Miles was born at 36 weeks, after suffering from preterm premature rupture of membranes (PPROM) at 30 weeks. He had noticeably turned in feet at birth but otherwise seemed well. When he was a few months old, worrying signs started to appear, such as severe bruising on his arms and legs, nose bleeds, and sleeping almost 24 hours a day.
In June 2022, doctors suspected a bleeding disorder and referred him to a geneticist, who spotted the distinctive features of classical Ehlers-Danlos syndrome (cEDS) straight away. Genetic testing took place in December 2022, and results confirmed a diagnosis of cEDS in August 2023, when Miles was 2 years and 11 months old. Miles’s cEDS is the result of a “de novo” mutation, meaning it was spontanous and neither of his parents carry the gene.
Miles’s lower limbs are mainly affected, he wears insoles and is awaiting input from orthopedics. He tires very easily and has extremely fragile skin. He also suffers from bowel, bladder and gut issues. Lack of awareness for cEDS has caused incorrect treatment and left him with unusual scars. More awareness for cEDS and ongoing advocating for Miles is our lifelong goal to ensure he receives the correct care.
