Tunbridge Wells woman calls for early diagnosis and treatment of rare genetic condition
Stickler's Syndrome is a rare genetic condition that can affect hearing, vision and joints, affecting one in ten thousand
Last updated 20th Apr 2026
Amelia Aves says that more testing for Stickler Syndrome can be "scary" for those affected, but that all symptoms can be treated if caught early enough.
Amelia's journey began with her diagnosis at the age of two following her birth with a cleft palate. This paved the way for a deeper understanding within her family, revealing that her grandmother, father, and sister were also affected by the syndrome.
She told us:
"My dad, my sister, and my grandmother were all diagnosed at the same time. And we (my dad, my sister, and I) all received the preventative surgery that prevents retinal detachment. But unfortunately my grandmother was already blind from Stickler syndrome.
"So our family story is really important for showing why the surgery is so important in preventing retinal detachment, which causes blindness.
"That's why we're wanting to raise awareness of Stickler syndrome and to encourage people to be diagnosed early, because it saves sight especially in children."
Stickler Syndrome is a complex genetic condition that can cause blindness through detachment of the retina in the eye, and includes additional symptoms such as loss of hearing and joint pain. It's also the leading cause of retinal detachment in children, which comes with a high risk of blindness.
When looking for symptoms Aves added:
"It can present with really varied symptoms; including sight loss, hearing loss, problems with joints, issues with speech, eating, and drinking, mobility problems, and mental health problems.
"Not everyone has all or multiple of those symptoms. Some people just have one or two. Which is why it's really difficult to diagnose. It's genetic, which means it can run in families, but it can also also happen to anyone spontaneously."
Now, Aves volunteers for the UK's biggest charity dedicated to tackling the condition, and is calling for a new checklist helps GPs and specialists connect symptoms across the body and refer appropriately.