Rare Disease Day

I have been working to improve the lives of those living and working with rare diseases for more than 30 years.  I live with my mum Cindy, husband Sam, and daughter Danika Jayne, along the ‘Ards peninsula.   

We have six rare diseases in our family and have been involved with multiple charities over the years, including our family founding the Muscular Dystrophy Group for Northern Ireland in the 1950’s and most recently participating on the Board of Directors for the Northern Ireland Rare Disease Partnership, where Cindy is a current board member. 

There are approximately the same number of people affected by rare diseases across Ireland as there are living with diabetes, yet rare diseases receive much less recognition and support.  I work closely with colleagues in government, Health and Social Care, the Public Health Agency, Universities, industry and charities to help improve the lives of people living and working with rare diseases.   

More than 110,000 people across Northern Ireland are affected by rare diseases, rising to 450 million people globally.  Rare diseases affect 1 in 17 people across all ages and communities.  The 28 February is known as Rare Disease Day internationally; rare disease communities mark the day by getting together, hosting public events, and lighting up buildings in respect of those who live with these lifelong, complex conditions every day.  Rare diseases often have a significant impact on people’s family, friends and work colleagues.  

Our health and social care systems are not designed for rare diseases.  Rare diseases cost the NHS more than £3.4 billion prior to diagnosis and many patients wait more than 10 years to get an accurate diagnosis, with the majority receiving at least one wrong diagnosis.   

Some people never get a name for their rare disease.  Our routine screening tools do not identify most rare diseases.  Approximately 70% of rare diseases affect children, with 30% of those children dying before their 5th birthday. Most children who die in Ireland under the age of 15 years have a rare disease.    

Rare diseases are often multisystem disorders and patients may see 10 different consultants regularly who rarely share information.  Many people with a rare disease have lifelong complex care needs, with challenges exacerbated by the COVID-19 pandemic.  95% of rare diseases do not have an approved treatment and there are demonstrated health inequalities for the rare disease community.   

Challenging mental health aspects of living with a rare disease are as important as physical aspects as they often go hand in hand in maintaining patient wellbeing; there is a serious lack of such mental health support available for rare disease patients.  More than 80% of our local rare disease community believe most medical professionals do not have the correct knowledge to look after people with a rare disease. 

While there is much work yet to be done, there has been considerable progress for our rare disease community in recent years.  I run a rare disease research group within the Centre for Public Health at Queen’s University Belfast.  In the last year we have provided dedicated rare disease teaching to undergraduate medical, science and nursing students, additionally providing postgraduate training to many professionals.   

We have published toolkits and educational material for health and social care professionals.  We have also reached out to schools and a wide range of community groups to help raise awareness of rare diseases.   

State of the art genetic testing approaches, combined with new clinical decision-making tools, are shortening the diagnostic odyssey for patients with a rare disease.  Innovative approaches such a decentralised clinical trials, offer more flexibility for patients with a rare disease and complex care needs, to benefit from emerging treatments as they can participate remotely or in their local community.  

We are working with patients and families to develop better support mechanisms throughout their medical journey.  We have published priorities for rare disease progress based on consultations with more than 2,000 people in our rare disease community across Northern Ireland.  Top-ranked priorities were to establish a rare disease registry for Northern Ireland as well as an information and communication hub where patients and healthcare professionals could find relevant information.   

Last year, the UK published a Framework for Rare Diseases that was agreed by our Minister for Health Robin Swann.  This framework set out a national vision to improve the lives of people living with rare diseases.  We are working with colleagues across the UK and Ireland to achieve this goal, with a focus on embedding the patient voice in national and international clinical research collaborations and delivering digital and technological innovations to help identify rare diseases more quickly.   

We are looking forward to progressing the explicit targets detailed in our forthcoming Northern Ireland Action Plan for rare diseases in 2022.  There are four broad priorities, including helping patients get a diagnosis faster, raising awareness of rare diseases among health and social care professionals, improving coordination of care and improving access to specialist care, treatment and drugs.  

My mum Cindy says, ‘I am very much looking forward to getting out again and raising awareness of rare diseases among my local community.  I think if we can talk more about rare diseases with children, then they will be more aware of rare diseases as adults. 

My husband Sam says, ‘It is good to see my local council support international rare disease day. Councillors Robert Adair and Janice MacArthur have been strong supporters of our rare disease community and we appreciate the support of council members, lighting the town hall in recognition of Rare Disease Day.‘ 

My name is Daryl Cupples and I was a premature baby in the 60’s. When I was 4 years of age, I told my mum that my back was sore, but she there is nothing wrong with it. I grew up with complicated medical conditions during my early and teenage years.  

I got married in 1992 and in 1995 I had a serious car accident in which I was badly hurt. My daughter was born in December 1997 and shortly after this I started having strange problems with my health. For example, blisters would appear on the back of my hands and on my fingers. There were several stages which took place when the blisters appeared. A few days after the blisters arrived, they would burst and the skin around them would be very itchy. Several days later, the skin became scarred.  

I asked my GP to refer me to a skin specialist. When I went to see her, the blisters had disappeared, and she wasn’t very helpful, so I asked my GP to refer me to another specialist to have a second opinion. I was fortunate enough to be referred to consultant, Dr Handley who had his own specialist skin clinic, based in the health centre which I was then attending, when I lived in Bangor.  

It was very fortunate that I was referred to this consultant, as he had first-hand knowledge of other people with the same symptoms which I had presented with. He was originally from South Africa and did his medical training there. He believed that I was suffering from a rare genetic condition called Porphyria Cutanea Tarda, (PCT), which was most prevalent in his home country of South Africa.  

During his training, he had experience of treating patients, who were suffering from PCT. He suggested that further tests should be carried out to confirm if I had this condition. The tests were carried out and samples sent to the labs at the Welsh Medicines Information Centre in Cardiff, the foremost centre for Porphyria sufferers in the UK.  

After the results came back, I learnt that there were 8 different types of Porphyria, and in fact I had Porphyria Variegate and not PCT as first thought. Porphyria Variegate has two distinct aspects, firstly the skin condition, which is quite visible, and secondly acute attacks.  

Acute attacks occur after puberty, and commonly feature severe abdominal pain, nausea, vomiting, constipation, muscle weakness, and pain in the back, arms, and legs. One very noticeable feature during an attack, is discolouration of the urine, being deep red in colour.  

The central nervous system is also involved, possible psychological symptoms, including hallucinations, confusion, mood changes and seizures.  My diagnosis of Porphyria Variegate (both aspects) was eventually confirmed in 1999, and the specialist noted this was a hereditary condition.  

Have you ever had toothache? 

If you’ve had toothache you’ll know how incredibly painful it can be. Now increase that level of pain ten fold, even more, and you may begin to understand what the pain of a rare condition called Trigeminal Neuralgia feels like. 

In 2009 after attending my dentist and several consultants, with the most excruciating facial pain, I was given that diagnosis. An MRI scan confirmed that to be the case and so my journey with Trigeminal Neuralgia began. I won’t lie, the pain I experienced was terrifying and I was afraid! I had a career and a daughter about to sit her transfer test and yet as a mother I was unable to function in any meaningful way. 

12 people out of every 100 000 are given the diagnosis of TN each year, but yet so little is known about it. After my diagnosis I was placed on a range of anticonvulsant medication, which primarily deals with nerve pain. My ability to eat, speak and work was impaired but there was no quick fix for my condition, I was told I had to try the medication first. The ‘suicide disease’ as it is known was now part of my life. 

As anyone who receives a diagnosis of a rare disease or condition knows, empowering yourself with knowledge of the condition is key. I explored websites and online forums and found an online group, Trigeminal Neuralgia Association UK who were able to advise me of the latest treatments and how to cope. Through their helpline and knowledge of the latest research at that time, I was advised to have invasive surgery called an MVD or Microvascular Decompression.

As this was not performed in Northern Ireland, I travelled to Liverpool to the Walton Neurocentre to undergo this. I was there for about 4 weeks due to a recurrent infection post surgery and my inability to fly. In layman’s terms, I now have a piece of Teflon in my head close to the brainstem which separates one of the cranial nerves from the offending artery which was triggering the pain. So far, it’s done its job although I still suffer pain 24/7, I have painful facial numbness. 

Rare Diseases Day raises awareness of rare diseases and conditions and highlights that you are not alone. There is help out there for you but very often it’s knowing where to find it. If you suffer from a Rare Disease please reach out to the Northern Ireland Rare Diseases Partnership 

If like me you suffer from Trigeminal Neuralgia, please do not suffer alone. I was an advocate for TNA UK here in Northern Ireland in the  past but I’m delighted that the this role is now occupied by Anne-Marie Poynor, Chair and Trustee of TNA UK. TNA also offer a freephone helpline 0800 999 1899 where you can speak with volunteers who understand the condition. There is also an email helpline: help@tna.org.uk which people can use if they are unable to speak. 

We all need a helping hand sometime and thankfully there are people who can help. There is hope. 

Visit Trigeminal Neuralgia Association UK (TNA UK) website 

Visit the Northern Ireland Rare Disease Partnership (nirdp.org.uk) for information and support.

To find out more about the Rare Disease Community globally visit Rare Disease Day 2022 – Raising awareness for patients, families and carers around the world that are affected by rare diseases.

Ards and North Down Borough Council will light up Ards Arts Centre, Town Hall, Newtownards in purple on 28 February 2022 in recognition of #RareDiseaseDay. This will become an annual light-up on 28 February / 29 February in a leap year.