Jenny Agutter: 'Cystic fibrosis is in my family'
Published: 25th Jun 2010 09:02:15
Jenny Agutter carries a faulty hereditary gene no one in her family ever knew about.
It was only after her niece Rachel was diagnosed with cystic fibrosis that she discovered she carried the mutated gene which can cause the disease.
"The first I knew about cystic fibrosis was when my brother rang having discovered that his daughter, his first child, had CF," she says.
"When she was born he was absolutely delighted, they were both over the moon. And then they went through three or four months of seeing her struggle to survive."
I would love the possibility that people would live without this life threat
Survive she did. Indeed, her aunt describes her as an energetic party-goer.
"The median age to which people lived at that time was nine years. Now they talk about the median age as being 30.
"My niece is now 31. She has to work hard on her health, but she is terrific."
That does not mean that life has been simple.
"My niece has been in and out of hospital but I think what the most scary time is when suddenly a CF sufferer does actually grow up and is suddenly in charge of their own life."
A bout of illness before Rachel started university threatened to derail her plans, but she pushed on through and now works as a photo researcher for a magazine, "a job she loves".
Jenny decided to have herself tested for CF when she became pregnant with her son 20 years ago.
The test revealed that, like her brother she was also a carrier of a faulty version of the cystic fibrosis transmembrane conductance regulator gene (CFTR), which causes CF.
But a test of her husband revealed he didn't carry the mutated gene, which meant their children would not be at risk.
"It takes two people with the one single gene to create this problem with CF, so my brother is a carrier and his wife is a carrier, and it turns out I'm also a carrier."
The discovery has also left her wondering whether both her parents were carriers. The fact they lost two children soon after birth with complications resembling those associated with CF, makes her think that the babies probably did have the disease.
Jenny is now actively engaged in her work as a a patron and trustee of the Cystic Fibrosis Trust. She is optimistic for the prospects for sufferers, buoyed not least by the impact better treatment and medication has had on the number of years those with CF can now expect to live.
But she believes much more can still be done, and is hoping gene therapy could bring a breakthrough.
Source: Cystic Fibrosis Trust
"The very exciting thing right now is that they are looking at changing the make up of the lung with gene therapy," she says.
"Most people who who have CF die with lung disease - about 90%. So if you can keep the lung healthy you can basically create an ordinary life for the CF sufferer."
The ultimate aim, she says, must be a full life without fear.
"[Rachel] lives day to day as does anyone with CF. They don't know what is going to happen.
"If they get ill it can be a virus that will just kill them and that can happen at any time, and that is very difficult for any family to live with."
"I would love the possibility that people would live without this life threat. It makes a big difference to the way you live."
At 05:28:48 in England
At 04:37:25 in EnglandA man impaled in the neck by an industrial drill in a "freak accident" has been taken to hospital.
At 04:26:59 in Health
At 04:21:05 in HeadlinesUS President Barack Obama is meeting Japanese Prime Minister Shinzo Abe for talks on regional security and trade, on the first full day of his Asia tour.
At 04:02:52 in HeadlinesThe UN Secretary General has accused all parties in Syria's civil war of "flagrant violations" of international law over the delivery of aid.
At 04:00:21 in HeadlinesCanada says it will phase out the type of rail tankers involved in a deadly train derailment last July.
At 03:49:53 in HeadlinesThe oldest former player with Major League Baseball, Conrado "Connie" Marrero, has died in at home in Havana at the age of 102.
At 03:28:13 in WorldIndians are voting in the sixth phase of a marathon general election in which the governing Congress party is fighting the main opposition BJP.
At 03:13:22 in Scotland
At 03:06:05 in ScotlandWhen Nicola Sturgeon joined the SNP, pursuing a career in politics was not her agenda.
Harvard CitationBBC News, 2010. Jenny Agutter: 'Cystic fibrosis is in my family' [Online] (Updated 25th Jun 2010)
Available at: http://www.ukwirednews.com/news/70211/Jenny-Agutter-Cystic-fibrosis-is-in-my-family [Accessed 24th Apr 2014]
News In Other Categories
The Irish education minister has proposed a radical shake-up of the further education sector.
Cult comic character Frank Sidebottom has inspired a film starring Michael Fassbender, while a documentary and biography are also in the works. Four years after his creator Chris Sievey died, why is Frank's legend growing and who was the man behind the mask?
Eighteen-time US Olympic swimming champion Michael Phelps says concerns about weight gain were behind his decision to return to the sport.
Griff Rhys Jones has withdrawn from becoming Cardiff University's new chancellor just two weeks after an embarrassing debacle which saw his appointment halted at the last minute.