2014;70:11031126. 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. Living with epidermolysis bullosa. Most types of epidermolysis bullosa are inherited. 2015 Feb;8(1):51-63. doi: 10.1007/s40271-014-0097-5. Parents discussed in detail how EB had consumed their life and discussed the daily struggle they faced. -, Ma JE, Hand JL. A consensus approach to wound care in epidermolysis bullosa. Id like to see it outside in a much more gentle space, a good space (Parent 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. A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. Participants discussed the guilt experienced when realizing they had passed EB onto their child. 2nd ed. At Bens Friends, one of the things we always encourage our members to do is to advocate for their own health. Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. All participants were resident on the island of Ireland and are therefore reflecting on services in this geographic region. van Scheppingen C, Lettinga AT, Duipmans JC, Maathuis KG, Jonkman MF. IRIS Centre, Treating and preventing infection. Epidermolysis Bullosa: Diagnosis, Treatment, and Steps to Take 10.1016/j.jaad.2014.01.903. McGraw Hill; 2016. https://accessmedicine.mhmedical.com. The therapeutic potential of neurofibromin signaling pathways and binding partners. Vesicular and bullous diseases. Having a user account allows you to see other member profiles and find information that may be relevant. Patient- and caregiver-reported complications experienced due to epidermolysis bullosa. This content does not have an Arabic version. Sascha Gallardo November 1, 2022 I wouldve loved someone there to tell me about the different dressings (Parent Participant 6). Further concerns were raised as to the legitimacy of such an approach given that it was anticipated that the service would be accessed primarily by parents and adults. The https:// ensures that you are connecting to the Most adults carefully monitored their condition to avoid these instances; however, when they did occur, they resulted in extreme pain, missed work or college and would sometimes necessitate contacting unspecialized care providers, which most adults sought to avoid due to the difficulty explaining the seriousness of what would appear to treating healthcare professionals (HCP), as a minor skin infection: So even if you went into A&E, they do not know what to do with you. The patient advocacy group, DEBRA Ireland, spearheaded the lobbying process at a national level while the research steering committee was instrumental in designing this study so that it was both appropriate and relevant for people with EB. It is a gift that keeps on giving. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press. Bookshelf 1998-2023 Mayo Foundation for Medical Education and Research (MFMER). HHS Vulnerability Disclosure, Help Participants in both cohorts articulated the difficulties they experienced in relation to physical care needs particularly when managing infected wounds. When you join a patient community, you realize that you're not alone in this. Epidermolysis bullosa (EB) is the term used for a group of genetic skin fragility disorders. Dense living communities of hundreds of bacterial species form biofilms on our . 8600 Rockville Pike 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. -, Fine JD. 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. Financial burden of epidermolysis bullosa on patients in the United States. Consequently, participants reported that they learned to only contact EBspecific services. One of such diseases The post Sarcoidosis Awareness: Shedding Light on a Rare but Significant Disease appeared first on News From Ben's Friends. 2017;69:288297. The https:// ensures that you are connecting to the It is important to note however that participants recognized that some community HCPs had purposively developed their knowledge and skills in relation to EB. Orphanet J Rare Dis. However, on occasion this was not possible, resulting in unproductive interactions with nonspecialist HCPs. Previous research has identified similar issues, with Dures et al11 finding that adults often felt disempowered by HCPs when their own knowledge of EB was disregarded. The authors declare that they have no conflicts of interest. 2022 Apr 5;10(1):335-356. doi: 10.1080/21642850.2022.2053685. Krystal Biotech Receives FDA Approval for the First-Ever - Nasdaq Kindle edition. One participant highlighted how a public health nurse came to understand the challenges associated with EB and visited every week during bandaging to give advice and to learn more about the condition. Suggested support needs ranged from a preference for skillbased interventions and peer support to psychological support. This content does not have an English version. For infants, severe blistering can be life-threatening. Sominidi Damodaran S (expert opinion). However, this support was often timelimited with parents discussing their daily struggle. Did you know that there are diseases that can affect almost any part of the body? These needs related to (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. 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. 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). Epidermolysis bullosa - NHS The newest FDA-approved gene therapy treats the severe, skin-peeling condition dystrophic epidermolysis bullosa (DEB). J Am Acad Dermatol. Parents described timeconsuming dressing changes multiple times every week with caring responsibilities falling predominantly to the mother. Received 2019 May 27; Revised 2019 Nov 12; Accepted 2019 Nov 12. Our common denominators are that we share a life journey, and we try to help each other. However, one issue that both cohorts shared was the difficulty in attempting to access free medical care through the means tested medical card. Potential themes were reviewed against the coded data and the dataset overall to make sure they reflected the transcripts. This article represents the health-care needs and preferences of a broad spectrum of those with EB, highlighting the need for a comprehensive service regardless of the severity of the condition. For many adults and parents of children with EB simplex, EB was described as a condition that needed monitoring and active management. Careers, Unable to load your collection due to an error. Both cohorts discussed infections which they felt unable to deal with and feared the consequences of falling seriously ill. Vesiculobullous disorders. Indeed, a recent study highlighted that online support can facilitate a greater understanding of rare conditions among parents of children with rare conditions.22. -, Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. The post A Guide to Navigating Interactions with Lupus Patients appeared first on News From Ben's Friends. Navigating unexpected challenges, coordinating care, and handling financial concerns may feel overwhelming. After her gamma knife operation, we had to wait the two long years. Internet Use by Parents of Children with Rare Conditions: Findings From a Study on Parents Web Information Needs. These themes were then reviewed and combined resulting in the generation of five overall themes. One participant spoke of the suffering their child experienced during bandage changes, and on the occasions when supported by a nurse, it was sometimes possible to leave the room when this suffering became too much to bear. A sixstep thematic analysis approach was used to identify and analyse patterns in the data and to construct a rich narrative account.15 Thematic analysis is used when little is known about the subject. and transmitted securely. 7 Things to Look for When Choosing a Doctor, Rare Diseases Doesnt Have Us Foot and Float to Raise Awareness, Spotlight on Our Board Member: John Stamler, Bens Friends Brings Learning About Patient Support to the Next Level, Hanging Out is Helping Out: The Cycle of Helping Each Other at Bens Friends, Bens Friends Communities Can Help Advance Medical Treatments, The Emotional Impact of Living with Psoriatic Arthritis, A Guide to Navigating Interactions with Lupus Patients, Sarcoidosis Awareness: Shedding Light on a Rare but Significant Disease, What You Need to Know About Sjgrens Syndrome, Fragile skin that blisters easily, especially on the hands and feet, Thickened skin on the palms and soles of the feet, Scalp blistering, scarring and hair loss (scarring alopecia), Dental problems, such as tooth decay from poorly formed enamel. -, Pagliarello C, Tabolli S. Factors affecting quality of life in epidermolysis bullosa. 21st ed. 7th ed. This content does not have an English version. However, it would be imperative that future research examine the psychosocial needs of children with EB, especially before implementing and designing services that children themselves would directly access. Were interested in you as a person, and in your struggles as a rare disease patient. Respondents ticked all applicable answers. Large, open sores are common and can lead to infections and loss of body fluids. 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. Stat Biopharm Res. Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America. To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. The supportive care needs of parents with a child with a rare disease: results of an online survey, Youre whatever the patient needs at the time: The impact on health and social care professionals of supporting people with epidermolysis bullosa, National Rare Disease Plan for Ireland 20142018, Health Expectations : An International Journal of Public Participation in Health Care and Health Policy, http://creativecommons.org/licenses/by/4.0/, https://www.hse.ie/eng/services/publications/performancereports/october-to-december-quarterly-report-2018.pdf, http://www.thehealthwell.info/node/782547. . Unable to load your collection due to an error, Unable to load your delegates due to an error. Another limitation of the present study is that a convenience sample was used meaning that participants selfselected rather than being purposively sampled. [7] Members come from many backgrounds. We started the night before departing for Glacier National Park. In total, 156 responses were received from patients (n = 63) and caregivers (n = 93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive).A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an . 2012;67:904917. 2021 Apr 13;16(1):175. doi: 10.1186/s13023-021-01811-7. Bens Friends continues to expand this gift of love and support by creating more communities for folks sharing different great health challenges. When we recently asked our moderators what they love about their role, we got a variety of reactions. Main problems experienced by children with epidermolysis bullosa: a qualitative study with semistructured interviews, The experiences of young people with epidermolysis bullosa simplex: a qualitative study. Supporting sexuality for people living with epidermolysis bullosa The positive contribution of HCPs in community settings who initially had no knowledge of EB was also discussed. Kearney S, Donohoe A, McAuliffe E. Living with epidermolysis bullosa: Daily challenges and healthcare needs. It will include all clinical notes and recommendations from the providers your child saw during their visit as well as test results, referrals to specialists, and all medications (including new . In total, eleven families were interviewed, with the main difficulties experienced relating to their child being different from others and the pain their child experienced.9 This research also documented family difficulties, as well as restrictions on leisure time and employment. The condition usually shows up in infancy or early childhood. Accessed June 6, 2022. Never apply anything hot to the skin, and avoid using water warmer than your body temperature when bathing. Private services were utilized when difficulties arose with accessing appropriate publicly funded services. J Am Acad Dermatol. Setting and participants: Mapping the burden of severe forms of epidermolysis bullosa - Implications for patient management. Federal government websites often end in .gov or .mil. Like many other patients, do you also think that doctors know everything so you should believe and simply follow everything they say? 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. 10.1016/j.jaad.2012.01.016. JGe is the co-founder and vice chair on the board of Profession Patient Advocates in Life Sciences; a member of the board of trustees for the Healthcare Institute of New Jersey; a member of the board of directors for the Together Strong Foundation for NPC, and an employee of, and a stock holder and patent holder in, Amicus Therapeutics. It will all be set up for independent learning, at your convenience. Both cohorts had a strong desire for practical information which helped with everyday aspects of living with EB, particularly appropriate clothes and shoes which could minimize blistering. as he told the BBC that Epidermolysis bullosa was the "cruellest disease out . 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). The challenges of living with and managing epidermolysis bullosa Inherited epidermolysis bullosa. Epub 2022 Jul 18. and transmitted securely. FOIA Hence, a quantitative study would have had limited validity and would have lacked the richness of data generated by a qualitative approach. This approach enables the construction of knowledge to be guided by the participants data rather than any predetermined constructs (as might be the case in framework or other forms of top down analysis). Careers. 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). Well, Ive been building our Google Classrooms and library where our Moderators and Interns will be able to learn the skills and tricks of the Moderator Trade. EB is often identified at the time of birth and subsequently diagnosed and treated according to genotypic and phenotypic presentation. [PMC free article] [PubMed] [CrossRef] [Google Scholar], National Library of Medicine In comparison, the adult cohort felt that they could successfully manage EB. But we dont want to know your name or where you live. 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. Consequently, it was decided that adults and parents would be best placed to participate in the interview process. Usually epidermolysis bullosa blisters are noticed during infancy. Participants in both cohorts felt it was impossible for other people to understand EB unless they had it or lived with it. 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. Clipboard, Search History, and several other advanced features are temporarily unavailable. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach. sharing sensitive information, make sure youre on a federal Any trauma or friction to the skin can cause painful blisters. However, several participants highlighted one of the occasions where they would have appreciated support during serious infections or nonEBrelated hospital admissions. Some people dont develop signs and symptoms until adolescence or early adulthood. Epidermolysis bullosa (EB) is the term used to describe a group of rare genetic skin disorders which result in an extreme susceptibility to blister. One parent felt that her family was left to decide whether to have more children despite the genetic implications of this decision. In: Habif's Clinical Dermatology. You get one from each parent. What's new with common genetic skin disorders? 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. I did that once, that did not work at all and my feet were really badly blistered (Adult Participant 2). However, differing levels of need existed depending on the severity of EB and the cohort. Difficulties were particularly evident for those with clinically more severe forms of EB. 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 . Royal College of Surgeons in Ireland, Bethesda, MD 20894, Web Policies This could possibly be attributed to the fact that most adult participants had EBS. In contrast however, participants discussed inconsistent care delivered in hospital and communitybased settings. 2019 Feb 1;155(2):196-203. doi: 10.1001/jamadermatol.2018.4673. Martin K, Geuens S, Asche JK, Bodan R, Browne F, Downe A, Garca Garca N, Jaega G, Kennedy B, Mauritz PJ, Prez F, Soon K, Zmazek V, Mayre-Chilton KM. Although youre able to find useful information just by reading other members posts, you might still have a lot of questions in your mind. 2019 Jun 11;14(1):133. doi: 10.1186/s13023-019-1086-5. 2019 Jun 7;14(1):129. doi: 10.1186/s13023-019-1059-8. Dinulos JGH. You must be wondering what Seenie has been doing these days. Respondents ticked all applicable, Intensity of wound pain and itch (scored from 1 to 10) in the, Life decisions resulting from epidermolysis, Life decisions resulting from epidermolysis bullosa from the a patients perspective ( n, MeSH sharing sensitive information, make sure youre on a federal When it was first discovered no one within 500 miles knew what it even was, let alone how to treat it. Results: I and my daughter, Britanny, who was then 16 years old were new to the site. Numerous issues relating to the application and renewal of medical cards were discussed, frustrating participants who felt this process was unnecessary due to the chronicity of EB. Orphanet J Rare Dis. Minerva Pediatr. Another parent also voiced concern about attending appointments in a local hospital, as she feared her child catching a cold and how, if this did happen, it would have a detrimental impact on wound management. This could be achieved through referral to the patient organization DEBRA Ireland who have a dedicated family support service. Accessibility Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families. Member profiles include information about the country or region they are from, whether they are a patient or a caregiver, and details about their disease and treatments. Would you like email updates of new search results? Taylor & Francis Group; 2021. 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). 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. -, Tabor A, Pergolizzi JV, Jr, Marti G, Harmon J, Cohen B, Lequang JA. The present study also highlighted the psychosocial difficulties of caring for a child with EB. Today Brittany is 21 and married almost a year ago. 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. 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. Elsevier; 2021. https://www.clinicalkey.com. The skin is made up of an outer layer (epidermis) and an underlying layer (dermis). Another study examined the concerns of parents of children with EB in the Netherlands. Mellerio JE, Kiritsi D, Marinkovich MP, Haro NR, Badger K, Arora M, Dziasko MA, Vithlani M, Martinez AE. A potential solution to this issue could be closer links between specialists and nonspecialists with previous research highlighting that specialist EB HCPs identified liaising with nonspecialists HCPs as a key aspect of their role.24 Furthermore, The National Rare Disease Plan for Ireland25 recognizes the need to integrate modules and clinical/practical experience relating in the curricula of relevant healthrelated education/training programmes. 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. One of the biggest challenges faced by participants was the bureaucracy surrounding the accessing of services. We would also like to extend thanks to the research steering committee for their invaluable guidance and expertise. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Pain care for patients with epidermolysis bullosa: best care practice guidelines. Not surprising: each of our mods does their job in their own way! and transmitted securely. Click here to create an account and join. Before Living with epidermolysis bullosa can be hard; however, you can take steps to care for your skin to help prevent blisters from forming and get help to cope. A qualitative participatory action research approach guided the design of the study while thematic analysis of the data identified five distinct healthcare care needs. ALB has served as a consultant and an investigator for Amicus Therapeutics/Scioderm and Castle Creek, and as an investigator for Amryt, Fibrocell, ProQR, and Phoenix Tissue Repair. May you be ever so BLESSED!!! In: Ferri's Clinical Advisor 2022. 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. In this study, eleven children with various types of EB were interviewed using a semistructured guide. 2020 Nov;37(6):1198-1201. doi: 10.1111/pde.14340. -. Mayo Clinic. After Your Visit to the Epidermolysis Bullosa Center. In: Pediatric Dermatology in Skin of Color: A Practical Guide. 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. 2014;9:76 10.1186/1750-1172-9-76. Accessibility Although children's voices would add substantially to our knowledge and understanding of the challenges of living with EB, the purpose of this research was to inform the development of a community liaison service to support adults living with EB and the parents/carers of children living with EB. Junctional epidermolysis bullosa can show up at birth. All but one type, epidermolysis bullosa acquisita (EBA), are caused by gene mutations. Background: 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. This proves that although WE HAVE RARE DISEASE -RARE DISEASE DOESNT HAVE US. Participants also felt that their personal knowledge and expertise was ignored during healthcare interactions. Bolognia JL, et al. 2010;67:904. Wound International; 2017. https://www.woundsinternational.com. 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. Welcome to Living with Epidermolysis Bullosa Patient Community! We would like to acknowledge everyone who participated in the study and who gave their time and views so generously. National Library of Medicine Mayo Clinic on Incontinence - Mayo Clinic Press, Mayo Clinic on Hearing and Balance - Mayo Clinic Press, FREE Mayo Clinic Diet Assessment - Mayo Clinic Press, Mayo Clinic Health Letter - FREE book - Mayo Clinic Press, Book: Mayo Clinic Family Health Book, 5th Edition, Newsletter: Mayo Clinic Health Letter Digital Edition, Fragile skin that blisters easily, especially on the palms and feet, Scalp blistering and hair loss (scarring alopecia), Shows signs of infection, such as warm, painful or swollen skin, pus, or an odor from a sore, and fever or chills. Thematic analysis was selected as an approach to minimize this risk. The skin injury might be brought on by a minor injury, bump or nothing at all. Both adults and parents highlighted the need for appropriate support with physical care needs. (Adult Participant 5). It may therefore be the case that only those with enough resources (eg time and support) were able to participate, and that others who did not participate may have different understandings of support needed to manage EB. Participants were generally satisfied with these interactions and were kept updated in relation to new developments in EB treatments. Blistering may be mild when compared with other types. 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.