Newly Diagnosed Toolkit
Explore therapies, resources and actionable next steps.
The first step after getting a diagnosis is to get informed and get organized. People with MEF2c-related disorders benefit from a wide range of interventions and therapies, and there are many organizations out there that can help connect caregivers with the resources they need.
Get informed: Learn about MEF2C-related disorders
A MEF2C-related disorder is a rare genetic condition caused by mutations in the MEF2C gene, which plays a key role in brain development and nerve cell function.
The severity and specific symptoms can vary widely between individuals, but the core issue lies in the disrupted function of the MEF2C protein, which is crucial for proper brain development and function.
Interventions & Therapies
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Speech & Language Therapy
Speech therapy helps children develop their communication skills, including speech clarity, language comprehension, social communication, and even feeding and swallowing abilities. It is especially beneficial for kids with speech delays, autism, apraxia, or other developmental and neurological conditions affecting communication. Speech-language pathologists use engaging, evidence-based techniques such as play-based learning, articulation exercises, and Augmentative & Alternative Communication (AAC) to support each child
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Occupational Therapy
Occupational therapy (OT) helps children develop the skills they need to participate in daily activities with greater independence and confidence. It focuses on improving fine motor skills, sensory processing, coordination, and self-care abilities such as dressing, eating, and handwriting. Through engaging, play-based activities and targeted exercises, occupational therapists help children strengthen their motor control, regulate their emotions, and improve their ability to complete everyday tasks. By addressing these foundational skills, OT empowers children to thrive in school, at home, and in social settings.
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Physical Therapy
Physical therapy (PT) is a specialized intervention that helps children develop, restore, and improve their movement, strength, and overall physical function. It is especially beneficial for kids with developmental delays, genetic disorders, neurological conditions, and musculoskeletal challenges. Through targeted exercises, stretching, and hands-on techniques, physical therapists work to enhance mobility, balance, coordination, and endurance. PT can also help prevent complications related to muscle weakness or joint stiffness, promoting greater independence in daily activities. By fostering movement and strength, physical therapy empowers children to reach their fullest potential and engage more actively in their environment.
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Applied Behavior Analysis (ABA)
Applied Behavior Analysis (ABA) is a scientifically proven therapy that focuses on understanding and improving behaviors by using principles of learning and reinforcement. It is widely used to help children, particularly those with autism and developmental disorders, develop essential skills such as communication, social interaction, and daily living abilities. ABA therapy breaks down complex skills into smaller, manageable steps, reinforcing positive behaviors while reducing challenging ones. By using data-driven strategies tailored to each child's needs, ABA can foster independence, improve emotional regulation, and enhance overall quality of life.
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Augmentative & Alternative Communication (AAC)
Augmentative & Alternative Communication (AAC) refers to a range of tools and strategies designed to support individuals who have difficulty with spoken language, including nonverbal and minimally verbal children. AAC includes low-tech options like picture exchange systems and communication boards, as well as high-tech solutions such as speech-generating devices and apps. By providing alternative ways to express thoughts, needs, and emotions, AAC empowers children to engage more fully in social interactions, reduce frustration, and develop language skills. Research shows that AAC not only enhances communication but can also support verbal speech development, giving children a voice and greater independence in their daily lives.
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Dynamic Movement Intervention
Dynamic Movement Intervention (DMI) is a therapy approach designed to help children with motor delays and neurological disorders develop strength, coordination, and functional movement patterns. DMI uses specific exercises and weight-bearing activities to stimulate the nervous system and promote neuroplasticity, encouraging the brain and body to work together more efficiently. By challenging a child's balance, posture, and motor control in a structured yet dynamic way, DMI helps improve gross and fine motor skills, leading to greater mobility and independence. This therapy may be helpful for children with conditions such as cerebral palsy, genetic syndromes, and developmental delays, providing them with opportunities to achieve new movement milestones.
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Music Therapy
Music therapy is a therapeutic approach that uses music to support children's cognitive, emotional, social, and physical development. Through singing, instrument play, movement, and rhythm-based activities, music therapy helps improve communication, motor skills, emotional regulation, and social engagement. Because music naturally engages multiple areas of the brain, it can enhance learning, memory, and emotional expression in a fun and motivating way. By creating a safe and interactive environment, music therapy empowers children to build confidence, connect with others, and develop essential life skills.
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Equine Therapy / Hippotherapy
Equine therapy, also known as hippotherapy, is a therapeutic approach that uses horseback riding to support physical, emotional, and cognitive development in children with disabilities. The rhythmic movement of the horse mimics the natural motion of walking, helping to improve balance, coordination, core strength, and posture. Beyond physical benefits, interacting with horses fosters emotional regulation, social skills, and confidence. The unique bond between a child and a horse creates a motivating and calming environment, making therapy both effective and enjoyable.
MEF2C Advocacy Groups & Organizations
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MEF2C Foundation Australia
This foundation was started by a group of Brisbane-based parents and aims to be the first port-of-call for parents and carers of newly diagnosed loved ones, and to help with first steps in what is an overwhelming and difficult time.
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MEF2C Hilfsorganization e.V. (Germany)
Die Mission der MEF2C Hilfsorganisation besteht darin, entscheidend zur Entwicklung wirksamer Therapien für das MEF2C Haploinsuffizienz Syndrom (MCHS) beizutragen und betroffene Familien gezielt zu unterstützen.
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Asociacion MEF2C (Spain)
La Asociación “Síndrome de Microdeleción 5q14.3-MEF2C” ha sido fundada por familiares de niños/as afectados/as por esta enfermedad rara con el propósito de recaudar fondos para su investigación y futuro tratamiento.
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MEF2C Foundation (U.K.)
The MEF2C Foundation is partnering with scientists to accelerate groundbreaking research with the aim being to develop a treatment for those with MEF2C associated conditions, whilst providing information and support for our families along the way.
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Rare Bird (U.S.)
This organization aims to create the first-ever globally approved drug to tackle MEF2C deficiency.
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U.S. MEF2C Foundation
This organization aims to accelerate research and development to find treatments and a cure for individuals with MEF2C-related disorders caused by pathogenic mutations on the MEF2C gene. They connect families with information and support that will hopefully enhance their care, and create opportunities for collaboration within the scientific community
Helpful Links
Billy Footwear
Purchase a pair of shoes from Billy Footwear through the link below, and 10% of your total will be donated to the MEF2C Family Foundation.