This week’s blog features another of our 2016 Student Voice Essay Competition submissions. Jamileh Clifford, a fourth year medical student at Liverpool University, draws upon her mother’s experiences to explore how the impact of a rare disease is much more widespread than its direct symptoms. Within the essay she refers to herself as Emily*.

She would look at the clock and know it was coming. At fifty-four minutes past her head would explode, going into overdrive. The pain would arrive like a great tsunami, a thousand waves in one; and six minutes of excruciating electric stabs to the back of the head would begin. Six minutes of nausea, cold sweats and misery, until quite suddenly, it would stop. Then repeat. Repeat repeat repeat. No one knew if this cycle would ever cease.

For eighteen months she didn’t sleep, going about life in a dazed like manner, detached from the world yet so aware of her physical body and head that was so predictably malicious. She feared those six minutes, living in a state of utter despair.

GPs shook their heads empathetically, nurses would bat a concerned eye, worried about this Professional woman who had become a paranoid, exhausted mess, unable to look after herself, let alone her small daughter whom she was raising single handedly. No one knew what it was.

In 1999, Philippa Barnes* was diagnosed with Chronic Paroxysmal Hemicrania (CPH), a rare headache syndrome that falls into a category known as “Indomethacin responsive headaches”1. At the time of diagnosis, there were only seven other people recorded with it in Britain. Philippa lived in a world of uncertainty and fear; continually contemplating “why me”.

A ‘rare disease’ is defined by the European Union to affect less than “5 in 10,000 of the population”.2 In the UK, a single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK. 2

Philippa was part of a unique handful of patients diagnosed with Chronic Paroxysmal Hemicrania. This essay explores part of two stories; a mother’s angst of living with a rare disease; and her daughter’s perception of the time before diagnosis when the words ‘can’t fix it’ dominated both lives.

THE PAIN

It all started as a niggling on the right side of her head.

Doctors put it down to stress and Philippa carried on as she always had done; a hard working teacher, independent single mother, devoting her life to the upbringing of her small daughter Emily*.

To begin with, she was able to distract herself from the uncomfortable pin pricks stabbing the back of her head. As the weeks went by however, their frequency and intensity increased until it formed an excruciating right sided head pain; throbbing in the temporal region. Her right eye would swell up; her whole body tensing in pain.

During those first few weeks the tortuous attacks would arrive in bouts, randomly throughout the day; lasting five or six minutes before subsiding. The local GP had no idea what it was. Philippa searched desperately, changing Doctors, changing Practices, hoping to find someone who could give her an answer. She feared the worst, thinking it was a brain tumor or some form of chronic neuralgia. No one knew how to help or get rid of the pain. “Can’t fix it” was a phrase repeated again and again by Doctors and Healthcare professionals. Despite being ‘symptomless’ between attacks; maintaining normality was an impossible task. She tried everything. Hundreds of pain killers, various herbal remedies, acupuncture. Nothing worked. She tried to carry on but found herself living in fear of the next strike, unable to concentrate on anything.

Weeks, months, a year went by. The cycles of pain continued. She would look at the clock and know – know it was coming. Fifty-four minutes past the hour followed by six minutes of hell. Relief for the next fifty-four minutes. Until the next cycle would start again. The throbbing, knife like stabs intensified, waking Philippa up at night as well as tormenting her days. She was sleep deprived and anxious. Silent tears would roll down her cheek, sat in that dark bedroom, holding her head, shoulders slumped, wishing it to go away. On the hour, every hour, day and night. The isolation and estrangement was something Philippa had never experienced before. Depression, desolation and anguish would descend upon her like a black fog during those six minutes. It was ‘all in her head’ – and of course it was. Without a diagnosis, colleagues, friends, even family, started to question the legitimacy of her pain. No one believed it was real.

One cold evening in December, Philippa was driving home from work. It was dark outside and the hazy street lights only added to her sleep deprived drowsy state. A loud bang shocked her fatigued body as the car veered to the side of the road. She had fallen asleep at the wheel – exhausted from months of disturbed sleep. These pain cycles resulted in a cascade of cruel consequences; mentally, physically and socially, not only scaring Philippa, but her small daughter as well. That small daughter was me.

A DAUGHTERS ANGUISH

“Mummy’s head hurts” was all she would say, and I would understand. Understand that our playing would stop, the bedtime story would be cut short, and I would be left to my own devices.

During that year of ‘99, a young boy in my class tragically died. It was a story of sadness, his mother suffering from severe depression for many years before life became too much to bear. The teachers in our primary school explained little Tommy’s death to the children quite simply. Tommy’s mommy was said to have had a “poorly head” and their hushed whispers filled the puzzle regarding his disappearance. She had suffocated her two sons before hanging herself.

All I knew was that my mommy had a “poorly head” as well. My four-year-old brain put two and two together and from then on I lived in a state of constant unease, terror stricken and afraid, wondering if I was destined for the same fate as my school friend who had been morosely suffocated by his mother. The corrosive effect and psychological distress that Chronic Paroxysmal Hemicrania had inflicted on this single mother and daughter – me – was hence great.

From that moment on, not only did mum’s life revolve around the “fifty-four minutes past the hour”, so did my own. Mum would look at the clock and brace herself for the pain, forehead burrowing into itself. She was so pre-occupied, never noticing my terror stricken face looking up in anguish beside her. It was only years later that mum found out about the link I had erroneously made in relating her syndrome with what had happened to Tommy’s mom with the “poorly head”. She was mortified when she found out.

THE HOPE

As the millennium drew closer, my mum found a research paper on the internet describing a patient with identical symptoms to herself. She immediately contacted the specialist Neurology Hospital where the paper had been written, in the hope of an answer.

The Neurologists there were world experts and eager to find out about her case, and she was invited to go and meet with a Doctor doing a PHD on the rare disorder of Chronic Paroxysmal Hemicrania.  After exploring mum’s descriptions of her symptoms, she was finally diagnosed with the rare headache syndrome.

Diagnosis meant hope. Treatment. Control. The possibility to get her life back.

The pathophysiology of Chronic Paroxysmal Hemicrania remains unknown3, and the many treatments available for treating the such intense pain associated with the condition do not work. However, the dramatic and swift response to Indomethacin, a Non Steroidal Anti- Inflammatory drug, has become the clinical hallmark of the disorder, and it was this medication mum was administered. Relief at last from an unbearable, unrelenting pain.

In those first few weeks after diagnosis, mum described a strange sense of ‘inner comfort’ and gratitude. The estrangement was still present but the long awaited diagnosis gave her a foundation on which to build her life upon. She could finally explain to family, friends, even healthcare professionals, what she had, and this gave her the self-assurance she needed to carry on with life.

The impact of a rare disease is without doubt so much more than its direct symptoms. The psychological scars inflicted as a result of delayed diagnosis run deep, and patient alienation, isolation and lack of support can push individuals and their families to breaking point.

Rare diseases are seldom recognized by the “everyday physician” and patients labelled with such rare syndromes inevitably face unique obstacles. Unlike heart disease, diabetes and common cancers, which get huge amounts of support and media attention, many rare diseases are largely unknown or poorly understood. As a result, less research is done and often, no treatments exist.4

My mum however, was one of the lucky ones. An effective treatment was available; and the physical pain she had been subjected to for so many months could finally be managed.

Over time, my own scars healed as well. Mum got better and our lives carried on. Growing older widened my perspective on life, and I am so thankful a diagnosis was finally made after such a long time of “not knowing”.

*Note names have been changed

REFERENCES:

1. MHNI website: unique-neurological-conditions/chronic-paroxysmal-hemicrania, 2016

2. Rare Disease UK, Genetic Alliance, 05772999.

3. MedScape Article 1142296

4. How Isolation Impacts Those Suffering With Rare Disease, Koren, 2016. Paper.