Facing a Rare Disease

February 28 marks Rare Disease Day. For many families facing a rare disease, such as epidermolysis bullosa, it can be as taxing physically and emotionally on caregivers as it is on those diagnosed. Rare Disease Day is an international day of awareness established to educate those in the medical field, those in media, and those who create and enforce public policy that can directly impact these families.

As with previous years, Rare Disease Day 2015 will be comprised of campaigns across the globe intent on reaching hundreds of thousands of people and generating media buzz to be capitalized on by bloggers, tweeters, and interactive Facebook communities like ours in this era of social media and grassroots campaigning.

Although Rare Disease Day started in Europe in 2008 by EURORDIS and the Council of National Alliances, it has grown into a collaborative international effort worldwide connecting health professionals, legislators, researchers, and those in industries serving rare disease communities such as the EB community. Last year, a new record-high 84 countries participated in the awareness day.

For many families facing a rare disease, much of the battle is locating support resources, and accurate, timely health information. Some helpful sites focused primarily on providing relevant information about thousands of rare disease, such as EB, include:

For more information about Rare Disease Day or to see what related events may be taking place near where you live, visit www.rarediseaseday.org/. If you have been planning your own event to reach area media on the designated date, make certain to post it at the Rare Disease Day site so others can come out to support your campaign.

What’s Next for the EB Community?

As we begin a new year, it is exciting to anticipate what lies ahead. Each 365 days we get a few steps closer… closer to educating more people about the skin disorder; closer to reaching more recently diagnosed patients and their families to get tools and information into their hands that they may need; and closer to connecting more clinical researchers to develop better treatments or even a cure in the future. EB awareness has been a core mission for us here at the EB Resource blog since the beginning, and that has not changed. It is just one goal amid many and some very specific missions at other EB-focused organizations, such as DebRA, the EB Research Partnership, EBMRF and other dedicated groups.

Every year, our community grows. New families are touched by the disease, and often their family and close friends join our circle and demonstrate a willingness to learn and share their new knowledge with others. And as that circle expands, we have a greater opportunity to communicate more broadly than we did before and inspire others to ask themselves questions, such as: how can I use my sphere of influence to get the word out about this disease? What talents or skills do I have that could possibly lend themselves to support EB families or campaigns to assist them? And are there specific actions I can take in terms of events, campaigns or community/political involvement that may make a difference for EB resource fundraising, research progress or other tools to support the cause?

Each year, the medical community re-examines current clinical trials underway and frequently launches additional research to test new treatments by working closely with EB patients and their families. What new trials might 2015 include? It is too early for us to share here, but, as always, you can expect we will be keeping our eyes and ears focused on the latest news of these clinical trials and sharing with you what we learn.

A new year is a wonderful time to look back and assess, as well as look ahead and target those things we want to do. So we suggest at this ideal time, the start of a fresh new year to ask yourself the question, 'what is next for the EB community?' Because that will also be very much up to you to decide. And we look forward to a new year of educating others about EB with you.

A Year of Enlightening

Every time the year comes to a close, it is a great chance to reflect on all that has taken place. There are so many new people we have been introduced to within the EB community and, of course, many big events we have shared together, the biggest of course being the bi-annual Patient Care Conference (PCC). What a wonderful event that was hosted by DebRA of America and the team at Gaylord Opryland Resort and Convention Center in Nashville this summer.

At this year's PCC, many families got an opportunity to interact with those deeply entrenched in the latest medical research and clinical trials revolving around epidermolysis bullosa treatments and the search for a cure. They also got the chance to meet with others diagnosed with EB and their families. Nothing is more inspiring than finding out we are not alone in our challenges and getting valuable insight as well as practical suggestions about caregiving, food and shopping challenges, and other areas of living with EB. This year's event sought out to educate families, the medical community and others directly impacted by those facing EB, and it certainly succeeded at that.

Once again, we launched our own interactive effort to make more people aware of EB with our annual EB Tweet-a-thon during EB Awareness Week in late October. Hope you were able to take part and share some if not all of our RTs posted hourly for 24 straight hours. If we even educated just a few dozen new people about this rare disease they had never heard of before, then collectively, we helped raise the presence of these families in need of support both from their neighbors and medical communities worldwide.

Education is a powerful tool to make things happen. Each time we take even a few moments to share information with another person or group of people, that shared knowledge holds the power to affect change or compel others to take action. I don't know what resolutions you may be settling in on for the new year, but I do hope one of them is to continue helping to raise EB awareness by whatever means available to you.

Thank you, everybody, for all of your support this year at the blog and in our Facebook and Twitter communities. We look forward to a bright, promising new year with each of you. Best wishes for a safe and happy holiday season.

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!

EB Awareness Week

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

EB Awareness Week is nearly here, an annual, international campaign to educate others about epidermolysis bullosa as well as garner support for EB families. Each one of us has the ability to make a difference and be a part of this collective effort. EB Awareness Week runs from October 25 through October 31. How will you be involved?

Here are some suggestions:

•    Support events far and wide in any manner possible.
Visit sites like DebRA of America, the EB Research Partnership, EBMRF and others for information about local and national events taking place during EB Awareness Week. Spread the word via social media platforms so that others who are located in those areas can take part and find ways to show your own support whether near or far, either through fundraising or promotional means.

•    Coordinate your own virtual or in-person EB Awareness event.
It’s not too late to kick off a fundraising or awareness campaign online or host a small event at work or in your neighborhood. Check with your HR representative about holding an informal fundraiser at the office or find out what is required to set up an information table outside your community center or local library.

•    Spread Your Own EB Message to Raise Awareness.
Do you blog? If so, why not include a special entry during EB Awareness Week? Or better yet, maybe blog something different about EB that people may not be aware of or post on a social media platform a different EB-related link each day. We appreciate you including EB Resource for one of them, if you do!

•    Extend a Hand Wherever It Is Needed Most.
If you personally know an EB family, take this time to reach out to them this week and offer to pitch in with some errands to alleviate stress. Or better yet, ask the parents what you and your family could do to best support them. Sometimes people are afraid to ask for help but when an offer is extended, it may be just what is needed.

•    ‘Pass It On’ During Our Upcoming Tweet-a-Thon.
Every year we take 24 hours to devote entirely to tweeting about EB hourly. We ask those who follow the EB Resource Twitter page to RT as many if not all of our tweets designed to introduce EB to those unfamiliar with the skin disorder and demonstrate ways they can get involved to learn more or be a part of the movement to find a cure and better treatments for EB. We simply ask those who RT to include our designated hashtag #RT4EB. So look for that Tweet-a-Thon to begin 9 a.m. Tuesday, Oct. 28 and run through 8 a.m. Wednesday, Oct. 29.

Connecting with Your Child’s School about EB

*The information provided in this blog is not medical advice and is not intended to, and does not, replace the advice provided by your healthcare professional. Always seek advice from your licensed healthcare professional in regards to your healthcare needs.
Heading back to school can be difficult for parents and children everywhere. When there's also the challenge of an EB diagnosis, it requires some additional planning and preparation. Much of that has to do with educating professionals who may be around your child with EB for great lengths of time. We have assembled a few tips here to help you do that.

  • Send a standard wound care supply box and instructions with your child. In the event that an onsite school nurse needs to apply a new bandage to your child, or the child will be going offsite for a field trip, you may wish to provide the teacher with a clearly marked supply box indicating order of bandage application as well as related items like scissors, gloves and ointments.
  • Pack a bag of extra clothing to leave stored in the classroom. This might include slippers, additional socks and a change of clothes should your child experience any painful or draining wounds, or other skin trauma from outdoor play or other activities.
  • Provide important contact information beyond parents' numbers. Consider giving your teacher and school nurse EB-specific contact information including the website for DebRA of America (www.debra.org) and the email address for DebRA nurse educator, Geri Kelly-Mancuso RN (nursegeri@debra.org). For more information about her role, as well as phone numbers and hours of availability, click here.
  • Share DebRA's classroom video that defines epidermolysis bullosa for those unfamiliar with it. DebRA offers a practical look at EB via video segments designed specifically for teachers to share with their students as well as their colleagues. This is a free resource produced by The Children's Hospital of Colorado. The two-part DVD "What is EB and Your Welcoming Classroom" introduces what it means for a classmate diagnosed with EB, dismisses myths or confusion about the skin disorder, and reviews ways staff and classmates can support the student. For more information about obtaining a copy of this DVD, click here.
  • Before your child is set to arrive, schedule a meeting with the teacher and, if possible, the school nurse. Sometimes the most successful strategy to educate others is to simply offer the opportunity to sit down and discuss what is at hand. You can answer educators' questions and pose your own to get a sense of the protocol they must follow at their school. During such a conversation, you may also discover some gray areas yet to be worked out and discussed further.

Fall Fundraisers & EB Awareness

It’s hard to believe that EB Awareness Week is only two months away. Have you begun making plans to initiate any fundraisers or EB awareness events in your community for later this year? We’ve rounded up the list so far of events taking place both during this special national awareness week, and also during the remainder of the year.

If you know of any additional events being held this fall or early winter, please let us know. You can email me at leslie.rader@hollisterwoundcare.com or let us know in the comments on our blog or Facebook and Twitter pages. We appreciate you helping us spread the word about the great ways people are educating others about EB.

Currently, these are some events to be aware of taking place later this year.

  • First Annual Butterfly 5K (Lore City, OH)
    Those in the Buckeye State can come out for the debut of this special 5K event in honor of Hannah Blake, which starts at 10 a.m. Saturday, Sept. 20 in Salt Fork State Park, located at 14755 Cadiz Rd. This promises to be a fun family event with music, food, raffles and a 5K open to runners, walkers, as well as those with strollers and wheelchairs, too. For more information, click on this event link.
  • 16th Annual DebRA of America Benefit (New York, NY)
    This event to celebrate the official kickoff of National EB Awareness Week is scheduled for 7:30 p.m. to 10:30 p.m. Wednesday, Oct. 22 at the B.B. King Blues Club, located at 257 W. 42nd St. The evening will feature casino games with proceeds to benefit the organization’s various programs. For more information, click on this event link.
  • TCS New York City Marathon, Team DebRA (New York, NY)
    Show your support by raising funds or participating in the world’s largest marathon as part of Team DebRA. It will take place on Sunday, Nov. 2. All proceeds benefit DebRA of America. Kudos to this year’s list of participants so far – click here for a peek at that list. For more information, click on this event link.

Gearing up for Patient Care Conference

It’s hard to believe that DebRA’s 2014 Patient Care Conference is only two weeks away! The PCC is such a significant event for those in the EB community, and it offers families and those diagnosed with EB a chance to meet and learn from one another as well as interact with and hear from EB advocates and respected members of the medical field discuss the latest treatment and research news. Although registration is closed for the event, there is still time to get prepared for this upcoming event which only takes place every other year.

This year’s event is scheduled for Wednesday, July 30 through Saturday, August 2 at the Gaylord Opryland Resort & Convention Center in Nashville. The 2014 agenda features a variety of speakers who will talk about such topics as bone health, oral care, genetic testing, blood and marrow transplantation and much more. For a glimpse at this year’s preliminary agenda, click here.

There will also be an area for guests to meet exhibitors, such as bandage manufacturers like Hollister Wound Care and others. I encourage you to stop by the exhibitor area. It can also be a very valuable use of your time. It’s a great opportunity to pick up samples of products you may have heard of but not yet tried, or to ask questions and become more educated about products you’re already using or considering.

As in past years, DebRA organizers have thought ahead and set up some wonderful activities for the children to take part in while parents are attending presentations with well-stockedl playrooms onsite. Kids will have the chance to play together and enjoy games, movies, toys, books, arts and crafts right there near the main conference area. There will be volunteers overseeing the playroom at all times though kids under five years old will need to be accompanied by an adult. At every PCC there is a unique family event planned, and this year it’s a field trip on the General Jackson Showboat to take place Thursday, July 31 from 1 p.m. to 6 p.m.

Anyone who has ever visited a Gaylord hotel knows that these are unbelievably beautiful and large hotels with such a lush and comfortable environment and beautiful indoor botanical gardens, cascading waterfalls, and plenty of places to stop by and see onsite, so it promises to be a fun event for all.

I’m excited about this year’s event and getting a chance to meet everyone, to see some familiar faces, and become acquainted with some new members of the EB community. And I’ll be sharing some thoughts about this year’s event later on this summer but if you’re unable to attend, you can keep up with it daily on a variety of social media including DebRA’s Twitter and Facebook pages. And if you are going, they’ve asked any of us who might be doing some tweeting or Facebook posts of our own to use the hashtags #debraPCC and #EBawareness.

For more information about this year’s event, you can visit the main PCC page at www.debra.org/pcc2014. If you see me there, be sure to stop by and say hi. I look forward to seeing everybody soon!

Wound Care Supplies

As new wound care supplies are developed, we’ve tried to use this blog as a means of educating families about different alternatives available. At Hollister Wound Care, we have a comprehensive line of wound care dressings that address different needs according to the severity of EB and other skin issues that may have resulted because of a diagnosis with epidermolysis bullosa. The list below is designed to offer a brief overview of the various kinds of dressings available through our wound care offerings at Hollister. More information is available at our website at www.hollisterwoundcare.com but if you have any other questions, you know you can always reach out to me directly at leslie.rader@hollisterwoundcare.com.


  • Restore Foam Dressings and LITE Foam Dressings
    Featuring TRIACT ADVANCED Technology, these super-absorbent dressings may be helpful for patients facing chronic wounds with light to heavy exudates (LITE foam dressings) and moderate to heavy exudates (standard foam dressings), as well as wounds with fragile surrounding skin. As exudate passes through a contact layer into the foam pad, the wound drains vertically and surrounding skin is protected from excessive softening. For more information about this wound care option, click here to learn about standard Foam Dressings and click here to learn about LITE Foam Dressings.


  • Restore Contact Layer FLEX Dressings
    With a flexible mesh and gentle tack to make it easier to apply to hard-to-wrap areas, these dressings incorporate TRIACT® Technology and are highly conformable. They are also non-adherent, ultra flexible and maintain a moist wound interface. For more information about this wound care option, click here.


  • Endoform Dermal Template
    Designed to deliver the strength of a dermal template with the simplicity of a collagen-based dressing, it is derived from an ovine (sheep) source and composed of 90% collagen and 10% intact, native extracellular matrix (ECM). The endoform dermal template demonstrates broad spectrum matrix metalloproteinases (MMP) reduction which may contribute to better wound healing. For more information about this wound care option, click here.


  • Restore Contact Layer Dressings and Contact Layer Dressings with Silver
    These dressings can be best used with low to moderate exuding wounds. Incorporating TRIACT technology and a non-adhesive, non-greasy surface, the dressings can be removed easily and virtually pain-free, which makes them suitable for wounds with fragile surrounding skin. An alternative featuring silver may be useful for reducing infection for wounds with low to moderate exudates as silver releases while the dressing absorbs the exudates. While early research indicates that continuous silver release may sustain antibacterial activity for up to seven days, patients should check with their doctor before using any product which contains silver sulfate. For more information about this wound care option, click here.


  • Restore Calcium Alginate Dressings and Restore Calcium Alginate Silver Dressings
    Offering a high absorbency and less residue than other calcium alginate dressings, these dressings may leave a cleaner surface area when removed than similar dressings available. Because of their advanced fiber makeup, they require less frequent changing, though patients should consult with their physician for guidelines. An optional version is available containing ionic silver complex which releases silver ions in the presence of wound fluid to fight odor and bacteria. For more information about this wound care option, click here.

The Latest in EB Research

For those facing epidermolysis bullosa, staying informed about the latest clinical research related to the disease can be helpful. A couple times a year, we like to offer a snaphot of clinical trials currently recruiting or in progress that could impact the EB community based on those logged on the U.S. National Institutes of Health (NIH) website.

At present, there are 14 open, international, EB clinical research trials listed as active, with one of the studies not yet recruiting and four of the other international studies listed with unknown recruiting status. Of the remaining nine EB research studies which are open and recruiting, six of them are actively being run within the United States and three are being led in other internationally-based locations.

This summary spotlights key background information as it relates to the six U.S. studies. For the most up-to-date, detailed information about all EB studies open and recruiting here in the U.S. and abroad, please go to the NIH’s Clinical Trials page at this link: 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.

  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. Led by Dr. Alfred T. Lane of Stanford University’s School of Medicine, this study launched in December 2010 and was last verified in March 2014. The study represents 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.
  • Stem Cell Transplant for Epidermolysis Bullosa. Last verified in December 2013, 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. During the trial, EB patients receive a combination of a chemotherapy treatment regimen, a bone marrow or umbilical cord blood stem cell transplant and a mesenchymal stem cell transplant. For more information about this study, click here to link to ClinicalTrials.gov.
  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. Dr. Lane at Stanford University is also conducting a screening of subjects with DEB to evaluate the characteristics of these patients, who may develop severely painful blistering and open wounds. Last verified in March 2014, 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.
  • Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Those with EB. Launching in March 2014 and last verified in April 2014, this study led by Scioderm, Inc. is the most recently launched, active EB trial. The purpose of this study is to assess the continued safety of topical use of SD-101 cream in subjects with epidermolysis bullosa. Patients age 6 months or older diagnosed with EB are still being recruited through the following locations:  Stanford University (Palo Alto, CA); Ann & Robert H. Lurie Children’s Hospital of Chicago (Chicago, IL); Washington University School of Medicine (St. Louis, MO); Hackensack University Medical Center (Hackensack, NJ); University of North Carolina School of Medicine (Chapel Hill, NC); Texas Dermatology and Laser Specialists (San Antonio, TX); and Seattle Children’s Hospital (Seattle, WA). For more information about this study, click here to link to ClinicalTrials.gov.
  • Characteristics of Adult Patients with Recessive Dystrophic Epidermolysis Bullosa. In May 2009, Stanford University launched another screening that was last verified in March 2014 and is still currently recruiting participants. This trial featuring RDEB patients screens diagnosed adults to study if there are additional characteristics that support survival into adulthood. For more information about this study, click here to link to ClinicalTrials.gov.
  • Efficacy of Granulocyte Colony Stimulating Factor in Patients with Dystrophic Epidermolysis Bullosa. This feasibility study from Vanderbilt University in Nashville, TN launched in February 2012 and continues to recruit for participants, and it was most recently verified in July 2013. The study attempts to measure the effectiveness of the Granulocyte Colony Stimulating Factor treatment in DEB patients over a 7-day trial period. Following this timeframe, the team follows up with participating patients at two intervals: 7 days after and 30 days after discontinuation of the drug. For more information about this study, click here to link to ClinicalTrials.gov.