The butterfly effect
Published 19/03/2013 | 05:00
Affecting mainly healthy young women and often characterised by a butterfly-shaped rash on the face, lupus can be a debilitating and upsetting chronic disease, as Penny Gray found out two years ago
LIVING LIFE TO THE FULL: Thanks to a treatment plan for their lupus, both Ciara Roper (above) and Penny Gray (left) are now finally able to get back to living full and normal lives. Inset main, Toni Braxton suffers from lupus while Lady Gaga says she has the early markers of the disorder
Aching joints, chronic fatigue, butterfly-shaped facial rash, hair loss, mouth ulcers, organ damage . . . Just a few of the symptoms that could point to an autoimmune disorder called lupus.
Still relatively rare in Ireland (an estimated 1,200 to 1,400 Irish people are treated for the chronic disease), it's often referred to as a women's disease, as it affects approximately nine times as many women as men. It's also most common among relatively healthy women of child-bearing age, between 15 and 40.
I most certainly fell into this bracket when I first started showing symptoms a few weeks after the birth of my first baby. I woke up one morning with what appeared to be a stiff shoulder, but this stiffness spread rapidly through my body and by the following evening, I needed help to walk the three steps down into my kitchen.
When my husband had to help me stand up from the toilet, we knew there was something really wrong. Before this, I was extremely healthy and fit, and rarely had cause to even visit the doctor.
Luckily my GP took my pain very seriously and ordered a series of blood tests. These revealed that I had the markers for a connective tissue disorder, as well as high levels of inflammation, and I was referred on to a rheumatologist, which is where I started learning about an exotic-sounding disease called lupus.
Lupus can be divided into two forms: Discoid Lupus Erythematosus, which affects the skin and is characterised by a butterfly-shaped rash on the face (the marks on singer Seal's face are due to scarring from Discoid LE), and Systematic Lupus Erythematosus (SLE), which is internal and can affect virtually any organ in the body.
Patients can have one or both forms, with SLE considered the more serious. The severity of symptoms can differ from person to person, with some having only mild symptoms and others experiencing frequent flares that can cause severe complications with the vital organs.
"Put simply, lupus is a chronic autoimmune disease," says Dr Suzanne Donnelly, consultant rheumatologist at the Mater Misericordiae University Hospital, Dublin, and director of clinical education, School of Medicine and Medical Sciences, University College Dublin.
"Almost any tissue in the body can be its target, and this is the important distinguishing feature of lupus from other autoimmune diseases in which maybe only one organ can be the target. The common organs it can affects are the skin, the joints, the lungs, the brain and the kidneys."
Early diagnosis and correct treatment is vital for every sufferer, especially if the organs are under attack. Thirty-year-old Ciara Roper began having symptoms during her Leaving Certificate year in school, and it's taken the best part of a decade to get her symptoms under control.
"I started having symptoms when I was 17 but was not diagnosed with lupus until I was 18," she says. "I had flu-like symptoms at Christmas and was put on an antibiotic, but was then admitted to Sligo General Hospital where a blood test revealed that my haemoglobin level was at two.
"When I was discharged and they reduced my steroids, I got even sicker with weakness and dizzy spells, as my haemoglobin levels kept dropping, so I was in and out of the local hospital.
"They decided then to send me to St James's, where I was diagnosed with anaemia; it was only when my fingers started swelling, and I was up for a monthly checkup that they did a blood test and diagnosed me with lupus."
This diagnosis came out of the blue for Ciara, who, like me, was a healthy, active, young woman up until then.
"The first thing I asked was, could I still play camogie? I couldn't believe it, I was so healthy and the sickness came on so suddenly."
Ciara's case points to the difficulty in diagnosing lupus. "Lupus can be quite difficult to diagnose, even when it's in the fullness of the disease," explains Dr Donnelly.
"Because it's relatively rare, it can be difficult for a GP to spot, and if it's affecting just one part of the body, it can be difficult to relate it to lupus.
There is also undoubtedly a period before the disease becomes noticeable, when the patient is still having symptoms such as a few mouth ulcers or feeling tired all the time."
Rheumatologists use a combination of clinical features, symptoms and blood tests to come to a diagnosis, and these, explains Dr Donnelly, are being refined at present. But early diagnosis and treatment is essential to help contain the disease and to reassure the patient.
"The majority of our patients are young, healthy females, and they might need reassurance about what's wrong with them. Some patients cry when they are diagnosed, not because they are upset at the news, but because they are relieved that they know what is wrong when they haven't been able to pinpoint why they are so tired before then.
"Fatigue – especially when it's accompanied by aching, sore joints – is one of the most debilitating symptoms of lupus, especially when you consider that lupus most commonly affects young, healthy women who generally lead, or want to lead, busy lives with jobs and families, but it's also the hardest symptom to measure."
Ciara Roper feels that the lack of knowledge about the disease certainly contributed to the complications she has suffered with lupus, which included clots on the lungs and the brain, shingles, and meningitis.
"About two years ago, I had a very bad spell, I got septicemia in my legs and had to get skin grafts. I spent six months in Beaumont and two months in rehab to learn to walk again. However, thankfully during that time, the doctors changed my medication and finally the lupus was brought under control."
It has been a long, hard road for Ciara, who essentially lost her twenties to lupus, but finally she is at a point where she can imagine leading a normal life.
"People don't know how bad it is until I sit down and tell them my story," she says. "The thing about lupus is that you don't look sick a lot of the time. But I'm now only up in Beaumont every three months, I feel like a normal person again!"
The role of hormones
A quick look at the support pages of Lupus Group Ireland reveals that Ciara and I are only two of a large group of young, healthy-looking women with this "hidden" disease. So why is lupus attacking otherwise healthy women?
"People are definitely born with some sort of genetic pattern that makes them more prone to lupus," explains Dr Donnelly. "There is then some sort of event that could trigger this off, like an infection or hormones. The question of why it affects more women than men, and the role that hormones could play, warrants more attention".
"Lupus is unusual in that pregnancy and post-pregnancy can trigger a flare, whereas most other autoimmune diseases calm down during pregnancy, and it's not that uncommon that pregnancy and post-pregnancy can trigger lupus."
Lady Gaga recently revealed that she has the markers for lupus, but does not suffer the symptoms, while singer Toni Braxton was recently hospitalised with lupus complications and has revealed that the disease was the cause of death for her uncle at only 19 years of age. And Lucy Vodden, the inspiration for The Beatles' song, 'Lucy in the Sky with Diamonds', died from complications related to lupus.
Thankfully diagnosis and treatment of lupus has improved, and once the disease is under control, patients can live a relatively normal life. However, there is no cure at present, and Dr Donnelly explains that the nature of the disease means it's vital for patients to be constantly monitored by their rheumatologists.
"Everyone is different and you need to be very vigilant. You need to be seeing your rheumatologist on a very regular basis, determined by how your rheumatologist thinks you're doing. So if you're having a good spell, your rheumatologist might only want to see you every six to eight months, while other times it could be every six weeks."
The good news is that research is ongoing into lupus, and a number of treatments have been developed specifically for lupus, most of which are in clinical trial.
One of these treatments, belimumab, has been approved for use, but has yet to arrive in the UK or Ireland.
As for me, I consider myself one of the lucky ones. While steroids treated my first symptoms successfully, I suffered a number of flares until I was put on Plaquenil, an anti-malarial drug that is also a common treatment for lupus.
Thankfully I responded well to Plaquenil and while I still suffer from flares, the severity has decreased.
It's taken two years and another pregnancy to make me realise that good health really is everything in life, and I now know to keep myself as well as possible – and that means resting if I experience a flare, and keeping myself away from infection as much as possible.
Like Ciara, I have found that support, both from family and from fellow sufferers, is vital.
"I thought I was the only one in the world with this thing until I joined Lupus Group Ireland, because nobody around my area knew anybody (with lupus) or heard of it," says Ciara.
"I find the support great – just being able to go on to their Facebook page and reading of people who have the same things as me, being able to ask questions and even advise others at times."
If you have any questions, contact Lupus Group Ireland on www.lupus.ie.