EB Community Goes Beyond Sea to Shining Sea

 

As we Americans recover from our Independence Day festivities, I thought I would take a moment to remind all of us just how broad the EB community is. Because it is such a rare disease, EB families can feel alone sometimes or like they are part of a very small network of communities scattered across different parts of the country. But as a greater number of people become familiar with epidermolysis bullosa here as well as abroad, the community at work to raise EB awareness and research funds, and tackle the clinical challenges at hand becomes bigger. International efforts are in place across the globe to find better treatments and work toward a cure.

 

In addition to the Debra International alliance hub based in Vienna, Austria, there are 50 Debra member groups established throughout the world. Besides debra of America, a number of very active networks support EB families in Australia, Canada, the United Kingdom, Ireland, France, Germany, India, Italy, Japan and Switzerland, to name only a few.

 

There are also research clinics and universities who have committed to Debra International’s EB-CLINET Partner program, a network of EB centers and experts designed to establish a centralized global site for the exchange of EB knowledge and clinical experience. Members of this international network are scheduled to meet at its fourth conference this September in Salzburg, Austria. It will provide participants a helpful, in-person opportunity to interact and share valuable clinical information with each other.

 

EB without Borders is another program that has been established (through Debra International) to support EB patients and their families in countries where there may be no support or debra member group yet established. Participating Debra member groups who support this initiative might provide these other countries in need mentoring support for the physicians trying to help the families, or other specialized services, supplies or knowledge.

 

EB clinical research and awareness campaigns are underway around the world. Though it may feel at times like we are alone as EB families, thousands of people across the world are not only facing similar challenges but have set out to conquer the same goals in mind: creating better treatments for this disease and hopefully one day eradicating it completely.

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.
 

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.

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!

DEBRA International Congress 2012

Last month, I had an opportunity to attend DEBRA International’s annual meeting of DEBRA groups from countries all around the world. DEBRA Canada and Canada’s Hospital for Sick Children (“Sick Kids”) served as hosts for the DEBRA International Congress 2012, which ran from Sept. 13-16, 2012, at Toronto’s Fairmont Royal York Hotel. It was a fascinating and educational experience to be able to interact with a mix of physicians, nurses, researchers and families representing 25 countries, all coming together to share information and collaborate on common goals for the benefit of EB families.

DEBRA International made it known at the event that one of its top priorities is to encourage collaboration among the various DEBRA organizations worldwide to define and establish EB care guidelines in a number of clinical areas to be published on its website as well as within medical journals throughout the world. Their goal is for these guidelines to be made available to physicians everywhere to better understand the EB patient and best serve these patients and their families. Once created, the guidelines will be made available in as many languages as possible to serve medical communities across the world. But as with any set of guidelines, creating these take time. There are currently efforts in place to establish wound care, nutrition and pain management guidelines, and dental guidelines were just formally published by the group last month. Click here for the link to DEBRA International’s dental guidelines for EB patients.

This year’s program was broken out in such a way that each day had a different focus. Day One featured segments on EB family topics, including pain management, school issues such as bullying, skin care and nutrition. Day Two concentrated on the various care guidelines that several countries have in development with particular emphasis on the various wound care efforts from Italy, Canada’s Toronto Accord and the UK.

Day Three was all about research and offered a closer look at the EB studies in progress currently as doctors from across the world discussed their work. Dr. Jakub Tolar addressed the congress about his bone marrow transplantation procedure; Dr. Peter Marinkovich introduced his study, gene transfer for human recessive dystrophic EB; Dr. David Woodley discussed protein replacement therapy; Dr. Sarah Atkinson of the UK discussed her siRNA Therapy study; and Dr. Gabriela Petrof also of the UK shared the latest about her clinical trial studying the role of allogeneic fibroblast cell therapy in RDEB patients. During the final day of the conference, Day Four, attendees were able to be part of break-out workshops covering such specialized topics as nursing, nutrition, physical and occupational therapy and psychosocial issues associated with EB.

During the conference, DEBRA International unveiled its newly upgraded website and gave others a chance to educate attendees about their programs. For example, I learned about EB Without Borders, a group of DEBRA organizations from around the world who have joined forces to support EB patients and their families in those parts of the world where there is no DEBRA organization already established. And once again, I had a chance to meet up with the EBCare registry team, a group gathering data to establish an EB database. I learned something new that I was not aware of – that those families like mine who had lost a child previously to EB can also register with the database; it is not solely families currently facing it on a daily basis. Their representatives encouraged all families at any time impacted by EB to get in touch with them to get registered and become part of this valuable international database. The more information they are able to gather, the more thorough and complete picture they can build about EB families – who they are and how they are being impacted by this devastating disease.

All in all, it was an enlightening conference for attendees fortunate enough to take part. I’m happy to be back home from travel time away from the family, but it was educational and very encouraging to get to hear from and meet so many people committed to working together to better understand EB, to improving treatments for EB and to developing a cure.

For more information about this year’s event, check out DEBRA International’s 2012 Congress website at www.debracongress2012.com.

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.

Free EB Information Resources

Frequently in my role as a New Family Advocate with DebRA, I’m asked “Where…” Where can I find information, where can I find free supply samples or other resources, where can I find other families going through what we’re experiencing? It’s a common concern. No one wants to feel alone, especially when we’re faced with something unfamiliar, and let’s face it, somewhat complicated and certainly frightening as a parent, as a person living with EB or as a friend or loved one trying to show support.

These are just a few of the free resources I’ve come upon in my ongoing search for tools and information for EB families. (Please note: the first three links below are to posted PDF files not web pages, so don’t be alarmed when prompted about continuing to open the file.) I hope you find these useful and welcome suggestions for other resources worth checking out. Feel free to email me at leslie.rader@hollisterwoundcare.com with your own recommendations.

*The following suggested links are provided as a courtesy to the EB Resource community to help its members find references easily and is for informational purposes only. The links referenced are not intended to be a substitute for the advice of your personal health care provider, nor should it be used to seek help in a medical emergency. If you have any questions, please consult your health care provider.

Sources:
DEBRA International
Stanford School of Medicine, Dermatology Department, Genetic Skin Center
National Institute of Arthritis and Musculoskeletal and Skin Diseases
DebRA of America
EB Friends

Related Posts:
Learning from Each Other, Part 1
Learning from Each Other, Part 2
The Everyday Challenges of New Parents

Caring for the Caregiver

Caring for a family member can be a tremendously stressful responsibility. When it’s your child, it can be both physically and mentally draining, as well, as you must come to terms with watching your child face health obstacles you never imagined he or she would ever have to face. There are a number of ways caregivers can re-charge themselves to stay strong and helpful resources available that can offer both information and emotional support to parents and other designated caregivers.

• Reach out to others sharing similar experiences.
Caregivers are given the difficult task of staying positive and hopeful while handling day-to-day care giving responsibilities which aren’t always so encouraging sometimes. Where possible, reach out to others in the family for help in care planning and care giving. Also, you can seek help through other communities – local support groups at your nearest healthcare facility and faith-facilitated groups to avoid feeling isolated and disconnected.

• Make time for your health – physical, mental and spiritual.
The level of stress that many caregivers experience may lead to chronic illness or even depression. While it can be difficult to make time for yourself as a caregiver, it may mean the difference of being able to physically care for your child or not. Schedule time for regular exercise or meditation to replenish, whether it’s a daily appointment with yourself for a walk in the neighborhood, time at the gym or yoga. Many caregivers also experience lack of sleep or good nutrition. Your strength and effectiveness as a caregiver depends upon your good health, so make an unwavering contract with yourself to get the proper number of meals and hours’ sleep needed to feel fresh and focused. Remember the analogy of airlines’ safety procedures: always put your own oxygen mask on first before turning to assist others.

• Explore online support resources.
There are several valuable web sites designed specifically to provide support to caregivers including the National Family Caregivers Association’s (NFCA) website (www.thefamilycaregiver.org) and the Family Caregiver Alliance site (www.caregiver.org). This NFCA link offers a comprehensive list of various agencies and websites, some specific to the kind of caregiver help being provided (such as for children or for the elderly). (http://www.thefamilycaregiver.org/caregiving_resources/agencies_and_organizations.cfm)

• Stay involved in your own community.
It can be helpful to caregivers to get involved in their own neighborhoods, contributing time to other people and causes, sharing their family’s story to provide awareness for EB to other families and experiencing the immediate support and feedback from others in their community while still giving back. Seeing direct results of your efforts can help you stay motivated on your own mission at home to care for your child and help extend your support network beyond your usual family and friend circles.

• Don’t delay in seeking professional help if you need it.
If you’re experiencing any health issues, it’s important to schedule an appointment for yourself with a doctor right away. Ignoring symptoms of potential medical issues or depression may only make things more difficult later if you’re unable to care for your child. Give yourself the proper attention you need and deserve for your own safety and well-being and so you can continue to provide the loving care and support your child needs.

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Safe Celebrating This Holiday Season

Any parent wants to ensure their child’s safety during the holidays. After all, children tend to be around the house more during winter break so more opportunities to play can mean greater potential to get injured if enthusiastic playtime gets a little out of hand. And of course, many families travel for the holidays too, so being in unfamiliar places requires planning ahead and taking extra precaution for your family member with EB.

  • Think soft and be prepared when planning holiday travel.
    If you’ll be spending a good deal of time on the road driving to relatives for family celebrations, remember to pack additional soft blankets in the car. Don’t forget to bring your basic wound care supplies just in case you need to wrap an opened wound or drain a blister.
  • Bring your own bedding.
    If you’ll be staying at a family member’s home, be sure to pack soft sheets (i.e. jersey knit sheets) and additional blankets for a more comfortable night’s sleep.
  • Educate family gift-givers beforehand of special EB needs and consideration.
    Be sure to let others know the kinds of materials that work best for those with EB (namely, soft, stretchable cotton knit without any kind of special embroidery, appliqués, snaps, buttons or zippers). Also, remind shoppers to avoid sharp-edged toys that can be difficult for children with more severe wounds or blisters to handle or play with.
  • Always bring along extra hand sanitizer in your bags.
    An EB patient must ensure that any wound care is done in a sterile, sanitary environment so pack an extra hand sanitizer or two so you have one wherever you need it. With so many people around at one time, lots of physical contact through hugging, gift exchanging and handling of dishes and other objects by multiple people, there’s a greater risk for the transmission of germs. Be ready for them.
  • Pack iron-rich and protein-rich snacks.
    Keeping up optimum iron levels is especially crucial for those EB family members suffering from anemia, so pack small bags of nuts or dried fruit for that extra boost of iron. And since travel can get tiring, it also may help to pack protein-rich goodies like mozzarella cheese sticks or instant breakfast flavored packets to be added to milk (provided they’re not lactose-intolerant).

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