A woman has spoken of her six-year battle to get an official diagnosis of her rare liver disease.
Gill Epton, of Main Street, Whissendine, was diagnosed with lymphangioleiomyomatosis in 2008 after suffering from breathlessness and extreme exhaustion for years.
The 66-year-old was originally told by doctors that her symptoms were caused by a heart problem, but she wasn’t convinced by the diagnosis.
It was only when Gill sought a private CT scan that she was diagnosed with the condition, known as LAM, which affects just over one in a million women.
She has shared her story to mark Rare Disease Day, which takes place tomorrow.
Gill, who is married to Richard, said: “It’s common for patients to wait a long time before they find out what’s wrong because the disease is so rare. Not only are GPs unfamiliar with it, but its symptoms are similar to those of more common lung diseases like asthma.”
The condition causes excessive growth of smooth muscle tissue which progressively erodes lung function.
After her diagnosis Gill was referred to the National Centre for lymphangioleiomyomatosis in Nottingham. She was told she is too old to have a lung transplant but has been given advice to manage her condition.
She said: “I do get tired but I know my limits and try not to feel guilty if I need a rest.
“Some women, less lucky than I, live as little as 18 months after diagnosis. My problems are minor by comparison and I’m certainly not thinking ‘poor old me’.
“There are so few women with the condition it’s difficult to maintain contact with fellow sufferers, which is where LAM Action comes in. It is a fantastically supportive resource and without it patients would be very isolated.”