Rare Disease & Why it Matters

Ahead of International Rare Disease Day (Monday 29th February 2016) – We are delighted to share a special guest blog from Fiona McLaughlin, volunteer with the Progressive Supranuclear Palsy Association and Northern Ireland Rare Disease Partnership, on why rare disease matters.

Why Rare Disease Day Matters

I didn’t plan on knowing about rare disease, but my mother taught me, just as she taught me so much else. She didn’t intend to; she had other plans. But life intervened, in the form of the rare neurological condition Progressive Supranuclear Palsy.

A medical condition with ‘progressive’ in its name is not subtle. Surprisingly, it wasn’t a hard to hear diagnosis. Because we didn’t understand. We didn’t know enough to be freaked by “Progressive”. We’d never encountered neurological illness, so we still expected that there’d be something to be done. That notion wasn’t helped by the fact that the consultant gave us the name and no other information. No fact sheet, no phone number, no website, no specialist nurse. We went home, happy to have a name. Eventually, with the help of Dr Search Engine, reality began to dawn. We realised what progressive meant. We learned that there was no cure, no treatment, just a protracted decline. We learned that nobody knew much about it. Before long, we learned that we were experts in her experience. How could that be possible? Surely there should be a grown up medical expert flying in to help?

Nothing about PSP was easy. My mother fell often, requiring multiple visits to A&E. She lost her ability to walk, talk, speak or swallow. The condition was relentless, affecting her mobility, balance, vision and cognitive ability. She had delusions. A series of home adaptations failed to keep up to the demands of her deterioration. She moved to full-time nursing care, PEG feeding and becoming confined to bed. We were all defeated by PSP. Her husband, children and grandchildren, her siblings and wider family, her good friends – we were all helpless and heartbroken. We could only watch, hold her hand, and absorb each blow, each little loss, and know that the big loss was coming ever closer.

My mother – the strong, vibrant, laughing one – was 68 when she died.

During her illness, we began to learn of the challenges associated with having a rare condition. We learned about the limits of medical expertise. We learned about wheelchairs, nursing homes, and all sorts of therapists. We learned about isolation. We learned about bewilderment. We learned about despair and anguish. We learned to dread the phone ringing.

But we also learned about the power of someone saying, “I know about PSP and I can help.” Someone who understood the issues, and who walked with us. We were lucky.

There are over 7,000 rare diseases, with more being identified. While numbers affected by individual conditions are low, collectively, rare disease is common. It is estimated that around 106,000 people in Northern Ireland live with rare disease- a population the size of our second city.

29 February 2016 is international Rare Disease Day. A day to gather and reflect, a day to connect and celebrate. A day to meet others in a similar situation.

The UK governments have a vision for rare disease ‘where no one is left behind’, and key themes: empowering those affected by rare disease; identifying and preventing rare disease; diagnosis and early intervention; coordination of care; the role of research; grasping opportunities for international research and in Northern Ireland working with the Republic of Ireland.

The NI implementation plan was announced in the autumn, and now we need to get on with the implementing. The priorities in NI are registries and communication. Communication between patients, families, clinicians, researchers and commissioners. Communication so that patients and families are not alone, and can share their experience and learning.

The theme for this year is ‘Patient voice: join us in making the voice of rare diseases heard’. The Northern Ireland Rare Disease Partnership is hosting two events on 29 February. A conference showcasing the work of patients and families in the areas of educating, advocating and innovating, along with a mini problem solving ‘hack’; and a reception at Parliament Buildings, where the first report of the UK Rare Disease Forum will be presented to the Health Minister.

Rae Disease Day brings a focus to work happening throughout the year, across the world. It’s a chance to review progress, consider challenges, to promote new thinking, and to learn from each other.

For patients and families, Rare Disease Day is an opportunity to participate, to show and to know that we are not alone, that our voices are being heard, and that we can make a difference.

We will be together. There will be cake.

Fiona McLaughlin

 

Links:

The UK Strategy for Rare Diseases: https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/260562/UK_Strategy_for_Rare_Diseases.pdf

Rare Disease Day info: http://www.rarediseaseday.org/

NI Rare Disease Implementation Plan: https://www.dhsspsni.gov.uk/publications/northern-ireland-implementation-plan-rare-diseases

What is Progressive Supranuclear Palsy? http://www.pspassociation.org.uk/what-is-psp/

Northern Ireland Rare Disease Partnership http://www.nirdp.org.uk/

Fiona McLaughlin is a volunteer with the PSP Association and NI Rare Disease Partnership. She is active in a number of PPI initiatives. She writes and talks about rare disease, patient voice, and ME.

 

 

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  • Polly

    Fantastic blog – thanks Fiona. My family have also had to learn about a rare neurological condition and we had very similar experiences post diagnosis: no information, no support, nowhere to turn but Dr Google. For us the situation is markedly different however as the condition I have to co-exist with is not progressive or life-threatening – my heart goes out to you and your family.
    Mine have been wonderful. They have stepped in to care for me, help me understand the limited research and support me in my transformation from desperate, hopeless patient to rare conditions advocate/activist. Not everyone is so lucky, but since I am I hope I can pass on the support they’ve given me to others.
    I am inspired by your determination and thank you, again, for a great blog.

  • Beautifully written Fiona. I hope to see you on Rare Disease Day. xx