Epidermolysis Bullosa: Diagnosis, Treatment, and Steps to Take Accessed June 9, 2022. Epidermolysis bullosa can worsen even with treatment, so it's important to spot signs of complications early. 2020 Nov;37(6):1198-1201. doi: 10.1111/pde.14340. The newest FDA-approved gene therapy treats the severe, skin-peeling condition dystrophic epidermolysis bullosa (DEB). 8600 Rockville Pike In this study, eleven children with various types of EB were interviewed using a semistructured guide. JW, NP, AR, HL, ML, and JGa, are employees of and hold stock in Amicus Therapeutics. Kliegman RM, et al. The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. Would you like email updates of new search results? Brun et al16 found that pain can be significant enough during blister flare ups for those with EBS to cause individuals to miss education or work. In comparison, the adult cohort felt that they could successfully manage EB. Journal of the American Academy of Dermatology. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. The major risk factor for developing epidermolysis bullosa is having a family history of the disorder. 2022;14(4):433-443. doi: 10.1080/19466315.2022.2090429. In total, eight mothers and two fathers of children with EB participated, with children ranging in age from three to seventeen. However, on occasion this was not possible, resulting in unproductive interactions with nonspecialist HCPs. Pope E, LaraCorrales I, Mellerio J, et al. I am so proud of YOU!!! The first and second authors conducted the initial coding and generated preliminary themes, while the third author sense checked the themes to ensure a coherent narrative. Or maybe youre looking for members who are from the same country as you. (2016) . An official website of the United States government. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach. The data were analysed thematically. This contrasted with accessibility issues with the main hospital setting which required walking a long distance from a car park to a clinic which was not very helpful for people with sore feet (Adult Participant 2). Some are very active in the conversation, and others take a more hands-off approach, intervening only when there might be a problem. Mayo Clinic. An adult participant reported that when he was younger, his family applied for a medical card for him, but he was rejected resulting in his family having a hefty bill every week (Adult Participant 4). Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Participants routinely encountered HCPs who had little or no knowledge of EB. Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Despite this, adults described one of the situations, predominantly with serious infections where they felt they had limited options in terms of immediate support. The aim of this article was to identify the specific healthcare needs within the EB population with a view towards developing appropriate and accessible health services for EB patients and their families. The site is secure. Pediatr Dermatol. Participants had very little support accessing benefits and entitlements with some outlining stressful administrative processes. For those with more severe subtypes, pain is a central part of the condition and individuals require daily skin care routines and bandaging on most parts of the body.2, 3 Treatments focus on prevention of blisters, use of appropriate bandages and ointments and support for physical and mental wellbeing,4 requiring the services of a wide range of disciplines, such as dermatology, nursing, dietetics, occupational therapy and physiotherapy. 2010;67:904. After this first contact, individuals were given time to decide if they still wished to participate. This was sometimes accompanied by questions which indicated that HCPs felt that individuals were being overly protective about either their own skin or their child's skin. We think thats one of the ways our forty-some community network is special. The .gov means its official. The therapeutic potential of neurofibromin signaling pathways and binding partners. doi: 10.1016/j.jaad.2014.01.903. Football legend Graeme Souness plans to swim the English Channel to help people living with a rare skin condition. Federal government websites often end in .gov or .mil. One participant also noted that her child spent substantial amounts of time attending hospital appointments but felt that this setting may not be an appropriate place to discuss the emotional aspects of EB. Epidermolysis bullosa: Effects, types, and symptoms - Medical News Today Another study examined the concerns of parents of children with EB in the Netherlands. It is important to note however that participants recognized that some community HCPs had purposively developed their knowledge and skills in relation to EB. All rights reserved. Krmer S, Lucas J, Gamboa F, Pearrocha Diago M, Pearrocha Oltra D, Guzmn-Letelier M, Paul S, Molina G, Seplveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrilln F, Paredes C, Serrano MC, Clark V. Spec Care Dentist. eCollection 2023 Jun. This included adults with EB (46 Packs) and the parents of children with EB (48 Packs). This geographical isolation from specialized services left some feeling that home visits by an EB professional would substantially benefit care: It wouldve been in the early stages, even just for one or two visits and just from an education point of view. This study also offers those affected by EB a platform to articulate their healthcare needs. DFM has served as an investigator for Amicus Therapeutics, Amryt, Castle Creek, and Shire, and has served as an advisor for Amicus and Shire. However, several participants highlighted one of the occasions where they would have appreciated support during serious infections or nonEBrelated hospital admissions. Any trauma or friction to the skin can cause painful blisters. Maybe you came across an interesting post and you want to learn more about the member. Thematic analysis was selected as an approach to minimize this risk. 2nd ed. Graeme Souness: Football legend to swim Channel for 'butterfly skin Mellerio JE, Kiritsi D, Marinkovich MP, Haro NR, Badger K, Arora M, Dziasko MA, Vithlani M, Martinez AE. About 30 million people in the U.S. are affected by a rare disease. University College Dublin, Before You must be wondering what Seenie has been doing these days. When they put those little things on to do ECGs, they tend to want to pull them off and I have to explain dont pull them off because [] it actually does take the skin off with them (Adult Participant 3). Federal government websites often end in .gov or .mil. PMCID: PMC6942340 DOI: 10.1186/s13023-019-1279-y Abstract Background: Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes. Thanks to Ben, Shalon and all the others who manage this site. 2022 Jul 15;17(1):270. doi: 10.1186/s13023-022-02433-3. van Scheppingen C, Lettinga AT, Duipmans JC, Maathuis CG, Jonkman MF. Parents also highlighted difficulties interacting with administrative staff who sometimes displayed little concern for individual care needs and instead focused on the expense associated with specialist medical supplies and did not understand: How important these dressings were, that its the childs second skin and that you cannot recycle them (Parent Participant 2). Your information is never shared, and your activity never tracked by adware. Shah MK, et al., eds. Lupus is a chronic condition that can affect various parts of the body, including joints, skin, kidneys, heart, and more. This often resulted in feelings of isolation within the home with many having little free time for normal family life. In: Ferri's Clinical Advisor 2022. Despite this care, some parents were reluctant to leave their child with family members due to the guilt family members felt if a child got hurt. Stat Biopharm Res. Transgenic epidermal cultures for junctional epidermolysis bullosa 5-year outcomes. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor. After Your Visit to the Epidermolysis Bullosa Center. Not surprising: each of our mods does their job in their own way! The needs of individuals with EB were grouped into five themes identified by researchers: (a) support managing physical healthcare issues; (b) access to community/homebased services; (c) EBspecific information and psychosocial support; (d) effective interaction with healthcare professionals; and (e) advice regarding benefits and entitlements. So JY, Fulchand S, Wong CY, Li S, Nazaroff J, Gorell ES, de Souza MP, Murrell DF, Teng JM, Chiou AS, Tang JY. Inherited epidermolysis bullosa. 8600 Rockville Pike -. It's the most common and least severe type. Can you not wear different shoes? Epidermolysis bullosa - Symptoms and causes - Mayo Clinic 2017;69:288297. This was frightening especially within hospital settings where requests were sometimes not treated seriously. As the current research involved designing a service where parents of children with EB would be the main contact with service providers regarding their child's care, it was felt that the parental perspective sufficiently answered the overall research question. Six adults with EB also participated in the study (three males and three females) and were aged between twentytwo and sixtyseven. Your website then was my biggest support. -. Pain care for patients with epidermolysis bullosa: best care practice guidelines. 2014;12:178 10.1186/s12916-014-0178-2. Ten Bens Friends members traveled for more than 500 miles on foot and afloat to raise awareness and to raise money to start new Bens Friends Communities. Some participants highlighted a desire for contact with other people with EB to lessen feelings of isolation and the lack of understanding associated with the condition. PMC Pelentsov L, Fielder A, Laws T, Esterman A. Health Expect. Participants also felt that their personal knowledge and expertise was ignored during healthcare interactions. Br J Dermatol. Disclaimer. Please enable it to take advantage of the complete set of features! Orphanet J Rare Dis. The goals of treatment are to prevent and control symptoms by: Managing pain and itch. IRIS Centre, Intensity of wound pain and itch (scored from 1 to 10) in the past 2weeks as reported by, Life decisions resulting from epidermolysis bullosa from the. Interview transcripts were openly coded using an inductive approach, guided by the overall research question. EB is often identified at the time of birth and subsequently diagnosed and treated according to genotypic and phenotypic presentation. A consensus approach to wound care in epidermolysis bullosa. Parents outlined intense bureaucratic battles to ensure they were supported by homebased personal assistants and/or nurses. Each community reflects the [], Ben Munoz August 15, 2019 Careers. A qualitative interview study by Dures et al11 examined the psychosocial impact of EB on 24 adults (14 women and 10 men) with EBS, DEB and JEB. The authors also found that EB had a disabling impact on adults physically and socially, with the visual difference of EB adversely impacting normal social interactions. 2014;70:11031126. Epidermolysis bullosa. Hence, a quantitative study would have had limited validity and would have lacked the richness of data generated by a qualitative approach. Fine JD, Johnson LB, Weiner M, Suchindran C. Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size, The psychosocial impact of epidermolysis bullosa, Participatory action research approaches and methods: Connecting people, participation and place, Identifying the Optimum Role and Function of an Epidermolysis Bullosa (EB) Outreach Nurse. Elsevier; 2022. https://www.clinicalkey.com. (November 2020) Epidermolysis bullosa ( EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Ireland. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press. Because we are all about support, and were all in this together.. Bens Friends:Safe and Supportive. Survey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. One solution to this could be the development of a coordinator role that bridges the gap between community and specialist services similar to a role that exists in EB services in the Netherlands.17 This role, which is advocated more widely internationally for patients with other rare conditions, includes coordinating and communicating care needs to relevant care providers and acting as a point of contact.18, Participants expressed a preference for homebased services and spoke of the challenges associated with accessing communitybased care, with most wishing to limit visits to hospitalbased settings. In: Dermatology Essentials. Epidermolysis bullosa is a group of inherited conditions of the connective tissues that cause blisters in response to heat, friction, or minor injury. Keywords: Potential themes were reviewed against the coded data and the dataset overall to make sure they reflected the transcripts. Epidermolysis Bullosa Basics: Diagnosis, Treatment, and Steps to Take Dinulos JGH. It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis. McKenna caught her first West Slope Cutthroat Trout Participants were generally satisfied with these interactions and were kept updated in relation to new developments in EB treatments. Gowran et al6 highlighted the difficulties experienced by those without medical cards, arguing that free access should be offered to all with EB, regardless of means. For example, the EB population in Ireland is relatively small. The patient representative organization DEBRA also offers advocacy and community outreach services for individuals with EB. As a library, NLM provides access to scientific literature. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. Bez-Flores J, Rodrguez-Martn M, Lacal J. Commun Biol. The main types of epidermolysis bullosa are: Epidermolysis bullosa acquisita is distinct from these conditions, as it isn't inherited and it's rare in children. This also extended to help and advice with wounds. For many adults and parents of children with EB simplex, EB was described as a condition that needed monitoring and active management. Dystrophic Epidermolysis Bullosa (DEB) is a serious rare genetic disease that affects the skin and mucosal tissues and is caused by one or more mutations in the COL7A1 gene, resulting in lack of . 10.1111/hex.13006 JAAD Int. Patient- and caregiver-reported complications experienced due to epidermolysis bullosa. Nicholl H, Tracey C, Begley T, King C, Lynch AM. Parents talked about the informal support they received from friends and family. Orphanet J Rare Dis. These individuals made substantial efforts to understand the family's support needs, and when these HCPs were absent, parents were reluctant to engage with someone else. Daae E, Feragen KB, Sitek JC, von der Lippe C. Health Psychol Behav Med. J Am Acad Dermatol. Tang JY, Marinkovich MP, Lucas E, Gorell E, Chiou A, Lu Y, Gillon J, Patel D, Rudin D. Orphanet J Rare Dis. and transmitted securely. Like many other patients, do you also think that doctors know everything so you should believe and simply follow everything they say? Their health is rarely affected because they have only one changed gene. Difficulties associated with accessing allied HCPs within communitybased services in Ireland are a systemwide issue, with further resources required to fully meet the needs of all patients within their own communities.19, The need for home nursing assistance was expressed where parents were involved in wound care, with previous research providing support for this resource. Received 2019 May 27; Revised 2019 Nov 12; Accepted 2019 Nov 12. Participants in general were satisfied with the care they received from specialist services. Parents of those with clinically more severe forms of EB struggled significantly with the pain their child experienced during bandage changes and appreciated the support they received. HHS Vulnerability Disclosure, Help Participants articulated care needs in five areas relating to support with physical care; access to community services; EBspecific information and psychosocial support; appropriate interactions with professionals; and advice regarding benefits and entitlements. sharing sensitive information, make sure youre on a federal Its every single aspect of every single minute of every hour, of every day, and unless you are living it [], you just would not have a clue (Parent Participant 2). When we recently asked our moderators what they love about their role, we got a variety of reactions. As the aim of the study was to allow the views of those living with EB to inform the design of a new EB service, it was important to ensure that any predetermined ideas about such a service would not influence the findings. In an autosomal dominant disorder, the changed gene is a dominant gene on one of the nonsex chromosomes, also known as autosomes. Pope E, et al. Keywords: 51040). He says that it was a very scary time. 2010;5:12. doi: 10.1186/1750-1172-5-12. Click here to create an account and join. Either you want to start a new topic to talk about them in detail or you want to reply to a comment on a thread. All participants were resident on the island of Ireland and are therefore reflecting on services in this geographic region. (Parent Participant 2). The interview guide was adapted from previous work on service needs for those with chronic conditions.14 The interview guide was adapted from a previous study which focused on exploring continuity of care for children with complex chronic health conditions. -, Tabor A, Pergolizzi JV, Jr, Marti G, Harmon J, Cohen B, Lequang JA. Bens Friends continues to expand this gift of love and support by creating more communities for folks sharing different great health challenges. Bayesian Design of Superiority Trials: Methods and Applications. Participants in both cohorts felt it was impossible for other people to understand EB unless they had it or lived with it. See this image and copyright information in PMC. Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America. I wouldve loved someone there to tell me about the different dressings (Parent Participant 6). Navigating unexpected challenges, coordinating care, and handling financial concerns may feel overwhelming. Caregivers; Disease burden; Epidermolysis bullosa; Financial burden; Management; Patients; Quality of life; Survey; Wound care. McGraw Hill; 2016. https://accessmedicine.mhmedical.com. Previous research in this area has found that parents experience significant caregiver stress9 and this can have a negative impact on family functioning and the marital relationship.10 A recent survey conducted in Australia and New Zealand found that 46% of parents of children with rare conditions also reported feeling isolated and lonely.23 In order to alleviate the negative impact on family functioning and to support the informational needs highlighted, families should have timely access to patient advocacy groups, genetic counselling or social work services. Chan JM, Weisman A, King A, Maksomski S, Shotwell C, Bailie C, Weaver H, Bodan R, Guerrero E, Zmazek M, Khuu P. Orphanet J Rare Dis. Some people dont develop signs and symptoms until adolescence or early adulthood. Mapping the burden of severe forms of epidermolysis bullosa - Implications for patient management. Rare diseases are not rare. Kueckelhaus M, et al. Living with Epidermolysis Bullosa How a child with "butterfly disease" learns to fly. Living with epidermolysis bullosa: Daily challenges and health-care Living with epidermolysis bullosa: Daily challenges and healthcare Bookshelf Both cohorts discussed infections which they felt unable to deal with and feared the consequences of falling seriously ill. Among the types/subtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering > 30% of total body area. These types of responses often left participants upset and sometimes isolated within personal and wider family relationships and requiring emotional and social support. El Hachem M, Zambruno G, BourdonLanoy E, et al. Participants reported that they felt different, were treated negatively by peers and found it difficult to manage others not understanding EB.8 The findings from these studies highlight the importance of social and psychological support for EB. Codes with a similar content that were prevalent throughout the transcripts were combined into preliminary themes, particularly those relating to care needs. Chan School of Public Health analyzed the effect of a healthy lifestyle The post What Changes Can You Make to Your Diet? Severe disease may be fatal. Epidermolysis bullosa - NHS This content does not have an English version. These themes were then reviewed and combined resulting in the generation of five overall themes. We wont even allow you to use your real name when you register for one of our communities. The positive contribution of HCPs in community settings who initially had no knowledge of EB was also discussed. RT @LMA_Managers: Graeme Souness is swimming the English Channel for @CharityDEBRA to help reduce the pain for people living with epidermolysis bullosa. Inclusion in an NLM database does not imply endorsement of, or agreement with, Bethesda, MD 20894, Web Policies Posts on the different Bens Friends communities can be read by anyone on the internet. Make your tax-deductible gift and be a part of the cutting-edge research and care that's changing medicine. 1 This feeling of frustration was compounded by that fact that both cohorts felt that they had to explain EB to every HCP they encountered. Ben created this wonderful site. The specific aim of the paper is to identify the needs of the EB population with a view towards informing the development of a community liaison service to support adults living with EB and the parents/carers of children living with EB. The https:// ensures that you are connecting to the Orphanet J Rare Dis. A consensus approach to wound care in epidermolysis bullosa. 10.1586/erp.10.28. You get one from each parent. The data were analysed thematically. J Am Acad Dermatol. Financial burden of epidermolysis bullosa on patients in the United States. Treatment focuses on caring for blisters and preventing new ones. Most felt that they had limited options available to them with some reporting that they attended A&E during bad outbreaks. When you join a patient community, you realize that you're not alone in this. The area where the layers meet is called the basement membrane. Disclaimer. van Scheppingen et al9 also reported parents of children with EB struggled with healthcare environments where there was limited knowledge of EB. The site is secure. J Clin Aesthet Dermatol. The .gov means its official. J Clin Med. Clipboard, Search History, and several other advanced features are temporarily unavailable. May you be ever so BLESSED!!! Parents also talked about HCPs who contributed to their child's care in ways that circumvented bureaucratic challenges, for example public health nurses taking extra care to ensure that essential supplies of bandages did not run out and specific pharmacists who were always very good in supporting families with acquiring bandaging (Parent Participant 4). Sending private messages. Results: A qualitative examination of the problems faced by children with EB in the Netherlands found that difficulties dealing with itchy skin, being in pain and others not understanding EB were particularly challenging. appeared first on News From Ben's Friends. These experiences left participants hesitant to access services in the future due to the fear of being hurt within a hospital setting. sharing sensitive information, make sure youre on a federal Taylor & Francis Group; 2021. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. Id like to see it outside in a much more gentle space, a good space (Parent Participant 2). Vesiculobullous disorders. Vesiculobullous disorders. This could be achieved through referral to the patient organization DEBRA Ireland who have a dedicated family support service. Finally, it is proposed that the findings in this paper could provide health professionals with an insight into the lives of people with EB, so that effective services can be provided to meet the needs of this population in the home, in the community and in the hospital setting. [PMC free article] [PubMed] [CrossRef] [Google Scholar], National Library of Medicine Expert Rev Pharmacoeco Outcomes Res. Are you affected by Epidermolysis Bullosa (EB) Disease? Epidermolysis bullosa (EB) is a rare genetic skin-fragility condition characterized by chronic blistering responses to minor skin trauma due to impairments at the dermoepidermal junction. An analysis of EB healthcare support conducted in Ireland suggested access to specialist EB support staff in the hospital, and the community was important.6 This study also emphasized challenges in relation to accessing services, as well as the emotional and social cost to caregivers.6. We met back in 2006, in Austin at St.Davids. Participants' needs were grouped into five themes: support managing physical health-care issues; access to community/home-based services; EB-specific information and psychosocial support; effective interaction with health-care professionals; and advice regarding benefits and entitlements. There are more than 30 subtypes identified, and these are generally categorized into four groups: EB simplex (EBS); dystrophic EB (DEB); junctional EB (JEB); and Kindler syndrome.1 EBS is considered the mildest form of EB, with blistering focused mainly in the feet and hands. Previous research in this area has tended to focus on the difficulties associated with the condition.7, 8 However, individuals with EB have rarely been asked about their care needs. Participants felt this process was frustrating particularly for a chronic condition and felt that they should not have to fight for this: Well just pay for it and forget it but then it means that the next kid that comes up behind you [] still has to fight the fight (Parent Participant 4). Specialist homebased nursing services for children with acute and chronic illnesses. The hospital is my sanctuary, its where I receive my knowledge (Parent Participant 2). Skip to content Care at Mayo Clinic The gene treatment has been a long time coming, but it differs from the handful of other approved gene therapies: it isn't a one-and-done. For those living with EB, pain represents a constant challenge, with blistering and tasks such as changing dressings, adding to the distress. One parent accessed occupational therapy and other holistic support privately due to lack of public services. This site needs JavaScript to work properly. In addition, as families and individuals with EB are time poor and geographically dispersed, it would also have been logistically difficult to run focus groups. What to Expect | Epidermolysis Bullosa Center A survey study from the United States found high levels of marital breakdown in families with children with EB.10 In addition, the authors also found that a significant number of those with children with more clinically severe types of EB chose not to have more children. 2017;10:3648. Epidermolysis bullosa - Wikipedia The https:// ensures that you are connecting to the Viewing other members profiles. Epidermolysis bullosa (EB) is the term used for a group of genetic skin fragility disorders. Krystal Biotech Receives FDA Approval for the First-Ever - Nasdaq However, one issue that both cohorts shared was the difficulty in attempting to access free medical care through the means tested medical card. Demographic information was also collected. Vesicular and bullous diseases. When it was first discovered no one within 500 miles knew what it even was, let alone how to treat it. Accessed June 6, 2022. A study of parents experiences of having a child with EB had similar findings with many experiencing difficulties related to the pain their child experienced.9 This research also documented restrictions on leisure time and employment, which was evident within the current study.