Epidermolysis Bullosa (often called “EB”) is a family of genetic diseases characterized by the presence of extremely fragile skin – so fragile that the slightest touch can result in the development of recurrent, painful blisters and open sores. In some forms of the disease, disfiguring scars, disabling musculoskeletal deformities, and internal blistering are commonplace.
EB is a rare or “orphan” disease. This is defined differently in different countries – in Canada, these are diseases affecting less than 1 in 2,000 people (but more than 7,000 of them means that it affects approximately 3 million Canadians and more than 30 million in the European Union). In the United States, a rare disease is defined as occurring in less than 200,000 people, but in total, these conditions affect more than 25 million Americans.
EB occurs in every racial and ethnic group throughout the world and affects both genders. Palliative care, including topical treatments, bandaging with special bandages or vaseline gauze, and persistent wound management, is the current treatment for EB.
EB is not contagious, and intellectual function is not impaired. An estimated one in 17-20,000 live births are affected with some type of EB. The statistics indicate that, on average, only nine people out of 20 born with EB are living today, which illustrates the deadly reality of this disease! A person with severe EB experiences more pain in one week than the average person does in a lifetime!
THE GOOD NEWS
Scientists have located the genes and proteins that are defective in this disease. Their current research is to identify ways to repair the genetic mutations found in EB patients, without accidentally activating cancer-causing genes. They are also seeking ways to effectively treat the disease and its often lethal complications. At present, the only treatment available for EB patients is to protect vulnerable skin with soft, nonadherant dressings, and treat wounds and infections as they occur. Wound care supplies are often not covered by insurance or government programs; these may in excess of $5,000 U.S. per month to maintain a single patient.
Here are some factual resources, for anyone who wants to learn more about EB:
Research begets research. However, with a rare disease such as EB (which is much like a zebra in a very large herd of horses), there are special challenges faced by the patient community:
- Healthcare and social support services are more suited to patients with common diseases
- Lack of diagnosis can result in the absence of practical supports, and patients and families being denied necessary healthcare services and services usually provided in hospitals, schools and community
- Patients with rare disorders like EB require the coordination of multidisciplinary specialists
- Limited research into rare disorders provides limited hope
- Due to the small market size, there are limited drug discovery initiatives by pharmaceutical companies when therapeutic targets are known, so the patient community and advocacy organizations often have an opportunity to promote such initiatives
- Many patients lack the financial resources to buy useful supplements to minimize nutrient and vitamin deficiencies.
- Supportive organizations like DEBRA and EBMRF have geographically widespread membership, so it is very difficult to provide useful advice on locally relevant issues
- Patients often feel isolated and helpless because of the unique nature of their disorder
There are also additional challenges for care-givers:
- People with rare disorders require individualised care based on each patient’s needs
- Rare diseases are poorly characterised
- There is limited availability of useful diagnostic tests and treatment options, and these can be very costly and not covered by insurance or government subsidy
- Physicians have limited time to coordinate multidisciplinary care if there is not a team in place
And, there are serious challenges facing the dedicated researchers who are doing everything they can to find effective treatments and a cure for EB:
- There is limited funding for translational research in general and for rare disease research specifically
- Research precedent often does not exist for rare diseases and never exists for undiagnosed diseases
- Patient registries do not exist in all countries
- Research into rare diseases spans multiple areas of expertise, and therefore it is difficult to coordinate necessary collaborations
- There is a lack of rare disease biobank samples (tissues, blood, urine, etc.) and difficulty in ascertaining affected patients for study
- Studies often must preclude patients who have developed cancer, are over or under a certain age, or who live at a great distance from the location of the clinical trial
Therefore, YOUR help – however you can help – will certainly have a positive impact. Only as a collective group can the EB community foster necessary supports for affected patients and their families. If we work in harmony, we can have an empowered voice to address healthcare, educational, regulatory and social service institutions. Patients, parents, care-givers, clinicians and researchers need to work in unity to address all of these challenges.
Please help to create EB awareness, and contribute or help raise vital funds so that effective progress in EB research can be made.