EB and the Rare Disease Community

Every year, people around the world participate in Rare Disease Day. Taking place on the last day of February, this declared international event was established to raise awareness among the general public of the prevalence of a group of diseases classified as “rare diseases.”

 

 

 

 

 

 

 

 

Rare diseases may be classified differently from country to country but in the U.S., a rare disease is any disease impacting fewer than 200,000 Americans at any given time, according to the Rare Disease organization website. (In Europe, that classification is used when it affects fewer than 1 in 2,000.) Epidermolysis bullosa is among the list of rare diseases recognized as part of this global day.

 

Rare Disease Day also is an excellent opportunity for the rare disease community to remind health professionals and researchers, as well as public servants and other decision makers about this community’s needs. With greater media exposure featuring events and campaigns being coordinated, those holding economic and legislative power are introduced to the rare disease community’s daily challenges from lack of research funding and treatment support to a need for better education across the general medical community about rare diseases.

 

Hundreds of patient organizations take part in local and national campaigns as part of Rare Disease Day, launched back in 2008 by EURORDIS. What started as only a European event quickly expanded into a global partnership when the U.S. began participating the next year and has since drawn the attention of over 80 countries world-wide and recognizes over 6,000 rare diseases covering a broad spectrum of disorders and symptoms. Every year, Rare Disease Day has a theme. For 2017 that theme is Research and its slogan: with research, possibilities are limitless.

 

What can you do in your own community to raise awareness for EB and other rare diseases this February 28? Events across the globe will be listed on the Rare Disease Day website. Should you decide to hold one in your community, be sure to share your event details so it can be added. For more information about this global event recognizing rare diseases, visit rarediseaseday.org.

EB and the Rare Disease Community

Every year, people around the world participate in Rare Disease Day. Taking place on the last day of February, this declared international event was established to raise awareness among the general public of the prevalence of a group of diseases classified as “rare diseases.”

 

 

 

 

 

 

 

 

Rare diseases may be classified differently from country to country but in the U.S., a rare disease is any disease impacting fewer than 200,000 Americans at any given time, according to the Rare Disease organization website. (In Europe, that classification is used when it affects fewer than 1 in 2,000.) Epidermolysis bullosa is among the list of rare diseases recognized as part of this global day.

 

Rare Disease Day also is an excellent opportunity for the rare disease community to remind health professionals and researchers, as well as public servants and other decision makers about this community’s needs. With greater media exposure featuring events and campaigns being coordinated, those holding economic and legislative power are introduced to the rare disease community’s daily challenges from lack of research funding and treatment support to a need for better education across the general medical community about rare diseases.

 

Hundreds of patient organizations take part in local and national campaigns as part of Rare Disease Day, launched back in 2008 by EURORDIS. What started as only a European event quickly expanded into a global partnership when the U.S. began participating the next year and has since drawn the attention of over 80 countries world-wide and recognizes over 6,000 rare diseases covering a broad spectrum of disorders and symptoms. Every year, Rare Disease Day has a theme. For 2017 that theme is Research and its slogan: with research, possibilities are limitless.

 

What can you do in your own community to raise awareness for EB and other rare diseases this February 28? Events across the globe will be listed on the Rare Disease Day website. Should you decide to hold one in your community, be sure to share your event details so it can be added. For more information about this global event recognizing rare diseases, visit rarediseaseday.org.

Social Media and Support

It has been amazing to see the online EB community grow as much as it has over the past 5+ years. I have watched social media evolve into a means through which we can educate and raise awareness, a feed to interact and communicate and a bridge to minimize distance and connect people. Though EB is still considered a rare disease, our ability to link to one another quickly and on a timely basis about the subject makes the world feel a little less vast. 
 
 
 
 
It was just over six years ago that we first launched the EB Resource blog as well as our Facebook and Twitter pages. At the time, we set out to reach anyone directly impacted by epidermolysis bullosa to provide a place where they could turn to gather information about important resources available to EB patients and their families. We also hoped to begin growing a support network comprised of those profoundly touched by what they learned about EB, people who wanted to do something because of this awareness.
 
 
 
Across the social media universe, we have seen the power of connection and what it can do in all types of communities — whether it is groups of people joined because of a shared cause or concern, like interests or circumstances or a common mission. We have seen the reach of a community’s commitment to retweet and spread information within our own feeds during EB Resource’s annual tweet-a-thon held each October during EB Awareness Week. But we know there is always more we can do here to help facilitate a supportive environment and avenues for members of the EB community to connect. And that’s where we need your help.
 
 
 
As we continue to build the community in the new year, we hope to include other voices and resources we discover along the way and we want you to reach out to introduce them to us. Also, if there are topics or areas of interest you would like to see covered so we can add more value to the blog or create greater opportunities to interact across our Twitter and Facebook pages, we want to hear those ideas from you. Email me at leslie.rader@hollister.com. Help us make 2017 an even better year for connecting for the members of our community. Thank you in advance for helping us to do that.

A Year of Highlights

As all of us wrap up projects and prepare to bring this year to a close, it can be helpful to look back. We can use the occasion to celebrate favorite memories and victories, reflect on losses and the lessons we took away from them and look ahead to a new year and all that it may promise.

 

 

This has been a year marked by milestones and often some big surprises – in the world of technology, science, entertainment, even sports and politics. We had some big moments for the EB community this year. In February, Rare Diseases Day, an international day for bringing greater awareness to rare diseases and with which EB organizations around the world gets involved, had its biggest day ever. New countries took part and more organizations were involved than ever before, and any time greater attention is paid to rare diseases afflicting families among us, this sheds more light on epidermolysis bullosa, too. It was a great victory. It will be wonderful to see what new attention can be garnered in just a few months when the international day of events and campaigns launch again.

 

Specific to the EB community, 2016 marked the return of debra of America’s conference renamed the Debra Care Conference, and there was great turnout! Once again, the event featured many terrific guest speakers and opportunities for EB families to learn, share and interact. Debra also had another successful showing at its annual benefit in October which took place just before the start of 2016 EB Awareness Week. It’s great to see more families taking the opportunity to launch their own awareness campaigns and fundraising events during this time.

 

In our conversations at work and play and online in our social media circles, many of us have remarked how 2016 has been a rough year in terms of loss. We lost so many of our childhood icons and favorite entertainers this year. In the EB community, when we experience a loss, it is deeply personal for any of us who have experienced that ourselves as well as for those who have been intricately involved in EB research, fundraising and caregiving. To our EB families who have been personally touched by loss at home this year, our network of support offers its heartfelt condolences as you move forward into this new year. We know how difficult it will be for you, and we will continue to be there for you every step of the way and encourage you to stay connected to the EB community and as involved as ever, continuing to champion the cause for better treatments, more research and greater support for our families. I know it is a lot to ask, but we as a community are stronger because of every one of us who brings their dedication and commitment to the cause. All of us need each other in this community and that couldn’t be more critical than it is right now.

 

None of us can predict what the new year will hold but I look forward to more opportunities to interact with the families and individuals who make up the EB community. I wish you all a beautiful holiday season and a very happy new year.

Building Your Own EB Team

When we find ourselves facing a challenge, it can feel so much easier to conquer when we surround ourselves with others to support and strengthen. As EB families, this is no different. Epidermolysis bullosa is a complex, devastating and painfully exhausting disease for everyone involved — from patient and caregiver to directly connected family and friends who are in the care circle.

 

 

We frequently blog about the different support resources available that can help us when we feel defeated or struggle with overcoming a specific obstacle. Anytime we reach outside of ourselves we work toward building a stronger more diversified set of skills and attributes in our network, or as I like to think of it, our own team.

 

Here in November – in the heart of college football and pro football seasons and having just finished watching two hard-working teams go at it in the World Series for the major league baseball championship – the concept of teams is familiar to most of us who have taken part in some type of team along the way. Maybe we had a key role on a sports team in school or a specific responsibility on a work team for a project. We know firsthand how critical one player can be to an entire team’s success. Without that person’s contribution, the team’s primary goal can be nearly insurmountable. But gather all of the right talents and place them in the appropriate roles and you have a formula for victory.

 

So who do you have on your EB team? I hope if your family has worked closely with debra throughout the initial gathering of information following diagnosis that you consider me as the organization’s New Family Advocate and debra’s EB Nurse Educator staff as part of your team. What about in your own family and community? Are there particular relatives or other moms in the neighborhood who you have come to rely on for empathy, advice and occasional babysitting support?

 

Consider any source of emotional support a key partner for you and your family, such as a family priest or spiritual advisor; a counselor or therapist; and any parental support groups. Of course, your collective medical team from your primary physician to any specialists with whom you have worked to address medical or dental issues that may arise, all of these valuable care professionals are a part of your EB family’s team.

 

As with any team, its success depends on communication. It is important for you to keep others abreast of any new changes – for example, if a new medication is being introduced (or eliminated), anyone who may engage with your family member with EB in a caregiver role needs to be aware of such changes. As you grow your EB family’s team over time, keep in mind that their success in helping you depends on how open you are to receiving their help but also keeping everyone on the same page when it comes to the latest information about you and your family.

Helping the EB Community Be Heard

Every year, EB communities across the globe take this upcoming week to reach out to others and educate them about epidermolysis bullosa. EB Awareness Week is recognized and runs October 25 through October 31 in 112 countries around the world. During this time, many organizations focused on the disease coordinate awareness campaigns and fundraising events to not only draw more attention to a rare disease still unknown to many but also to support efforts to develop better therapies and a cure.

In the past at our blog, we have offered many suggestions for how you can make the most of your EB Awareness Week including tips for planning fundraisers and plotting out your own awareness campaign. This week, we want to ask you for some assistance. In addition to coordinating your own activities and support for others’ events, you can help us this Tuesday and Wednesday.

 

Once again, EB Resource will be holding its annual 24-hour EB Awareness Tweetathon. During this time, we will tweet every hour starting at noon on Tuesday, October 25, the first day of EB Awareness Week and continue to post through noon Wednesday, October 26. Our theme this year is EB: Just the Facts, Ma’am, and we will be focused on sharing some things about EB that followers may or may not realize about it.

 

So what can you do? Share, share, share! Retweet our hourly tweets to your own followers including our hashtag #RT4EB16 and send out any of your own tweets about EB with the same hashtag in support of our EB Awareness campaign. Help us spread the word and educate others about a disease so few people understand.

 

Good luck, everyone, in your efforts to raise EB awareness this week. Be sure to share with us all that you’ll be doing, too, at our Twitter and Facebook pages. And don’t forget to stop by our Twitter page and help out, starting Oct. 25 at noon for 24 hours straight!

Reflections on DCC 2016

This year’s Debra Care Conference in Grapevine, Texas (just outside of Dallas) held July 24-27 offered many of the same valuable experiences as past events but it definitely felt like a new and different event. I wanted to share some observations and thoughts about the conference, including some changes or additions. The first noticeable change on the surface is the name, of course, taking on the organization’s identity as part of the conference title. This was a really good opportunity for families in attendance to connect with various individuals associated with the organization and specific resources available through the organization.

 

 

Each conference leaves its own distinct impression and carries a unique flavor from its predecessors in part because it is hosted by a new city and state when it is held every two years. This was the sixth event I have been a part of but I will admit that my own experiences are shaded differently than other attendees as I am on the Board for debra of America, I do work for a wound care company and was an EB parent, so I bring a unique balance of a variety of emotions to this event each time I attend.

 

I especially love seeing what the planners will offer children attending in the way of activities at that year’s venue. This year, the play area was in the same room as exhibitions and included everything from superheroes and cheerleaders to storytellers, musicians and even a monkey! Everywhere I looked, children were having a blast. One amusing aside: there was a sheriff’s convention being held there on the property at the same time as the DCC. The kids really made quite an impression on the officers in attendance, because they made a point of returning to the kids’ room to talk with them. These tough, no-nonsense authority figures suddenly became like big teddy bears as they interacted with the children. It was beautiful to see.

 

If you asked me what my favorite presentation was, I would not be able to single out any one person. I am always in awe of the extremely intelligent and genuinely caring health care professionals who work so hard to help EB families and take part in this event to meet them and answer questions. I enjoyed listening to all of this year’s presentations.

 

I did spend much of my time talking with attendees in the exhibition hall located just outside the presentation room. Another favorite part of the event for me is getting to visit with the families, some whom I have known for the past 12 years and other new families that I get to meet for the first time at the conference.

 

As always, I was very impressed with the Gaylord Hotels staff. This was the third conference in a row hosted by a Gaylord hotel, this time at the Gaylord Texan Resort and Convention Center, and I am constantly amazed at how well they accommodate such a large group of people. The unique way they can bring the outdoors inside and provide a setting that is safe, warm and uplifting to truly welcome our EB families is outstanding.

 

One of the changes made to this year’s schedule was that debra began many of the presentations later in the morning which was helpful to those families who needed the extra time for bandage changes in the morning or who wanted free time to explore the beautiful hotel. In general, there were more opportunities for free time this year which is a wonderful thing when families are getting the unique chance to meet up and visit with each other, and let their kids play together in a fun, safe environment.

 

A final side note: This year’s conference fell on my daughter’s birthday (she would have been 13 this year). It made being at this particular conference a little harder knowing that she could have been one of the kids hanging out in the teen room. But that is not the path I was given. I would not be working for a wound care manufacturer if it wasn’t for the experience she gave me. She has helped me help others and that is what was meant to be.

 

I hope everyone who got a chance to attend this year’s event took away valuable information and many happy memories. I look forward to the 2018 event already.

Preparing Your Butterfly Child for School

*Information provided in this blog is not medical advice and is not intended to, and does not, replace the advice provided by your health care professional. Always seek advice from your licensed healthcare professional in regards to any healthcare needs.

 

It’s that time of year again when families transition into different schedules and routines: the start of a new school year. For some in the south, its already begun. For our friends in the north, it looms.

 

For EB families, the school year presents its own set of challenges as parents have to worry not only about children’s usual needs like outfits and school supplies but also about ensuring their child’s physical safety offsite in an environment not likely to be EB-friendly. In the past, we have blogged about things you can do to support your child and work toward a healthy and fun school experience.

 

  • Plan Ahead:  a few years ago in a blog titled “Connecting with Your Child’s School about EB,” we offered different things you could do as a parent to set up your child for comfort and success in his or her new weekday surroundings. These may include everything from packing a bag of extra comfortable clothing to be stored in the classroom to scheduling a private meeting with the school nurse and teacher to discuss your child’s health challenges beforehand.
     
  • Start a Conversation:  in another past blog titled “Bringing Your Child’s School on Board,” we noted various ways you can initiate a discussion about EB in your child’s school and what people you may want to get involved in the talk. The first step in educating others is introducing them to the language and basics about epidermolysis bullosa. With the use of some other key sources of information and educational resources, you can begin to build a support network of educational professionals also looking out for your child when he or she is away from home.
     
  • Lean on Others:  we may say this often, but it is true — we are all here for each other. Our online community of EB patients and their families continues to grow and other families can be a great source of ideas and support for challenging life transitions such as sending our butterfly children to school. In another previous blog titled “Families Helping Families,” we note that social media tools can be invaluable for reaching out to other parents with questions or polling them about challenges that come up during the school year. As long as we are sharing our experiences with one another, we can all become better equipped to handle whatever comes our way, and as EB parents who have already guided our children through the transition to school, we always have that gift of experience to offer others.

EB Research Update, Summer 2016

A variety of clinical trials are currently recruiting participants or already in progress that could ultimately benefit the EB community with its findings. Using the U.S. National Institutes of Health (NIH) website, we are able to offer a useful summary of these research trials that have been logged by the NIH.

 

Currently, there are 20 open, international, EB clinical research trials listed as active, with four of the studies not yet recruiting and four of the other international studies listed with unknown recruiting status. Of the remaining 12 EB research studies which are open and recruiting, seven of them are being run within the United States and five are active in other internationally-based locations.

 

The following summary spotlights key background information related to the seven open and recruiting U.S. studies. For the complete, up-to-date details about each of the EB studies open and recruiting here in the U.S. as well as internationally, please visit the NIH’s Clinical Trials page here: http://clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&recr=Open.

 

The following is not an endorsement but a brief summary of EB clinical trial background information available at this time and is strictly for informational purposes only. For more information, visit the links provided. You should also consult your health care professional and thoroughly understand the potential risks involved with a clinical trial before you participate in any clinical trial. We take no responsibility for any results or outcomes associated with the following clinical trials.

 

 

  • Study of Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa. Sponsored by Scioderm, Inc., the target of this study is to evaluate the efficacy and safety of SD-101-6.0 cream versus a placebo in the treatment of EB. Launched in November 2009 and last verified in June 2016, this study is currently recruiting participants in various locations across the U.S. including the University of Missouri (St. Louis, MO), Stanford University Dept. of Dermatology (Redwood City, CA), University of Colorado School of Medicine (Aurora, CO), Ann & Robert H. Lurie Children's Hospital of Chicago (Chicago, IL), Washington University School of Medicine (St. Louis, MO), University of North Carolina School of Medicine (Chapel Hill, NC), Cincinnati Children's Hospital Medical Center (Cincinnati, OH), Seattle Children's (Seattle, WA), 'Specially for Children (Austin, TX) and Texas Dermatology and Laser Specialists (San Antonio, TX), as well as in France, Italy, Germany, the Netherlands, Austria, Poland and the U.K. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. Jean Yuh Tang at Stanford University is also conducting a strictly observational study by screening subjects with DEB to evaluate the characteristics of these patients, who may develop severely painful blistering and open wounds. First launched in November 2009 and last verified in March 2016, this trial involves the study of cells to support the development of future therapy strategies. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Stem Cell Transplant for Epidermolysis Bullosa. Launched in January 2010 and last verified in May 2016, this study by the Masonic Cancer Center at the University of Minnesota attempts to test a primary hypothesis that the infusion of bone marrow or umbilical cord blood from a healthy donor will correct a collagen, laminin, integrin or plakin deficiency and reduce the skin’s fragility caused by severe forms of EB. A secondary hypothesis also examines the impact of mesenchymal stem cells from a healthy donor on the safety and efficacy of an allogeneic hematopoietic stem cell transplant. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. This study launched in December 2010, led by principal investigator and associate professor at Stanford University Jean Yuh Tang, and was last verified in March 2016. The interventional study is a collaboration between the university and the National Institute of Arthritis and Musculoskeletal and Skin Diseases. During the study, researchers create a graft of the participant’s skin that has been genetically engineered in a culture to attempt correcting the cellular protein deficiency that led to the RDEB. Investigators then transplant the “corrected” cells back onto the patient’s skin. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin. Launched in September 2015 and last verified in October 2015, this study led by Johns Hopkins University (Baltimore, MD) features adult participants who will apply a broccoli sprout extract-jojoba oil compound to one arm every night under occlusion for a week with Jojoba oil alone applied to the other arm. At the end of that week, a 6mm punch biopsy will be taken from both arms and analyzed via polymerase chain reaction (PCR) and immunohistochemistry for differences in skin proteins.  For more information about this study, click here to link to ClinicalTrials.gov.
     
  • MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs. As one of the newest studies launched in March 2016 and last verified in May 2016, this study by the Masonic Cancer Center at the University of Minnesota is a phase II study established to determine the event-free survival at 1-year following an allogeneic transplant and serial mesenchymal stem cell (MSC) infusions from a related donor or matched unrelated donor for the biochemical correction of severe EB. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB). This study, launched and verified in June 2016, is led by Fibrocell Technologies and administered at Stanford University (Stanford, CA). The purpose of the study is to evaluate the safety of FCX-007, C7 expression and the presence of anchoring fibrils resulting from FCX-007 and to analyze wound healing as a result of FCX-007 administration in subjects with RDEB. For more information about this study, click here to link to ClinicalTrials.gov.

A Revamp of Hollister Online

 

Many of the parents I speak with are always on the lookout for the latest information about wound care products available to address their families’ needs. Understandably, they want to find whatever supplies will offer as much physical comfort as possible to their loved one facing EB. I often direct people to the Hollister Wound Care website to get additional information about wound care.

 

Recently, Hollister revamped its website (hollisterwoundcare.com) so I encourage members of our community to stop by should they have questions about any of Hollister’s EB-friendly products, such as its various Restore dressings featuring TRIACT technology, Endoform Dermal Template Dressing, as well as Restore Wound Cleanser and Restore DimethiCreme Skin Protectant. One of Hollister’s newest products that also may be of interest to EB families is the TRIACT Foam Dressing with Silicone Border, which can be another alternative for those people currently using foams with a silicone border or who already know they can tolerate border products.

 

The Hollister site features a special section devoted to offering educational materials called the Wound & Skin Care Learning Center, which includes videos and educational booklets to better demonstrate Hollister’s various product lines. The website also includes Educational Resources for Healthcare Professionals. This section is designed to offer additional support to those in the medical field who wish to stay as current as possible about the latest wound care technology and gain a greater understanding of the materials their patients and their caregivers may be using on a day-to-day basis.

 

If you have any questions at all about where to locate information on the website or about any of Hollister Wound Care’s EB-friendly product lines, please don’t hesitate to reach out to me with your questions. You can email me at leslie.rader@hollisterwoundcare.com. I’m happy to assist or direct you to the best person to help.