Planning ahead with Hurler syndrome
Hurler syndrome (severe MPS I, MPS I-H) is a lifelong condition. Treatments such as haematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT) and modern supportive care have transformed outcomes, but most children and adults still live with ongoing health needs. Planning ahead is about making thoughtful, flexible plans for the future so that medical care, education, work, finances and support all reflect what matters most to the person and their family.
This page explains what “planning ahead” can mean at different stages of life and offers practical ideas for families, adults and professionals to use together.
What “planning ahead” means
Planning ahead includes:
- Medical planning - regular reviews, written care summaries, emergency information, likely future procedures
- Practical planning - education, work, housing, transport, equipment and support services
- Legal and financial planning - where relevant, planning for decision making, benefits and future security (which varies by country)
- Personal wishes and values - what the child or adult enjoys, hopes for and fears, and how they want decisions to be made
It is not about assuming the worst. It is about reducing uncertainty, avoiding rushed decisions in a crisis and ensuring that care aligns with the person’s values. Living with Hurler syndrome
Short, medium and long term planning
You do not need to plan everything at once. Breaking planning into time frames can make it manageable.
- Upcoming clinic visits and tests
- Planned surgeries or procedures
- School or work changes (new class, exams, job)
- Transitions (starting school, moving to secondary, exams, transition to adult services)
- Anticipated orthopaedic or other major interventions
- Housing needs and equipment as needs change
- Adult health care and long term follow up
- Education, employment and independent living
- Legal and financial arrangements and future security
- Conversations about wishes if health becomes more fragile later in life
A helpful companion page: By age and stage
Medical planning
Key elements of medical planning include:
- Regular specialist follow up - clear schedule for metabolic, cardiology, respiratory, orthopaedic, ENT, eye and other services, and knowing who coordinates care
- Written care summaries - diagnosis, HSCT or ERT history, key surgeries, current medications and allergies, with emergency anaesthetic and airway information highlighted
- Emergency plans - what to do if breathing worsens, chest pain develops or there is a suspected spinal or hip problem, and who to contact in and out of hours
- Looking ahead to likely procedures - possible spinal or hip surgery, valve replacement, airway interventions and what support will be needed around these
Your medical plan
- Keep a one page care summary (diagnosis, treatments, key risks)
- List current medicines, doses, allergies and equipment
- Carry emergency anaesthetic and airway information
- Know who to contact for urgent advice (in hours and out of hours)
Education, work and independence
Planning early does not limit possibilities. It helps to shape goals and identify support to achieve them.
Children and teenagers
- Early conversations about exam adjustments and realistic subject choices
- Planning transitions between schools and from school to college or training
- Thinking about how mobility, hearing, vision or fatigue might affect study paths
Young adults and adults
- Identifying jobs that match interests and energy levels
- Workplace adjustments (flexible hours, accessible buildings, assistive tech, remote work where possible)
- Planning for housing, transport, mobility aids and day to day independence
Legal and financial planning
The details of legal and financial planning differ between countries, so this section outlines general themes only.
Decision making and capacity
- How decisions will be made if the person cannot make some decisions now or in the future
- Options in your country for appointing someone to help with or make health and financial decisions
Financial security
- Eligibility for disability and carer benefits or other financial support
- Savings, insurance and pension planning where appropriate
- Understanding how work can affect benefits and vice versa
Wills and inheritance
- Making or updating wills
- Considering how to provide for a child or adult who may always need some support
Emergency and crisis planning
Alongside long term planning, it helps to be prepared for the unexpected, such as sudden illness or injury, or a crisis affecting the main carer.
- Keep an emergency information sheet accessible at home and on a phone
- Ensure at least one other trusted person knows the basics of care (medications, equipment, key numbers)
- Have a plan for who can step in to help with siblings, pets or the home in a crisis
- Discuss with the team when to go straight to emergency services and when to call the specialist centre first
Related guidance: Hospital stays and procedures
Future treatments, research and registries
Planning ahead can include staying informed about evolving care, while remembering that most experimental treatments remain investigational and participation is always voluntary.
- Ask which registries or long term follow up studies you are part of
- Understand how data is used to improve care for future patients
- Ask which types of research or clinical trials might be relevant now or later
- Identify one clinician who can give balanced information about research opportunities and burden versus potential benefit
Advance care planning and later life
For some children and adults, especially with significant cardiac, respiratory or neurological involvement, there may come a time when the focus shifts more towards comfort and quality of life.
Advance care planning is about:
- Discussing values and priorities (comfort versus invasive treatments, home versus hospital)
- Exploring preferences for future treatment decisions if health deteriorates, including resuscitation decisions where appropriate
- Involving palliative care early to support symptoms, communication and family wellbeing
For families and adults
- Choose one folder or digital space for key letters, reports and plans
- Ask your main specialist: “What should we be thinking about over the next year or two?”
- Make a short emergency summary (diagnosis, treatments, key risks, medications) for your phone or wallet
- List areas where you feel least prepared and bring them to appointments
- Take one small, realistic action each month and build from there
For healthcare professionals
- Ask routinely about future worries and goals, not only current symptoms
- Provide clear written summaries and care plans, including emergency information
- Proactively discuss likely future issues (orthopaedics, respiratory or cardiac progression, transition)
- Signpost to social work, psychology, education support and legal or benefits advice where available
- Frame anticipatory planning as standard, high quality care, not a response to crisis