Phelan McDermid syndrome is a severe neurological disorder caused by deletion of the chromosome 22 gene for which there is currently no cure or treatment.

Phelan McDermid syndrome causes disabling symptoms such as seizures, hypotonia, autism, delayed/absent speech, sleep disturbance, poor eating, incontince and many more.

People with Phelan McDermid syndrome will likely experience lifelong challenges and complications that can significantly impact an individual and their family’s quality of life. Phelan-McDermid syndrome is considered a rare disease. It is estimated that approximately 1 in 10,000 people may have this genetic condition. There are less than 5,000 people living with Phelan McDermid syndrome worldwide and approximately 400 people diagnosed in the UK.

The Phelan-McDermid Syndrome Foundation UK (PMSF UK) is a registered charity in the United Kingdom. PMSF UK is about providing a supportive inclusive community for those who have or know someone with Phelan-McDermid Syndrome (PMS). They provide family days and provide support for additional therapies and equipment. Support is critical when you are caring for someone who has the syndrome.

George (3) who has recently been diagnosed with Phelan McDermid Syndrome, is a happy cheeky boy who loves swimming which helps with his low muscle tone. George has absent speech, hypotonia and development delays. Individuals with Phelan McDermid syndrome can regress and develop new symptoms so it’s unclear what the future holds for George. There is no cure for George and others but Phelan McDermid syndrome foundation can help support with therapy, equipment and making sure he lives his best life.