Twitter chat on #raredisease

On 5 November the regular #irishmed twitter chat (Wed, 10pm) hosted a discussion on rare disease. The regular host is @drlfarrell, a GP and writer, and he asked our own @speccymcspec to co-host. Questions included: how common are rare diseases?; which is more challenging, diagnosis or treatment?; who/where are the experts?; what support is available? There were over 100 individual tweeters from around the world participating and nearly 1000 tweets sent. It was the busiest hour on twitter ever experienced by many of us. So great was the interest it was difficult to keep up. Thankfully, a transcript is available, and is worth checking out.

the #irishmed connections

the #irishmed connections

A flavour of what was said is below- from my own notes: check the transcript for full record.

On diagnosis

– uncommon presentations of common conditions are more common than common presentations of uncommon conditions

– late diagnosis can be disastrous

– disparate symptoms with no dot joining

On management

– hard to do with no experience

– management eased by internet and support groups

– may not need orphan drugs, but better management

– centres of excellence safer than sub optimal local management

– best healthcare professionals realise they need bigger teams

On expertise:

– if you’re a patient with a dangerous rare disease and you’re not dead yet, you’re an expert

– lots of experts, patients, families, doctors, nurses, phas; communication is key

– patients are creative about finding support -‘I don’t know’ leads to progress, new treatments, new ways of thinking

– Dr Google

Key actions noted:

– increase awareness

– support GPs

– support clinical teams

– improve access to genetic testing

– need for validated/ curated sources of information

– guidelines for diagnosis and treatment in line with international expertise

– registries

– working together, importance of collaboration & communication

– research

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Genetics and Popular Science

The School of Biological Sciences cordially invites you to attend the RAE Armstrong Public Lecture Series 2014 which will be given by Dr David Timson, Reader in Biochemistry, School of Biological Sciences, Queen’s University Belfast.

Details are as follows:

Date: 12 November 2014
Time: 4pm
Venue: Medical Biology Centre Lecture Theatre 1
Lecture Title: When genes go wrong

Date: 26 November 2014
Time: 4pm
Venue: Medical Biology Centre Lecture Theatre 1
Lecture Title: Treating the “untreatable”: new ways to treat genetic diseases

Date: 3 December 2014
Time: 4pm
Venue: Medical Biology Centre Lecture Theatre 1
Lecture Title: We’re all mutants

These lectures are aimed for the informed general public and academics and are also ideal for A-Level students in Biology, especially those hoping to do Medicine, Pharmacy or Biomedical Sciences.

Refreshments will be served afterwards from 5:00pm on the days of the lectures. In order to assist with catering arrangements, please confirm via email (m.mervyn@qub.ac.uk if you wish to attend.

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DHSSPS Consultation – your input is needed!

DeptHSSPS-rgb_hr_web

Following publication of the UK Strategy for Rare Diseases in November 2013, all four UK countries agreed to develop an implementation plan or high level strategies, relevant to their respective jurisdiction, to deliver the 51 commitments by 2020. This strategy aims to ensure that people living with a rare disease have access to the best care and treatment that health and social services and relevant partners can provide.

The Department of Health, Social Services and Public Safety (DHSSPS) published a Statement of Intent in June 2014 which set out the Department’s approach to delivering the 51 commitments in Northern Ireland.

DHSSPS in association with members of the NI Rare Diseases Stakeholder Group (NIRDSG) have now developed the draft Northern Ireland Rare Diseases Implementation Plan. It sets out in detail how the Department proposes to deliver the 51 commitments, in partnership with the wider Health and Social Care system in Northern Ireland.

NIRDP wants to hear from you. Please send your comments / responses to info@nirdp.org.uk

For further details see http://www.dhsspsni.gov.uk/showconsultations?txtid=74325.

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Autumn Partnership Meeting – Big News

More news on our Autumn Partnership Meeting, to be held from 10.45 to 12.30 (immediately after our AGM) in the Castleview Suite in the Pavilion at Stormont, on 27th October.

Jim Wells, MLA, Minister for Health, who will be the main speaker, will be making an important announcement about the long awaited Northern Ireland Rare Disease Implementation Plan.

Alastair Kent OBE, the Chair of the UK Rare Disease Forum, will update us on progress in England, Scotland and Wales; and Philip Watt, Chair of the Irish rare Disease Taskforce, will describe what is happening in the south.

There will be an opportunity to meet the Minister, and key officials; ask questions; and think about the key issues we need to tackle in making sure that the Vision of the UK Rare Disease Strategy – that no one is left behind just because their condition is rare – is realised in Northern Ireland.
All MLA’s and MP’s have been invited, so make sure you contact your MLA’s and MP to encourage them to come along, and show their support for this important step forward in getting rare diseases taken seriously in Northern Ireland!

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Foodie Delight Fundraiser

Mark Bevin, head chef at the Maldron Hotel is hosting a charity event with a difference this Friday night (17th October) at the Europa.

Mark has been gathering cookery books signed by the celeb chefs for a huge book sale and foodie event, with the proceeds going to NIRDP. Mark has received donations from Theo Randall, Michael Roux Junior, Ching He Huang, Mark Hix, Nigel Slater, Clodagh McKenna and Chapter One in Dublin. The list just goes on and on.

nirdp books

Are you a foodie?

A shopper?

A cookery book enthusiast?

An autograph hunter?

Do you fancy a night out on Friday?

Join us at the Europa, 8pm for a fabulous evening of fundraising! Bring your friends, neighbours and passing strangers…

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Palliative Care Week 6-11th October

Next week is Palliative Care Week.

Organised by The Palliative Hub, this event is the first-ever all island Palliative Care Week takes place from October 6-11.

It is being coordinated by the All Ireland Institute of Hospice and Palliative Care (AIIHPC) and they want to encourage serious but positive conversations. They aim to raise a deeper public understanding of palliative care regarding when it can be used, who it is for and what its benefits are.

For further information see www.palliativecareweek.com

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NIRDP AGM and Autumn Partnership Meeting

Save the date!

27th October, 1000 – 1230pm Stormont Pavilion, Belfast

We are planning for our NIRDP AGM and Autumn Partnership Meeting.

Come along to hear about the progress the NIRDP has made and to plan our next steps.

Come along to hear what’s happening on The Rare Disease Strategy and on other developments in health and social care!

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Recovering from Disability Pride

A bright sunny Saturday in Belfast is worth celebrating in itself; a bright sunny day for Disability Pride was well nigh remarkable. Hundreds of people turned up, joining together to party.

Disability Pride parade and fun day in Belfast City Centre. Picture by Jonathan Porter/Presseye.com

Led by a brass band, we paraded through the city centre, singing, waving and cheering. There were minions, princesses and other animated characters. In the grounds of City Hall, there were food stalls, information tents, a concert and much grinning. A woman, unconnected with the event, approached me to tell me she’d been at many goings on at City Hall, but she’d never before seen anything where everybody was smiling.

 

People came for the parade, and stayed to party in the sun with the fabulous drama group, the wheelchair dancers, the comedian and the ska band.

Many, many congratulations and thanks to the organisers for their vision, commitment and hard work in making the day possible. It was fun, exciting and empowering. Roll on 2015!

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Rare disease and research – find out more

Rare Disease and Research

25th September, 2014

6.30pm

Postgraduate lecture theatre, Belfast City Hospital

genes

 

Reception from 6pm, with food and drink

6.30 An introduction to the Rare Disease Plan  Christine Collins, NIRDP and HDANI

6.40 Huntington’s Disease  Majella McConville, HD Specialist Nurse

7.00 KEYNOTE  Why does research matter? Charles Sabine, international patient advocate

7.30 Research on a shoestring  Professor Patrick Morrison, Professor in Genetic Medicine, QUB

8.oo Rare disease research- the nuts and bolts!  Dr Amy Jayne McKnight, senior lecturer, QUB

8.15 Panel discussion, all speakers

8.30 End

To register attendance, please email events@nirdp.org.uk, including any dietary requirements

This event is run by Huntington’s Disease Association NI, NIRDP and the Public Health Agency.

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Disability Pride Parade 2014

Get Set for Disability Pride Day!

We are now getting names, numbers and other details for the Grand Parade from Writers’ Square (St Anne’s Cathedral) to the City Hall; so register below:

And space in the Parade for those who want to walk, dance, zoom, or otherwise take part in the Parade to the City Hall… BUT we do need to know numbers and other details, so we can sort out the detailed arrangements..

Or you can just join the fun at the City Hall itself: we will have a NIRDP tent, to be a site for people to meet up and mingle – and set forth to enjoy all the fun of the fair!

ANY QUESTIONS? email pride@nirdp.org.uk

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