Multidisciplinary care for Hurler syndrome
Hurler syndrome (severe mucopolysaccharidosis type I, MPS I-H) is a complex, multisystem condition. Even with haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), children and adults need coordinated input from many different specialists. This multidisciplinary care is just as important as HSCT and ERT for protecting organs, managing symptoms and preserving quality of life over the long term.
This page explains who is usually involved in multidisciplinary care for Hurler syndrome, what each specialist does, and how good coordination can make day-to-day life safer and easier for families.
A team approach to a multisystem disease
Multidisciplinary care means that different specialists work together as a team, rather than seeing a child in isolation. For Hurler syndrome, this usually includes:
A metabolic / inherited metabolic disease specialist and/or paediatric neurologist
- Transplant physicians (for those who have HSCT or are being assessed)
- Organ-specific specialists (cardiology, respiratory, orthopaedics, ENT, ophthalmology, dentistry)
- Rehabilitation professionals (physiotherapy, occupational therapy, speech and language therapy)
The goal is to build a joined-up plan that covers disease-modifying treatment, surgery, rehabilitation, mental health and social participation.
Who is usually on the team?
Metabolic / MPS specialist
- Confirms the diagnosis and phenotype (severe MPS I-H vs attenuated)
- Leads decisions on HSCT, ERT and clinical trial suitability
- Coordinates monitoring of organ involvement and long-term follow up
Transplant team (HSCT)
- Assesses eligibility and timing for HSCT
- Manages conditioning, transplant, early complications and engraftment monitoring
- Works closely with metabolic team on peri-transplant ERT and long-term outcomes
Cardiology
- Monitors valve disease and heart muscle function with regular echocardiograms
- Manages heart failure, arrhythmias and blood pressure
- Refers for valve surgery when needed and supports peri-operative planning
Ophthalmology
- Monitors corneal clouding, refraction and optic nerve health
- Provides glasses and considers corneal transplantation in selected cases
Respiratory and sleep medicine
- Assesses lung function and chest wall restriction
- Diagnoses and treats sleep-disordered breathing (e.g. CPAP/BiPAP)
- Advises on vaccinations, infection prevention and peri-anaesthetic risk
Orthopaedics
- Monitors and treats spinal deformity, hip dysplasia and limb malalignment
- Plans timing of major surgeries (spinal fusion, hip reconstruction, limb realignment)
- Works with physiotherapy and pain teams to optimise function
ENT and audiology
- Manages recurrent ear infections, glue ear and hearing loss
- Performs grommet insertion, adenotonsillectomy and airway procedures
- Provides hearing aids or other devices, linking with school support
ENT and audiology
- Manages recurrent ear infections, glue ear and hearing loss
- Performs grommet insertion, adenotonsillectomy and airway procedures
- Provides hearing aids or other devices, linking with school support
Dentistry / maxillofacial
- Provides preventive care and plans complex dental procedures
- Coordinates dental work with other surgeries where possible to minimise anaesthetic risk
Rehabilitation and therapy (PT / OT / SLT)
- Physiotherapy: mobility, posture, strength and conditioning
- Occupational therapy: hand function, daily activities, equipment and home adaptations
- Speech and language therapy: feeding, speech, language, communication support
Psychology, social work and education
- Psychological support for child and family (anxiety, mood, coping, body image)
- Social work input on benefits, equipment, housing and respite
- Liaison with schools to ensure appropriate educational support and individual plans
Clinics, case conferences and shared plans
In many centres, children with Hurler syndrome are followed in joint clinics or coordinated “MPS clinics” where several specialists see the child on the same day. Elsewhere, care may be spread across different clinics, but brought together through:
- Regular multidisciplinary team (MDT) meetings where results are reviewed and plans agreed
- A named key worker or specialist nurse who acts as the main contact for families
Shared care plans and letters circulated to all involved services (including the GP and local hospital)
Families should be told who is leading the overall plan and who to contact in an emergency.
Clinic
Multiple specialists see patient
MDT meeting
Team reviews and agrees plan
Shared letter / care plan
Sent to all services and family
How often different specialists are involved
Frequency of visits varies with age and clinical status, but a typical pattern might include:
Infancy / early childhood (around diagnosis and HSCT)
- Very frequent visits with metabolic and transplant teams
- Baseline cardiology, respiratory, orthopaedic, ENT and ophthalmology assessments
- Early physiotherapy and OT involvement
Childhood and early school years
- 6–12-monthly metabolic reviews
- Yearly cardiology and respiratory assessments (or more often if problems are present)
- Regular orthopaedic and ENT follow up; planned surgeries as needed
- Ongoing rehab, neuropsychology and school liaison
Adolescence and adulthood
- Transition to adult metabolic, cardiology, respiratory and orthopaedic services
- Focus on pain management, mobility, mental health, education/employment and independence
- Regular surveillance for late effects of HSCT, ERT and residual disease
This can be adapted according to national guidelines and individual circumstances.
Common challenges – and how to reduce them
In complex conditions like Hurler syndrome, care can easily become fragmented. Problems families often report include:
Families as key members of the team
Families and (where appropriate) patients themselves are central to effective multidisciplinary care. Helpful strategies include:
- Keeping a single folder or digital file with key letters, clinic summaries and medication lists
- Using a simple “one-page profile” describing the child’s needs, strengths and communication preferences for new professionals
- Bringing a written question list to appointments and asking for summaries in plain language
- Letting the team know about practical priorities (school attendance, family life, travel, religious or cultural needs)
- Linking with patient support organisations to share experience and advocacy tips
The best plans are built with families, not just for them.
Common challenges – and how to reduce them
In complex conditions like Hurler syndrome, care can easily become fragmented. Problems families often report include:
- Repeating the same story to multiple teams
- Conflicting advice from different specialists
- Missed opportunities to combine procedures under a single anaesthetic
- Delays in acting on imaging or test results
Ways to reduce this:
- Schedule combined clinics where possible
- Use MDT meetings and shared electronic records to align decisions
- Plan bundled procedures (e.g. dental work + ENT surgery + central line insertion) when safe
Explicitly assign responsibility for follow-up actions at the end of each clinic or MDT meeting
A “who does what and when” summary sheet can be very helpful for families and local teams.
Families as key members of the team
Families and (where appropriate) patients themselves are central to effective multidisciplinary care. Helpful strategies include:
•Keeping a single folder or digital file with key letters, clinic summaries and medication lists
•Using a simple “one-page profile” describing the child’s needs, strengths and communication preferences for new professionals
•Bringing a written question list to appointments and asking for summaries in plain language
•Letting the team know about practical priorities (school attendance, family life, travel, religious or cultural needs)
•Linking with patient support organisations to share experience and advocacy tips
The best plans are built with families, not just for them.
Handing over to adult teams
As children with Hurler syndrome get older, they will move from paediatric to adult services. Good transition planning should:
- Start early (often from around 12–13 years)
- Include joint paediatric–adult clinics where possible
- Cover health, education/employment, mental health, and independent living skills
- Ensure adult teams understand the history of HSCT, ERT, surgeries and current issues
- Support young people to take a growing role in managing their own health
Where adult metabolic or MPS services are limited, creative solutions (shared care, telemedicine, regional networks) may be needed; advocacy from clinicians and families can help drive improvements.
Handing over to adult teams
For healthcare professionals: building an effective team
- Treat Hurler syndrome as a single multisystem disease, not as separate cardiac, orthopaedic or ENT problems.
- Anchor care around a metabolic/MPS service with clear links to transplant and organ specialists.
- Hold regular MDT meetings with documented decisions and responsibilities.
- Consider bundled assessments and procedures to reduce anaesthetic exposure and appointment burden.
- Address function, participation and mental health, not just imaging and blood tests.
Plan early for transition to adult care with clear pathways and shared protocols.
For families: making sure the team is joined up
You may find it useful to ask:
- Who is the main person coordinating my/our child’s care?
- How often does the multidisciplinary team meet to discuss patients?
- Can we have a written care plan listing all specialists, how often they review, and what they are watching for?
- How will information be shared with our GP, local hospital and school?
- Who should we call for urgent advice out of hours?
- How will you support transition when my child is older?
If something is not working (too many appointments, conflicting messages), it is always appropriate to say so.
Key points about multidisciplinary care
- Multidisciplinary care is a core part of treatment in Hurler syndrome, alongside HSCT and ERT.
- It brings together metabolic, transplant, organ-specific, rehabilitation and psychological expertise into a single coordinated plan.
- Good coordination reduces gaps, duplication and risk, and supports better day-to-day quality of life.
- Families are essential members of the team and should have a clear point of contact and written care plan.
Thoughtful transition to adult services is vital as more people with Hurler syndrome live into adulthood.
What to read next
Supportive care in Hurler syndrome
Current treatments overview
HSCT, ERT and supportive care at a glance
Haematopoietic stem cell transplant (HSCT)
Process, benefits and risks