Table 4 Emotional and psychosocial challenges during the patient journey

Birth to toddler

Particularly challenging period for caregivers

Searching for answers is overwhelming and stressful

Many struggle with discussing with friends and family

Concerns about having other children

Frustration with lack of treatment options

Constant worry and uncertainty

Elementary school

Patients face constant staring, questions, assumptions of disability

Patients may experience frustration with limitations on activities and clothes/shoes

For more severe cases, caregivers may need to cope with realization that patient’s condition will not improve significantly

Puberty/teenager

Patients struggle with peer acceptance

Some patients struggle with mental health and anxiety (despite strong support systems)

Caregivers are concerned about patient well-being at this difficult stage of life

Patients may experience anger and self-consciousness; less willing to discuss condition

For some patients, difficulty finding trendy clothing due to larger extremities

Caregivers have concern and uncertainty about behavior issues (when applicable)

Adulthood

Patients have challenges finding new doctors and constantly explaining condition

For patients, the planning needed to manage care can be exhausting

Patients and caregivers are excited about independence but concerned about health issues

Stress for caregiver if patient requires constant care into adulthood (contingency planning, etc.)

Depending on severity and challenges they face, independent patients without strong support systems may struggle