Overview

Peroxisomal disorders are a group of rare genetic conditions that affect how the body’s cells function. Peroxisomes are small structures within cells that help break down certain fats and remove harmful substances. When peroxisomes are missing or do not work as expected, multiple systems in the body can be affected.

Peroxisomal disorders are typically present from birth, though the severity and progression vary widely. Some individuals experience significant medical and developmental challenges early in life, while others may have milder or later-onset symptoms.

These conditions do not define intelligence, personality, or worth. Each individual has unique strengths alongside support needs.

How Peroxisomal Disorders May Present

Peroxisomal disorders can appear differently from person to person and may include:

• Differences in development or learning

• Low muscle tone, movement challenges, or coordination differences

• Vision or hearing impairments

• Feeding, digestion, or growth challenges

• Neurological involvement, including sensory or seizure-related differences

• Fatigue or limited stamina

Not all individuals will experience the same symptoms, and needs may change over time.

Common Experiences

Individuals and families navigating peroxisomal disorders may experience:

• Frequent medical appointments or therapies

• Fatigue related to physical or sensory demands

• Communication or mobility access needs

• Being misunderstood due to the rarity of the condition

• Emotional impacts related to uncertainty or changing care needs

Consistency, patience, and informed support can make a meaningful difference.

Support Looks Different for Everyone

Support for peroxisomal disorders is individualized and often multidisciplinary, focusing on comfort, access, and quality of life. Support may include:

• Physical, occupational, or speech therapies

• Medical and nutritional supports

• Assistive or adaptive equipment

• Sensory-aware environments

• Flexible routines that honor energy levels and limits

Support should center on dignity, respect, and the individual’s lived experience.

For Families & Caregivers

Families and caregivers often take on complex care-coordination roles while also navigating emotional and logistical challenges. Learning to balance advocacy with rest, flexibility, and connection is essential.

No family walks this pathway the same way — support should adapt as needs evolve.

How Infinity Pathways Supports Peroxisomal Disorders

Infinity Pathways creates tools and resources that help individuals and caregivers share important information, preferences, and needs across environments.

Our resources are designed to support clarity, understanding, and patience — especially when needs are complex or not immediately visible.

A Note on Language

Language preferences vary. Some individuals and families prefer person-first language, while others identify differently. At Infinity Pathways, we respect personal choice and center language that honors lived experience.