Sarah and Friends Foundation

Inborn Errors of Metabolism (IEM) are a group of disorders, each resulting from a specific gene defect, causing a clinically significant block in a metabolic pathway. Metabolic disorders can affect any organ system (commonly affecting multiple systems), resulting in a variety of symptoms for each affected person. Symptoms can include: • Neurological symptoms and damage • Encephalopathy and seizures • Feeding Difficulties • Movement Disorders • Temperature Instability • Hearing and Vision Defects • Intellectual Disability • Physical Disability • Toxicity • Hormonal Defects Individually these conditions are rare but collectively their incidence is in the vicinity of 1:800 live births. Metabolic disorders are complicated to manage due to their rarity, uniqueness and variability. Many of these conditions have very little known about them and there are many individuals like Sarah, with suspected metabolic disorders, not yet diagnosed. By their nature, rare Inborn Errors of Metabolism can be frightening for families and quite isolating. Many families are not only struggling with their child’s illness, but also struggling to find financial support for the therapy and equipment needed. Additional support can significantly alter the quality of life for many of these children and their loved ones.