Ruairi’s story
Like most 28-year-olds Ruairi Corr wants to live an active life, travel independently and enjoy new experiences. Ruairi loves swimming, hiking, mountain climbing and has even been sky diving – all incredible as Ruairi has the rare genetic condition adrenoleukodystrophy (ALD) and is registered blind, hearing impaired and has epilepsy. Despite his complex needs, Ruairi,... Read More
Ivan’s story
Three-year-old Ivan Novak was born with the very rare genetic condition Phelan McDermid syndrome (PMS) which affects development, mobility, speech, digestion and shares similarities with autism. Ivan’s parents Elissa, 32 and Joe, 33, first became concerned when Ivan – their only child - was seven-months-old and was delayed reaching milestones. “It was during the first... Read More
Elijah’s story
Two-year-old Elijah Middleton was born with a rare genetic condition called PTEN hamartoma tumour syndrome (PTEN / PHTS for short). There is no cure or treatment available for this condition, which has wide ranging symptoms and carries an increased risk of certain cancers. Parents Becky, 30 and Tim, 31, from Carmarthenshire, first noticed Elijah wasn’t... Read More
