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‘Sometimes I wish that this was a disease that you could see’

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When Zoe Jones was pregnant with her youngest son Matthew she couldn’t understand why she felt so unwell.

One moment she felt fine, then the next parts of her body would swell up so much she couldn’t walk.

The then 21-year-old’s condition baffled doctors who diagnosed a range of possible causes – ranging from allergic reactions to pre-eclampsia.

She says: ‘It was all very scary.

‘There were times where I was in the intensive care unit because my airway had swollen.

‘But it can be anything that swells – my hands, one of my breasts, my toe.

‘I begged the doctors to find out what was wrong with me.’

One day Zoe bumped her head and six hours later an enormous lump came up and her face swelled to double its normal size.

Fortunately on this trip to hospital a doctor who had studied hereditary angioedema (HAE) diagnosed her with the disease – a genetic condition affecting one in 50,000 people.

Zoe, now 28, was put on a cocktail of 37 tablets a day to try and keep it under control but much of the medication was trial and error, including antihistamines and steroids.

She says: ‘My whole life changed. They put me on all the tablets but because it was so rare, the GPs didn’t even know anything about it.’

The first signs came when she was a teenager and pregnant with Jordan, now 10, but she put it down to normal pregnancy issues.

Following her second pregnancy severe attacks started happening frequently.

‘They come with a vengeance every other day,’ says Zoe, of Hillmead Gardens, Bedhampton.

‘Last year it was really bad, up to four times a week.’

Zoe’s devoted husband, also Matthew, speaks of his frustration with Zoe’s treatment.

On occasions her stomach can swell within minutes to the size of a nine-month pregnancy.

And paramedics have insisted on taking her to maternity units because she looked as if she was about to give birth – even though she urgently needed to go to intensive care.

Last year the couple’s worst fears were confirmed when seven-year-old Matthew, known as Junior, was also diagnosed with the condition.

He has now been given a wheelchair for when his legs swell up so much that he can’t walk.

The family live with the constant worry that an attack is never far away. And it’s a vicious circle because stress is the main cause.

Junior says: ‘When I have an attack it can happen at any time. It starts with a lump. And my throat swells and I sound like a 70-year-old man.’

Dad Matthew, 37, says: ‘It put quite a strain on our marriage.

‘If me and Zoe argue she will have an attack.’

Attacks can come on at any time, in any place.

Zoe explains. ‘Three weeks ago I was walking home from dropping the boys at school.

‘In the morning I was fine, we were having fun as I walked them in. The next thing I knew I woke up in a lady’s house.

‘She had found me collapsed in the street and took me in and called 999.

‘If she hadn’t found me I don’t know what would have happened.’

Zoe describes HAE as the invisible illness because, if you met her in the street, she would seem perfectly healthy.

‘Matthew can be running around normally, like a healthy child,’ she says.

‘But when you have an attack everything changes.

‘One day you can be fit as anything and the next in hospital. Sometimes I wish it was something you could see.

‘It does get you down, it gets us all down. I have to live with this. Jordan has had to telephone for so many ambulances in his life.

‘We are actually on red alert. When we phone our address is flagged up straight away as urgent.’

Even though the illness is something totally beyond her control, Zoe says she can’t help but feel guilty.

‘Matthew worries about me and he swells.

‘I worry about him and that sets me off. I think about all the hours the boys have spent down the hospital.

‘I used to be the mum, the carer, now it sometimes feels just like they care for me.’

Family holidays are impossible. Matthew’s dream is to take his family riding in the wilderness in America but they can’t be away from hospitals.

He says: ‘There’s no way we can be away from civilisation. An attack can come on for Matthew or Zoe at any moment and we have to be near medical services.

‘It’s been years since we visited my family in Liverpool because we can’t risk a long car journey because of the attacks. We need instant medical attention.’

But there has been a glimmer of hope for the family.

Last November when Matthew was researching the condition on the internet he found a Facebook support group for HAE.

That led to the couple going to a seminar where they met others who recommended a pioneering way to control the illness.

Instead of taking dozens of drugs Zoe takes one daily and injects herself when she has an attack, so she does not always have to go to hospital.

She starts to feel normal again in around 30 minutes.

But even with the injections it can sometimes take up to two days to completely recover from an attack, with Zoe left feeling battered and bruised.

Unfortunately, Junior is too young to be able to have the same treatment but his mum and dad are hopeful that one day he will.

Matthew says, ‘It was such a relief to find the Facebook group, it changed everything.

‘We realised we weren’t alone with this. There are other families going through the same thing.’

Zoe adds: ‘It was so good. We discussed what medication we were on, lots of issues. We got support and I was able to give support to others too.’

Now Zoe is desperate for other people to look out for the signs so their conditions don’t remain undiagnosed as long as hers did.

‘I want to raise awareness,’ she says. ‘Anyone reading this with the symptoms must speak to their doctor.’

Hereditary angioedema is a very rare genetic condition affecting one in 50,000 of the population.

Because it is so rare many GPs will never have seen a case in their career.

HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor (C1 INH).

It is part of a complex cascade of reactions that control the release of fluids from capillaries into the surrounding tissues, thereby causing swelling.

Symptoms can resemble allergic reactions and many other conditions. Because of this many patients get wrongly diagnosed and may have the wrong treatments or even unnecessary operations.

HAE is a genetic condition that causes three to five-day bouts of uncontrolled huge swelling that can affect any part of the body, including the intestines and the face and airway.

Abdominal swellings cause severe pain and vomiting and swelling of the airway can lead to death.

There is no known cure.

If a parent has HAE there is a 50 per cent chance they will pass it on to their child.

It is vital that people who believe they are suffering from the disease get referred to an HAE specialist, such as Dr Hilary Longhurst who treats more than 100 HAE specialists a year.

There is a regular patient meeting with Dr Longhurst and a support group. For more information go to haeuk.org.

An HAE Awareness Day is being held on May 16.

Go to haeday.org.

There is also a Facebook page which can be found by searching for ‘hereditary angioedema’.

 

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