Epidermolysis bullosa (EB) is a group of inherited connective tissue disorders that cause blistering of the skin and mucous membranes in response to mild mechanical trauma (Dystrophic EB Research Association [DEBRA], 2015). It is thought to affect approximately 20:1,000,000 live births. Although there are over 30 subtypes of the condition, EB is traditionally categorized into four primary types based on the level of skin cleavage: simplex (EBS), junctional (JEB), dystrophic (DEB), and Kindler’s syndrome (Fine et al., 2008, 2014). The severity ranges greatly from infant mortality to the presence of painful blisters and wounds on the hands and feet. Complications include but are not limited to sepsis, pseudosyndactyly, contractures, corneal abrasions, failure to thrive and malnourishment, gross and fine motor delays, erosion of dental enamel and caries, and squamous cell carcinoma, the presence of which is dependent on the subtype and disease severity (Boeira et al., 2013; DEBRA, 2015; Feijoo et al., 2011; Fine, Johnson, Weiner, & Suchindran, 2008; Murat-Sušić, Husar, Skerlev, Marinović, & Babić, 2011).
Caring for children with EB is physically and emotionally demanding. Many children affected by EB require painful and time-consuming wound care, a process most commonly carried out by the parents, which involves bathing in water treated with bleach or vinegar, lancing and draining of blisters, debridement, application of topical emollients and moisturizers, and wrapping with nonadhesive dressings (El Hachem et al., 2014). In addition, children with more severe disease often have a number of extracutaneous complications requiring pediatric subspecialty care to monitor and manage complications related to the disorder (El Hachem et al., 2014).
To date, only a limited number of publications have addressed the enormous impact EB has on patients’ and families’ overall quality of life. Although initial reports recognize that the disease and its management places a heavy emotional, physical, and financial burden on those affected (Angelis, Tordrup, & Kanavos, 2015; DEBRA, 2015; Dures, Morris, Gleeson, & Rumsey, 2011; Fine, Johnson, Weiner, & Suchindran, 2005; Siañez-González, Pezoa-Jares, & Salas-Alanis, 2009; Tabolli et al., 2010; van Scheppingen, Lettinga, Duipmans, Maathuis, & Jonkman, 2008), it has yet to be shown how families in this rare disease community cope with the wide variety of stressors caused by the disease. This report will provide an introduction to EB and a discussion of the impact of EB on patients and families and document the experience and insights of one healthcare provider whose daughter was born with a KRT5 mutation, resulting in a severe generalized form of EBS.
INTRODUCTION TO EB
Diagnosing EB by clinical presentation alone can be misleading as there is significant overlap in patient presentation among the four major types. Ideally, patients suspected to have EB should first undergo a skin biopsy using immunofluorescence antigen mapping and/or transmission electron microscopy on a newly induced blister. With a successful biopsy, the level of the skin cleavage and antigen staining profile can often be determined (Fine et al., 2014). Once complete, genetic testing is encouraged when financially feasible for the affected family. Although the results of the precise mutation(s) currently have little to no effect on clinical management, the findings can be useful for genetic counseling and family planning and for any future treatments that maybe gene specific (Fine et al., 2014).
Types of EB
EB is typically divided into four main categories—EBS, JEB, DEB, and Kindler’s syndrome—based on the level of the skin where blistering occurs (Fine et al., 2014). With each type of EB, mechanical trauma to the skin results in the development of bullae and/or erosions. Within each category, patients may present with mild-to-severe blistering, with or without extracutaneous disease.
EBS is the most common and often the mildest form of EB (Table 1). It is primarily inherited in an autosomal dominant pattern, with rare cases being autosomal recessive. For most with EBS, blistering occurs in the basal layer of the epidermis. Presentation varies greatly and can be limited to mild blistering on the hands and feet (localized subtype), or it may involve severe generalized blistering (generalized severe or generalized moderate subtypes) with significant extracutaneous involvement (Fine et al., 2014).
Inherited in an autosomal recessive form, JEB presents with a wide range of severity and is generally considered to be a significantly more severe type of EB (Table 2). Blistering in JEB occurs at the lamina lucida, resulting in deeper and more chronic wounds. For those presenting with the more common severe generalized form of JEB, infant mortality rates are high (Fine et al., 2014).
DEB is present in both autosomal dominant and recessive forms, with the recessive form being more severe (Table 3). Blistering in DEB occurs at the sublamina densa, resulting in chronic wounds for many of the more severely affected. Those with recessive DEB may experience numerous extracutaneous symptoms with a shortened life expectancy (Fine et al., 2014).
A rare form of EB inherited in an autosomal recessive form (Table 4). This form of EB presents at birth and is characterized by photosensitivity and blistering, which occurs in multiple layers of the skin (Fine et al., 2014).
WOUND CARE: AN ILLUSTRATION OF MEDICAL TRAUMA
Wound care is the mainstay for managing the cutaneous effects of EB. For children with severe disease, wound care is often a long, tedious, and painful process (Adni, Martin, & Mudge, 2012; El Hachem et al., 2014; Fine et al., 2014; Kirkorian, Weitz, Tlougan, & Morel, 2014; Lara-Corrales, Arbuckle, Zarinehbaf, & Pope, 2010). In most cases, the parents are charged with this daily task, which is time consuming, taking 1–3 hours a day, and emotionally and physically draining (Tabolli et al., 2010). A typical bath and bandage change involves soaking the child in water treated most commonly with diluted bleach or vinegar (to decrease the bacterial load) and often salt (to neutralize the pH). After the bath, blisters are drained with large bore needles, small scissors, or a scalpel and gauze. Draining of the blisters is a necessity as most will continue to rapidly grow in size if not completely drained. The “roof” of the blister should be kept intact to decrease the likelihood of infection. Dried blisters and wounds are then debrided where needed, and ointments and creams are applied (Table 5). Once this process is complete, most wounds will be wrapped in a nonadhesive, silicone-based dressing and roll gauze and retained with a tubular dressing (El Hachem et al., 2014; Tabolli et al., 2010). The learning curve for EB-specific wound care is steep. Although it typically takes several hours or multiple dressing changes for families to learn the basics, becoming an “expert” at learning how to provide safe and effective wound care for EB skin can take months, if not longer.
The ease of wound care is dependent on the severity of the wounds, temperament of the child and parents, and support the family receives. Anticipatory anxiety, anxiety of the caregivers, and pain tolerance and management are all issues to consider. Unfortunately, it has been our experience and observation that many families are left to fend for themselves, with little guidance from wound care nurses, pain management specialists, pediatric psychologists, or palliative care teams. The fact that parents are often the ones in charge of wound care is an important point. Not only must the child undergo a painful procedure on a daily or near-daily frequency, but also that pain is inflicted by the child’s primary attachment figures—the very people who are charged with loving and protecting the child. For many, professional help and guidance in how to make this process as smooth as possible would be greatly appreciated; unfortunately, the issue is often not adequately addressed, even in clinics specializing in EB care.
Finally, wound care supplies can be incredibly expensive, costing up to a few hundred dollars per dressing change; many families in the United States have difficulty accessing these supplies because of medical insurance and cost issues (Stevens, 2014). As a result, children are either going without supplies, or perhaps more commonly, families are experiencing financial hardships because of the enormous cost of these supplies that are not always considered medically necessary by insurance companies. There are charitable organizations to help some of those in need, including DEBRA of America (debra.org) who sponsors a wound care clearinghouse for families in need.
PERSONAL EXPERIENCE AND OBSERVATIONS
Our daughter was born in 2013 with missing skin and deep wounds on her hands, feet, and legs. Her presentation was severe, requiring multiple courses of intravenous antibiotics, transfusions of packed red blood cells, opioid analgesics, and total parental nutrition during her 24 days in the neonatal intensive care unit (NICU). On the second day of her life, we learned her clinical diagnosis, EB. We would later learn, via her biopsy and genetic testing, that she has severe generalized EBS because of a de novo KRT5 mutation. The acute trauma and shock of not delivering a healthy baby in itself is overwhelming for parents; however, because of the rare incidence of EB, minimal information was provided to us in the aftermath of her birth. We were researching and learning alongside our daughter’s medical team. We remain grateful to the NICU clinicians who reached out to EB experts for guidance and listened to what we, as parents, were learning and suggesting along the way. We also know that, despite the NICU team’s best efforts, mistakes were made because of the relative lack of knowledge and EB-related experience (i.e., not allowing us to hold her for several days, aggressive debridement of wounds, using total parental nutrition rather than oral feedings to avoid esophageal blisters, bathing her without balancing the pH of the water, recommending that we do not bathe her at home, etc.). It was in these first few weeks that we would begin to understand that we as parents would need to become as informed as possible to adequately care and advocate for our daughter.
Although each child with EB is different, our daughter’s story is relatively typical for young children with severe disease. She is now 2 years old, and although we do our best to maintain some semblance of normalcy, EB has affected nearly every aspect of our daily functioning. Her bath and bandage change, a 2-hour process, dictates our schedule (Figures 1–7). Work schedules, appointments, social outings, and travel must be scheduled with wound care in mind. Wound care is the only option we have to offer our daughter as there is currently no treatment or cure for EBS; thus, the nonadhesive wound care supplies are our lifeline. EB plays a role in what she wears, what and how she eats, how she is held, who can be adequately trained to help care for her, where we go, the temperature we keep her environment, and the toys she plays with—there is not a single aspect of her life that EB does not affect.
For those familiar with EB, the above may come as no surprise. It has been our experience, however, that even well-meaning providers who are familiar with EB often do not understand the depth and breadth of its effects on patients and families alike. Nor are the services currently available adequate to meet the enormous needs of many families where one or more are affected by the condition.
Inconsistencies in Care
The quality and quantity of care received by children with EB varies greatly (Ahmad & Bruckner, 2014). This may be because in part of the vastly different clinical courses EB can present, relative lack of EB experience of many providers, differences in clinical judgment, or availability of pediatric subspecialists. In addition, clinical guidelines are only recently available for wound care, dental care, and pain management as they relate to EB (El Hachem et al., 2014; Feijoo et al., 2011; Goldschneider et al., 2014). Given the limited research on EB in general, the strength of the data supporting the guidelines varies greatly. Regardless, it has been our experience that families across the United States are receiving varying degrees of information and different levels of care. With the availability of more data-driven clinical guidelines, along with improvements in communication between providers, EB care may be significantly improved.
Mental Health Considerations
It has been estimated that 80% of those living with EB experience psychiatric symptoms (Margari et al., 2010). Care of patients with EB may be greatly improved if screening/assessment and treatment for psychiatric symptoms were reliably integrated into the multidisciplinary approach of the current standard of EB care (Margari et al., 2010). Although little research exists on the topic, it is understandable that patients with EB may experience high rates of anticipatory anxiety, depression, behavioral problems, and other psychological sequelae at rates much higher than the general population. The physical needs of patients with EB, however, are complex, and medical appointments are often long and tedious. Add to that mental health concerns of their patients and families and it may seem overwhelming for providers, most of whom have not received adequate mental health training to begin with. The challenges of EB, however, are so immense that brushing over the mental health aspect is a detriment to patients and families. Most notable are the potential downstream effects of the frequent, painful, and time-consuming wound care often carried out by parents or primary caretakers; disturbances in physical appearance caused by severe disease, and the wide range of developmental challenges including gross and fine physical limitations experienced by some.
Although little data exist on the mental health of children living with EB, the anticipatory anxiety associated with ongoing and painful dressing changes is no doubt a common concern. The consequences of chronic, anticipatory anxiety as it relates to wound care are understudied, but may increase the pain experience, and have a negative impact on the child’s development, mental health, education, familial relationships, and perhaps, even brain function (Brown, El-Deredy, & Jones, 2014; Tsao et al., 2004; Williams et al., 2015). In fact, the Fear-Avoidance Model of Pain suggests that, when pain stimuli are perceived as threatening, it can lead to avoidance, increased disability, and depression, the consequence of which can result in a cycle of more pain, fear, and disability (Vlaeyen & Linton, 2012). In contrast, self-efficacy may prove to be a protective psychological factor, resulting in lower pain levels and higher functioning (Miles, Pincus, Carnes, Taylor, & Underwood, 2011). When providers do not recognize the presence or extent of anticipatory anxiety as it relates to the pain experience, along with the potentially traumatic impact on patient and families, parents may be left without the tools to help limit the potentially detrimental effects.
Our 2-year-old daughter experiences anticipatory anxiety during her daily wound care regimes. Recognizing the impact this may have on her development, we have implemented a number of strategies to decrease anxiety that include a designated space only for wound care, distraction with videos and music, allowing her to make age-appropriate choices, and taking breaks when needed. We also do our best to remain calm and not rush the process. Although our small interventions are helpful, they do not quell the anticipatory anxiety that she (and we) experiences during the more painful aspects of her dressing changes. Our hope, however, is that, by lessening the anxiety and associated pain, her experiences with wound care and EB in general will result in a sense of resiliency along with lower levels of pain.
Depressive disorders are more common among children living with chronic conditions compared with those who are healthy or experiencing acute medical issues (Esmaeeli et al., 2014). Most patients with depression will not seek care for the depression itself, making it even more important for providers to screen and treat any clinically relevant symptoms (Mathet, Martin-Guehl, Maurice-Tison, & Bouvard, 2003). If not addressed, depression may also have a negative impact on the child’s relationships, academic achievements, and overall health (Tosun et al., 2008).
The benefits and negative consequences of caregiving have been relatively well studied. Caring for a child with EB brings with it a unique set of circumstances. The most challenging part of this condition for most is the stress that relates to inflicting pain on one’s own child during frequent and prolonged wound care sessions as well as the unknown outcome of being associated with the infliction of pain (Tabolli et al., 2010). The rarity and fragility of the condition also forces parents to quickly become the expert on their child’s condition. To protect a child with severe EB from unintentional harm, parents must remain vigilant at home, at school, and in the medical setting. Encounters with healthcare professionals can be very stressful as most providers are not well versed in EB and even the most basic provision of medical care can prove harmful to the child with EB (i.e., medical tape, blood pressure cuffs, even the reward of a sticker at the end of a visit). Given the strong correlation between anxiety and depression, it is critical for providers to remain mindful of any clinical indication of mental health problems (Sunderland, Mewton, Slade, & Baillie, 2010). The above stressors can affect even the most resilient caregiver, with the potential to ultimately impact family dynamics and well-being.
We have been incredibly fortunate in our ability to secure home health services for my daughter’s wound care since her discharge from the NICU. Five days a week, we have a licensed vocational nurse or registered nurse to assist us with the 2-hour bath and dressing change. In addition, we have had nursing students volunteering their time to learn and assist with wound care. Without exception, it has taken at least 3 months to train the individual providers in the details of wound care as it relates to EB. There have been nurses along the way who were overwhelmed with what it is to care for a child with EB and chose not to continue and others who were not a good fit for my daughter. The time invested in training others to help care for our daughter has been invaluable. Having others who are competent in caring for our daughter has allowed my husband and me to continue with our careers and have the occasional respite from the process. Our situation, however, is not the norm in the United States. We are aware of a number of families in which insurance has denied home health services or those who have had poor experiences with the healthcare system and do not trust others to care for their child. Both of the above situations result in the family carrying the full burden of wound care.
Pain Management and Palliative Care
Pain, whether from wounds, wound care, or corneal abrasions, is a predominant issue when it comes to EB (Goldschneider et al., 2014). However, pain management and the long-term impact of pain medication on developmental outcome are often not addressed in a comprehensive manner with patients with EB or their parents. Furthermore, although the consequences of persistent intermittent or chronic pain are not fully understood, the impact on one’s immediate quality of life can certainly be affected. Addressing pain and referring to a comprehensive pediatric pain or palliative care clinic when and where appropriate is a critical component of treatment for patients with EB. Doing so may not only lessen the pain experience and improve quality of life but perhaps also decrease some of the psychological sequelae associated with EB (Goldschneider et al., 2014; Miles et al., 2011; Vlaeyen & Linton, 2012).
Our daughter was discharged from the NICU with an analgesic regimen of acetaminophen and morphine, which we used for several months. Eventually, we observed that her pain response was no different when she was not premedicated, so we opted to not premedicate for wound care. We were comfortable with this decision for several months, until it became clear that the blisters and associated debridement of her feet resulted in intense amounts of anxiety and pain. We began our search for a palliative care team who might be able to address our needs. Despite living in a large metropolitan area with multiple university hospitals and a highly ranked children’s hospital, we were unable to find a pain clinic or pediatric palliative care center in our area equipped to address our daughter’s needs. As a result, we traveled 400 miles to the Pediatric Pain Management Clinic at Stanford Children’s Health, where we learned that they have a comprehensive palliative care team. Although we ultimately received excellent care for our daughter, the process was time consuming, costly, and at times frustrating. We also recognize that many families may not have the time or resources to access such care, highlighting another great need within the EB community.
For those who have the resources to visit a comprehensive EB clinic, the clinicians are highly skilled at monitoring the complications related to EB such as managing chronic and infected wounds, gastrointestinal symptoms, and dental care and making recommendations when and where appropriate. Unfortunately, without an actual treatment for most types of EB, and because of the great amount of variation in the condition, many of the day-to-day decisions about wound care, among other aspects of coping with EB, are left for families to figure out on their own, resulting at times in profound isolation. Fortunately, the emergence of social media in recent years offers many families affected by EB a platform to connect with each other. Many families rely heavily on social media, where EB families from around the world gather to share advice and tips for the day-to-day issues that arise. EB-related issues addressed on social media can vary from information exchanges on wound care suggestions, sharing of wound care supplies, advice on managing pain and itching, dealing with challenges that arise in the school system or other public setting, and providing emotional support for those with EB along with support for parents caring for children with EB.
EB is a rare genetic condition with the potential to affect every aspect of a family. With the significant impacts EB can have on the quality of life of patients and families alike, coupled with limited treatment options, much of the disease management is done at home, self-directed by patients and parents. An informed and responsive healthcare team has the potential to improve the overall health and well-being of those affected by this devastating condition.
RECOMMENDATIONS FOR PROVIDERS
Because of the rarity of the condition, most children with EB will receive their care from providers with limited EB knowledge and minimal clinical experience. This is an understandable, although often a frustrating and stressful, experience for patients and caregivers alike. Below are some recommendations and resources that may help providers address the many needs of those with EB.
Resources for providers who are caring for children with EB are available to the nursing and medical communities. Easily accessible resources include DEBRA of America, comprehensive EB clinics, published guidelines, and social media.
- DEBRA: DEBRA of America (debra.org) funds an EB nurse, who is available to answer questions and provide advice and resources for healthcare providers caring for patients with EB. DEBRA of America also sponsors a biannual EB conference attended by patients and providers alike that serves to connect the EB community and update patients and providers on best practices on EB-related care and research. DEBRA International (debra-international.org) sponsors an EB-focused research symposium every 3 years.
- Comprehensive EB clinics: There are four comprehensive EB centers in the United States; these include clinics at Stanford University (Palo Alto, California), Phoenix Children’s Hospital, Children’s Hospital Colorado (Denver, Colorado), and Cincinnati Children’s Hospital. Each EB center has a range of specialists with EB experience who are often available to provide consults.
- Clinical guidelines: Published clinical guidelines for wound care, pain management, and dental care of patients with EB are available for reference (El Hachem et al., 2014; Feijoo et al., 2011; Goldschneider et al., 2014). Because of the limited amount of research, the strength of data used to support the guidelines varies greatly, although it is a place to start.
- Social media: Social media groups for EB are invaluable to patients and caregivers, although they may be easily discounted by healthcare providers (Tozzi et al., 2013). They do, however, offer an opportunity to better understand how patients are managing their symptoms at home, what their struggles are, and how clinics may better serve them. These groups may also be an efficient place to recruit hard to find research subjects (Johnson, Mueller, Williams, & Gutmann, 2014; Schumacher et al., 2014). The most active and easily accessible public social media group, Epidermolysis Bullosa Lounge, can be found on Facebook. Providers with an interest in EB are welcome to join, ask questions, and learn from patients and families who are living with EB. Although evidence-based articles and practices are shared occasionally, the site is mostly used for families to exchange information and ask questions about any number of issues related to EB.
For many families affected by EB, there is a sense of “reinventing the wheel” each and every day. With no one to guide them, they are figuring out best practices for their child’s wound care, meeting new hurdles as the child grows and matures, and encountering roadblocks when attempting to access healthcare and other services. Having healthcare providers, including nurses, social workers, and home healthcare providers, who understand some of the nuances of life with EB and are thus able to provide anticipatory guidance for some of the larger life issues, may help relieve some of the burden and stressors from families who are likely to already be overwhelmed.
Working With Parents and Patients
Like many genetic conditions, EB may have a single definition but a wide variety of clinical presentations. Children in the same family with the same mutations may present very differently. Parents of children with EB are truly the experts when it comes to their child, often having to think outside the box and go through a lot of trial and error to discover what works best for their child and their family. It is critical for providers to acknowledge, validate, and respect the expertise that parents have to offer when developing a working collaborative relationship and best practices for each child with EB.
Consider Mental Health and Pain Management
Addressing the mental health needs of your patients may have a positive impact on their health status; at the very least, it has the potential to greatly improve the quality of life of both patients and families. Families, however, often do not have the time or energy to go to yet another appointment, nor are they motivated to address another challenge; thus, providing home-based mental healthcare to patients and their families when possible, or making the referral process as seamless as possible, may be incredibly helpful for both the medical team and families. It is also highly recommended that mental health providers have some knowledge about genetic disorders in general and the challenges specific to those with EB.
Addressing Caregiver Stress
Because of the complex nature of appointments when a child has EB, it can be easy to forget to screen parents or caregivers regarding their needs as caregivers. Although there can be many positive aspects of caregiving, parents of children with rare and chronic diseases are often exhausted, desperate for information, and in need of emotional and peer support (Kerr, Harrison, Medves, Tranmer, & Fitch, 2007; Pelentsov, Laws, & Esterman, 2015). This stress can lead to parental depression and prevent a family from thriving, if left unaddressed (Torres et al., 2015). Although pediatric clinicians are not responsible for parental health and well-being, they should be vigilant about the impact that EB can have on families and prepared to provide referrals when indicated to ensure continuity of care and the best possible outcome for the patient.
Many children and families affected by EB are incredibly resilient, caring for their condition at home requiring no additional medical or psychosocial interventions. However, the complexities of EB care, including the associated pain and potential for psychosocial distress, warrant further attention from clinicians and researchers alike. Clinicians may improve care promptly by being aware of some of the hidden challenges, screening patients for psychosocial distress, and referring for treatment when and where appropriate. In addition, researchers may consider a more detailed look at the incidence and prevalence of psychosocial sequelae of patients and caregivers affected by EB, with the ultimate hope of developing best practices for how to manage anxiety, depression, caregiver stress, and other related psychosocial consequences related to EB.
I would like to thank my daughter Clara, the inspiration for this article, for teaching me the meaning of strength and the importance of living in the moment; my husband Francisco Bodán, MSW, for his feedback on the article and going on this journey with me; my daughter’s home health nurses who care for us like we are family; Kelly Decker, PhD, for her astute edits; and fellow EB parents Jamie Silver, Carlos Yidinoy (JD), and Heather Fullmer (RN) for their contributions.
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