Fourteen-year-old Emily Deacon has a chromosome disorder that is so rare even the specialists don’t have a name for it.
She was born with club feet and epilepsy and, as a teenager, still does not speak and is in a wheelchair.
When she was first diagnosed, her mum, Liz, said she received all the help and information she could need.
But as her daughter grows older, her family, from Beacon Heath, Exeter, feel they are having to fight harder and harder for respite, information and support.
Liz, 34, said: “When she was diagnosed, it was a lot easier. We got a lot of services sent our way. But you lose support as they get older and you have got to fight that bit harder to keep it.
“I don’t mind doing that. I make sure Emily gets everything she needs.”
Liz says life is also harder on a practical level as Emily gets older: “She still wears nappies and there’s nowhere in town to change her. When she was young, we could just go into the baby-changing cubicles.
“We do have a hoist in the house and her bedroom is downstairs. We now have to drive a wheelchair-accessible vehicle.”
Liz said she received a huge amount of support from Emily’s school — Ellen Tinkham School in Pinhoe — and she has just been in contact with an agency which will look after her transition to older care when she is 16. But she still feels there could be more information available for people in her situation.
Liz said: “Services like respite have been reduced as she has got older and her needs have got less — apparently.
“Her annual review is fantastic but, as the name suggests, it is only once a year.”
The Echo’s We Care campaign launched a manifesto last year calling for more help and support for carers.
If you would like to pledge support for the campaign, contact reporter Jacqui Walls on 01392 442259.