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 EB Care, Part II

Last week, we posted Part 1 of a two-part conversation with Jennifer Gorzelany, advisor to biotech company Lotus Tissue Repair, which developed the EBCare Registry in collaboration with DebRA of America, DEBRA International and EB experts. Gorzelany shared information about the background of EBCare and dispelled myths about the Registry. Now she takes us through the steps of registering and discusses long-term goals.

EB Resource (EBR): What kind of feedback have you received about the Registry so far?
Jennifer Gorzelany (Jennifer): The feedback we have received so far has been very positive. Patients are eager to help doctors and researchers learn more about EB, and they want to play an active role in improving EB care and finding new treatments.

EBR: How many individuals or families are currently enrolled in the Registry?
Jennifer: As of Nov. 15, 2012, we have 375 patients enrolled in the Registry.

EBR: And what percentage of the EB population has the EBCare Registry been able to capture so far?
Jennifer: The number of patients in the Registry so far is 375, with 226 of these located in the U.S. It is estimated that there are about 15,000 EB patients in the U.S.; therefore, about 1.5% of U.S. EB patients are currently enrolled in the Registry.

EBR: So how does it work? What are the steps to getting registered on the EBCare Registry?
Jennifer: Patients or their caregivers can go to the Registry website at www.ebcare.org. Once at the site, they can read more about the Registry and enroll by clicking on the “Register Now!” button. Completing all of the Registry questions takes about 30-40 minutes, but it does not have to be finished in a single session. Patients or their caregivers can create an account and enter their diagnosis in just a few minutes. Once an account is created, they can log back in over a series of days or weeks to complete the questions. If patients have trouble answering any of the Registry questions, they can request assistance from an EBCare Coordinator. The coordinator’s contact information is on the EBCare website.

EBR: Has the team behind the EBCare Registry established a timeline for getting the Registry as complete as possible, and if so, what are their goals?
Jennifer: The Registry will continue to enroll patients indefinitely, but the more data we can collect, the better we can understand each form of EB. It would be excellent, for example, if we had 500 or more patients enrolled for each type of EB. With such a large amount of information from so many patients, we would be able to study the data and gain insight that might even lead to publishing new findings in scientific journals. Our goal is to be as successful as the registries for other rare diseases like cystic fibrosis (CF), which has enrolled over 80% of the CF patients in the U.S.

EBR: 2013 is here. What will the EBCare Registry team be focused on during this new year?
Jennifer: We are working on translating the Registry into other languages, beginning with Spanish and Japanese. We are also working on developing Registry reports that summarize the key information we have learned about the patients in the Registry. These reports will be shared with the EB community. And finally, we will continue to support DebRA of America and DEBRA International’s efforts to educate patients about the importance of the Registry. We thank you so much for giving us the opportunity to talk to your readers about the EBCare Registry. Our sincerest thanks go out to all of the patients that have participated in the Registry so far. We are off to a great start and we look forward to more patients joining in 2013 and beyond!

Q&A with EBCare, Part I

cardiogramEBCare Registry, developed and funded by the biotechnology company Lotus Tissue Repair in collaboration with DebRA of America, DEBRA International and experts in the field of EB medical research and advocacy. Recently, we connected with Jennifer Gorzelany, an advisor to Lotus Tissue Repair, to discuss the Registry.

In this first part of the two-part interview, Gorzelany shares the history behind EBCare and attempts to clarify misconceptions about the Registry and its mission.

EB Resource (EBR): How were you first introduced to epidermolysis bullosa? What has been your own personal experience with EB?
Jennifer Gorzelany (Jennifer): I have worked at two biotechnology companies that have developed and launched therapies for rare genetic diseases, and I currently work with several companies in similar disease areas. So I have a longstanding interest in rare diseases. Before becoming involved with EBCare and Lotus Tissue Repair, I had never heard of EB. Over the last year, I have had the opportunity to meet many patients and families and have been touched by their stories. I am proud to be associated with the EB community and inspired to do all I can to help.

EBR: And what is the history behind the Registry? When did it officially launch and what led to its development?
Jennifer: DebRA of America, DEBRA International and Lotus Tissue Repair wanted to develop additional ways to help the EB community. Many other rare disease patient organizations and companies have built registries that played a key role in advancing better care and treatments. The success of other registries led to the formation of EBCare and the EBCare Registry. The EBCare Registry was launched in February 2012.

EBR: What have you found to be some of the biggest misconceptions about the EBCare Registry?
Jennifer: A common concern among patients and families is confidentiality. The information a patient or family provides to the Registry is strictly confidential and the Registry is compliant with U.S. and international privacy and data security regulations. Physicians or researchers who want to use the registry information in their work must submit a written request to the EBCare Board of Managers, describing why they would like to use the data. The Board reviews these requests, and Registry information is only shared with the Board’s approval. The information provided to physicians and researchers is “de-identified.” This means that no information that would make it possible to identify a patient or family is revealed.

EBR: This interview is a great opportunity to clarify what the EBCare Registry is all about. Can you tell our readers what EBCare is and isn’t, especially for those who are unfamiliar with it?
Jennifer: The EBCare Registry is the first self-reported registry for EB. Patients or their caregivers can enter much needed information about their diagnosis, symptoms, wound care, medical treatment and quality of life into the Registry. By participating in the Registry, patients supply information that can be used by EB advocacy groups, physicians treating EB, and researchers studying EB — potentially leading to better care and new treatments for the disease. Registries like the EBCare Registry are especially important in the case of rare diseases, because with so few patients, these diseases are often not well characterized or understood. By providing information through the Registry, patients can play a key role in advancing better care and treatments.

The fact that the EBCare Registry includes ‘self-reported’ data is very important, because patient- or caregiver-reported information offers different and potentially more intimate insights about the condition than physician-reported information. For example, an organization like DebRA of America could use the Registry data collected regarding the overall cost of EB to make a more compelling case to insurance companies and healthcare payers as to why the cost of wound care supplies should be covered. Also, companies developing new EB treatments, including Lotus Tissue Repair, are particularly interested in understanding patient-reported symptoms and quality of life information, to ensure that during clinical trials, we more accurately determine what a clinically meaningful benefit is. The answers to these questions are more comprehensive and complete when reported by patients or their caregivers.

As for what the Registry is not, it is not a marketing tool, and participants’ names are never shared without their consent. While DEBRA International, DebRA of America and Lotus Tissue Repair developed the Registry, any qualified researcher whose goal is to help the EB community can request the de-identified Registry data.

EBR: What are the overall objectives of having a registry like this in place?
Jennifer: The goal of the EBCare Registry is to securely and confidentially collect as much self-reported information about the experiences of EB patients and their families as possible, and to provide de-identified disease information to qualified doctors and researchers. By gathering information on how EB impacts the lives of those with the disease and their families, we hope to support advocacy, improve care and encourage the development of new treatments.

EB Champions Worth Celebrating

From time to time, we like to recognize individuals and organizations helping to raise awareness about epidermolysis bullosa and attention and funding for continued research. This month’s featured community contributors are finding their own unique ways to initiate the conversation. How can we take their cue and get others learning and talking about EB in our own respective neighborhoods?

  • Lotus Tissue Repair
    This privately held pharmaceutical company first entered our radar when we learned that they were the sole corporate sponsor behind the new EBCare Patient Registry, a collaboration of DebRA International and DebRA of America, which is the first and only web-based registry currently available for reporting the disease. (In this video, DebRA International COO John Dart answers questions about the new registry and discusses the various ways it could be valuable.) Overall, such an endeavor offers hope for the collection of a greater amount of more accurate and robust data, which could impact interest from researchers, government officials and other private businesses and encourage other corporate entities like Lotus Tissue Repair to get more involved in efforts to better treat and ultimately cure EB.
  • Wyoming Magnolias
    Recently, in a feature story about them in the Casper Journal, we learned about a fabulous foursome who have found a creative way to spread the word about EB with their upcoming community theater benefit, a production of “What Were We Talking About?” On July 20, Gale Alexander, Vickie Cawthra, Gretchen Wheeler and Linda Stoval, known in the Casper community as the “Wyoming Magnolias,” will perform the original two-act play onstage. Alexander’s own granddaughter Joella was born with EB, and proceeds from the production will benefit DebRA of America. The play itself is not about EB but we applaud these awesome ladies for finding a unique and entertaining way to use their theater skills and interest to create a memorable, fun fundraiser to introduce EB to the community in a very personal and meaningful way. Those interested can click here for tickets.
  • Participants on DebRA of America’s Family Stories page
    We love the Family Stories section of the DebRA website, which gives individuals a chance to share their own story, often in their own words. We’ve tried to capture the voices of the EB community through our own “Sharing Our EB Story” blog series. But this section of the DebRA site introduces people of various ages and backgrounds to share their own perspectives about EB. From adults with EB like recent bride Monique to Melissa, a young mom raising a young son also diagnosed with the disease, to the Williams family and son Jonah who frequently blog about a day in the life with EB, collections of stories like these can help us better support one another. They can also help us to cultivate an environment of tolerance and understanding for those just learning about EB for the first time.