Annual Review 2012 - DebRA

for people whoseskin doesn’t workwe doAnnual Review 2012Epidermolysis Bullosa.Funds are needed tosupport EB nursing,research and holistic careYour support is whatmakes the difference

“Your philanthropy supports those affectedby EB. Think about how much yourgenerosity can do to bring relief toEB families and also take us nearer tosuccessful treatments. Your donations willbe instrumental in moving us closer to aremedy for a distressing condition that”presently blights very many livesDEBRA PresidentRt. Hon. Michael PortilloDEBRA needs to raise£8,420 per day to continueour vital services and topush forward EB research.2

What is Epidermolysis Bullosa?Epidermolysis Bullosa (EB) is a group of geneticdisorders that result in fragility of the skin and, insome cases, other internal membranes andorgans. Blisters, open wounds and sores form asa result of the slightest touch, rub or trauma.Certain types of EB can be fatal in infancy andothers are severely life-limiting. We estimate thatthere more than 5,000 people with EB in the UK,and 500,000 worldwide.EB may be inherited in either a dominant (usuallyone parent carries the gene for EB and isaffected by the condition themselves) or arecessive form (where both parents carry thegene but are usually unaffected, so the birth ofan affected child is totally unexpected).EB can also arise through a new spontaneousmutation whereby neither parent carries EB yetthe gene mutates spontaneously in either thesperm or the egg before conception. Indominant EB, there is a 50% chance of passingthe disorder to children: in recessive EB thechance is 25%.Rarely, a severe form of EB can be “acquired” asthe result of autoimmune disease, whereby thebody develops antibodies to its own tissueproteins.EB can be divided into 4 main types: Simplex,Dystrophic, Junctional and the recently classifiedKindler Syndrome.There is currently no known cure for EB.Our purposeWe have a vision of a world where no one suffersfrom the painful genetic skin conditionEpidermolysis Bullosa (EB)Until that day, we offer specialist care to thosewho need itWe give support to people and families affectedAnd we provide real hope for the future byfunding pioneering research which will one dayfind a cure.DEBRA focuses its work in three areas:• We fund pioneering research to find effectivetreatments and, ultimately, a cure for EB.• We provide, in partnership with the NHS, anenhanced specialist EB Nursing Service todeliver optimal healthcare to children andadults living with EB.• We provide EB Community Care support tohelp people live with dignity. This is a serviceparents and people with EB can call on: toreach out for advice, advocacy in the face ofred tape, and emergency grants. We provideaccess to specially adapted holiday homesand opportunities for social interaction.We interconnect each of these areas to ensure aholistic approach to our care, from birth, for aslong as it is needed.Without your support people with EBwill not benefit from these servicesMason was born with Recessive Dystrophic EB.3

Making the differenceResearchDEBRA seeks £1,881,736 in 2013 to meet our research aimsDEBRA’s knowledge of EB is increasing and weare beginning to develop treatments which weexpect, based on extensive laboratory andpreclinical research, could offer real relief topeople with EB. Research represents hope andwe endeavour to balance our commitmentbetween projects we are confident will deliverbenefit in the near term, as well as those offeringmore significant long-term outcomes.DEBRA is now seeing a rapidly changing pictureof therapies progressing from laboratoryresearch, to preclinical studies, to clinical trials. EBresearch is dynamic and it is likely that eventual“cures” will be the result of an amalgamation ofvarious approaches currently in development,together with novel technologies and concepts asyet to emerge from fundamental research into EB.• Extraordinary progress has been made in ourunderstanding of the condition since DEBRAbegan funding research. As a direct result ofyour support we now know 12 genesassociated with the classic types of EB andincreasing knowledge is revealing many newgenes – another 5 or so to date – associatedwith rarer, or previously undiagnosed forms ofEB and conditions related to EB. We are theworld leaders in our field with only around onethird of other rare genetic conditions havingalso reached the point of identifying a causativegene.• DEBRA’s highly collaborative global approach toour work enables funding to be concentrated onthe best research most likely to lead toimproved treatments, and to be totallycoordinated to avoid unnecessary andexpensive duplication of research effort. Whenselecting our advanced and ground-breakingresearch DEBRA coordinates internationallywith DEBRAs and other EB research fundersaround the world.• We see DEBRA’s unique contribution asproviding seed funding to get research projects“off the ground”. This hugely successfulapproach allows ideas to be developed in thelab and through early stage trials to get to apoint where a commercial partner sees thedevelopments as a viable investment.Growing sheets of epidermal skin cells in the lab.• Because DEBRA researchers work withinuniversities and other research institutions webenefit from the infrastructure and resources ofthese organisations – allowing every pound youdonate to work much, much harder as we don’tthen pay for rents and expensive equipment.DEBRA International’s Medical and ScientificAdvisory Panel (MSAP) Board, in conjunctionwith senior EB researchers worldwide andpatient input, states that priorities forresearch funding are:• To spend research funds roughly 50/50 splitbetween long term and more immediate neartermbenefit.• To develop our understanding and practicalapplication of gene, cell and protein therapiesto manipulate the faulty genes that cause EB inorder to provide symptom relief.• Continue to develop our understanding andpractical application of wound healingtreatments. This will be a combination ofclinical and lab work with nurses andresearchers looking at effective dressings useas well as gene and cell manipulation.• Understand why squamous cell carcinomacancer is so aggressive in EB patients, andseek to understand if available treatments canbe of benefit in the near term.• Continue our commitment to understanding thecauses and make-up of EB and improvediagnosis expertise.4

DEBRA UK is seeking funding for thefollowing projects:£450,000 Aim: Phase I/II Clinical trial ofmesenchymal stromal cells in RDEB. Prof JohnMcGrath, Great Ormond Street Hospital forChildren NHS Trust (London) and UniversityCollege London. 3 year project.Bone-marrow derived MSC are multipotent stemcells that can differentiate into cell types in a widevariety of tissue, including skin. MSC are suitedto tissue-engineering and, when transplanted inthe bloodstream, they travel to the site of injury.Findings to date suggest that injections of MSCto treat EB report some benefits and limited sideeffects. This project will perform a phase I/IIclinical trial of intravenously administered bonemarrow-derived mesenchymal stromal cells(MSCs) in 10-20 children with recessivedystrophic epidermolysis bullosa (RDEB).£97,500 Aim: To document a natural history ofEB and validate Clinical Endpoints appropriate toTherapy Evaluation by industry and regulatoryauthorities. Dr Jemma Mellerio and Dr AnnaMartinez, Great Ormond Street Hospital andGuys & St Thomas. First 2 years of planned 5year programme.With many DEBRA funded research avenues nowleading to clinical trials it is imperative thatDEBRA is in the right position to developpartnerships to move the science into patientaccessible treatments. In order to do this, weneed to facilitate regulatory approval of potentialtherapies, and be able to attract industry andventure capital to invest in getting treatments intoproduction and be able to persuade healthcarefunders to pay for the therapy.DEBRA’s Translational Research Advisory Panel(TRAP) has advised that it is important forcompanies thinking of investing in clinical trialsto know there is a clear understanding of whatthe ‘normal’ course of the condition is.Additionally we must be able to show thattreatment under trial has been effective in such away as to ensure it will be accepted by theregulators who determine whether a treatment issafe and effective enough to be approved.€260,000 Aim: To develop therapies whichcombine ex vivo gene therapy with stem celltransplantation for Junctional EB. Prof. JohannBauer (Salzburg), Prof. Michele De Luca (Italy),Prof Christopher Baum (Germany). 3 year project.This project builds upon the success of the firstex vivo skin gene therapy trial in Italy. This PhaseI/IIa clinical trial will take stem cells from an EBpatient for the production of genetically modifiedskin grafts for use on the same patient. Thesegrafts can be repeated until large parts of thedamaged layers of the skin are covered with“new” skin. In this way several of the clinicalhallmarks of EB are combated:• No more loss of body fluids thus reduction inloss of proteins and peptides• Improved barrier defence against microbialinfection• Lessening likelihood of cancer developing dueto long-standing wound areas$250,000 Aim: To develop TALEN gene-correctiontechnology re individualised stem-cell therapyoptions for children with RDEB, Dr Jakub Tolar,University of Minnesota, I year project (selectedfor funding through the Sohana Research Fund)The ultimate goal is to develop safer, moreeffective, personalised treatment options for thechildren with EB, especially those undergoingthe systemic therapy of EB commonly calledBone Marrow Transplantation (BMT). In order toavoid serious transplant associated side effects,the ideal treatment would collect the patientsown cells, correct the gene defect, and deliverthe corrected cells back to the patient.This project proposes to unify two cutting edgetechnologies, involving the generation ofinducible pluripotent stem cells (iPS) – cellscapable of differentiating into any other cell type– and the powerful gene-editing, site directed,“molecular scissors” platform known as TALENsto realise the potential of individualised,genomic-medicine-based cellular therapy for EB.By the conclusion of the project, the aim is tohave provided proof of principle for the feasibilityof a truly individualised (therefore safer andmore effective), genomics-based medicineapproach for the treatment of EB.5

Making the differenceResearch£192,804 Aim: To be in a position to move toclinical trials of siRNA on EB Simplex (EBS)patients at the end of this three year project. ProfIrwin McLean, University of Dundee; AdrianHeagerty, Solihull Hospital.A new, very powerful technology known assiRNA has emerged that can allow researchersto switch off genes of their choice. siRNA is alsoremarkably discriminating and has the potentialto silence only a faulty gene without affecting anormal gene. Funded by a previous DEBRAgrant, we have recently developed siRNA thatcan target the defective versions of the keratingenes that are the cause of EBS.Here, we propose to further develop our siRNAaimed at two different mutations in the K5 gene,carried by large numbers of patients under ourcare, to set the scene for clinical trials in EBSpatients. These siRNAs will undergo rigoroustesting so that approval for human use can beobtained.€117,225 Aim: To investigate the genetics andthe mechanisms underlying Kindler Syndrome inan in vivo model system. Prof Arnaud Sonnenberg,Netherlands Cancer Institute. 2 year project.Kindler Syndrome is now recognised as a type ofEB in the international classification of EB.DEBRA-funded research identified it is causedby genetic changes in a gene called KIND1,which makes a protein called Kindling-1. Thisproject uses zebra fish and human cells toinvestigate the genetics and the mechanismsunderlying Kindler Syndrome - essentialinformation if patients are to benefit from bettergenetic diagnosis and future therapies.Pictured is Rob O’Neill who died aged 28, soon afterfulfilling his wish to drive a red FerrariSquamous Cell Carcinoma (SCC)ResearchIn severe EB the major cause of early death isthe development of an aggressive form of SCC,a type of skin cancer, which spreads to distanttissues (metastasizes) and eventually causesdeath. This is very different to its behaviour innon-EB patients where SCC rarely metastasizes.There are currently two research projectsidentified into SCC:£173,460 Aim: To understand why SquamousCell Carcinoma (SCC) behaves differently inpatients with severe forms of EB. Prof. EdelO’Toole, Barts & London School of Medicine.This extended project is pushing for abreakthrough in identifying a treatment for thisaggressive cancer. It looks at how the cellsinvade and also examines how growth factorspresent in EB skin cancer cells affect bloodvessel formation - a key mechanism of cancermetastasis. Stopping blood vessel formation innon-EB cancer is an important area in treatment,with many new drugs available. Data suggeststhat, as increased blood vessel formation isimportant in EB cancer, further understanding ofthis process could lead to a treatment for EBpatients with very aggressive SCC.£66,138 Aim: Pre-clinical assessment of PLK1inhibitors for the treatment of RDEB-associatedSquamous Cell Carcinomas (SCCs). Dr AndrewSouth, University of Dundee. 2 year project.Through DEBRA funded research, Dr South hasidentified that inhibition of PLK1, a proteinimportant for cell division, kills skin cancer cellsand has little effect on normal skin cells. Anumber of drugs which inhibit PLK1 are beingdeveloped and some are already in phase IIclinical trials for non-EB cancers. This project willtest a wide range of these inhibitors to determinewhich are most effective in treating EB skincancers and least toxic to normal cells. This trialaims to identify those PLK1 inhibitors that wouldbe most appropriate for a clinical trial on EBpatients with skin cancer.6

International Support – IndiaAs well as research grants, DEBRA UK, as theoriginal DEBRA, seeks to seed fund in-countrygroups to facilitate development where interest,potential and good support from the localmedical community is present.£15,835 Aim: Establish the first multidisciplinaryEB clinic in India based at Manipal Hospital andits affiliate hospitals in Bangalore. Co-ordinator:Dr Ravi Hiremagalore, Consultant PaediatricDermatologist. 1 year project.In India there are no specialised services forpatients with EB. A small team of dedicatedclinicians at Manipal Hospital, Bangalore, havecome together to provide medical care forpatients with EB. However, there are no structuredclinics run on a regular basis and no active followup is being done to monitor or support patients.If funding can be obtained, Dr Hiremagalore andhis team aim to:• set up a multidisciplinary clinic on a regularbasis once a month• employ a nurse who can coordinate thefunctioning of the clinic and liaise between thepatients and the EB consultant team• maintain patient data and have a regular followup of the patients evaluated• build a referral base for EB cases at ManipalHospital and establish a registry of patientdata for the purpose of research• employ a technician for data entry andmaintenance of records and documentation.£25could fund an hour of research time£10,000could develop increased understanding asto what we will need to do to move researchfindings from the laboratory to the clinic tobenefit patients; establish partnerships andacquire expertise to make this crucialtransition£16,000could set up the first EB specialist clinic inIndia£50,000could ensure our research programme ismanaged and monitored effectively£100,000would fund work at an international level inpartnership with DEBRA organisationsworldwide, ensuring information, aims andbest practice are sharedCulturing human skin cells fromEBS patients at DundeeUniversitySkin grafts grown in a labGrowing clinical grade iPSC in alaboratory7

Making the differenceEB Nursing ServiceDEBRA needs £591,297 in 2013 to continue our nursingand clinical care servicesThe EB Nursing service provides highlyspecialised care to children and adults livingwith EB. From the day of birth the EB nurse isavailable offering care and support toindividuals, families and local healthcareprofessionals.EB nurses work collaboratively with DEBRA inpartnership with the NHS, running clinics andhome visits to deliver the most effective carepossible.DEBRA continues to fund the specialised andenhanced nursing aspects of the service andother clinical activities which the NHS does notfund but which are essential for the optimal careof people with EB.The close partnership between the NHS andDEBRA means the EB Community has a set ofprinciples which clearly define the care thatsomeone living with EB can expect from each.DEBRA’s principal aim remains committed toensuring that all people living with any type ofEB across the UK have access to appropriatespecialist healthcare services.To maintain the highly specialised levels ofnursing and support needed by the EBCommunity, DEBRA seeks funding to provide thefollowing enhanced provisions of care.By contributing to the enhanced EBNursing Service, you will:• Take research from the laboratory to patient.It is vital to be able to translate researchfindings directly into patient care, and todocument these accurately and scientifically.This requires designated nursing time to reporton observations and outcomes so thattreatments can reach optimum efficacy andbest practice in care can be clearlyidentified and shared.• Establish and fund a Clinical DEBRA Fellowto support clinical EB services within theLondon hospitals (Great Ormond Street andGuys & St Thomas’), providing extra resourcefor clinical research within the teams andensuring continuity of EB expertise across bothhospitals.• Fund EB foot clinics – highly specialisedclinics with EB experienced podiatry on offer.Blisters, foot infections and exposed nail bedsare a source of constant distress and meansthese clinics are always oversubscribed.• Evaluate new products directly with EBpatients, and feedback results for constantimprovement. DEBRA is constantly looking forproducts that will improve the quality of life forsomeone with EB. New dressings, even newclothing and bedding materials might belooked at with a view to evaluating theirpotential benefit to the EB community.• Provide a funded educational time allocationfor EB knowledge and care-skill transfer to awider audience of healthcare professionals.Knowledge and skill transfer prevents potentialproblems and encourages optimal care forEB patients.• Raise awareness of EB as nurses give indepthpresentations at dermatologyconferences, pharmaceutical meetings and inother public arenas. Such awarenessincreases the likelihood of EB diagnosisand EB-friendly treatments being producedand prescribed.Jackie Denyer, EB Nurse Consultant (left of picture).8

• Update, maintain and add new titles to theDEBRA library of publications accessible tothe EB community, carers and healthcareworkers 24/7. Grazed an eye? New baby onthe way? Child starting playgroup? Wonderingwhat foods to avoid? DEBRA’s library aims toprovide answers to all these questions andthousands more every day.• Provide additional vital bereavement supportover and above that which is provided by theNHS. The relationship between family and EBNurse is a very special one. The bereavementsupport service allows fullness of time forthe nursing team to provide the supportthey feel is right, according to need.£290ensures that people with EB have access toa specialist podiatrist at a foot clinic£609is the predicted daily cost of DEBRAfunded enhanced EB nursing activitiesacross the UK in 2013£9,000ensures that each of the EB specialistnurses can access training and the mostup to date information about EB and clinicalcare for patients£40,000will ensure that as senior EB nurses reachretirement in the next few years we have thenecessary resource in place to ensurecontinuity of service to patients and retainthe amazing amount of experience andexpertise gained in the field of EB nursingover the past 25 years£65,000will cover the annual cost of a new ClinicalFellow to work support the clinical serviceand undertake new projects and initiativesThe DEBRALibrary ofPublicationsFor patients, families and friends, adiagnosis of Epidermolysis Bullosa carrieswith it great uncertainty. There is so much tolearn about EB: its symptoms, treatmentsand everyday living with EB.As well as providing overview informationalbooklets for EB, answering all the keyquestions a new diagnosis of EB brings forpatient and families alike, DEBRA alsoproduces information for professionals andcarers. The following titles are just a few ofover twenty-five titles on offer. We areaiming to review and update many of thesetitles, identify gaps and developpublications to meet the needs of peopleliving and working with EB. Ultimately, thesewill become an online Library for access toinformation any time of the day or night.• Caring for Hands in EB• Eye Care in EB• A Guide to Physiotherapy Treatment forChildren with Epidermolysis Bullosa• The Role of Physiotherapy in the school -child with EB• Epidermolysis Bullosa: A Guide forParents, Schools & Playgroups• Nutrition for Babies with EB• The new baby with EB• Care of the women with EB duringpregnancy & childbirth – forprofessionals• Pregnancy & Childbirth in EB – a guidefor expectant mothers• EB - An Outline for Professionals• Clinical Management of Children &Adults with Epidermolysis Bullosa*Please note: The costs shown are in no way indicative of salary and include variousother costs associated with the provision of the service outlined.9

Making the differenceEB Community CareDEBRA needs £600,300 in 2013 to provide ourEB Community Care serviceIn 2012 DEBRA extended a comprehensive EBCommunity Care service to Scotland andexpanded provision in the south of England as adirect result of your support and savingsachieved through the new NHS nursing careprovision. We also strengthened our MembershipTeam, with the aim of communicating moreeffectively and directly with people living with EB.We aim to ensure that the views of the EBCommunity are heard and their needs remain atthe heart of everything we do.Our five regionally-based EB Community CareManagers are specialists in their area of EB.They are available to provide support to familieswhen a new diagnosis of EB is made, then to theindividuals and their families as they movethrough education and into the workplace. Theyhelp people deal with the many practical andemotional effects of having EB.“Just speaking to one of the EB CommunityCare managers can be rewarding,motivating and supportive. You will nolonger feel totally alone and if there is away they can help you then you can restassured they will do their best to do so.DEBRA is a cracking organisation andbunch of people working so hard forpeople with EB and driving research.I’d like to use this opportunity to say apublic THANK YOU to them.”Nick Bailey, EB SimplexBy funding the DEBRA EB Community CareTeam today you will:• Provide special days/breaks for children/adults where groups of people with EB canmeet, share experiences and take part inactivities that people without EB take forgranted. These trips give parents and carers awell deserved break and boosts theconfidence of children and adults alike.• Unlock the ability for people to liveindependently by helping adults to accessavailable support such as employmentopportunities, housing through local councils,home adaptations, and even grants whichenable people learn to drive specially adaptedvehicles etc.• Open doors to education and job prospectsthrough the provision of advocacy to accessappropriate schools, or help young peopleapply to university and colleges. DEBRA EBCommunity Care Managers also work withchosen educational institutions to raiseawareness of EB and where required makeadaptations and organise support so thatchildren and young adults with EB can get themost from their education.• Alleviate the stress and burden that moneyworries cause families and individualswith EB. ‘DEBRA Support Grants’ can bemade available to help to adults, young peopleand children in unexpected need and direhardship. Usually one-off payments, thesemight be for hospital travel costs, heating billsand vital equipment such as heavy loadwashing machines and cooling fans.• Ensure DEBRA’s holiday homes continueto provide a safe place for families and peopleto take a break. The four holiday homeslocated in Scotland, Weymouth and most therecent addition in Poole, often provide the onlyholiday a family can take. They are incrediblypopular and at almost full occupancy. We mustclose the one in Scotland in 2013 as it hascome to the end of its useful life, but if fundingis forthcoming we aim to replace it.• Provide emergency hospital packs whichconsist of everyday items a person with EBmight need when they find themselvesunexpectedly back in hospital. Items such asspecial toothbrushes, toothpaste, soft foods, orsuitable night clothes are provided.* Name changed to protect identity10

One of DEBRA’s holiday homes in WeymouthThe interior of DEBRA’s holiday homesAccessing educationOne of the DEBRA EB Community CareManagers met Katie* at a DEBRA MembersDay/AGM. Katie is a 24 year old woman who isliving with Recessive Dystrophic EB. Having leftschool some years ago Katie was keen to studyon a course which would give her a qualificationto enable her to work with children. When sheenquired about this, she was advised thatbecause of her condition, a career working withchildren may not be suitable. As a result of thisadvice she gave up her ambitions to study andmostly spent her time at home.The DEBRA EB Community Care Manager tookthe time to learn about Katie’s interests andambitions and understand the advice she hadbeen given. A date was arranged for the EBCommunity Care Manager to meet with Katie andher family. After visiting twice at home and havinga number of more detailed conversations withKatie, the EB Community Care Manager was ableto help identify what support Katie required fromDEBRA.Advice about educationKatie needed advice and information abouteducation and the support available for peoplewith disabilities. There is new legislation: ‘TheEquality Act’ which states that people withdisabilities are a protected group and thatorganisations must have systems in place tosupport them.AdvocacyKatie needed help to find the right place to studyand supportive documentation to achieve aplace. The EB Community Care Manager assistedKatie to search through the web sites of localcolleges and universities so that she could makea decision about which course she wanted to do.It was important to consider the level of supportshe might need.Once Katie had decided which college courseshe wanted to study, she completed anapplication form and asked the EB CommunityCare Manager to contact the college to advocateon her behalf. A reference was provided and sentto the college in support of Katie’s application.OutcomeKatie was invited to attend an open day and foran interview. The EB Community Care Managerdiscussed the possible interview questions,and also planned the questions Katie could ask.Ultimately, Katie accepted a place at herchosen college.*Name changed to protect anonymity11

Making the differenceEB Community CareOur aims:• To raise awareness of the EB Community Caresupport services on offer, exploringopportunities and undertaking new initiativesand ensuring fair access across the UK forpeople living and working with all types of EB.• Develop and increase provision within theteam to meet the increasing demands forsupport and to ensure the service is flexibleand diverse in delivering bespoke andpersonalised needs for those living with anytype of EB.• Increase the number of breaks, outings, socialevent attendance, group-work and networkingand explore opportunities for establishingsibling and carers support groups.*Please note: The costsshown are in no wayindicative of salary andinclude various other costsassociated with the provisionof the service outlined.£3,000funds our Focus Groups, to gather directfeedback from people living with EB regardingtheir needs and how DEBRA can meet them£5,000will enable us to hold a “regional day”, wherefamilies with EB can access support andinformation, find out more about EB and servicesin their area, and meet other families in similarsituations for peer support and to share experiences£6,000covers running costs for a single holidayhome for one year£12,000would fund essential health and welfareinformation, and regular updates to peoplewith EB£35,000could fund a EB Community Care Manager forone year*£45,000provides anticipated 2013 Support Grantsdirectly to families in dire need£75,000replaces a much used, and worn out holiday homeAdults with EB on a weekend outing in Liverpool12

Case StudyAmy’s Story"EB affects my everydaylife hugely but I wouldadvise anyone who hasEB to live how they wantand to try and get thebest life they can."Amy (left) enjoying a night out with friendsAmy lives in North Yorkshire and has RecessiveDystrophic EB which affects her whole body.Having grown up with EB, Amy has theconfidence to know what's best for her: "I try andtrust my instincts when it comes to my health, Iknow my condition better than any doctor ornurse, that's not to say I ignore their advice, but Ido trust what I think.""I try to avoid hospital. If I'm worried I do go fortreatment, but other than that I stay away. I tryand fit my care around work and not the otherway around although I do have to get up veryearly to be ready in time. I have a bath everymorning and change all my dressings whichtakes around two and a half hours. I needexperienced help with this as my dressings arequite complicated - Pauline is my DEBRA EBnurse and is a great help to me, if anything goeswrong she is there."Amy works three days per week as a teachingassistant at a local primary school: "I've been atthe school quite a few years now so most of thekids know me, but if they don't they're not afraidto ask and are not really bothered once EB isexplained. The staff are great fun to work withand I think I've surprised them with how much Ican do. It's lovely to work with the same childrenover a full school year and I've built a goodrelationship with my class."Amy lives with her family and has good friendsliving locally. She particularly enjoys going tomusic gigs, which act as an unusual source ofpain relief. "I don't think about the pain when I'mat a concert, only afterwards! My friends arebrilliant, they help me with my wheelchair if Ineed it and drive me around when my eyes arebad. We go to the cinema and out for meals - Ican't eat many foods because my oesophagus isrestricted, but there is usually something suitableon the menu. I have a Gastrostomy button in mystomach through which I get extra food at night. Ialso take pain killers through the Gastrostomytube as I can't swallow them.""As for the future, I just hope to carry on as I'mdoing, stay healthy and maybe do some coursesto help me progress as a teaching assistant. Youhave to get on with life as best you can. My EB isnever an issue, it's just something else I have totake into account."Amy (pictured right) with friends13

Our StoriesEB Simplex is the considered the least severeform of EB but affects the greatest number ofpeople, with approximately 70% of people withEB having this type. There are, however rarerforms of EBS which have proved fatal in infancy.With EB Simplex, blistering is usually confined tothe hands and feet, making holding things andwalking extremely painful.“Daisy often asks: ‘Why do I have blisters Mummy?’Dystrophic EB is more severe, affecting thewhole body including inner body linings. Thewounds heal very slowly, giving rise to scarring,physical deformity and significant disability.Approximately 20% of people with EB haveDystrophic EB. People with Recessive DystrophicEB also have an exceptionally high risk ofdeveloping skin cancer, shortening their lives byapproximately 30-40 years.“If love was a cure Mason would havebeen cured, he is so loved by everyonethat meets him and is one hell of acharacter!”Kerry, Mason’s MumDaisy’s hands and feetFive year old Daisy, pictured here with brotherJoseph, finds it difficult to understand whyblisters appear on her skin every day. It’s noteasy to explain why she is in so much pain, andwhy her parents and all the doctors and nursescan’t make her better.Her father explains: “Our family life has changedsince we've had Daisy, many hours are taken justby making Daisy comfortable. Sometimes wehave to abandon days out because Daisy is justnot well enough to go.Daisy’s started school now and it’s been adifficult learning curve for both us and theschool. A DEBRA specialist nurse visited theschool to explain EB and help them understandDaisy’s needs”.Daisy with brother JosephMasonWhen he was born, the skin was missing from hisright foot and leg and the top of his left foot. Thehospital emailed photos of Mason’s body to JackieDenyer, a specialist EB DEBRA nurse at GreatOrmond Street Hospital, who confirmed it was EB.The severity of Mason’s condition means that hehas already been critically ill after the lining of hisoesophagus came away. He now cannot swallowfood, fluid or medication and he has to be fedthrough a Gastrostomy button in his stomach.If Mason tried to eat or drink anything in thenormal way it would go into his windpipe anddown to his lungs.Junctional EB can be the most severe form ofEB, Herlitz JEB is usually fatal in infancy with onlya few babies surviving the second or third yearof life. Approximately 10% of babies born withEB have a form of Junctional EB. It is inherited14

Treasurer’s ReportNet IncomingResourcesCharitableExpenditureSurplus/(Deficit)UnrestrictedReservesDEBRA had a successful year financially in 2012, with a netincome of £2.7m and an operating surplus of £700k. Thefinancial objective for the year was to maintain reserves at thepolicy level of £900k undesignated cash-backed freereserves. This was achieved whilst still maintaining the samelevel of charitable expenditure as 2011 in addition todesignating a further £951k for future research. Outlinedbelow is a table of the last 6 years’ results, showing themovement in DEBRA’s financial position over that period.2012 2011 2010 2009 2008 2007£2,659,050 £3,907,903 £2,740,354 £2,063,630 £2,100,845 £2,297,146£1,959,941 £2,009,763 £1,993,962 £1,719,547 £2,343,273 £2,685,327£699,109 £1,898,140 £746,392 £344,083 £(242,428) £(388,181)£3,132,175 £2,656,840 £1,300,109 £549,367 £218,499 £392,774The surplus during 2012 and the resulting growth in reservesis a commendable achievement by the charity during aperiod of economic austerity. The charity is financially strongand can make new commitments to charitable expenditure in2013 with confidence. Net fundraising income from the verysuccessful Sohana Research Fund achieved £386k in 2012compared with £943k in 2011. On the retail side, there wassignificant planned expansion into leased shops in 2012,including two large Furniture and Electrical shops. Set upcosts associated with this expansion were written off asincurred, which was the major contributing factor to net retailincome dropping by £527k compared with 2011.DEBRA remains one of the charity sector’s top retail giftaid performers, achieving 40% of sales gift aided in 2012.This enabled the charity to reclaim £670k from the HMRC inthe year.Although charitable expenditure remained static at £2mduring 2012 compared with 2011, there are plans in place tosignificantly increase this in future periods. There was abalance of £786k in the Sohana Research Fund at the end ofthe year, which will be spent on new Recessive DystrophicEB research projects and clinical trials. In addition, during2012 the trustees designated a further £951k to futureresearch projects.DEBRA negotiated increased funding from the NHS for theEB nursing service from 1st April 2011, which saved DEBRA£243k in 2012. This amount has been designated for newhealth and EB Community Care projects, ensuring all savingsare ploughed back to the benefit of the EB community. Ongoingsavings will continue to be added to the fund, withinwhich a contingency of £150k will be held as a buffer in theevent of future withdrawal of funding. Expenditure from thisfund was £79k in 2012, and is expected to increase in futureperiods as new projects are developed.Unrestricted reserves grew during 2012 from £2.7m to £3.1mand after accounting for designated funds, the general funddeclined from £1.7m to £1.4m. There was significant growthin restricted reserves from £583k to £807k, largely from thegrowth in the Sohana Research Fund. Total designated fundsgrew during the year from £974k to £1.7m.Cash-backed free undesignated reserves were at therecommended policy minimum level of £900k. Thesereserves are both unrestricted and undesignated, andexclude all fixed assets except 50% of unrestricted freeholdproperty. This represents the level of reserves the charity canaccess immediately, or mortgage at short notice, which arenot designated for a specific purpose.The support from DEBRA’s Royal Patron HRH The Countessof Wessex, the Appeals Council and DEBRA’s PresidentMichael Portillo have all been invaluable during 2012.Summary accounts are shown on the next page. These havebeen prepared from the full financial statements of DEBRA,on which the auditors expressed an unqualified opinion, andwhich will be put to the members for approval at the AGM on18th May 2013. The full financial statements are filed eachyear with the Charity Commission and the Registrar ofCompanies. The summarised financial accounts shown hereare not the company’s statutory accounts and may notcontain enough information to allow for a full understanding ofthe financial affairs of DEBRA. For further information, the fullfinancial statements should be consulted, copies of which willbe available on request from the DEBRA office.David SpenceThe auditors’ statement on summarised financial statementsIndependent Auditors’ statement to the Members ofDEBRAWe have examined the summary financial statement for the yearended 31 December 2012.Respective responsibilities of trustees and auditorThe trustees are responsible for preparing the summarisedannual report in accordance with applicable United Kingdom law.Our responsibility is to report to you our opinion on theconsistency of the summary financial statement within thesummarised annual report with the full annual financialstatements and the Trustees’ Report, and its compliance with therelevant requirements of section 427 of the Companies Act 2006and the regulations made there under.We also read the other information contained in the summarisedannual report and consider the implications for our report if webecome aware of any apparent missstatements of materialinconsistencies with the summary financial statement. The otherinformation comprises only the Treasurer’s report.Our report has been prepared pursuant to the requirements ofthe Companies Act 2006 and Charities Act 2011 and for no otherpurpose. No person is entitled to rely on this report unless sucha person is a person entitled to rely upon this report by virtue ofand for the purpose of the Companies Act 2006 and CharitiesAct 2011 or has been expressly authorised to do so by our priorwritten consent. Save as above, we do not accept responsibilityfor this report to any other person or for any other purpose andwe hereby expressly disclaim any and all such liability.Basis of opinion: We conducted our work in accordance withBulletin 2008/3 ‘The auditors’ statement on summary financialstatement in the United Kingdom’ issued by the AuditingPractices Board. Our report on the charity’s full annual financialstatements describes the basis of our opinion on those financialstatements and on the Trustees’ Report.Opinion: In our opinion the summary financial statement isconsistent with the full annual financial statements and theTrustees’ Report of DEBRA for the year ended 31 December2012 and complies with the applicable requirements of section427 of the Companies Act 2006, and the regulations made thereunder.We have not considered the effects of any events between thedate on which we signed our report on the full annual financialstatements (1 May 2013) and the date of this statement.Auditors: BDO LLP, Statutory Auditor, Gatwick, United Kingdom,24th April 2013BDO LLP is a limited liability partnership registered in England and Wales(with registered number OC305127)16

Financial overviewSummary Statement of Financial Affairsat 31 December 2012Summary Balance Sheetat 31 December 20122012 2011Income££Voluntary 1,774,624 1,816,586Corporate 291,700 619,257International 1,023 1,046Grants Receivableand Trust Income169,873 188,089Legacies 461,869 566,015Trading - Shops 7,381,003 7,696,891Trading - Events 818,469 910,978Other Income 100,962 124,387Bank Interest 44,882 55,747Total 11,044,405 11,978,996Costs of Generating FundsFundraising Activities - Shops 7,306,913 7,095,751Fundraising Activities - Events 502,497 476,494General Fundraising & Publicity 575,945 499,028Total 8,385,355 8,071,093Net incomingresources availableCharitable Expenditure2,659,050 3,907,903Research Grants 717,954 882,200Healthcare 462,867 489,839EB Community Care 382,704 271,979Respite Breaks 18,819 30,639Public Education 218,822 189,192Governance Costs 158,775 145,914Total 1,959,941 2,009,763Performance IndicatorsCharitable spend per £ raised(including net trading activities)Fundraising efficiency(excluding trading activities)Retained Surplusas a % of income2012£2011£Fixed Assets and Investments 792,434 688,987Current Assets 5,630,369 4,815,018Creditors (2,463,046) (2,158,816)Net Current Assets/(Liabilities) 3,167,323 2,656,202Long Term Creditors (20,147) (104,688)Total assets less liabilities 3,939,610 3,240,501Represented by:Restricted Funds 807,435 583,661Unrestricted Funds– designated1,699,742 973,622Unrestricted Funds– general fund1,432,433 1,683,218Total 3,939,610 3,240,5012012 201161p* 45p79.8% 85.2%6.3% 15.8%*There has been a significant increase in reserves during thelast two years for future increased charitable spend.The charitable spend plus increase in reserves per £ raisedwas 82p in 2012 (2011: 89p).Net Income 699,109 1,898,140Fund balances b/f 3,240,501 1,352,361Fund balances c/f 3,939,610 3,240,501CharitableExpenditurePublic EducationRespite BreaksGovernanceCostsResearch GrantsEB Community CareHealthcare17

Trusts and FoundationsOur gratitude goes to each and every one of the charitable trusts who have given so generously towardsour work during 2012. The following are just a few of our many trust supporters that we would like tothank in particular:The William Brake Charitable TrustBill Brown’s Charitable Settlement of 1989The Pamela Champion FoundationBaron Davenport’s CharityThe Dorus TrustThe Dyers’ Company Charitable TrustThe Eastcheap Charitable TrustThe Eveson Charitable TrustThe G F Eyre Charitable TrustThe Forest Hill Charitable TrustThe Joseph Strong Frazer TrustThe Hamilton Wallace TrustThe Hargreaves Beare CharityThe Hilton in the Community FoundationThe Popli Khalatbari Charitable FoundationThe Klahr Charitable TrustThe Enid Linder FoundationThe Alexander Moncur TrustThe William and Mabel Morris Charitable TrustThe Margaret Murdoch Charitable TrustThe Murphy-Neumann Charity Company LimitedThe Northwood Charitable TrustThe Phoenix International CharityThe RIADA TrustThe Coral Samuel Charitable TrustThe George Stewart Charitable TrustThe W M Sword Charitable TrustThe Take That TrustThe James Walker FoundationThe Garfield Weston FoundationThe Whittington Charitable TrustWilliam Grant & Sons LtdThe Lillie C Johnson Charitable Trust18

Key personnelPatron: HRH The Countess of Wessex, GCVOLife Patron: Philip EvansPresident: Rt Hon Michael PortilloVice Presidents: Anthea Turner, Frank WarrenCEO: Ben MerrettDirector of Research & International: John DartDirector of Finance: Carol HarrisDirector of Nursing & EB Community Care:Claire MatherDirector of Fundraising & Communications:Louise TaitDirector of HR: Louise WestphalenEB Nurse Consultant (Children):Jacqueline DenyerEB Nurse Consultant (Adults): Elizabeth PillayTrusteesChair: Roger WakefieldVice Chair: Robin HoodTreasurer: David SpenceSecretary: Scott O'SullivanDavid Bendor-Samuel, Simone Bunting, RobinEady, James Hinchcliffe, Robin Hood, Jim Irvine,Irene Leigh, Amy Livesey, Amy Price, MelissaSmith, John Tough.International Medical andScientific Advisory PanelDEBRA manages the peer review system for allmember groups of DEBRA International. We aregrateful to the distinguished members of theInternational Medical and Scientific AdvisoryPanel for their advice and support.Chair: Prof. Leena Bruckner-Tuderman, (Germany)Members: Prof. Giovanna Zambruno (Italy),Prof. Robin Eady (UK), Prof. Jo-David Fine (USA),Dr. Adrian Heagerty (UK), Prof. Helmut Hintner(Austria), Prof. Irene Leigh (UK), Prof. ThomasMagin (Germany), Dr. John Marshall (UK),Dr. Jemma Mellerio (UK), Dr. Guerrino Meneguzzi(France), Prof. Lydia Sorotkin (Germany),Prof. Jouni Uitto (USA)DEBRA UK Medical & Scientific Adviser:Prof. John McGrathAppeals CouncilPeter Alliss, Elizabeth Anson, John Appleby, JitAujla, Ian Barker, Jodie Barwick Bell, Colin Basey,Stephen Benton, Richard Bevan, GrahamBoanas, Diana Boulter, Grant Bovey, StephenBraithwaite, Philip Bujak, Jason Colchin-Carter,Leslie Collett, Kevin Craig, Simon Crees, EdwardJames Dawes, Jeff Derx, Phil Doran, JustinDowley, Chris Dulley, John Duncombe, AntonEdelmann, William Edwards, Jonathan Exton,David Ferney, Peter Fincham, David Ford, KevinFordham, Peter Freeman, Anoesjcka Gianotti,Paul Gold, Richard Grove, Paul Herman, PaulHewitt, Mark Hopton, Jim Irvine, Gavin Jackson,Lorraine Jackson, Tony Jarmyn, KorneliaJohnson, Keith Jones, Bob Jones, Paul Kennedy,Bryan Kennett, Martin Lamb, Malcolm Le May,Jim Leng, Andrew Linden, Val Lipton, LukeLloyd-Davies, Rick Lowe, Stuart Lucas, JohnMacgregor, Simon Mackenzie-Smith, KeithMannering, Simon Marriott, Graham Marsden,Tim Marsden, Freddie Martin, Mick McCarthy,David Merricks, Michael Metcalfe, Chris Mills,John Molyneux, Mark Moring, Mark Morris, NickyMorris, Michael Morrison, James Murgatroyd,Peter Nixson, Katie O'Neill, Alan Pierce, GillianPigott, Ian Pigott, Mark Plowman, David Poole,Michael Portillo, Richard Purdey, David Quysner,Ashok J Rabheru, Nadeem Rahman, DameMervyn Redding, Martyn Reeves, Fiona Rickard,Steve Rider, Simon Robinson, Catherine Roe,Carl Rutherford, Vincent Scudder, Richard A PSheehan, Julian Small, David Spence, RichardStarr, Brian Steatham, Sallyanne Steatham, NeilSummers, Sven Thiele, Mick Thomas, KarenThomas, Anthea Turner, Richard Vardy, ErwinVinall, Roger Wakefield, Carol Walpole, SimonWarr, Frank Warren, Steve Waygood, Colin Webb,Dick Weller, Alan White, Lynn Whitnall, JohnWilford, David Wilkinson, Rob Willsdon, AngusWilson, Paul Woolston.19

for people whoseskin doesn’t workwe doDEBRA is a charity registered in England and Wales (1084958) and Scotland (SC039654).DEBRA House, 13 Wellington Business Park, Dukes Ride, Crowthorne, Berks RG45 6LS.Tel: 01344 771 961 Email: debra@debra.org.ukPatron HRH The Countess of Wessex, GCVOPresident Rt Hon Michael PortilloChair Roger WakefieldCEO Ben Merrett