Communication & Coordinationin Child Disability / Rare Disease‘Focus on the User Need’
Something is wrong with my child…Doctors & Medical Professionals• See medical complexity daily• Are familiar with ‘bad news’• Are busy• Have many patients• Are often highly specialised• Speak a jargon-basedlanguage• Are comfortable /familiar withthe layout of hospitals andvarious tests/procedures• Don’t always have answersParents & Carers• Are worried beyond reason &rationality• Are out of their depth• Are busy (work/family – themerry-go-round doesn’t stop)• Have TOTAL focus on one patient• Have no specialist knowledge• Do not understand your language• Are lost• Expect answers• Their child is still ill; they arescared about tomorrow
CONSULTANTS• Paediatric Neurologist (London HospitalA)• Paediatric Bladder Specialist (LondonHospital B)• Neuromuscular Respiratory Specialist(London Hospital C)• General Paediatric Consultant (LocalChildren’s Hospital D)• Community Paediatrician (Local DistrictHospital E)• Regional Eye Hospital (Hospital F)COUNCIL / LEA• School / one-to-one (School)• LEA SEN team (County Council)• Educational Pyschologist• Social Services CDT (County Council)• Social Services OT (County Council)• DLF grants officer (District Council)• Council Tax benefits (District Council)CENTRAL GOVERNMENT• DWP – Disabled Living Allowance• HMRC• (Motability)Local Health Support• Physiotherapist• Occupational Therapist• Speech & Language Therapist• Continence Service• Wheelchair Service• Health Visitor• GPCharlieMumBrotherDadBrotherAssistiveTechnology
USERFOCUS• Focus on the user, not just part of their journey• Look at the ‘whole’ not just your one‘specialism’• Share information to make the journey easier• Be proactive - use the data you have to predictongoing need• Tell the user what they need, where they gonext, how they access help and support, whatthey have a right to expect• Keep the user updated, preferably in real time• Break down professional and organisationalsilos (and pride) to put the user at the heart ofeverything you do – its about the child, not you
Digital•Communicate via digital channels!•Most families have email•Most families are on Facebook / yahoo groups etc (229 MyasthenicKids)•Most families of disabled children hold a black belt in Google-Fu…Data•Use data to identify common journeys, common needs for each disease•Use data to predict outcomes and future needs as children grow•Use data for Research: identify clinical and therapeutical best practice /identify similar symptoms of children with rare disease•Just wait till whole genome sequencing is as cheap as chips = BIG DATAICT•To share information about the user with those that need it•To enable communication and collaboration around the user’s needs•To facilitate coordination of activity and support around the user•To plan around the user (not the organisation)•But most of all, GET AN ELECTRONIC PATIENT RECORD WORKING!
MyastheniaAbnormal muscle weakness and fatigueCongenital Myasthenic Syndrome (CMS)• The CMS represent a group of currently incurable genetic conditions caused by a number of differentfaulty genes affecting various parts of the neuromuscular junction.• The syndrome has an occurrence of just one or two in a million. A fault in one of the many genes codingfor the structure and function of the neuromuscular junction means that the signal from nerve to skeletalmuscle doesn’t get across properly – the muscles fatigue and weaken rapidly making repetitivemovements, like walking, difficult or impossible.• Many children have problems with movement, breathing, eating and drinking, and keeping their eyesopen (ptosis) and in focus as the fault affects all skeletal muscles.• Some are more mildly affected, others more seriously – severity can vary even within families carrying thesame gene fault.• A few of the children are wheelchair-dependent, most however are mobile for short distances but needchairs for anything further.• The children are on frequent medication (for example, every three hours) relevant to their specific genefault to help boost the nerve signal and prevent a myasthenic crisis – where the muscle weakness canaffect breathing, with life threatening consequences.
18m old, arriving at party 2 hrs later at tea...CharliePresumed Congenital Myasthenic Syndrome(CMS)From birth. Investigated as general ‘mystery’ until presumed CMSdiagnosis Nov 2008Ligamentous laxity & chronic pain From birth, first diagnosed Jan 2007.Large capacity incompletely emptying bladder,urinary incontinence and bowel incontinenceFrom birth, but not identified as ‘a problem’ until normal developmentalmilestones in this area passed – early 2009.AbnormalSleep Studies From birth – on CPAP at birth for breathing difficulties. Related to CMS.Concerns ongoing plus abnormal sleep studies over last two years.
Eyebrows raised, eyelids over pupilOnpyridostigmine: