Four-year-old's illness is so rare it doesn't have a name

Bryony Henwood’s daughter Caitlyn has 2p16.3 deletion, which means part of the second chromosome has been lost.

Four-year-old Caitlyn is part of the Unique Register, a list for children with super rare conditions, and her family want to make others aware of the struggles children on the register have.

Bryony, 25, from Stamshaw in Portsmouth, said: ‘Caitlyn inherited the 2p16.3 deletion from me.

‘I have never been affected but Caitlyn couldn’t walk until she was 21 months, she’s delayed globally and has learning disabilities.

‘When she was 18-months-old it became apparent she was struggling with her development.

‘She was referred for testing and we were told last January she had this rare chromosome deletion.

‘As a family, we have to give Caitlyn a structured routine and a lot of emotional support because she can melt down over the tiniest thing and some days she can self harm by biting or hitting herself.

‘Caitlyn can be the sweetest child and very affectionate but on other days she will refuse to speak and lash out at you if she doesn’t like something.

‘It can be challenging because she is unpredictable and I have to get through each day one at a time.’

Despite a worldwide database with thousands of people on it, even Unique know of just 70 families with children who have a similar condition.

The rarity of conditions like Caitlyn’s mean doctors and other professionals often have little knowledge or understanding about them.

They are not always able to provide answers to questions and Bryony says this can leave parents feeling lost, confused and very isolated.

To show her support for Unique, Bryony support their awareness week last month.

The organisation helps parents by providing specialist information and support and by putting families in touch with others.

By helping to raise public awareness, Bryony hopes to increase understanding and acceptance among medical professionals and in the wider public.

She added: ‘Unique have helped us begin to understand Caitlyn’s condition and what it means.

‘There’s very little understanding and information out there so we don’t really know what life will be like.

‘That’s difficult to take but Unique offers you support and information which really helps.

‘They have been amazing for us.’