What is MEF2C Haploinsufficiency Syndrome?

MEF2C Haploinsufficiency Syndrome (MCHS) - also known as chromosome 5q14.3 deletion syndrome - is an extremely rare genetic disorder caused by a mutation, deletion, or other disruption in the MEF2C gene, which is responsible for creating a protein essential for the development and function of the brain, body, cardiovascular and immune systems. 

People with MCHS often have profound intellectual disability and are non-verbal, which makes it challenging for them to reach developmental milestones and communicate. They often also have problems with motor function, such as low muscle tone and difficulty with coordination, which can make daily activities difficult. They often experience seizures, abnormal or repetitive movements, and behavioural problems. These symptoms can cause stress and anxiety for individuals and their families, requiring ongoing medical and therapeutic interventions.

Those with MCHS are likely to require lifelong care.

There are currently over 350 individuals worldwide known to be diagnosed with MCHS, however this number is likely to increase as genetic testing for the syndrome becomes more accessible.  There is currently no available treatment for the syndrome. 

Families of loved ones with MCHS also face a number of challenges, both following a diagnosis and longer term given their child will need to rely on others indefinitely to manage their complex needs.  Carers will need to provide extra support to help their family member achieve developmental milestones, manage their medical care, and navigate educational and social systems. They may also experience financial stress due to reduced working hours to manage care, medical and therapy appointments.  Additionally, families may experience emotional stress and feelings of isolation - MCHS was first described in 2009 so is not well understood by the wider community, including medical professionals.

Despite these challenges, many families are dedicated to advocating for their child and raising awareness of the disorder. By supporting research and raising awareness of MHCS, the MEF2C Foundation Australia hopes to improve outcomes for all individuals affected by the condition.