A Rare Fever - FMF - Patient Story
On 26th January, 2020, Australia Day, I called an ambulance to deliver me to Hornsby Hospital emergency. I had a fever of forty degrees Celsius, and severe abdominal pain. The paramedics read my immunologist’s letters on the way. ‘Familial Mediterranean Fever: please start with IV saline ASAP as she’s intolerant to Paracetamol and other anti-inflammatories.’
FMF sufferers can and do succumb to these tremendously high fevers – at 40°C some cells in the brain can be injured.
Even as I asked the triage nurse if she thought I had the new corona virus I felt stupid – there were only two cases in the country at that time and I’d spent most of my days at home hibernating from the heat. My presentation was written up and a doctor came to install the drip. After the second pack, less than eight hours later, my fever normal and belly settled, a kindly neighbour delivered me home.
In 1991, I resigned from work as a volunteer co-ordinator citing my wish to spend more time with my growing children, which was mostly true. It was also true that I spent many hours at medical appointments being investigated for mystifying ailments. A local physician, completely stymied by what my body was manifesting, diagnosed me with chronic fatigue syndrome. I knew people who suffered from that, but my multiple symptoms with dangerously high fevers didn’t match what they were experiencing.
Not long after retiring from work, I had yet another major crisis, similar to one I’d had a decade before in Cape Town where the gastro-enterologist told me I had something inherited but he didn’t know what.
This time, after three days in bed with a high fever and bloody diarrhoea, a friend and her mother found me semi-conscious on my bathroom floor. They carried me to bed and called for medical help.
The paramedics wheeled me through my house out to the van and down the road to Emergency. Medics swarmed and within a few minutes I was spirited into isolation in a no-longer-used building. No Visitors. I had a pustular rash covering my body and blood pouring from bowel, bladder, gums and nose.
‘She’s been to Africa – we’re looking at Green Monkey Fever (Ebola).’ I couldn’t see through their spacesuits, armour against this unknown enemy that could kill me and perhaps them, whether the three figures standing in the doorway to my ward were nurses, doctors or priests. It was like being on a set of Star Wars.
For the first twenty-four hours, a space person came to me with a bed pan, an injection or to change the intravenous bag. The next day, I was shown how to follow the yellow-ribbon to the bathroom.
Tie a yellow ribbon round the old oak tree, I sang in my head, but I was too exhausted to care if anyone still wanted me. I wondered where I was. Then I remembered the Green Monkey conversation. Are they mad? I had been back from Africa for four months.
Back from the toilet, I lay in bed, my back to the door, and reached up for Bruce Chatwin on the window sill. What Am I Doing Here. I had started a notebook, observing how different people wash their hands – who looks in the mirror when doing so, who looks at their fingernails afterwards. . . Absorbed in my notes, I thought I was hallucinating when a soft voice behind me said, ‘What are you doing here?’ I looked around to see an elderly pair in identical grey clothing.
‘And what are you doing here?’ I asked the pair who had slipped past the barriers and appeared beside my bed.
‘We’ve come from the church to see how you are.’
Next thing I knew, a space-suit was yelling at them to get out. ‘Leave now.’
‘Are you feeling better?’ one of them asked.
The space-suit swung itself under the yellow ribbon and stood between them and my bed. ‘Get out now.’
Their intrusion and energetic expulsion raised my energies and I began to recover.
A few days later, the yellow ribbons disappeared, and, after days of nil-by-mouth, a smiling nurse delivered a bird-sized portion of rice and asparagus. When I kept it down, I was allowed hospital-variety fruit salad.
In my two-week hospital stay, I’d had an endoscopy, colonoscopy, upper-bowel studies that confirmed a hiatus hernia and diverticular disease, usually associated with constipation and a low residue diet. Mine is a result of chronic inflammation which also abets the formation of adhesions.
Multiple blood tests every few hours were inconclusive. Two lots of antibiotics from the United States at hundreds of dollars a pop did nothing.
Back at home, all I could manage was a few steps to the bathroom. I did not think I was going to die. Life felt so strong inside me. The first meal I cooked after my second hospital stay was close to the recommended invalid diet – steamed fish and zucchini in white sauce – and it nearly killed me. Back to hospital I went, for the third time with the same rash and bleeding as before. It became clear: no Green Monkey or AIDS. I was suffering from a serious allergy to fish and seafood that set off my lupus-like condition and scared the daylights out of the local-area health-service providers.
The only concrete suggestion from one of the doctors had been during my first admission: ‘We don’t know what’s wrong with you, but perhaps you should stop dyeing your hair.’ A hairdresser came in and cut my hair to the outgrowth. I was not yet forty, but I had very short, almost completely grey hair.
After many years of fortnightly attacks of fever, urinary tract infections, abdominal pain and musculo-skeletal issues, I was forty-five when my GP referred me to an immunologist. Over the years, when I collapsed at home with gut spasms, my GP had injected me with anti-spasmodics, ascribing the pain to stress.
I had had a disabling episode of hip inflammation. On x-ray, aside from osteo-arthritis, nothing irregular was seen, even on follow-up. It took almost three months to settle – inflammation deep in the joint, as I have experienced so often in my neck, shoulder, wrist and ankle. I needed a stick to stabilise my walking, but my hands were too painful to hold it.
One morning in 1998, just 45, I woke with a rash covering my lower back, a hellish headache and a high fever. I rang the immunologist’s secretary and begged for a first appointment with the doctor so that he could see me while I was ill. She offered me six the following morning.
A brisk and efficient doctor, he took a detailed history, including a family history: my paternal grandparents were first cousins who were married in Lebanon prior to migrating to South Africa with their parents and seven siblings in 1907. There were a few in my extended family, including three of my grandparents, who suffered similarly to me, dying suddenly in their fifties of heart attack, stroke and renal failure. In addition, my firstborn died at birth with anencephaly, a neural tube defect, which may have been caused by active inflammation at a critical period of my pregnancy.
He gave me a medication prescription and asked me to return in a fortnight with a record of everything as far as I could remember about these attacks.
The doctor’s letter to my GP suggested a number of serious conditions, but in the absence of a conclusive test, nothing could be confirmed. I changed my GP to someone who had no preconceived ideas about me and could collaborate well with my immunologist.
Eventually, by a process of elimination and trials of various medications, the immunologist gave me a diagnosis of an inherited undulant fever condition with an appropriate treatment, colchicine, to reduce the frequency of attacks. After decades of sickness, I was ready to give up when this specialist ended my wild and risky searches for remedies and cures. I knew I was responsible for being well, but this was possible only up to a point.
I was living in Bangalow in 2002 when a letter arrived from my immunologist in Sydney. His label was confirmed four years after I’d first consulted him. Gene sequencing had established that I expressed the mutations known as S108R and V26A that cause FMF, a lupus-like disease. I had been taking the appropriate medication and was spared more disastrous attacks.
My tears flowed as fears of being crazy and imagining I was ill disappeared.
FMF is inherited when a carrier passes on the faulty gene. ‘The gene responsible for FMF is called MEFV gene and it is involved in regulating inflammation.’[1] An amino-acid protein, pyrin, controls the inflammation process. MEFV mutations reduce pyrin or have a malformed pyrin that can’t function properly. My illness is an actual blood condition, not an auto-immune disease. Usually, inflammation occurs with injury or infection, but sometimes in FMF, no precipitating event can be found.
‘It is most common in people of Mediterranean or Middle Eastern ancestry, but can occur in people of any ethnicity.’[1] Medical literature lists the clinical manifestations, most of which I have experienced: fevers up to 40°C lasting for three days or more, peritonitis – inflammation of the abdominal lining, pleuritis – inflammation of the membrane around the lungs, and arthritis. There are also attacks of muscle pain in the arms and legs. I have had a few episodes of a painful raised red rash, variously over my forehead, or down my leg, ankle and foot, that was diagnosed at the time as shingles; the rash over my throat was recognised by my immunologist as FMF-related. I have not had an enlarged spleen. This inappropriate and uncontrolled inflammation affects smooth lubricated tissues and damages major organs.
These inflammatory reactions can mimic appendicitis or cholecystitis, inflammation of the gall bladder. Serositis, inflammation of the serous lining of the abdomen and chest cavity can’t be specifically diagnosed by radiological or MRI (magnetic resonance imaging) scans. A clue, however, is an elevated CRP or C-Reactive Protein, a reliable inflammatory marker.
My attack of pericarditis settled after weeks of rest; it could have led to constrictive pericarditis, the attempted surgical relief of which ended a cousin’s life in his fifties. Add to these signs, lower back arthritis, as in sacroiliitis, and migratory polyarthritis, which resembles rheumatic fever. The fact that people with FMF may be more prone to rheumatic fever means that there can be a misdiagnosis of either condition in children.[2]
Uncontrolled inflammation can cause vasculitis, suspected in attacks which are accompanied by severe headaches that can last for weeks, as I have regrettably discovered.
Inflammation is a stealthy intruder that visits for a time and then leaves. My shoulder can freeze, my elbow swell, my wrist burn or my leg feel weak for days and then it passes. Having become accustomed to such episodes, I ask my doctors not to follow every symptom unless something lasts longer than usual.
A potentially fatal characteristic of FMF is the development of amyloidosis, the deposit of amyloid protein in certain organs, causing impaired function.
My moderate level of serum amyloid A is apparently consistent with an inflammatory response. It is not related to beta amyloid that causes deposits in the brain associated with Alzheimer’s disease.
Colchicine, the drug of choice to control fevers, has the added advantage of preventing amyloidosis.
I sought a second opinion from an immunologist who saw patients with FMF at Westmead Hospital. She confirmed the diagnosis, but the prognosis for retaining mobility didn’t look good. She had three FMF patients in their fifties with poor lifestyle, were overweight and no longer walked with ease. I was determined not to replicate that. At seventy, arthritis in my feet, as suffered by those three patients, hobbles me as does shortness of breath due to serositis. Gardening and climbing the stairs keep me going without over-doing things.
The specialists suggest that my lifestyle: non-smoking, alcohol free, lifelong yoga practice and vegan Mediterranean diet are keeping me in better shape than I might have been.
My immunologist orders regular blood tests and consultations. Bowel and bladder problems are challenging. I see my gastroenterologist every few months because serositis slows and even stops the normal movement of the organs, including lungs, in the thoracic and abdominal cavities.
In 2006, I had investigations by cystoscopy and IVP (intravenous pyelogram) to find the source of bleeding from my bladder. I had a poor anaesthetic outcome. What we didn’t know at the time, but which has since been documented, is that FMF can impair functioning of the blood vessels in the nose, throat, bowel and bladder and cause bleeding.
In 2010, a neighbour took me to a hospital emergency with a fever of 40°C. I had a headache, racing heart and all of the symptoms of an attack. I asked the doctors to ring my immunologist but they refused. A few hours later, my fever still at 39°C, they sent me home alone in a taxi.
The reality of having grey hair (dementia?), a foreign accent (too different?) and an unusual illness (too complex?) can daunt a rushed, overworked emergency doctor.
My decades-long road to diagnosis was fraught with danger. Alert doctors have averted disaster and insufficiently informed doctors have treated me with inappropriate medications that resulted in severe side effects. What I was experiencing looked like something more familiar to the doctors who were not au fait with the particular manifestations of FMF that require specific treatments.
Writing this, I have to wrestle with my internalised mother’s denial about anything to do with ill health. I have rituals to try to keep myself well. When I am inevitably laid low, I scan the previous days to find the culprit. Ashamed, I blame myself: did I overheat or become too cold, too much rich food or rushing around, visitors bringing their sore throats and tummy bugs, too many phone calls, family upsets and crowds of thoughts. Pain brings me into the moment where there’s no escape. I feel sad thinking of those in my extended family who had mysterious ailments and were disparaged as hypochondriacs.
In Bangalow, northern New South Wales, a mecca for magical thinkers, I had an attack that included encephalitis. I left the front door unlocked for friends to pop in or in case I needed help in a hurry.
I do not choose to be ill, as accused by a visiting neighbour who said to me: ‘How can you allow yourself to become so sick?’ It rankled that she was a mothercraft nurse and should have known better.
‘Get out of my house. Take your magical thinking and weird opinions, leave and don’t come back.’
Such a disappointment returned with a person I’d known for a long time: in some mental mangling, she said to me that I wouldn’t be sick if I ‘thought nice thoughts.’ I wanted to ask her if she realised that our faces are creations of our thoughts and if she’d fixed her thoughts, multiple expensive plastic surgeries could have been avoided.
Trusting my body means that I slow down when early signs such as headache, blurred vision, abdominal spasm or stiff joints appear. That was not always possible when I was running a household providing meals, shopping, laundering, lifts to lessons and more. With many interruptions by sickness, I did my best to give my family confidence in my ability to look after them.
When my inflammatory markers are high, my judgement can be skewed, my memory becomes faulty within a brain fog. Living alone, I try to ensure that my pantry and supply cupboard are well stocked. In the aftermath, I need small quantities of good food.
One day, my immunologist asked me why I thought he had so many writers as patients. My answer, on the spot, was that, for many of us with chronic illness, writing can continue on the sofa, in bed, even in hospital. Later, I realised how much more there is to a life, even a very confined or constrained one. The pace of our slowed-down existence is ideal for paying attention, being present to our inner world. A time to glander, ‘to idle but not to be in a state of idleness,’ as described by American-Lebanese writer, Nassim Nicholas Taleb. Writing creates a bridge from our marginalised lives into the wider world.
Mystified by my random symptoms and increasing un-wellness in recent years, my GP sent me back to the immunologist. He shrugged his shoulders. I should have been protected from further sickness by the drug I swallowed every day.
My senior gastroenterologist, who had another patient with FMF, confirmed: ‘What you report is active FMF.’ He counselled me ‘to regard modern drugs with a great deal of respect.’
I returned to my GP a few times reporting the immunologist’s shoulder shrug. I was galvanised when he said for the third time that he didn’t know what was wrong with me. ‘Have you ever seen a psychiatrist?’ This was disappointing. I felt that he had lost interest in my condition which didn’t follow his textbook and sent him looking for a psychological explanation. I returned to the therapist who helped me over some years with my distressing family issues. A wry laugh passed between us.
My GP finally recommended that I find a new specialist with experience in FMF. This new specialist, who had worked at Westmead Hospital and treated patients like me, recognised the ailments I described as FMF with a co-morbidity. He sent me to a rheumatologist who confirmed hypermobility syndrome which explained the persistent joint aches and gut problems, disabling muscle and vascular spasms that cause migraine and fainting, especially when standing too long in the kitchen.
[1] Arthritis Australia information sheet
Despite all the medical monitoring, and the care I take, one Sunday in January 2018, I woke just after midnight feeling as though I had razor blades in my distended abdomen.
Much worse by six in the morning, I called an ambulance and unlocked the front door. Unfortunately, the outdated letters in my purse named my illness but prescribed no treatment. I was placed in the triage area at emergency. I dry retched and had rigors for more than two hours. ‘Too complex, waiting for a senior doctor,’ the nurse informed me. But I was unaware and becoming increasingly sick.
While waiting, a scan revealed what looked like a swollen inflamed appendix. The doctor told me they would prepare me for surgery. ‘No,’ I told him. ‘I’ve had this many times before.’
He put his shaking head in his hands. ‘It will burst in the night and you’ll get peritonitis.’
I peered at him through my swollen eyelids. ‘I’ll be fine,’ I told him. ‘It’s probably serositis, as diagnosed by the respiratory physician a couple of months ago.’ I felt sorry for him. He’d probably been on duty for hours caring for tens of very sick people, some with injuries. I’d seen a man with a bleeding head wound walk into emergency before toppling over in the hallway – and I was telling him I’d be fine.
I was placed in the surgical ward to have an appendectomy the next morning. I was concerned that the anaesthetic, and if not that, a blade piercing the inflamed serous sack, could cause me serious injury.
Fluid dripping into my arm, I slept soundly.
The surgeon and his registrar woke me. ‘How are you this morning?’
‘Fine, thanks.’
He nodded to his registrar to examine me. She poked and pressed and I didn’t flinch because the acuteness had gone, leaving the usual general tenderness.
‘I’m sorry,’ I told him. ‘No use for your scalpel here.’
My blood marker for inflammation was still high. The usual observations continued. That night, at about ten o’clock, I lost awareness. A nurse said something and disappeared in a hurry. Doctors arrived to push and prod me, addressing me in loud voices but I was barely conscious.
I woke in a private ward the following afternoon. A professor of infectious diseases entered my room ahead of the surgeon and his registrar. My fever was still at 39.8°C.
‘It’s all right. You won’t be having surgery.’ He had seen me before and knew my history, including my multiple allergies, even to paracetamol.
I apologised for inconveniencing the surgeon and emergency doctors.
‘This is a learning curve for the young ones,’ he said into the air.
The surgeon and his registrar were silent.
I thanked them all and apologised again.
The surgeon said, ‘I just want to do the best for my patients.’
I replied, ‘Of that I am certain.’
The professor said that I would stay in the same room, on fluids with antibiotics.
A more experienced nurse visited to ask me how I felt and if I was anxious. I told her that I was used to this, but that my greatest risk was of death by medical misadventure. She told me that the previous night I had been ‘the sickest patient in the hospital. All the day staff have been asking how you are.’
Days later, I went home to take care of myself, eat my own food and recover at my own pace in my garden and sitting room, observing birds and passing dogs. The cause of this attack, like many others, remains unknown. However, that long wait for IV fluids certainly posed a huge danger for me. It took weeks for me to return to normal life.
Best outcome
Australia Day 2020 in emergency finished well for me. My immunologist’s letters were perused and his instructions were followed. A doctor set up a drip and he rang my specialist. ‘Your specialist says that you have looked after yourself very well all these years and you know your condition better than any doctor. I am to follow your instructions and, if you are too unwell to go home tonight, we can medivac you across the city to another hospital where he will look after you.’
Six hours later, after two packs of fluid, my abdomen still tender, at seven on a scale of ten, but my fever down to thirty-six-point-two, I was discharged. A friend drove me home. From my freezer, I defrosted a small bowl of vegetable soup. Well fed, I went to bed.
At last, there is a medical safety net in place, thanks to my GP and immunologist: my name has been flagged at my local hospital, my specialist’s letters are on file and I have an additional medical bracelet prescribing emergency treatment.
In the 1960s, a Greek woman with FMF had more than thirty-five surgeries in an attempt to relieve her pain. Doctors removed appendix, ovaries, uterus, gall bladder, adhesion repair and many more until she died in her sixties. Many with FMF, hoping for symptomatic improvement, continue to have appendectomies which make no difference.
In 1987, a woman reported her FMF diagnosis (possibly by exclusion and favourable response to colchicine) as one of four in Australia.
We know of fewer than three hundred FMF patients, but the reality is there may be closer to two thousand because of diagnosis overseas, lack of reporting, misdiagnosis, shame-driven concealment.
FMF has been around for millennia, morphing down generations for centuries, giving us an immunity to bubonic plague. My version, in addition, has a growing list of sensitivities and allergies to foods and the great drugs of the modern world. After all this time, my condition as an elderly person continues to shame me and humiliate doctors, people with decades of training and experience. Part of the reason for this is that not many sufferers survive into old age, which can exacerbate illness and add to disability, confusing doctors as to what is simply old age or wear and tear in the body and what is actual inflammatory disease.
It is vital to know what underlying conditions I carry for the safe management of my sickness, even if there is no cure, and for my descendants who may battle unknowns in their own medical profiles. A conception of our origins, including our family medical history, is part of our inner constellation for good health and wellbeing.
By now, every cell in my body has been scanned and sampled. Inspired by Barbara Ehrenreich, Atul Gawenda and others, I have decided to leave medical interventions and investigations behind and to seek attention only in an absolute emergency. This approach could save my life from inappropriate treatment, save the health department thousands of dollars, and leave space in the system for someone else.
Cecile Yazbek, January 2025, FMF - A Patient Story
References
- (https://arthritisaustralia.com.au) with links to other agencies such as the Autoinflammatory Alliance.
- PReS (Paediatric Rheumatology European Association) (https://www.pres.eu).
- Rhuematology Republic (rheuma.com.au)
- Rare Voices Australia (rarevoices.org.au).