The role of rarity and peculiarity in scientific progress

This week’s blog features another of our 2016 Student Voice Essay Competition submissions. Jungwoo Kang, a student at the Barts and London School of Medicine and Dentistry (QMUL), explores how rare diseases lead the way in medical research and clinical innovation.

Gaston Bachelard, a philosopher of science, made a simple premise – “the characteristic of scientific progress is our knowing that we did not know” (1). While there is myriad information that is currently unknown to science, Samuel Arbesman, a computational biologist, suggests the increasing difficulty of novel scientific discovery in recent years (2). As rare diseases by nature have peculiar pathogenic mechanisms which are uncommon, unfamiliar or unknown to the medical community, it is logical that rare disease research promotes medical progress despite the growing complexity in expanding scientific knowledge. Historically, the influence of rare disease on medicine has ranged from improved scientific understanding of physiology and pathophysiology, to paradigm shifts in approaches to treatment and public health. Whether it is the discovery of prion proteins and pathogenesis of migraine, or the development of revolutionary genetically-based therapeutics and advances in epidemic control, it is only fair to conclude that rare diseases greatly impact medical research and clinical innovation.

Rare disease research affects all fields of physiology – from molecular cell biology to wider pathogenic processes. Investigations into the aetiology of Creutzfeldt-Jakob disease (CJD) and similar neurodegenerative diseases, which single-handedly created a body of knowledge on prion proteins, embodies the effect that rare disease research can have on physiological discovery. Building on from prior animal research on scrapie agents, Stanley Prusiner identified the pathological prion protein (PrPSc­) to be the cause of CJD in 1982 (3), and subsequently recognised the normal cellular prion protein (PrPC) in 1985 (4). In CJD, the PrPSc was found to induce misfolding in PrPC, leading multiplication, aggregation, and eventually prion formation – the infectious and pathogenic agent (5). The prion was theorized to cause neurodegeneration through induction of neuronal apoptosis via direct action and microglial activation, which induces oxidative stress and a cytokine response leading to cell death. These misfolding processes are suggested to be pathogenic in both CJD and common neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis (5), demonstrating the wider effects of prion research in neurology. In addition, studies into the function of PrPC has uncovered its role in numerous physiological processes, including protection against apoptosis, synaptic transmission, and neuronal maintenance (6). Thus, it is apparent that rare diseases have enabled medical research progress in the case of CJD, as the novel discovery of prions and their physiological applications have had pertinent impacts in neuroscience and neurology. And considering the influence of Prusiner’s research, it is hardly surprising that he was awarded the 1997 Nobel Prize in Physiology for his contributions to science (3).

Furthermore, studies on rare monogenic forms of disease provide great insight for disease-gene discovery and perspective into the physiology of more common complex genetic disorders. For instance, a substantial body of knowledge about the pathophysiology of migraines, a neurological disorder characterised by severe episodic headaches (7), originates from research into familial hemiplegic migraine (FHM) an uncommon genetically-inherited form of migraine. FHM is an autosomal dominant disorder resulting from a mutation in the gene coding for the calcium channel Cav2.1 (FHM1), Na+/K+-ATPase (FHM2), or Na+ channel Nav1.1 (FHM3) (7). While there are 3 forms of FHM, they share a common pathophysiological pathway in impaired glutaminergic transmission – whether it is via increased activation or decreased inhibition of neurons (7). Not only did this consolidate the importance of glutaminergic activity in migraines (8), but also it delineated the need to explore the ionopathic nature of migraines. Consequent research has associated FHM ion channel mutations with an increased susceptibility to cortical spreading depression, a slowly propagating wave of brain electrical activity hypothesized to be the trigger of migraines (9), while a recent meta-analysis of over 375,000 individuals has also found 5 ion-channel related genes as migraine susceptibility loci (10). Evidently, research into FHM, a rare genetic condition, has both implicated and substantiated the role of ion channel defects in migraine aetiology, which emphasizes the role of rare disease research in understanding pathogenic and genetic mechanisms of their more common counterparts through the discovery of novel physiological processes.

In addition to physiological and pathophysiological discovery, studies on rare diseases also contribute to translational research. The most notable example of these contributions is the creation of genetic therapy, the treatment of disease through the repair of defective genetic material (11). While ideas of gene-based therapies were conceived decades prior, it was only in 1990 that the first successful genetic therapy was administered to a patient with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID), a disorder arising from disturbed T-cell and B-cell development due to a lack functional of ADA. The therapy provided an alternative treatment to bone marrow transplantation, and with more than 75% of patients having no suitable donors (12), it was the only option other than complete isolation and frequent ADA injections. By using a virus to transduce the missing ADA gene into haematopoietic stem cells, the patient temporarily recovered – demonstrating the potential efficacy of gene therapy. In a subsequent phase 1-2 trial, with further developments in genetic technology, such as enabling the genetically-modified haematopoietic stem cells to establish a dominant cell population (13), 8 out of 10 patients required no further ADA replacement injections and had significant reductions in severe infections and number of hospitalisations (14). Utilising these technologies, the lead authors of the trial and GlaxoSmithKline have produced a therapy that was recently approved by the European Medicines Agency (12). However, the application of gene therapy is not isolated to ADA-SCID; early phase clinical trials have successfully treated rare and common disorders including childhood acute lymphoblastic leukaemia (15), HIV (16), sickle cell anaemia and β-thalassaemia (17). Although there are numerous hurdles to overcome in gene therapy, including fine-tuning its mechanisms and preventing detrimental side effects such as oncogenesis and autoimmunity (14), it is evident that there is incredible potential in its therapeutic application for both rare and common disease. With continual advancements in medical application and genetic technology, such as CRISPR, gene therapy has helped in causing the genomic medicine paradigm shift – all of which was made possible due to research impetus arising from the need to cure ADA-SCID and other rare diseases.

When discussing rare diseases, illnesses caused by uncommon infectious pathogens are often forgotten. Yet, outbreaks of rare viruses provide important lessons in public health on both national and international levels. For instance, the 2002-04 Severe Acute Respiratory Syndrome (SARS) epidemic, caused by the SARS coronavirus, delineated the need for international policy reform regarding epidemic response. Initiating in the Guangdong province of China, the SARS virus infected over 8000 patients and killed 774 in 37 countries (18). Whilst the infectivity of the virus cannot be ignored in explaining the spread of the disease, numerous mistakes in disease response and control severely exacerbated the epidemic. Firstly, during the early phases of the outbreak, deliberate misreporting (19), press censorship, and refusal of WHO access by the Chinese government lead to a delayed and inadequate government response (20). Furthermore, nosocomial outbreaks resulted from overcrowding of emergency rooms (21), improper hygiene, and a lack of transmission-based precautions in care systems of both developing and developed countries (22)(23). And although the epidemic came to a halt with strict quarantine and isolation, it emphasized the need to address these errors before a future outbreak of a more contagious and virulent virus. Consequently, the WHO published the International Health Regulations 2005 – a much needed revision of international law which aims to limit and control the spread of an outbreak (24). The resulting systematic approach in disease surveillance and international cooperation was crucial in rapidly mobilising the global response against the 2009 H1N1 flu pandemic as governments were more rapid and transparent in reporting new cases (25). However, with prevailing issues in the public health response, including the incapability of undeveloped countries to implement the new regulations and concerns around human right violations with aggressive quarantining (26), preparation in epidemic and pandemic response must continue to improve – especially considering the modern rise in prevalence of antibiotic-resistant bacteria and emergent viruses. As demonstrated by the acquired and applied knowledge from the SARS outbreak, it is clear that consistent challenges from rare infectious illnesses and retrospective examinations have, and will continue to strengthen the global response in containing disease.

Revisiting Bachelard’s premise, the principle of scientific progress being characterised by new knowledge, is exemplified through scientific and translational research uncovering the unique physiological mechanisms and effects of rare illnesses. From developments on the cellular level in prion discovery from CJD research and significant progress in genetic therapeutics arising from the need to treat ADA-SCID, to innovations in global health resulting from lessons learned from the SARS epidemic, it is clear that rare disease research has a widespread and penetrating impact on all fields of medicine. These effects are bound to multiply from impending technological advancements from the genetic revolution and research promotion through orphan drug policies. With pertinent effects in science and immeasurable benefit to patients, rare disease research must continue for medicine to progress.


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Snowdon with Mummy

This week’s blog is written by Shelley Simmonds, mummy to 4-year-old Fraser who has Duchenne Muscular Dystrophy. Shelley shares her story of climbing Mount Snowdon, carrying her son on her back the whole way, and raising money for the UK charity Harrison’s Fund.

Have you ever climbed a mountain carrying a small boy on your back? Neither had I, until 3rd June 2017 when that’s exactly what I did. Why? Because I am a Mummy and I am desperate. My 4-year-old son has Duchenne Muscular Dystrophy, a fatal genetic condition that will waste away every single muscle in his body until he can no longer survive. My son will die. And I am not prepared to let that happen without a fight, so I pushed myself out of my comfort zone to try and make a difference and change the future.

There are many things in life Fraser can’t do because he has weak muscles which don’t allow him the freedom to walk. He uses a wheelchair full-time, but on that June weekend, I became his legs and carried him all the way to the top of Mount Snowdon in a special carrier on my back. He achieved and experienced something physical that would otherwise not be possible for him — he became a Mountaineer!

A simple picture that Fraser had drawn at nursery of a mountain gave me inspiration for this challenge, and once I had told myself I was going to do this I set to work on the training. Not being particularly fit (or thin!) getting myself moving was a challenge in itself – week by week I walked more and more miles whilst carrying heavier weight packs on my back – Fraser is 2.5 stone and I needed to be prepared! The story started to get out to the local community and soon I was appearing on radio stations and in newspapers – people on the train to work were stopping me to ask me if I was ‘that Snowdon lady’!

I have been working in partnership with a small UK charity called Harrison’s Fund since Fraser’s diagnosis, a charity dedicated to funding research into treatments for children with Duchenne.

I wanted to do this to make a life memory with my son, whilst also raising money to help others, which is always at the forefront of my mind. United in fighting for our children, I believe we can make a difference – seeing the donations rolling in was an amazing boost and our mere little walk up a mountain has raised an incredible £12,000!

The day was an unbelievable experience – the motto is to never work with children or animals and I must admit that I was nervous about how my son would cope being stuck on my back for hours on end! But he was fantastic, he enjoyed every minute of talking to the sheep on the way up and telling Mummy to go faster! I will cherish this day for the rest of my life.

Duchenne can happen to anyone, 1 in every 3,600 male births to be precise. It can happen with no family history, meaning this was just as likely to happen to your son as it was to mine. I have had some amazingly kind words from people telling me that what I have done is inspiring, but my son is the inspiring one in all of this. He has taught me more about life in his 4 short years than I learned in my 33 before having him. If you were a Mummy, you would do the same. It’s just what we do.

Shelley Simmonds

Billericay, Essex

You can find Shelley and Fraser on Facebook here.

If you’d like to show your support for Shelley you can find her fundraising page here.


Meet the team: Dare for Rare Skydive

This week’s blog continues our “Meet the team” blog series, introducing our fundraisers to the Findacure community.

Meet our Dare for Rare Skydiving team!

In August, Findacure will see some of its bravest supporters launching themselves from a plane over 13,000 feet high! In this week’s blog we introduce of few of our team members and hope you will join us in welcoming them to the Findacure community.

Alison Labrey

Can you tell us a bit about yourself?
I live in a lovely village called Dobcross, in Saddleworth, with my three gorgeous boys.  I work part time as  a community nurse and I volunteer on the Dobcross Village Committee.
Why did you decide to take part in a sky dive?
I was talked into it when I was drunk!  When I sobered up, I realised I would have to see it through!
Why did you choose to fundraise for Findacure?
As a nurse, I see the effects of a range of diseases and know how important patient support groups are.  It’s also because I know that rare disease research is relatively underfunded and I want to do my bit.
Have you taken part in any similar events before?
Yes – I did the Findacure Firewalk in February.  My feet have now just about recovered!
What are your other hobbies?
Running and partying!
What’s your favourite film/book/tv show?
Coronation Street, I’m afraid.  I love it!  I would actually marry Tim from Corrie  – he’s hilarious!

You can find Alison’s fundraising page here.

Si Chun Lam

Can you tell us a bit about yourself?
Originally from Hong Kong, I currently lead a small team of economists and social scientists in a intelligence unit at Coventry City Council.
Why did you decide to take part in a sky dive?
I have always wanted to take part in a tandem skydive because it was doing something so exciting and yet completely and utterly out of my comfort zone.
Why did you choose to fundraise for Findacure? 
I got to know about Findacure through a friend (Libbie Read) who works for Findacure. What I’ve come to learn is that Findacure plays an important role in both (i.) collaborating with researchers and industries to developing cures for people facing rare diseases; and (ii.) improving the lives of families facing rare diseases by building communities together.
Have you taken part in any similar events before? 
No, I haven’t taken part in anything similar before – so this is totally different for me – and and I’m both very nervous and excited for it!
What are your other hobbies?
Outside of work I’m passionate about music and travelling will probably be found at a rock concert, festival, or on an aeroplane (but thus far, not yet jumping out of one)!

You can find Si Chun Lam’s fundraising page here.

Odette Read

Can you tell us a bit about yourself?
I live in Lincoln with my wonderful husband, Steve and two of our three fab children.  I work as a specialist teacher, for Lincolnshire County Council and I have just completed my studies with Northampton University to gain an MA in SEND and Inclusion.
Why did you decide to take part in a sky dive?
Because I can’t run!
Why did you choose to fundraise for Findacure? 
I am passionate about the work Findacure does and the patients and families that you support.  Patient voice and increased awareness are so important and you are doing such wonderful work in this area.
Have you taken part in any similar events before? 
I did once do a tandem paraglide over Lake Annecy, which was stunning!  Somehow, I feel leaping from a plane will be a little scarier!  I also took part in the Findacure Firework in February.
What are your other hobbies?
Reading, swimming, theatre, travelling and getting together with friends and family as often as possible.
What’s your favourite film/book/tv show?
I enjoy good quality dramas on TV; Taboo and Happy Valley were just brilliant!  My favourite film is Grease!  I have so many books that I love but if I had to choose one, it would be Anna Karenina.

You can find Odette’s fundraising page here.

So far in 2017…

It’s been mega busy lately at Findacure HQ, so busy in fact that we completely missed the halfway point of 2017! However, as things begin to slow down (who am I kidding?) and the days start to get shorter (winter is coming), Mary Rose has taken some time out to reflect on our achievements so far this year. In this week’s blog, we’ll be doing our very own #throwback to Findacure’s top five moments of 2017. We hope you enjoy the memories!

1.Drug Repurposing for Rare Diseases Scientific Conference

February saw Findacure host its most ambitious conference to date, when over 120 delegates joined us to hear the latest developments in the field of drug repurposing on Rare Disease Day. We had the pleasure of hearing from some of the top experts in the field, as well as the all-important patient story. The day’s atmosphere was friendly and full of hope, with all stakeholders in the community coming together, eager to collaborate and encourage the change that rare disease patients and their families desperately need. The conference also gave us the opportunity to congratulate the winners of our 2016 Student Voice essay competition, recognising the achievements of our top three finalists in front of our engaged audience.

2.Implementing a shiny new workshop format

2017 saw Findacure enter its fourth year of patient empowerment workshops, and we decided to shake things up a bit by introducing a new formula for the day and improve the training we provide. The key feedback we received from our beneficiaries in 2016 was that they wanted more time to network with other rare disease advocates, and the opportunity to take part in group activities and discussions. Well, ask and you shall receive – we implemented both of these elements into our first workshop of the year, “An introduction to Community Fundraising”. All in all, we were able to expand our previous half day event, into a jam-packed full day of exciting learning, including four expert talks on the different areas of community fundraising, lunch (!), a group activity guiding delegates through planning their own fundraising activity, and two dedicated networking sessions. We implemented this again in June for our collaborative “A-Z to Setting up a Patient Group” workshop with Genetic Alliance UK and plan to continue this throughout the year. Both of our previous workshops went really well, and we are so pleased with the feedback we’ve received so far.

3.The Drug Repurposing Open Call

February’s Rare Disease Day also saw the launch of our ‘Rare Repurposing Open Call’. The purpose of the call was to search for existing drug repurposing ideas for rare diseases that lack the resources or funding to run a full clinical trial (if this doesn’t make much sense to you, read up on our drug repurposing project here!). Researchers, clinicians, patient groups and pharma were all welcome to submit their projects. We were blown away by the 30+ proposals we received, and are hugely grateful to everybody who got involved and helped us to promote it. Now we’ve got the hard task of filtering through the submissions and discussing the best way to advance them.

4.Fabulous Findacure Fundraisers

It’s only July and already our fantastic fundraising team have raised over £10,000 for Findacure! We’ve had firewalkers, half marathoners, full(!) marathoners, cyclists, mountain bikers, mountain climbers and cake bakers, all raising money for our cause – and that’s not even including the thousands of stamps we’ve had sent in. There have been some amazing achievements and we are truly grateful for all of our fundraisers support – we couldn’t continue our work without their help. We still have another two fundraising events planned, our Dare for Rare Skydive and the Royal Parks Half Marathon, so if you’d like to join our team please get in touch!

5.Findacure on Tour

In May, Findacure embarked on an exciting adventure – road tripping down from Cambridge to Cardiff in the name of The Cardiff Rare Disease Showcase. This was an important moment for us, as we tested out the second in our ‘showcase’ event series in an area we’d never been before. Despite some initial concerns, the evening turned out to be a great success. 35 delegates from Wales’ (and the wider UK) rare disease community joined us to hear about the inspirational projects taking place in the nearby area, and to network with other like minded individuals who want to drive progress in rare diseases. Our next showcase is taking place in Cambridge, with another planned in Newcastle later in the year – make sure not to miss out!

All in all, we’ve had a great year so far and can’t wait to see what the rest of 2017 brings!

Chronic Paroxysmal Hemicrania: A Mother’s Account

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.


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.


“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.


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


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.