug. 28 at West Side Tennis Club, located at 1 Tennis Place. Proceeds from this inaugural fundraiser featuring former #1 tennis player in the world Mats Wilander will benefit DebRA of America. During the event, participants will get to play with former and current tennis pros and watch a professional exhibition match. For more information, click on this event link.
     
  • 15th Annual DebRA of America Benefit at MOMA (New York, NY)
    This event kicks off National EB Awareness Week on Thursday, Oct. 24 and features silent and live auctions, live music and a private viewing of the 5th Floor painting and sculpture galleries where Van Gogh’s The Starry Night and hundreds of other famous paintings hang. Proceeds benefit DebRA of America. For more information, click on this event link.
     
  • 2013 Medtronic Twin Cities Marathon Weekend (Minneapolis, MN)
    The Jackson Gabriel Silver Foundation is currently recruiting for its team as part of a weekend-long array of events Friday through Sunday, Oct. 4-6 including a marathon, 10-mile, 10K and 5K. Team JGSF will be running to support the work of University of Minnesota EB researcher Dr. Jakub Tolar. If you would like take part as a member of the team or get involved in some way, email alevine@jgsf.org. Proceeds will benefit DebRA. For more information about this and other events for the organization, click on this event link.
     
  • Frontiers Day Fundraiser (Paris, AR)
    This event coincides with the 33rd Annual Mt. Magazine Frontier Days Festival held in October and features a Civil War re-enactment. The EB event will be held Saturday, Oct. 5 at the Logan County Fairgrounds, 301 W. Walnut. There will be a DebRA booth with information about EB and raffles, giveaways and a special silent auction of handcrafted items. For additional information about this year’s event or to donate an item, email Cindi Hunter at meadowfairies@gmail.com. Proceeds benefit DebRA. For more information, click on this event link.
     
  • “What Were We Talking About?” East Coast Premiere (Spring Lake, NJ)
    This original play written by Linda Stoval, Gretchen Wheeler, Gale Alexander and Vickie Cawthra leaves its Wyoming stomping grounds to make its east coast debut at Spring Lake Community Theatre Saturday and Sunday, Oct. 26-27. All proceeds benefit DebRA of America. To purchase tickets, go to this link. For more information, click on this event link.
     
  • ING NYC Marathon, Team DebRA (New York, NY)
    Support or run as a part of a team raising funds to support the EB-focused organization in the world’s largest marathon Sunday, Nov. 3. All proceeds benefit DebRA of America. To check out who is participating in the campaign or to donate, go to this link. For more information, click on this event link.

EB Dads We Celebrate

This is a month where families everywhere celebrate “dear old dad.” Many families honored these revered men this past Sunday with special Father’s Day meals, gifts and activities. We wanted to take a few moments this month to use our semi-regular EB Champions feature to celebrate some fathers in the EB community who we think deserve a little extra recognition for the work they do to support EB patients and their families year-round. There are many great parents we could honor every week – these are merely a trio of awesome dads out there, and we thank each of you this week for all that you do.

  • Brett Kopelan
    Brett Kopelan serves as executive director for DebRA of America and is focused every day on how to improve the lives and impact the futures of EB families everywhere, and has been for many years, previously serving on the organization’s Board of Trustees. While he and his team may have set out to help EB families face the day-to-day challenges and address long-term issues affecting those diagnosed with EB, he does have a personal mission at stake, too, as a father to a little girl diagnosed with RDEB.
     
  • Tim Ringgold
    Tim heads up Pioneering Unique Cures for Kids (PUCK), a parent-driven initiative of Children's Cancer Research Fund, who have made it their collective mission as noted on their website, through funding and advocating for cutting edge research to help “transform rare, incurable childhood diseases into curable ones, one disease at a time.” Tim is frequently a guest speaker in the community about the organization and EB advocate, working tirelessly to educate others about the disease.
     
  • Alex Silver
    Not only is Alex co-founder with wife Jamie of the Jackson Gabriel Silver Foundation named for his five-year-old son diagnosed with EB at birth, but he continues to be a major champion of clinical research support efforts. He even testified before the Senate Committee on Health, Education, Labor and Pensions back in summer 2010 in an effort to attract greater attention and focus on the treatment of rare diseases.

EB from a Global Perspective

 
To people just becoming educated about epidermolysis bullosa, it may come as a surprise to see how far-reaching efforts are to raise awareness and research dollars to find a cure (long-term) and better treatments (short-term) for those diagnosed with EB. For example, did you know that there are several dozen different national DebRA groups across the world…from nearby Mexico, Canada and here in the U.S. to across Europe and its various organizations and as far reaching as China, Malaysia, Russia and Japan?
 
The global network known as DebRA International serves as a centralized hub online for people to gather information about the 48 different national groups as well as their website addresses and contact information. We’re constantly trying to stay abreast of EB headlines across the world and are frequently impressed with what we hear taking place not just here with DebRA of America, but in other countries, too. For instance, DEBRA Ireland has done quite a bit to engage its various communities with unique events and opportunities to educate. Recently, they hosted a family day and their current online calendar reflects a diverse mix of fun and memorable ways to connect including a motorbike run, a dance marathon, building event and even a coast to coast, multi-sport challenge which is sure to garner a lot of media attention and participation nationwide.
 
Throughout the year, DebRA International is also instrumental in the coordination of conferences across the world to bring together scientists, activists and others deeply involved in the cause for discussions about gathering funds and conducting clinical research, including one just held in late May in Lisbon. In September, a second annual EB conference will be held in Salzburg and later that same month, DebRA’s International Annual Congress in Rome. These are wonderful opportunities for people to share valuable information, insight and avenues to collaborate or pool resources globally where it makes sense.
 
In this country, we still have work to do across the various EB-focused organizations to raise EB awareness and research dollars, not solely DebRA of America but the other very active groups such as EBMRF and Jackson Gabriel Silver Foundation, among others, as well. It is comforting to know that we are not on this mission alone and that every time there is a small victory for any one of our various groups championing the cause for individuals and families impacted by EB across the world, it is in fact a huge victory for all of us.
 

Summer and Fall EB Events

Last week was a very busy week in the EB community. Many of the final springtime fundraisers took place including Jogging for Jonah, Butterfly Wishes for Ellie, Love for Lucas and the sixth annual Walk for EB in Cincinnati. As summer approaches, we thought it would be a good time to highlight those events that we have learned about taking place later this year, so far, and hopefully inspire others to coordinate something in their own communities.

If you hear about any other events or are planning one yourself, please send us all of the details. You can email me at leslie.rader@hollisterwoundcare.com. We’ll do our part to help spread the word here at the blog and via Twitter and Facebook.

  • Ayden Lee’s 3rd Birthday Party (Niles, OH)
    This special Elmo-themed birthday celebration is being held on Saturday, June 15. The event will take place at Waddell Park, 1000 W. Park Av. Guests are asked to bring a covered dish and drinks, as well as wear the color red in honor of Ayden’s best friend Jaxon who has EB. In lieu of birthday gifts, donations in Jaxon’s name are requested at www.debra.org/donate to benefit families supported through DebRA of America. For more information, click on this event link.
     
  • MW Foundation and DebRA Tennis Pro-Am (Queens, NY)
    Details for this sporting event are still being worked out but the scheduled date is Wednesday, August 28 and plans are for West Side Tennis Club, located at 1 Tennis Place, to host the event. Proceeds from this inaugural fundraiser will benefit DebRA of America. For more information, click on this event link and scroll halfway down the page.
     
  • 2013 Medtronic Twin Cities Marathon Weekend (Minneapolis, MN)
    The Jackson Gabriel Silver Foundation is currently recruiting for its team as part of a weekend-long array of events Friday through Sunday, October 4-6 including a marathon, 10-mile, 10K and 5K. Team JGSF will be running to support the work of University of Minnesota EB researcher Dr. Jakub Tolar. If you would like take part as a member of the team or get involved in some way, email alevine@jgsf.org. Proceeds will benefit DebRA. For more information about this and other events for the organization, click on this event link.
     
  • Frontiers Day Fundraiser (Paris, AR)
    This event coincides with the 33rd Annual Mt. Magazine Frontier Days Festival held in October, featuring its first ever Civil War re-enactment. The EB event will be held Saturday, October 5 at the Logan County Fairgrounds, 301 W. Walnut. There will be a DebRA booth with information about EB and raffles, giveaways and a special silent auction of handcrafted items. You can get additional information about this year’s event or how to donate an item by emailing Cindi Hunter at meadowfairies@gmail.com. Proceeds will benefit DebRA. For more information, click on this event link.

Second-Chance Blogs

Our year is winding to a close, and we’ve had an opportunity to blog about a wide variety of topics throughout the year. We also have had a chance to introduce our community to some special people who were kind enough to share their EB story and what they are doing to make a difference to expand awareness, raise funding for research and improved treatments, connect people in the EB community to one another — or in some cases, all three!

We know we can get busy and spend time away from our favorite blogs and Facebook pages, so we wanted to take this time to share some links to our favorite blogs we presented throughout the whole year. Think of it as a second chance, in case you missed the update the first time around. And if you did read it and enjoyed what you saw, consider sharing it with a friend or even re-reading.

And thank you to the following people who allowed us to share their own EB story or special connection to the EB community through their organizations. The links to these two-part conversations have been included, as well.

We’re excited about a new year ahead – new things to learn and share, new topics to cover and new conversations to hold with other valuable voices in the EB community. We always welcome ideas for future blog topics, so if you have any you’d like to suggest for 2013, please email leslie.rader@hollisterwoundcare.com. We love hearing from you!

Q&A with an EB Advocate: Jamie Silver of Jackson Gabriel Silver Foundation, Part II

Last week, we began featuring part of our conversation with Jamie Silver, who co-founded the Jackson Gabriel Silver Foundation with husband Alexander. The foundation held its signature annual event, ACTion for Jackson, late last month at Christie’s, the renowned NYC auction house, and featured guest speaker Dr. Alfred Lane of Stanford University and Dr. David Woodley of University of Southern California.

After sharing that the main mission of the foundation is to support EB research efforts, Jamie tells us this week how the group has been most successful in raising much-needed funds for this research support, and about how life has changed since the launch of the foundation for young Jackson Gabriel Silver, who is now 5.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

EB Resource (EBR): One of the things we noted on your website was your organization’s attempt to represent many different organizations and efforts involved in EB research, support and advocacy in the community. Was that a conscious effort on your part to be so inclusive?
Jamie Silver (Jamie): Definitely. We felt that progress would only happen if people are working together and talking to each other. In the past, some of the different organizations had not worked optimally with each other, which can defeat the purpose. We’re all trying to do the same thing with limited resources. We’re all trying to find a way to help our kids or other kids and adults with EB, so why not join forces and pull our resources together? So that was a very deliberate goal with our foundation.

EBR: What have been your more effective campaigns that have allowed you to be successful in your fundraising efforts?
Jamie: As an organization, we hold a number of events every year but one very large event we hold is ACTion for Jackson, and this year is our third year doing it. It’s grown substantially since the first one. What started as a way for Alex and I to introduce our friends, family and colleagues to EB has grown into a much larger event. This year’s event, which was held at Christie’s in New York, had 400 people and raised over $360,000. EB is a disease that most people have never heard of so a big piece is educating people about EB and how devastating it is to those stricken. I feel like all that people need to do is look at a website or meet a child or adult with EB to see how devastating it is. EB is very apparent. It is not a hidden disease. Once you’ve met someone with EB or seen pictures of someone with EB, you know that it exists. We have found that when people learn about EB, they are often generous in helping out.

One of the most powerful fundraisers for the foundation has been the charity marathon circuit. It started in 2011, when we fortunately received five spots in the New York City Half-Marathon, which was the most a first time charity partner could be allocated. We had been invited to be part of the community charity program and the New York City Half and Full Marathons. We felt lucky because these are extremely popular and extremely hard to get into. The runners commit to raising a certain amount of money for the charity that they’re running on behalf of. That first year, we had five runners in the half marathon, and it built a lot of excitement about it. Then we had five runners in last year’s NYC full marathon. What was so wonderful about that was there was a mom of a boy in Utah who ran and a father and an aunt and uncle of a girl in Atlanta who ran, so it gave these families a chance to participate in raising money for research and advocating for their loved ones with EB, and that ballooned. In the half-marathon in March, we had five moms of children with EB who ran, and they came from around the country. I really have seen this as a vehicle for people who haven’t necessarily known how to get involved with supporting research. It’s given them a way to do it and a way to allow their friends to help them.

Then we had a young man, a college student with EB who spent last year in Israel, and he put together a team of over 40 runners for the Jerusalem Marathon who were running to raise funds for EB research. For another upcoming event, a couple of moms got together and said, "Let’s do a team for the Disney Marathon," which is in January. You can do a 5K, half-marathon or a full-marathon. So far we have a team of 40 people. It’s been a wonderful way to build an EB community and one that is learning about what’s happening in research and participating in finding a cure along with us! Along the way, these runners have raised well over $120,000 for research in 2012 alone.

EBR: How does this kind of response compare to your expectations when you first launched the foundation?
Jamie: When Alex and I first started the foundation, it was definitely grassroots. We knew we really wanted to support research but we certainly didn’t imagine that in two years, we would have so many people involved and excited about helping. In addition, all of the enthusiasm from the medical community about what’s happening in the field of research is helping us grow. It’s definitely gone much faster and grown bigger than we hoped. When I think about the fact that Jackson is going to turn 5 this year and that by the end of 2012, we will have raised well over $1 million for research, it’s unfathomable in a way. And, even more exciting, most researchers are more excited than ever about the prospects for available treatments and cures in a reasonable timeframe.

EBR: So how is Jackson doing?
Jamie: He’s doing well for the most part. Jackson has a mild to moderate form of recessive dystrophic EB. He’s in preschool and loves it. He’s really social and loves learning and is very enthusiastic. But he deals with a lot of pain. We bathe him every day and change his bandages, and it can be painful. He has a lot of anticipatory anxiety about it. Now that he’s turning 5, he’s starting to ask a lot of questions – why do I have this? Who else has this? Why don’t my friends have this? Why can’t the doctors make it better? He knows that we started this organization. At his age, he certainly doesn’t understand fully what this is all about, but he goes out to the marathon events and he cheers. We are very honest in telling him that Daddy and I set up this foundation to work really hard with doctors so we can make his skin less fragile and sensitive and so that help all kids who get these bad boo-boos and blisters when they fall down. So he is definitely gaining an understanding of what all of this is about.

 

Q&A with an EB Advocate: Jamie Silver of Jackson Gabriel Silver Foundation, Part I

Jamie and Alexander Silver founded the Jackson Gabriel Silver Foundation in 2010, following the birth of their son Jackson and his diagnosis with recessive dystrophic epidermolysis bullosa. Recently, we spoke with co-founder and mom Jamie about what the foundation is doing to make a difference in the EB community. We will be featuring this conversation over the next two weeks.

 

This week, Jamie talks about the family’s introduction to EB and how she and her husband set out on a mission to create an organization focused on one key objective: supporting research efforts to develop a cure and improved treatments.

 

 

 

 

 

 

 

 

 

 

 

 

 

EB Resource (EBR): Let’s talk about how you and your husband first became aware of EB. When was your son Jackson born and how long afterward was he diagnosed with epidermolysis bullosa?

Jamie Silver (Jamie): Our son was born in fall of 2007. When he was first born, the doctors didn’t notice anything wrong other than his nails were discolored and that he had a blister inside his mouth, which were not thought to be major problems. When Jackson had a heel print the next day, the nurses covered the area with a Band-Aid, and when it was subsequently taken off, it removed the skin from his entire heel. They immediately rushed him to the NICU for special care. In the NICU, he received an IV that was taped to his finger, and when that was removed, it took all of the skin off of his finger. I think many parents of newborns with EB hear a similar story — the hospital staff is well meaning but has never seen EB before and doesn’t know how to handle a child born with it. In Jackson’s case, he was fortunately diagnosed soon after his birth by a pediatrician who had trained at Children’s Hospital of Philadelphia where she had seen EB prior.

EBR: What’s going through your mind as a parent when you receive news of this diagnosis? Were you familiar with it at all?
Jamie: No, we had never ever heard of EB. Jackson was our first child. We were completely shell-shocked. Thinking back to that time is a blur. I have memories and glimpses of myself sitting in the NICU and remember being so frightened about what they were telling me and all of the complications that Jackson might have as a result of EB. Within a week of his birth, we transferred him to a hospital where they had treated other newborns with EB and had a specialist on staff. I remember the first time we ever watched them do a bandage change, and they took out all of these needles and supplies and thought, "I don’t even know how to take care of a baby yet. How am I going to be able to do this?" He spent several weeks in the NICU and we learned how to care for him before bringing him home.

 

EBR: Tell me what that experience was like for you and your husband.
Jamie: EB’s physical manifestation arose quickly. Jackson lost all his nails and formed blisters in his mouth and all over his body. My husband and I had to learn how to treat our son and improvise in new situations as they arose. I was briefly in touch with some other families, but in the beginning, I found listening to the stories overwhelming. It took me a little time before I could fully immerse myself in the community because I needed time to process everything myself. My husband started doing a lot of reading and learning about what was happening in the field of research. It took time to adjust to the reality of our lives versus our expectations.  We are stronger as a family as a result, but we worked hard to get there.

 

EBR: Where along your journey did you decide that you wanted to do more, that you wanted to launch an organization focused on the EB community?
Jamie: What really drove us to start our foundation was that we wanted to focus our energy purely on funding EB research. Alex quickly realized that with such a rare disease and diverse patient population spread all around the globe, pharmaceutical companies were going to need a push to be interested in EB, because it is incorrectly perceived as too small of a market. It was going to rely on families working with policy makers and the private sector to advance EB treatments in a timeframe that helps today’s kids. That’s where we got the idea to create something focused solely on research and with a lean infrastructure, we could pass almost all of the funds onto researchers.

 

EBR: And you launched the Jackson Gabriel Silver Foundation in 2010, right?
Jamie: Yes.  In 2009, we held a fundraiser for a family fund set up within DebRA of America. We knew we wanted to educate the people in our community and raise money for research (specifically, David Woodley’s protein-replacement therapy at USC). We thought that if 100 people attended that it would be amazing. It turned out that 200 came and we had to stop selling tickets!

We raised almost $70,000 at our first event and quickly realized that we were onto something. If we were going to raise a lot of money, then we wanted it to be specifically for research, as we think it is the best gift that we can give any child living with EB, and we also knew that we could keep expenses low so most of the funds would go to the researchers. So that’s where the idea of starting a 501c3 began and we launched in 2010.

EBR: You mentioned that your group is open to supporting various kinds of therapies and treatments across different institutions. Are there particular facilities or research organizations with whom you’ve partnered most frequently? Tell us about the different research efforts your organization supports.
Jamie: The first big project that we raised money for was Dr. (David) Woodley and Dr. (Mei) Chen at the University of Southern California who were working on a protein-replacement therapy for dystrophic EB. We felt it held a lot of promise based on years of published research and was showing good results in models. Our research showed that protein-replacement therapies had successfully made it through the FDA and the protein in question – Collagen VII – was a “cousin” to Collagen I, which was approved for cosmetic treatments. In speaking with experts, it also seemed that protein-replacement therapy was the most likely candidate to get to those who needed it first given the regulators’ understanding of it. Finally, our Foundation is backing both treatments that increase quality of life significantly as well as cures. While protein-replacement therapy is not a cure, it could make the difference in living a long and full life vs. a shortened and painful one.

We have also supported protein-replacement therapy at Stanford University and stem cell gene therapy at the University of Minnesota (not the current bone marrow transplant program). We have set up a matching campaign with EBMRF (Epidermolysis Bullosa Medical Research Foundation) for the University of Minnesota and Dr. (Jakub) Tolar who is coming up with a gene therapy which involves taking cells from EB skin and re-engineering them. Because it’s the patient’s own cells, there would be less risk of rejection. So they wouldn’t have to go through the same chemo and all of the things that have made the current stem cell transplants so tricky. DebRA is also supporting Dr. Tolar’s work.  At Stanford, they’re also doing some protein therapy through a different method of delivery, so we are interested in seeing which one works most effectively, which could be something different for each person.

Also, along with the EBMRF, we have established something called the EBCRC, the Epidermolysis Bullosa Clinical Research Consortium. It’s a research consortium so there are a variety of different physicians at leading research hospitals that meet regularly to collaborate on best practices and translational research. We established the Consortium to advance their knowledge of EB and improve outcomes for EB patients.

EBR: That sounds very similar to what they’ve tried to do with Stand Up to Cancer and that particular movement to unite cancer research efforts.
Jamie: Yes, Dr. (Alfred) Lane at Stanford and other doctors mentioned that there was a research consortium for rheumatoid arthritis and they found so much great stuff has come out of these doctors collaborating, so that was the premise behind it — that it has worked really well for other diseases in advancing care and research. It should also help support these research trials that are going to be starting in 2013.

EBR: Is the Consortium and its discussions and findings something that is currently a resource available to the public through a website or other communications or is the collaborating being done privately between the institutions solely?
Jamie: They are meeting and working together privately for now with the goal of expediting clinical research on EB. One thing that has really struck us in talking with the researchers and having a front-row seat of what is happening in EB research is the doctors’ enthusiasm. I think the doctors feel way more encouraged than they ever have, that things are starting to move ahead, there’s starting to be more funding available and people are working together. We just returned from the Patient Care Conference and there was a real sense of optimism from the research front.

Next week, we’ll continue our conversation with Jamie as she discusses which fundraising efforts have been most successful for the foundation and what her son thinks of mom and dad’s work in the EB community. For more information about the Jackson Gabriel Silver Foundation and the work they are doing, visit the organization’s website at www.jgsf.org.