Portsmouth mum shares story of son’s rare disease

Meryl Chambers is raising awareness for her son Maddox's rare condition hypophosphatasia as part of HPP Awareness Week
Meryl Chambers is raising awareness for her son Maddox's rare condition hypophosphatasia as part of HPP Awareness Week
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THE mum of a little boy with a rare condition is sharing his story as part of an awareness week.

Meryl Chambers is supporting HPP Awareness Week, which is this week, and is for children with hypophosphatasia – the condition her son Maddox has.

What I discovered devastated me and the family.

Meryl Chambers

The three-year-old was diagnosed with the rare, life-threatening disease just a few days after being born.

Meryl, from Portsmouth, said: ‘I had a normal pregnancy and Maddox was born with no complications. It wasn’t until our first night at home that things became difficult – Maddox was really unsettled, not really eating, and just cried and cried.

‘The next morning he vomited bloody mucus, so we took him straight back to hospital.

‘From there, Maddox’s health went rapidly downhill. The doctors started doing lots of tests, and X-rays showed that his bones were underdeveloped and that he had broken some ribs and his wrists during birth.

‘It then made sense why Maddox was so unsettled – he was in pain.’

After many tests, doctors diagnosed him with hypophosphatasia, a genetic condition which means Maddox lacks an important enzyme to grow bones.

The diagnosis explained why he had rickets, making his legs curved, and why he was a floppy baby.

Meryl added: ‘As soon as we heard the diagnosis I couldn’t help but Google it.

‘What I discovered devastated me and the family. I read that more than 70 per cent of children die before they reach the age of five if they are diagnosed before six months old. Maddox was only 10 days old.

‘The outlook seemed devastating, so as soon as we heard about a trial drug being tested at the Birmingham Children’s Hospital, we didn’t think twice.

‘It sounded simple, but in reality the logistics were very difficult. We lived down south so it meant moving to a hospital hundreds of miles away from family and friends.’

Meryl said when they moved back home, it was difficult explaining what HPP was and the affects it had on Maddox.

When she fell pregnant with her second child Ruby, there were concerns she would also have the disease. But early tests showed she was only a carrier of the gene.

Meryl said: ‘I was still worried when Ruby was born, but as she grew older she’s completely different to how Maddox was as a baby at her age.

‘But despite having HPP Maddox is now a fun-loving little boy.

‘We have to be a bit careful with how we’re handling him but we just try to enjoy him as much possible, taking each day as it comes.’