Rare Disease Day!

Rare Disease Day takes place on the last day of February each year (29th February itself being a rare day). Rare Disease Day is about raising awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

We know that it’s not that rare to have a rare disease, but that’s not how it feels when you and your family experience that odd illness that nobody knows much, if anything, about. We know how important it is to come together and share experiences, to learn from each other and to amplify each other’s voices. We know the importance of working together to make change happen.

Today, NIRDP are holding events, hosted by the Mayor of Ards and North Down Council, and the Mayor of Derry City and Strabane Council. Many thanks to them for their help and hospitality. On Monday we host the 4th Joint North South Conference on Rare Disease at Riddel Hall, Belfast. We are all busy, and delighted to be so.

We hope you can join us- at an event, on Facebook or Twitter. Take some time to acknowledge how awesome you are, and the progress we’re making together. And, if you can, grab a slice of cake to celebrate!!

 

 

Rare Disease Day 2018: Joint North South Conference, Riddel Hall, 5 March

 

Rare Disease Day is coming !  This year, we are looking forward to welcoming you to the fourth Joint North South Rare Disease Day event, held with our friends the Irish Rare Disease Taskforce, on 5 March 2018 in the splendid surroundings of QUB’s Riddel Hall, Stranmillis Road, Belfast.

The Theme for this year’s Rare Disease Day is Research; and the Joint North South Conference will focus on:

  • Rare Disease and the UK and R.o.I Strategies
  • Expert Patients: Engaging with Research: EUPATI UK and RoI
  • Patients and Researchers: examples of good practice
  • Beyond the 2016 to 2020 Strategies: Next Steps

We are still working on the Programme, so watch out for updates!

Register now (FREE)  here

 


 

 

 

 

Foyle & NW forum

We had a meeting of our Foyle group on Monday 6 November & were delighted to mark the start of the Stronger Together project in the area.

Our Project Oficer is Tanya Boggs, and she’ll be working across NHSCT and WHSCT to support people living or working with rare disease. She comes to us with many years nursing experience at Great Ormond Street Hospital. Tanya can be contacted at tanya@nirdp.org.uk  07927 170 138 and will be working 18 hours per week.

We welcomed Helen, Jane and Ashleen from QUB, all of whom are working in the area of rare disease- education, communication and genetics.

Gina updated us on the work of the Our Children’s Voice group- we’re looking at how NIRDP and OCV can work together to support families in border areas.

Carol reported back from one of the WHSCT meetings on savings/ cuts. The financial shortfall is less significant now, but there’s always negotiations to be had. We encourage members to get their voices heard and participate in discussions.

Creea Convery from MND Association raised the issue of challenging referrals from GPs to specialists- either not soon enough, or with inadequate information for the neurologists to triage appropriately.

Neurological Care Co-ordinator, Tracey Magowan, talked about the role of care advisers based at neurology clinics. They support patients and families to navigate the systems, sign post, and provide localised information and fact sheets. Another care adviser is being recruited to cover clinics at Altnagelvin.

We had another chat about the needs of patients with EDS. NHS England are working on a care pathway. NIRDP are interested in developing a piece of work looking at the patient journey. This may form part of the peer support work during the Stronger Together project. Watch this space!!

We agreed to gather again for a pre Christmas cuppa and chat at the City Hotel on 14 Dec, 11am.

Stronger Together Project starts work!

 

Sandra Campbell, Tanya Boggs, and Fiona McLaughlin: Getting the Stronger Together Project off to a great start in Derry! 

Today marks a great step forward for NIRDP and for all those affected by rare diseases in Northern Ireland, as Tanya Boggs, our first “Stronger Together” Project Officer, starts work!

Fiona McLaughlin (NIRDP Chair) and Sandra Campbell (NIRDP Director and Foyle and NorthWest Rare Disease Forum Lead) welcomed Tanya; and started the process of building our “Stronger Together” Project, funded by a grant from the Big Lottery.

Our NIRDP vision is that no one is disadvantaged because of the rarity of their health condition. Stronger Together is a 2 year pilot project which will enable people who live or work with rare disease to connect, advocate, educate and innovate in partnership with each other and others (e.g. Department of Health; other Departments; other charities). The project will provide peer support, volunteering, networking and advice.

It aims to make the ideas put forward  in the Communications Workshops earlier this year, for improving accessibility to information and support into a reality; and so to make a positive difference to the way people affected by rare diseases live.

Come along to the  Foyle and North West Rare Disease Forum meeting in the City Hotel, Derry on Monday 6 November from 11am to 1 pm to meet Tanya and others, and to celebrate this first step on the road!

Who knows what in rare disease? Engagement, information and communication

As part of the work on the NI Rare Disease Plan, NIRDP has been running a series of Workshops across Northern Ireland, and an Online Survey, to identify information needs in relation to rare disease issues; what information is currently available and what information people would like to help them live or work with rare conditions.

On 7 June, a workshop chaired by Professor Ian Young, the Chief Scientific Officer and Chair of the NI Rare Disease Implementation Group,  heard about progress in genetics, presented by Dr Tabib Dabir, Clinical Lead, NI Regional Medical Genetics Service (and member of NIRDP’s Board)  and in metabolics, presented by Dr Clodagh Loughrey, Consultant Chemical Pathologist and Clinical Director Laboratories, BHSCT.

It’s clear from these presentations that the pathway to diagnosis, and the options available for management and treatment of complex and rare conditions, will soon alter dramatically.  Indeed some changes are already happening, with an individual’s genetic make up helping to determine the best course of treatment in some cases. It’s essential that we think through how to make best use of these advances!

Participants then considered the emerging findings from the Workshops and the Survey, presented by Dr Jane Miller, Research Fellow at the NI Genomic Medicine Centre  and NIRDP Chair Fiona McLaughlin, before working in five groups to validate and  consider how progress could be made on the key areas identified in the Workshops and in the Survey.

Suggestions for improving information and communications

  • Develop care pathways / flow charts / support plans / signposting.
  • Have one ‘go to person’ who co-ordinates care and information sharing between those involved in care:  “Care navigators” to support patients, families, and clinicians.
  • Develop a hub / portal for accessing information for medics, other professionals and people with a rare condition/disease.
  • Develop referral routes to support groups, or to other people with the same condition, from the point of diagnosis.
  • Look and take learning from other models e.g. Cancer Care; Maternity Care (where mothers hold information in The Red Book) Downs Syndrome etc.

There were many valuable suggestions, and much learning across the whole group- for example, about the proposed introduction of the SNOMED coding system across both primary and secondary care; and planned technological developments within Health & Social Care.  Also, locally based training for patients, along the lines of the EUPATI modules some of our members are already familiar with, is hopefully to become available.

We are still processing all the information that emerged; and planning follow up through a virtual working group to take forward the ideas in more detail.

Further details to follow- watch this space!

And if you haven’t already done so, please complete the Survey and get your family and health care colleagues to do so too …

Good News on access to drugs for rare conditions: Thank you, Minister!

Health Minister Michelle O’Neill today announced that eligible patients in the north of Ireland will receive innovative new drugs for the treatment of very rare conditions. The Minister has confirmed that drugs evaluated under the Highly Specialised Technology Programme of the National Institute for Health and Care Excellence (NICE), will be made available to patients with very rare conditions including atypical Haemolytic Uraemic Syndrome, mucopolysaccharidosis type IVa and Duchenne muscular dystrophy caused by a nonsense mutation.

The Minister said: “My Department is working with the HSC on a range of initiatives to bring more efficient and effective processes right across the system in prescribing, workforce planning and service delivery. I will continue to make decisions based on clinical advice and will work with my colleagues in the Executive to make sure that health and wellbeing remains a priority for all.
There are many challenges facing us in health and social care. From today, access to the most innovative medicines for the rarest conditions is not a challenge for patients in the north of Ireland.”

This is very welcome news, which will transform lives.
We will continue to work closely with the Department, and with the HSC to ensure that those living with rare diseases are not disadvantaged simply because of the rarity of their condition; and to support changes to make the system more efficient and effective

Rare Disease Day 2016 Patient Voice and Empowerment

Rare Disease Day 29 February is getting close!  Here are the full programmes for the Conference in Riddel Hall, and for the Reception in the Long Gallery at Stormont; follow the links in the post below to register NOW

The Conference is a unique opportunity to hear from Dr Michael McBride ,our Chief Medical Officer and from a range of patients, carers, and professionals about what is already happening; and to engage in developing what more could be done to make a difference to the lives of those affected by rare disease.

INTERNATIONAL RARE DISEASE DAY CONFERENCE: PATIENT VOICE AND EMPOWERMENT
10.00 to 10.30 Registration
10.30 to 10.35: Welcome – Christine Collins, Chair, NIRDP
10.35. to 10.45: Keynote Address: Rare Disease and HSC Transformation- Dr Michael McBride, Chief Medical Officer, Northern Ireland
10.45 to 11.20: Educating: Miriam Martin, SACA; Dr Mairead Corrigan, QUB; Michaela Hollywood, MDUK Trailblazers;
11.20 to 11.55: Advocating: Fiona McLaughlin PSPA NHS IQ Certificated Change Agent;  Noirin O’Neill, EUPATI Fellow; Sandra Campbell, NIRDP Foyle and North West Co ordinator; Carol McCullough, NIRDP Consultations Lead
11.55 to 12.30: Innovation: Alison Wilson, All Ireland Advocacy and Support Officer, MPS Society;Dr Breidge Boyle, UU; Julie Power, Vasculitis Ireland, EUPATI Fellow; Joanne Westwood, N.I. Neurological Care Advice Service
12.30 to 12.45: Round up of Panel Sessions: Reflections
13.00 to 13.45 Lunch: INFORMATION STANDS, INCLUDING RNIB; ACTION FOR HEARInG LOSS; 10K VOICES; AND PATIENT ORGANIZATIONS
13.45 to 14.00: NI Medical Genomic Centre Dr AJ McKnight, QUB
14.00 to 15.15: Seizing the opportunity “POLICY INTO PRACTICE” interactive workshop David Finegan, NIRDP
15.15 TO 15.30 : CONCLUSIONS AND CLOSE

The Long Gallery Reception is a chance to hear from Alastair Kent OBE, the Chair of the UK Rare Disease Forum, about the role of patients in driving and developing change; and to hear from Minister Simon Hamilton about his vision of the way ahead.

NIRDP International Rare Disease Day Reception at Stormont

17.00 to 17.30: Registration
17.30.to 17.45: Welcome and introduction: Kieran McCarthy, MLA; Dr Vivienne  McConnell, Clinical Lead for Medical Genetics

17.45 to 18.00: Alastair Kent OBE: The role of empowered patients in oversight

18.00 to 18.10: Minister Simon Hamilton MLA: Working together to provide high quality care for people with rare diseases
18.10-18.15: Thanks and Close: Christine Collins, Chair NIRDP
18.15 to 19.00: Photo Opportunities and Networking: Refreshments

See the post below to register! 

Let’s talk about the plan

NIRDP are pleased to announce that we will be coordinating a series of open meetings across the region for consideration of the draft NI Rare Disease implementation plan.

The meetings are open to all, and are being held in association with senior clinicians, experienced in a range of rare diseases. They are an opportunity to meet others interested in rare disease, and to share experiences and thoughts on the development of services until 2020.

What matters to you?

 

Date Place Time Senior Clinician Venue
17 Dec 2014 Gransha Londonderry 2pm – 4pm Dr Stewart Board Room, Gransha
6 Jan 2015 Swah, Enniskillen 2pm – 4pm Dr McConnell TBC
7 Jan 2015 Newry TBC TBC TBC
8 Jan 2015 Craigavon Area Hospital 2pm – 4pm Dr McConnell Dr Magee Conference Room, Portadown Care and Treatment Centre
12 Jan 2015 Antrim 2pm to 4pm Dr Stewart Whinstone Suite, Antrim Civic Forum
13 Jan 2015 Belfast 4pm – 7pm Dr Deidre Donnelly, Dr Shane McKee, Dr Tabib Dabir Science Block A, RVH

 

The Department wants “to ensure that feedback from service users and carers underpins the identification of the commissioning priorities for rare diseases.” These open meetings are one way of being involved in that process.

We will be putting each event up on Eventbrite- so that you can tell us if you are planning to come, and we can get the tea/coffee and biscuit orders right (or anything else you need to make the event work for you!)

We will also be producing a key points guide to the draft Plan- so you can focus more easily on what matters to you…so watch the website…

You can also email ImpPlan@nirdp.org.uk  chat to us on Facebook or twitter and/or respond to the DHSSPS directly at RDIP@dhsspni.gov.uk

We are looking  forward to seeing you!

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