DVLA Manager To Drive Up Profile Of Rare Disease
By nicola2013 | Friday, October 04, 2013, 14:58
A Somerset woman, battling one of the world's rarest diseases, is giving up work to spend more time raising awareness of the condition.
Alex McDonald at LAM Action Conference
Alex McDonald who has an incurable degenerative disease of the lungs is set to take early retirement from her job with the DVLA in Exeter.
She intends to spend her time working as an 'ambassador' raising awareness of the condition that affects just 200 women in the UK.
Lymphangioleiomyomatosis (known as LAM) is a progressive disorder that affects women only, and causes cysts to form in the lungs.
There is no known cure and there are limited treatment options. For many LAM patients the only chance of life is a risky lung transplant.
"When I was diagnosed I found it really hard to take in. I'd never even heard of LAM," says Alex, 51, an area manager for the DVLA who lives in Wellington.
"All I was offered by way of support were a couple of fact sheets off the internet and an appointment six months later.
"The printouts said the average life expectancy with LAM was two to eight years, and maybe another five years with a lung transplant.
"I was absolutely devastated. I just couldn't get my head around the fact there was no treatment they could offer me."
Alex found support from the charity LAM Action which provides assistance for women with LAM and funds vital research into the disease.
"They were brilliant. They gave me reassurance and all the information I needed and introduced me to other patients.
"The disease is so rare it's not as though there are other local patients in the same situation I could just go and have a chat with."
LAM Action got Alex a referral with the UK's with leading LAM specialist Professor Simon Johnson at the National Centre for LAM in Nottingham.
"Being under Professor Johnson's care has made a huge difference to my life. I'm now well-informed, have regular tests and scans, which really helps psychologically, and I'm able to cope with living with LAM much better."
In common with half of all LAM patients, Alex has a benign renal tumor which can bleed and may have to be removed.
Alex says fortunately her condition currently remains stable and is making sure she leads a healthy lifestyle.
"My lung function is reasonably well preserved at present. Though there is a high risk of lung collapse, infection and respiratory failure.
"I used to go running but that's difficult now, however riding and caring for my horses is quite enough to keep me fit.
"LAM does restrict my ability to do physical activities as my oxygen uptake is reduced so I become tired and struggle to catch my breath at times."
Alex is due to take early retirement from the DVLA in December and is hoping to act as an ambassador for LAM Action and volunteer at her local hospital.
"It's really important all women who develop LAM are made aware of how the charity can help them as soon as possible after their diagnosis.
"Without the crucial support and expert advice of fellow 'Lammies' I don't know how I would have managed."
Note: The twin aims of LAM Action are to advance research into LAM and, just as crucially, to act as an information and support provider. It maintains a comprehensive website www.lamaction.org, hosts the patients' email support group and also provides a lively, informative and entertaining quarterly members' newsletter. The charity has strong links with the medical profession, other LAM organisations and groups around the world. FFI see www.lamaction.org