Annabelle, 8, is kind and considerate, and has a lot of care and empathy for others. She also has a rare disease, which means she’s in chronic pain, but the public doesn’t understand her disability. And, because her condition is so rare, getting support has been really difficult.

This is her secret life, as told by her mum, Amanda.

Our daughter Annabelle is the kindest and most considerate person we know; she has such care and empathy for others.   She brings us joy and happiness every day of our lives.  She also happens to have a rare disease, which is part of her, not all of her. She really is one in a million. Literally, that’s the odds of having her condition.

Alas, the same cannot be said for the majority of people we encounter every day. School staff asked her if they could ‘catch’ her disease and her peers at school refused to hold her hand at playtime. Depending how she is, she may walk with a stick or use her wheelchair. But people always stare at her, and we’ve been stopped by a total stranger to ask why she uses a wheelchair. It is hard to explain to a child why the ill-informed prejudice we encounter exists.  Next time you want to ask why a person is disabled, try giving us a smile instead of just staring.

annabelle at a table

The Home Services Assessor says ‘the trouble is; she looks so well’. If I had £1 for every time someone said that she didn’t look ill or disabled, I’d be able to convert the house to suit her needs.

Annabelle’s condition is called an ‘Orphan Disease’ because it is so rare there’s no pressure to research what causes it.

There isn’t a cure and the only thing we have to ‘help’ her is ourselves and Ibuprofen, which if you have chronic pain you will know is like fighting a fire with a chopstick.

And she does have chronic pain, and it can make her very tired.

She can be jumping up and down one minute and then be in bed for the next two days due to having half an hour of ‘normal’ play.   There’s nothing we’d love more than to see her jumping on a bouncy castle or a trampoline, but if she did this she would be in agony for days. It’s heart breaking there isn’t a facility with a safe play zone where children with special requirements can go and play without the fear of being knocked down or run into by other children.

We work hard to keep Annabelle happy and comfortable.  Her pain can strike at its worst at any time. I can’t recall the last time I slept for a whole night, I am often on the floor next to her, giving reassurance, plumping up pillows, keeping her safe and comfortable so she can rest.

There are times where pain is so bad she has asked if it would be better if she died.

No one tells you how to deal with that. You are left to stumble along and try and smooth things out as best you can.

It’s been really difficult to get support.

When Annabelle was diagnosed, her condition was written on a compliments slip.  The Consultant told us to go and look it up on Google for more information. But the information on the web is misleading and often does not portray her condition in the way it affects her.  Professionals read this and can be very dismissive about her complaints of pain.  We constantly have to repeat ourselves and explain her condition on every GP or Hospital visit. And there’s a four-hour round trip to get to the hospital.

Annabelle in wheelchair in the forest. A man pushing the wheel chair. Both are smiling.

Early support and care can help give children with rare diseases a better quality of life and hope for their future. But there’s a huge care gap in this country – there’s very little for patients with rare conditions. We have been told that Annabelle would benefit from Hydrotherapy. But, in our area, there’s more chance of getting Hydrotherapy for a dog than you can for her. It seems that because our child’s condition isn’t life threatening, we can’t tap into any local facilities or support groups. We need centres that cater for pain and holistic care for everyone.

There should be continuity in services, not just luck of the draw of where you live. We know there are great new facilities in the UK for Rare Diseases in the Midlands and Scotland; but it seems like London and the South East have yet to catch up.

In the meantime, we will continue to support our daughter, to ensure that she is as happy and unlimited as she can be.

This is the part of our life most people simply do not see

This is the Secret Life of Us