This document discusses communication and coordination challenges between medical professionals, parents of children with disabilities or rare diseases, and various organizations involved in their care. It notes that medical professionals are focused on clinical aspects and speak in jargon, while parents are overwhelmed and want answers. It advocates taking a "user focus" - focusing on the child's whole journey, sharing information proactively, and breaking down silos between professionals and organizations to best support the family.

1. Communication & Coordination
in Child Disability / Rare Disease
‘Focus on the User Need’

2. 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-based
language
• Are comfortable /familiar with
the layout of hospitals and
various tests/procedures
• Don’t always have answers
Parents & Carers
• Are worried beyond reason &
rationality
• Are out of their depth
• Are busy (work/family – the
merry-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 are
scared about tomorrow

3. CONSULTANTS
• Paediatric Neurologist (London Hospital
A)
• Paediatric Bladder Specialist (London
Hospital B)
• Neuromuscular Respiratory Specialist
(London Hospital C)
• General Paediatric Consultant (Local
Children’s Hospital D)
• Community Paediatrician (Local District
Hospital 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
• GP
Charlie
Mum
Brother
Dad
Brother
Assistive
Technology

4. USER
FOCUS
• 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 predict
ongoing need
• Tell the user what they need, where they go
next, how they access help and support, what
they have a right to expect
• Keep the user updated, preferably in real time
• Break down professional and organisational
silos (and pride) to put the user at the heart of
everything you do – its about the child, not you

5. 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 DATA
ICT
•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!

6. Myasthenia
Abnormal muscle weakness and fatigue
Congenital Myasthenic Syndrome (CMS)
• The CMS represent a group of currently incurable genetic conditions caused by a number of different
faulty 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 coding
for the structure and function of the neuromuscular junction means that the signal from nerve to skeletal
muscle doesn’t get across properly – the muscles fatigue and weaken rapidly making repetitive
movements, like walking, difficult or impossible.
• Many children have problems with movement, breathing, eating and drinking, and keeping their eyes
open (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 the
same gene fault.
• A few of the children are wheelchair-dependent, most however are mobile for short distances but need
chairs for anything further.
• The children are on frequent medication (for example, every three hours) relevant to their specific gene
fault to help boost the nerve signal and prevent a myasthenic crisis – where the muscle weakness can
affect breathing, with life threatening consequences.

7. 18m old, arriving at party 2 hrs later at tea...
Charlie
Presumed Congenital Myasthenic Syndrome
(CMS)
From birth. Investigated as general ‘mystery’ until presumed CMS
diagnosis Nov 2008
Ligamentous laxity & chronic pain From birth, first diagnosed Jan 2007.
Large capacity incompletely emptying bladder,
urinary incontinence and bowel incontinence
From birth, but not identified as ‘a problem’ until normal developmental
milestones 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.

8. Eyebrows raised, eyelids over pupil
On
pyridostigmine:

9. How fatigue
builds