MEF2C-related disorder (also referred to as MEF2C Haploinsufficiency Syndrome or MCHS) is a severe, rare neurological disorder that affects nearly every aspect of a person’s development. Individuals affected by MEF2C related disorders may never speak, walk, or live independently. They are likely to face seizures, profound autism, severe global developmental delays and impairments, and complex medical needs.
In nearly all cases, MEF2C-related disorders are considered “de novo”, meaning they are the result of random and spontaneous changes at the cellular level at the time of conception, not inherited from parents. Without warning, families are left to manage the life-altering consequences of rare disease: high medical costs, difficulty balancing full-time employment with demanding therapies schedules, complex grief, social isolation, sibling challenges and more. Without any answers, proper support or form of treatment, parents are left to navigate this life-long journey.
Families from the MEF2C community have bravely shared some of their stories:
- Sam, age 2, lives with profound intellectual and physical disabilities. He cannot walk or speak, struggles with aspiration, sleep, abnormal neurological activity and the looming threat of further hospitalization and epilepsy is never far from his parents’ mind.
- Katie, age 5, endures 20–30 seizures every day and has been hospitalized more than 20 times. Despite her family’s tireless care, she still relies on oxygen during illness and receives 95% of her nutrition through a feeding tube.
- Ethan, age 7, has no way to express what hurts or what he needs. His parents have become experts in interpreting his cues, but teachers and aides often miss them. He requires help with every part of daily life.
- Jayden, age 30, suffers from constant, excruciating pain. When it’s unbearable, he harms himself—banging his head against walls or furniture because he has no other way to express distress. His mother provides round-the-clock care and worries constantly about his future once she’s gone.
While MEF2C-related disorders exist on a spectrum, with children experiencing a range of abilities and challenges, one thing is consistent: from the moment we receive our child’s rare-disease diagnosis, our lives are forever changed.
But our children are so much more than their diagnosis. They are strong, beautiful, and define resilience. Their courage fuels our determination to find treatments and a cure. And there is real hope. Advances in genetic medicine mean we finally have the tools to develop therapies that could change everything.
The MEF2C community is ready. Families are eager to participate in clinical trials. Scientists are making real progress. What’s needed now is funding to fuel that momentum.
Your support will help:
- Accelerate therapeutic research targeting the root genetic cause of MEF2C
- Launch clinical trials aimed at improving communication, cognition, mobility, and quality of life
- Give children a chance at comfort, connection, and the ability to flourish
These families have spent years surviving. It’s time to change their future —because these kids are worth fighting for. Donate today. This is the era of possibility—and these children cannot wait.