Care & Support

Practical, everyday support for children and families living with an inherited genetic disorder: what may help, what to prepare for, and who to ask.

This is care education, not a treatment plan

Care & Support explains areas of care that may matter and questions worth asking. It never prescribes treatment, medicines, devices, diets, or exercises, and it does not tell you what your individual child needs. Those decisions belong to your child's care team.

Choose a condition

Care & Support is organised by condition. Choose one to see practical care areas; the system never works out a condition or a care plan for you.

Read the full Lysosomal Storage Disorders page

Care areaAgeForSearch

5 care areas

Caregiver preparationFamily supportGeneral childhood
Coordinating multidisciplinary care
Depending on the specific disorder, several different professionals may be involved in a child’s care.
Lysosomal storage disorders are a broad group; care needs vary widely and there is no single care plan that fits every child.
Why it may matter
Because these disorders vary so much, care needs differ from child to child. For some children, care may involve coordinating between several specialists over time.
Practical considerations
- Not all children need the same professionals; which specialists are involved depends on the individual child and the specific disorder.
- Keeping one organised record of who is involved and their advice helps families coordinate.
What caregivers may prepare for
- Families may find themselves coordinating appointments across more than one specialty.
Questions to ask your care team
- Which specialists are relevant for our child’s specific disorder?
- Who can help us coordinate between different teams?
Professionals who may help
Metabolic specialist، Paediatrician، Genetic counsellor
1 related support item
Medical document folder
Document organiser
Non-medical support item
OrganisationGeneral childhood
What it may be used for: May help keep diagnosis letters, test reports, medicine lists, and appointment notes organised and easy to bring to visits. Any secure system (a folder, envelope, or notebook) can achieve this.
Safety: Keep health documents in a safe, private place. Shared Blood does not store or upload any documents.
Choosing one: No special purchase is needed. Any low-cost folder or notebook already at home is enough.
References:
- Rare Disease Database, Lysosomal Storage Disorders, National Organization for Rare Disorders (NORD)
- Genetic and Rare Diseases Information Center (GARD), U.S. National Center for Advancing Translational Sciences
Development supportDevelopment supportInfancyToddler yearsYoung children
Supporting development and participation
Some children may benefit from support that encourages participation and helps build skills.
Why it may matter
For some children, development support focuses on encouraging participation and adapting activities to the individual child, not on making a child “normal”.
Practical considerations
- Depending on the child, professionals such as a physiotherapist or occupational therapist may suggest adapted play and activities.
- Adapting activities to a child’s abilities supports participation rather than excluding the child.
What caregivers may prepare for
- Care may sometimes involve working alongside developmental professionals and celebrating individual progress.
Questions to ask your care team
- Which activities can our child take part in, and how might we adapt them?
- Would developmental support such as physiotherapy be appropriate?
Professionals who may help
Physiotherapist، Occupational therapist، Neurologist
2 related support items
Supportive seating
Postural / supportive seating
Professional guidance recommended
PositioningInfancyToddler yearsYoung children
What it may be used for: Some children who find sitting difficult may benefit from supportive seating following assessment, which may help with comfort, feeding, or play.
This type of support should be selected with guidance from an appropriate healthcare professional.
Safety: Positioning support should be selected with guidance from an appropriate professional. Never leave a young child unsupervised in specialised seating.
Choosing one: If seating support has been suggested, ask the relevant professional about the type and adjustments suited to the individual child.
References:
Assistive technology, key facts, World Health Organization
Communication support aid
Communication / learning aid
Professional guidance recommended
AccessibilityToddler yearsYoung childrenGeneral childhood
What it may be used for: Some children who find communication difficult may benefit from communication supports, chosen with a relevant professional to match the individual child.
This type of support should be selected with guidance from an appropriate healthcare professional.
Safety: Communication support should be selected with guidance from an appropriate professional so it matches the child’s needs.
Choosing one: Ask the relevant professional which approach suits the individual child before investing in any particular tool.
References:
Assistive technology, key facts, World Health Organization
References:
- Rare Disease Database, Lysosomal Storage Disorders, National Organization for Rare Disorders (NORD)
- Children, developmental reviews and milestones, NHS (United Kingdom)
Movement supportMobility supportYoung childrenGeneral childhood
Mobility and movement support
Depending on the specific disorder, some children may have changing movement needs over time.
Why it may matter
For some children, movement needs may change, and a professional can assess whether any support could help the individual child stay comfortable and included.
Practical considerations
- Any mobility equipment is selected after individual assessment; it is never based on the diagnosis alone.
What caregivers may prepare for
- Care may sometimes involve reviews of movement and mobility as a child grows and needs change.
Questions to ask your care team
- Would an assessment of movement or mobility support be helpful for our child?
Professionals who may help
Physiotherapist، Orthopaedic specialist، Metabolic specialist
2 related support items
Mobility aid
Mobility support equipment
Professional assessment required
MobilityYoung childrenGeneral childhood
What it may be used for: Some children with significant mobility difficulty may benefit from a mobility aid following individual assessment. Needs vary widely and change over time; this is never automatic.
This type of support should be selected with guidance from an appropriate healthcare professional.
Safety: The right equipment, size, and fitting are decided by a qualified professional, not by a disease label. The wrong aid can cause harm.
Choosing one: If a mobility aid has been recommended, ask the relevant professional about the right type, size, and fit for the individual child.
References:
Assistive technology, key facts, World Health Organization
Supportive seating
Postural / supportive seating
Professional guidance recommended
PositioningInfancyToddler yearsYoung children
What it may be used for: Some children who find sitting difficult may benefit from supportive seating following assessment, which may help with comfort, feeding, or play.
This type of support should be selected with guidance from an appropriate healthcare professional.
Safety: Positioning support should be selected with guidance from an appropriate professional. Never leave a young child unsupervised in specialised seating.
Choosing one: If seating support has been suggested, ask the relevant professional about the type and adjustments suited to the individual child.
References:
Assistive technology, key facts, World Health Organization
References:
- Rare Disease Database, Lysosomal Storage Disorders, National Organization for Rare Disorders (NORD)
- Assistive technology, key facts, World Health Organization
Medical routine awarenessMedical routine supportGeneral childhood
Gaucher disease: coordinated follow-up
For this specific disorder, care often involves regular specialist follow-up, depending on the individual child.
This applies to one specific disorder within the group. Shared Blood does not provide enzyme-replacement dosing or any treatment schedule.
Why it may matter
Some children with this specific disorder have regular monitoring arranged by a metabolic specialist. Understanding that follow-up is part of care helps families plan, the medical details are set by the care team.
Practical considerations
- This guidance is specific to one disorder within the group and does not apply to every lysosomal storage disorder.
What caregivers may prepare for
- Care may sometimes involve regular reviews and keeping track of a longer-term follow-up schedule.
Questions to ask your care team
- What does regular follow-up involve for our child, and how often?
Professionals who may help
Metabolic specialist، Paediatrician
1 related support item
Medical document folder
Document organiser
Non-medical support item
OrganisationGeneral childhood
What it may be used for: May help keep diagnosis letters, test reports, medicine lists, and appointment notes organised and easy to bring to visits. Any secure system (a folder, envelope, or notebook) can achieve this.
Safety: Keep health documents in a safe, private place. Shared Blood does not store or upload any documents.
Choosing one: No special purchase is needed. Any low-cost folder or notebook already at home is enough.
References:
- Genetic and Rare Diseases Information Center (GARD), U.S. National Center for Advancing Translational Sciences
- Rare Disease Database, Lysosomal Storage Disorders, National Organization for Rare Disorders (NORD)
Feeding supportCommunication supportInfancyToddler yearsYoung children
Feeding and communication support
Some children may need support with feeding or communication, depending on the specific disorder.
Why it may matter
For some children, feeding or communication may become areas where a professional’s support helps. Needs differ, and any significant feeding difficulty should be assessed.
Practical considerations
- Depending on the child, adapted equipment or communication supports may be suggested by the relevant professional.
What caregivers may prepare for
- Care may sometimes involve working with professionals on feeding, speech, or communication over time.
Questions to ask your care team
- Would support for feeding or communication help our child?
Professionals who may help
Occupational therapist، Dietitian، Paediatrician
2 related support items
Feeding support equipment
Adaptive feeding equipment
Professional guidance recommended
FeedingInfancyToddler yearsYoung children
What it may be used for: Some children with feeding difficulty may benefit from adapted feeding equipment. Significant feeding difficulty should always be assessed by a professional.
This type of support should be selected with guidance from an appropriate healthcare professional.
Safety: This equipment does not replace medical advice about feeding. Choking and feeding difficulties need professional assessment; follow any feeding plan given by the care team.
Choosing one: If feeding equipment has been suggested, ask a dietitian or the care team about suitable options for the individual child.
References:
Nutrition and Cystic Fibrosis, Cystic Fibrosis Foundation
Communication support aid
Communication / learning aid
Professional guidance recommended
AccessibilityToddler yearsYoung childrenGeneral childhood
What it may be used for: Some children who find communication difficult may benefit from communication supports, chosen with a relevant professional to match the individual child.
This type of support should be selected with guidance from an appropriate healthcare professional.
Safety: Communication support should be selected with guidance from an appropriate professional so it matches the child’s needs.
Choosing one: Ask the relevant professional which approach suits the individual child before investing in any particular tool.
References:
Assistive technology, key facts, World Health Organization
References:
- Rare Disease Database, Lysosomal Storage Disorders, National Organization for Rare Disorders (NORD)
- Support for families affected by MPS and related lysosomal diseases, The MPS Society

Preparing for care

Appointment preparation guide

A generic sheet you can print and fill in at home before a visit. Shared Blood does not save anything you write.

This is a blank template. It does not contain any child's name, diagnosis, or personal information; you complete it offline.

1. What has changed since the last appointment (feeding, movement, breathing, energy, or other concerns)?
2. Questions we want to ask the care team
3. Current medicines to mention
4. Recent hospital or clinic visits
5. Things we have observed and want to discuss
6. Next steps or follow-up agreed at the visit

Preparing essential care information

In case of a flood, displacement, or emergency, it can help to keep key information ready to share with responsible medical staff. Keep it somewhere safe; Shared Blood does not store it.

A simple list of current medicines and any known allergies
Copies of essential records, such as the diagnosis and recent summaries
A short note of the child's major care needs and routines
How to explain the diagnosed condition clearly to relief or emergency medical staff

Development supportDevelopment supportInfancyToddler yearsYoung children

Supporting development and participation

Some children may benefit from support that encourages participation and helps build skills.

Why it may matter

For some children, development support focuses on encouraging participation and adapting activities to the individual child, not on making a child “normal”.

Practical considerations

Depending on the child, professionals such as a physiotherapist or occupational therapist may suggest adapted play and activities.
Adapting activities to a child’s abilities supports participation rather than excluding the child.

What caregivers may prepare for

Care may sometimes involve working alongside developmental professionals and celebrating individual progress.

Questions to ask your care team

Which activities can our child take part in, and how might we adapt them?
Would developmental support such as physiotherapy be appropriate?

Professionals who may help

Physiotherapist، Occupational therapist، Neurologist

2 related support items

Supportive seating

Postural / supportive seating

Professional guidance recommended

PositioningInfancyToddler yearsYoung children

What it may be used for: Some children who find sitting difficult may benefit from supportive seating following assessment, which may help with comfort, feeding, or play.

This type of support should be selected with guidance from an appropriate healthcare professional.

Safety: Positioning support should be selected with guidance from an appropriate professional. Never leave a young child unsupervised in specialised seating.

Choosing one: If seating support has been suggested, ask the relevant professional about the type and adjustments suited to the individual child.

References:

Assistive technology, key facts, World Health Organization

Communication support aid

Communication / learning aid

Professional guidance recommended

AccessibilityToddler yearsYoung childrenGeneral childhood

What it may be used for: Some children who find communication difficult may benefit from communication supports, chosen with a relevant professional to match the individual child.

This type of support should be selected with guidance from an appropriate healthcare professional.

Safety: Communication support should be selected with guidance from an appropriate professional so it matches the child’s needs.

Choosing one: Ask the relevant professional which approach suits the individual child before investing in any particular tool.

References:

Assistive technology, key facts, World Health Organization

References:

Rare Disease Database, Lysosomal Storage Disorders, National Organization for Rare Disorders (NORD)
Children, developmental reviews and milestones, NHS (United Kingdom)

Preparing essential care information

In case of a flood, displacement, or emergency, it can help to keep key information ready to share with responsible medical staff. Keep it somewhere safe; Shared Blood does not store it.

A simple list of current medicines and any known allergies

Copies of essential records, such as the diagnosis and recent summaries

A short note of the child's major care needs and routines

How to explain the diagnosed condition clearly to relief or emergency medical staff

Choose a condition

Medical document folder

Supportive seating

Communication support aid

Mobility aid

Supportive seating

Medical document folder

Feeding support equipment

Communication support aid

Appointment preparation guide

Preparing essential care information

Choose a condition

Medical document folder

Supportive seating

Communication support aid

Mobility aid

Supportive seating

Medical document folder

Feeding support equipment

Communication support aid

Appointment preparation guide

Preparing essential care information