Thank You, EB Voices!

We wanted to take this month that celebrates thankfulness to send along our own gratitude to the individuals and groups whose work and words have helped to raise awareness, and, in some cases, research or support dollars for those diagnosed with EB and their families. We have frequently featured them here and called them "EB Voices" because they, in their own unique way, have spoken up and made their voice heard. This can be really difficult, particularly in a world of so many loud voices booming back at us while we try to bring focus to a rare disease like epidermolysis bullosa.

We have often featured those voices through interviews or special guest blogs. Since some of our followers could be new to our blog or have only joined us this year, we thought it would be a great opportunity to share some of those past links with you as our way of introducing you to merely a handful of the wonderful people out there who do their part to raise awareness about EB every day – some are patients, others  family members, and still others, authors or advocates, but all of them have something to say. And we are appreciative that they take the time to do something about it.

So we introduce you to some past featured EB Story conversations. Thanks for reading!

Words from the Community

The members of our EB Resource Facebook community are always offering valuable insight into the lives of those personally facing epidermolysis bullosa or caring for someone who is. Recently, we listened in to hear what members are talking about most and are sharing some of the highlights from the community, in case you missed them.

A lot of information gets communicated every day on Facebook and it’s very easy for helpful suggestions or supporting words to slip by without your knowledge. We want to encourage you to stop by our Facebook page on a regular basis and let your voice be heard within the community on those subjects, popping by with a question or commenting about whatever you feel most passionate.

** Please note that comments and recommendations are offered by individual members of the EB Resource Facebook community and are not necessarily recommended or endorsed by EB Resource. Individuals should always consult a physician before making any changes to their wound care program or other care regimens.

  • We always like to pose questions to our community members to get their perspective on a variety of topics. In February, we asked EB Bloggers what personal benefits they’ve gained by being a regular blogger. Derra Nicole Sabo shared that for her, the benefits are two-fold: “Being able to not only help others, but to connect with other EBers.” If you’re an EB blogger, how would you answer that question? It’s not too late to share your thoughts here. We appreciate what EB bloggers do to encourage interaction among the EB community and spread the word outside of our immediate circle of those directly impacted. By being a loud, steady voice online that keeps conversation about EB flowing, you provide an invaluable service that can indirectly support us all.
     
  • Earlier this year, we featured a two-part Q&A with Jennifer Gorzelany, a consultant to Shire (formerly Lotus Tissue Repair) who answered questions about the EBCare Registry. In late January, one member of the community, Sue Altinkeser, commented that there may be confusion among community members about who should actually take part in registering their family’s data: “People are thinking if they are not dystrophic then it’s nothing to do with them…it may be easier to re-word the registry so all are comfortable in adding their data.” In response to the concern she expressed, we reached out to Lotus and tried to clarify for members what the group’s expressed mission is. EB Resource commented: “The goal of the EBCare Patient Registry is to help all individuals with EB. It is important that the registry collects information from people with all forms of EB, so that as much data about EB is available to qualified researchers as possible. Lotus Tissue Repair is currently working on a treatment for DEB. In the future, however, Lotus Tissue Repair and other companies or researchers may use the information in the registry to study other forms of EB, hopefully leading to improvements in care and the development of new treatments. Every EB patient can help with this effort by joining!”
     
  • Some members have found Facebook to be a helpful site to reach out for information or share news about an upcoming campaign or event. Rochi Orbegoso Pea introduced herself and daughter Raquel in November 2012 and their plans to launch an EB awareness campaign at her daughter’s school. Rochi was seeking a speaker at the time for an upcoming event, and we offered to send information on some prospective speakers in her area. Aaron Mavro let members know about a short film competition and his video entry focused on a talented young painter named Kate who has EB and serves as an ambassador for DebRA. Aaron shared the link so members could watch online and vote. Are there any upcoming events, campaigns or efforts you can share with the community and to which members can lend their support and encouragement in some way?
     
  • Members of our community let their voices be heard in other ways on our Facebook page by letting us know what stories touch them most. We are always fascinated to see which stories receive the most “likes.” For example, some of you were pleased to learn about a southern Indiana high school who found a way to turn a much-anticipated conference game into an opportunity to educate audience members about EB. Others of you were inspired to “like” a story about 11-year-old Molly Gibbons whose fearlessness and boisterous personality are bigger than her petite frame. We wanted to make sure that we gave everyone advance notice of Rare Disease Day, held February 28, by sending out a reminder two weeks earlier in an update. Several of you indicated that you appreciated the early notice with a “like.” And when we featured part one of a special virtual conversation with EB advocate Jamie Silver of Jackson Gabriel Silver Foundation, you not only told us you liked it: you shared it with your other Facebook friends and we always love to see that!

We love hearing from you…however you choose to speak up in the EB Resource community. So join in the conversation and let your voice be heard, because we welcome it!

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.