Teenager with extremely rare genetic condition regains sight after 13 years - and is set to find her voice

Until two years ago the 15-year-old was blind. Her brain swelled over the first six days of her life, leaving her trapped in a body she can barely control - communicating only by lowering her arm to her lap to indicate yes, or placing it on her face for no.

Then something remarkable happened. Suddenly Eleanor could see again. Her little brother Lewis, 11, celebrated with a giant hug. Mum Yvonne and dad Chris wept.

Now Lewis wants to give his beloved sister another gift: her own voice. He is fundraising £12,000 for a system she can control with her eyes and allow her to communicate.

For 24 hours starting at 8am on Saturday, Lewis will fall silent, determined to go the distance and with nearly £10,000 already raised.

He told The News: ‘My sister is silent and I wanted to get rid of my voice so she can have hers.

‘I wanted to do it so that my sister can have a voice, as before other people thought she wasn’t intelligent.

‘If we raise the money we can afford to get her a voice so that she can communicate with people.’

Eleanor, a fan of Terry Pratchett and Lord of the Rings audiobooks, has the rare genetic condition Incontinentia pigmenti. She was diagnosed at 14 days due to a telltale rash. It is a neurocutaneous disorder, affecting among other symptoms her skin and nervous system.

Eleanor has an extremely rare mutation of the condition, and is the only child in Britain to have it. When her brain swelled it was crushed by her skull, damaging the part of the brain that relays messages from and to the body.

The St Francis School pupil, who lives in Fareham, was diagnosed with quadriplegic cerebral palsy at 18 months, at the same time her blindness was identified.

Later she was found to have epilepsy - and at the worst would have up to four seizures a day.

From the age of two she learnt how to sign yes or no - with Eleanor moving her left hand to her face or lap to indicate an answer.

At an annual ophthalmology appointment at Queen Alexandra Hospital in December 2017, Eleanor went through her usual eye test.

Then in February she underwent spinal surgery for curvature of the spine stopping a crushing of her stomach and heart.

This was one of 11 sets of surgeries that variously repaired her pelvis, re-aligned her hips and stretched tendons. For months at a time she was confined to her bed recovering - but kept smiling and laughing.

Her family thought she seemed happier due to improvements in the latest surgery.

‘She was a completely different child, she was a very happy child,’ civil engineer Yvonne said. ‘We put all that down to her having her spine stretched - we weren’t looking for another reason.’

With recuperation from the surgery their top priority, it was only in October 2018 at another appointment with Eleanor when Yvonne was told the December 2017 eye test results indicated her daughter could see.

‘We got the senior ophthalmologist in and took her into the examination room, and held up some pictures,’ Yvonne said.

‘Eleanor’s eyes followed them. I said to Eleanor: “can you see?” and she signed yes.’

Yvonne was in tears, medics were overjoyed, and Chris wept when his wife called with the news. Eleanor’s teachers were delighted - and Lewis couldn’t hold back a ‘massive hug’ when he got home from school.

Yvonne added: ‘That’s the point where everything became possible.’

Since being able to see, her family have taught her shapes and have made a book they can use to help her make choices.

If Lewis’s efforts are successful the family will buy the Easy-Gaze system, and it will be installed on her wheelchair allowing her to communicate.

It’s a system similar to that used by Professor Stephen Hawking. Before his death in 2018 the top scientist had sent the family an email sympathising with her situation.

Yvonne, who was instrumental in the construction of The Spinnaker Tower, knows her daughter is full of life - but having the ability to communicate will show others.

She said: ‘By having a voice we also make Eleanor into a person, not for us because she’s been a person for us since she’s been alive but to the outside world.

‘They judge her as not cognitively capable. They assume she’s stupid because she can’t speak.’

During lockdown, with the family shielding for 72 days so far, Eleanor has been learning about the Greeks and the big bang theory.

She added: ‘Eleanor has taught us a lot about ourselves. It’s about not quitting. If Eleanor can not quit and put up with it then who are we to quit on her?

‘She’s been through so many things to get where we are now.

‘Ultimately we need to move as fast forward as possible so Eleanor can have as much of her future as she can.

‘We’re really impatient, even when she makes progress we’re all so keen to make more because we know that she can.’

Lewis’s half-brothers Christopher, 23, and Ethan, 21, both live in Paulsgrove and have been raising the profile of the fundraiser online. They have not seen the family during the pandemic.

Money has been pouring in. Already more than 180 donations have been made in amounts between £5 and £1,000.

Yvonne said: ‘We are awestruck. We’re so incredibly grateful, it’s the toughest possible time to be asking people to donate with businesses going bust, and people losing jobs and houses. It’s really been amazing to see the total grow every day.’

Dad Chris, a retired senior manager, added: ‘My heartfelt thanks go to everybody who in any way have contributed to the success of this campaign.’

Both parents are stunned by the support they have received - and Lewis’s determination to help his sister.

‘I’m unbelievably proud of him,’ Yvonne said. ‘He’s an amazing child.’

Donate at gofundme.com/f/a-voice-for-eleanor

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