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
Tabby's Story
Meet 8 year old Tabby. Tabby's family have been on a very long journey to obtain the correct diagnosis for her and she has recently been diagnosed via the 100,000 Genomes Project with TANGO2, a very rare genetic metabolic condition that causes episodes of metabolic crisis and carries the risk of cardiac failure. It is... Read More
