Home therapy is key to 'normal life' with HAE
Published: 26th May 2012 01:36:52
Unexplained swellings, excruciating pain and days spent vomiting or in bed.
These were the kind of symptoms Rachel Annals from Somerset experienced once or twice a week during her childhood.
It was only after many years of tests, at the age of 15, that her illness was finally given a name - Hereditary Angioedema (HAE).
"We'd never even heard of it," Rachel says.
Few people have, even doctors. HAE is thought to affect one in 50,000 people in the UK, but half of those go undiagnosed.
Dr Hilary Longhurst, a consultant immunologist at Barts and the London NHS Trust and head of the biggest HAE clinic in the country, says it is a much misunderstood condition.
"People don't understand it and how important it is to treat it.
"But treatment can be the difference between intermittent disablement and a normal life."
Rachel has now traced the condition back through her dad's side of the family.
"Dad and Grandma only rarely have attacks, but great-grandma had really serious swellings. Her top lip used to swell up badly."
I get a severe cramping pain, like someone is twisting your stomach. ”
The swellings (or oedema) which characterise HAE occur most notably in the hands, feet, face, throat and abdomen.
They can start at any time from early childhood to later in life, vary in frequency from just a few a year to every few days, and last from three to five days.
Abdominal pain is caused by the bowel swelling and blocking, and can cause sickness, diarrhoea and severe pain.
Throat or facial swellings can be life-threatening if the airways become blocked.
Rachel remembers getting abdominal cramps regularly during her school years and having to take time off to recover.
But the swelling was not always visible and often she suffered in silence.
Now, at the age of 34, she can feel the attacks coming.
"Quite often I get a rash like rings on my chest, or my skin gets itchy at the sight where a swelling later occurs.
"Then I get a severe cramping pain, like someone is twisting your stomach. It starts as rumbly and achy, then becomes really tender to touch," Rachel says.
Sometimes her hand swells up so much that she can't hold a knife and fork.
"The pain of the skin stretching is like a burning pain."
"I also get weird swellings in my knee or hip joint now which makes it difficult to walk."
Only once has she had a severe throat swelling.
"I was 19 and at college. It started with a throat infection. Within three or four hours, I could hardly breathe. It wasn't nice."
HAE has had a huge impact on her life. She was on steroids for 17 years, which helped control the condition, but there were serious side effects.
In 2010, Rachel was prescribed a different kind of therapy which boosts levels of a blood protein called C1 inhibitor, which is lacking in people with the condition.
It is given by an injection into the vein, and stops the progress of an attack.
C1 inhibitors raise the level of a blood protein lacking in people with HAE because of a genetic defect.
People with the condition can be taught to administer the treatment at home.
But that is not available in her local area, so Rachel has to visit her local hospital every time she has an attack to receive the injection.
Dr Longhurst believes that this adds to the stress of people already in pain.
"The vast majority of people can be taught to administer the C1 inhibitor themselves at home, as and when the attacks occur. They can see the warning signs."
HAE experts and patient support groups say this will save the NHS money in the long term - and help people recover more quickly.
Ann Price, from East Sussex, was the first patient in the UK to have the injections in the 1980s.
The HAE gene has passed to all three of her children, and two of her grandchildren.
Yet she says they all have a very good quality of life thanks to a home therapy program.
"My two children developed frequent attacks in their mid-teens. They couldn't have gone to university or travelled the world, or achieved in their careers, if they had untreated HAE."
Ann's oldest granddaughter has had severe attacks every 10 days or so since she was three, but being treated at home means she can also enjoy a full and happy life.
But not everyone has access to the same level of treatment or expertise.
Ann knows of people who have had their appendix taken out and even a kidney removed because doctors misdiagnosed HAE.
Rachel often has to change arrangements at the last minute due to an attack.
"I have to make sure I'm never too far from a hospital.
"Work are flexible and I can make up the time. I don't know how I would cope without that.
"If I could do the treatment myself, I could avoid a lot of pain and distress. It's quite frustrating, really."
Dr Longhurst recalls when HAE was referred to as 'the black cloud', when no treatment existed and when families were afraid of talking about it and confronting the condition.
Science has provided the answers, but she says not everyone can benefit from them.
At 22:58:12 in HeadlinesIsrael and Hamas agree to 12-hour Gaza truce on Saturday brokered by US secretary of state, reports say
At 22:42:23 in ScotlandThe Commonwealth Games is 11 days of non-stop action.
At 22:19:16 in BusinessImagine finding your dream home, and then having your offer accepted. You are ecstatic.
At 22:04:22 in WorldThe Gaza conflict arrived in West Berlin's leafy main boulevard of Kurfuerstendamm on Friday.
At 21:52:36 in WalesNine people have been rescued after getting cut off by an incoming tide at Rhyl.
At 21:20:21 in SportQPR have recalled Brazil goalkeeper Julio Cesar from his loan spell at Major League Soccer side Toronto FC.
At 21:09:33 in HeadlinesSeleka rebels in the Central African Republic have rejected a ceasefire deal and demanded the country be partitioned between Muslims and Christians.
At 21:09:26 in EnglandPolice are investigating the death of a butler who was injured while working at a Tudor mansion in Lincolnshire.
At 21:09:25 in EnglandA lightning strike has caused "major delays" to rail services between London Paddington and Reading.
At 21:09:07 in ScotlandSome have sailed from Ireland, Wales, the Isle of Man and Lerwick, while others have just nipped round the coast from Largs or Inverkip.
Harvard CitationBBC News, 2012. Home therapy is key to 'normal life' with HAE [Online] (Updated 26th May 2012)
Available at: http://www.ukwirednews.com/news/1431286/Home-therapy-is-key-to-normal-life-with-HAE [Accessed 26th Jul 2014]
News In Other Categories
People who are ignoring signs not to walk along a County Antrim coastal path are putting their lives at risk, the mayor of Carrickfergus has warned.
Police are investigating the death of a butler who was injured while working at a Tudor mansion in Lincolnshire.
When this picture of Ed Miliband's battle with a bacon butty hit the news, the Labour team pulled a few faces of their own. So why is the party's leader talking about how he looks?
The Commonwealth Games is 11 days of non-stop action.
Imagine finding your dream home, and then having your offer accepted. You are ecstatic.
With the doors to its brand new £1million training centre officially open, one of the UK's leading apprentice training providers, Bristol based S&B Automotive Academy, is showcasing its world-class facilities by launching a series of foreign student exchanges for the first time in its 41-year history. To get a flavour of what life is like as an apprentice in the UK, the Academy hosted 16 apprentice engineers and bus drivers from the G9 Automotive College in Hamburg, Germany, as part of a Europe-wide vocational training initiative called the ‘Leonardo Programme’ with support from the European Social Fund. In a reciprocal arrangement, S&B will be sending nine apprentices to Germany during February 2012 so that they can get an appreciation of life in the automotive industry on the Continent. A further three German exchange groups are being planned for next year. Designed to assist the development of vocational skills and training across Europe, including work placements for trainees, the Leonardo Programme has a budget of €1.75bn, which is helping to encourage UK organisations to work with their counterparts abroad. In what is expected to be another challenging year for employers in the UK automotive sector, S&B’s Chief Executive, Jon Winter, claims that the exchange initiative will bring many benefits to the Academy and its apprentices: “In a world of global automotive brands, it’s important for our learners to understand the international context of the industry they have chosen to make their career. This new exchange programme will enable apprentices and Academy staff alike to achieve a better understanding of the challenges and opportunities within the automotive arena in Europe. With the Academy’s influence also extending to the USA and Asia, there’s every possibility that this initiative could move further afield in the future.” Continued Winter: “The need for skilled technicians across the world is on the increase and we actively encourage our apprentices to look at broader horizons during their training. Many of them have already learned the phrase ‘Vorsprung durch Gelehrtheit’, quite simply, ‘Advancement through learning.” In the 2010/11 academic year, S&B doubled the number of successful Apprenticeships over the previous year with some 350 apprentices graduating from the Academy. At the same time, achievement levels reached an all-time high with an overall success rate of 85%. For those learners on the Advanced Apprenticeship three-year programme, success rates were even higher, at over 98%. PHOTO CAPTION: As part of their exchange visit, S&B Automotive Academy arranged for the German apprentices to visit Hampshire bus operator, Bluestar, at its Barton Park depot. The students are pictured with S&B’s Andy West (3rd right) and Steve Prewett, Bluestar’s Area Engineering Manager (2nd right). Ends http://www.sandbaa.com