Rare bone disease can’t stop speedy Anna

Anna Turner from Waringstown, Northern Ireland, recently celebrated her 8th birthday with family and friends. She lives with a rare condition called hypophosphatasia (HPP).

HPP is one of those hidden conditions and people don’t necessarily see the effect it has. People say to me that Anna’s doing great and she absolutely is - she's our little miracle to even be here. Jenna

How does HPP affect you and the family?

J: I’m a nurse, and before Anna was born, I wanted to go back to work. That just wasn’t feasible with all the appointments we had and given the original life limiting prognosis.

I am now back to work one day a week. Anna’s school is fantastic, and Anna is very good at school, but she has a full-time assistant for her physical needs. The assistant keeps things under control, for example in case other kids run into her.

We very much try and let Anna do things, but she’s at very high risk of fractures.

Anna’s the oldest of three girls, and we’ve all adapted to doing things that are safe for her – we all do them. There are certain things we wouldn’t do because Anna couldn’t do them.

Anna’s had three craniofacial surgeries – she’s very brave. This is not always the case for people with HPP, but the surgeries were needed because her brain was growing faster than her skull. She will probably need more craniofacial surgeries in the future and potentially surgery to other limbs.

We still go to hospitals regularly – two in England and two in Northern Ireland.

What do you want to see happen for people with HPP?

J: More understanding. HPP is one of those hidden conditions and people don’t necessarily see the effect it has. People say to me that Anna’s doing great and she absolutely is - she's our little miracle to even be here. But come the evening time she will be more tired – hasn’t got as much strength and stamina as others.

One time we parked in a car park and used a disabled space. When we went to pay – the woman had trouble believing that there was a disability and came out to check – we need more kindness and compassion. Not all disabilities are immediately visible.

From a medical perspective, we need more awareness of the condition and the complications that go with it. Awareness is growing, but there’s still a lot to be done.

How do you feel about having HPP Anna?

A: OK!

J: Does it ever annoy you?

A: No, I’m faster than my friends at school!

TAGS
  • Rare diseases