Keratoconus and Down’s syndrome: Rachel’s story

rachelh_croppedRachel Hutchinson, now 29, has worn glasses since the age of 10 with routine optometry check-ups not highlighting any additional eyesight problems.

However, two years ago, Rachel’s father Simon, became concerned following two incidents: one instance whereby Rachel didn’t see Simon despite him walking straight towards her and another, when Simon realised Rachel struggled to read words and letters on a poster on her wall.

Simon went straight to the Down’s Syndrome Association for support, who put him in touch with Dr Maggie Woodhouse, Senior Lecturer at Cardiff University’s School of Optometry & Vision Sciences, who within 30 seconds of seeing Rachel diagnosed her with Keratoconus.

Keratoconus affects as many as 1 in 10 individuals with Down’s syndrome, and those with the condition are less likely to report changes in their vision. If left undiagnosed, the condition has in the most serious instances led to sight loss.

keratoconus-by-madhero88-own-work-via-wikimedia-commonsKeratoconus is a condition in which the cornea, the transparent ‘window’ at the front of the eye, grows abnormally thin and into a cone shape, causing distorted vision. It begins in the teenage years. This condition occurs in the general population (about 1 in a 1,000) but is much more common in young people with Down’s syndrome, and may affect as many as 1 in 10.

You can read more about the condition, diagnosis and treatment options in Stephanie Campbell’s recent blog about the condition.

Without the support of the DSA and Dr Maggie Woodhouse, Rachel’s condition may have been left undiagnosed.

Her previous optician’s appointment nine months previously didn’t flag any symptoms, meaning Rachel’s eyesight problems may have been left unidentified and untreated.

Now Rachel is looked after by a team who are undertaking specific research into Keratoconus in people with Down’s syndrome.

In Rachel’s own words this means my eye is shaped like a rugby ball and I can’t see so well’.

She feels ok about it’ although the specially designed lens she must wear to treat the condition arehard to get in’. However, Rachel is adamant you have to keep trying’ and the lenses are a good idea’.

Although finding the right lenses for Rachel is a slow process, the DSA, Dr Woodhouse, Rachel and Simon are working together to ensure Rachel feels comfortable and happy inserting the lenses herself.

Read a parent member’s story of her daughter’s diagnosis.

Find out more about keratoconus here or download a factsheet version (pdf) to print off and take with you to your local opticians. Click here to download the file.

Help us raise awareness among professionals.

SeeAbilitySeeAbility have a searchable database of optometrists and dispensing opticians who have shared information on their services for people with learning disabilities.

Find out more and access the database here.