Anna and her mum Jenna told us about what HPP is and how it affects their family.
Anna: Soft bones!
Jenna: It’s a rare genetic metabolic bone condition which causes defective mineralisation of bones. Calcium can’t be absorbed into bones properly and causes weak, soft bones, builds up in the blood causing hypercalcaemia and makes people vulnerable to fractures.
J: When Anna was born, she was quite floppy, and at first the doctors and nurses thought it was a feeding problem. She had many investigations and trips back and forth to many different doctors. Then one consultant noticed her limbs were short and blood tests showed that Anna’s blood calcium levels were very high, and after further tests she was diagnosed with HPP.
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.
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.
J: Does it ever annoy you?
A: No, I’m faster than my friends at school!
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.