BREXIT and access to medicines

Before Christmas, NIRDP wrote to the Secretary of State for Northern Ireland asking for reassurance that access to medicines, especially those specialist drugs needed for rare diseases, would be maintained in the event of a No Deal Brexit.

Her reply is below:

Response – SoS – Ms Walker – MC-19-83

Also, the following Written Statement has been issued by the UK Minister of State for Health, Stephen Hammond: https://www.parliament.uk/business/publications/written-questions-answers-statements/written-statement/Commons/2019-02-25/HCWS1358/

Essentially, these confirm that Northern Ireland has been included in the UK wide contingency plans; and access to medicines and medical supplies (including for clinical trials) should be secure, safeguarded by the provision of:

  • additional stockpiles in case of delays to ferry crossings;
  • air transport for time critical supplies;
  • prioritisation of medical supplies in the ferry spaces which government has purchased.

If anyone has a particular worry, contact us on info@nirdp.org.uk, and we will follow up.

Foyle and North West Forum meeting update

The Foyle and NW forum (NIRDP) meeting took place on Saturday 19th May and it was great to welcome old and new faces to the group. There was lively discussion about issues affecting those with rare diseases with particular reference to:

  • Support for carers available via the health and social care trusts
  • Importance of raising the profile of rare disease by telling our stories – thanks to Anita McDowell for allowing her story to be shared via the Derry Journal. Attendees were encouraged to utilise 10,000 more voices initiative to share their patient experience
  • Courses offered by recovery colleges and how to influence their prospectus
  • Challenges associated with travelling outside NI for medical appointments
  • Challenges for children and parents accessing appropriate educational support with rare conditions. Signposting to SENAC is advised but need to be aware the service is in high demand and early intervention is important .
  • Education Authorities are working under tight budgetary constraints and access to Statutory Assessment and the Statementing process and subsequent provision of support can be delayed.

We look forward to hearing more about the potential for an EDS and associated conditions conference that is being proposed by EDS UK with support from NIRDP.

The group will continue to meet quarterly, next meeting will be planned for September with details to follow.

 

An Honour

We are delighted to share the news that our volunteer Christine Collins, has received the honorary award of MBE from Her Majesty The Queen today for her outstanding services to people with rare diseases.

Christine Collins, MBE

Christine, a retired civil servant, is well known for her role as the founding Chair of the Northern Ireland Rare Disease Partnership in 2011 as well as being a widely respected former NI Human Rights Commissioner and winner of 2017 CO3 Trustee of the Year award.

The New Year Honours lists 2018 recognise the achievements of a wide range of extraordinary people across the UK.

Christine comments “It is such a great honour to be recognised with this award; I am absolutely thrilled. I also feel grateful to be able to help bring to light the issues for those who are living with or affected by rare conditions across Northern Ireland.”

Current Chair of the Charity, Fiona McLaughlin adds “We feel incredibly proud of Christine and are delighted that all her hard work has been recognised in this way. Christine has been at the heart of our charity for many years and works tirelessly to ensure that no one should be disadvantaged because of the rarity of their condition.”

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!

next steps- staff!

We are delighted that we have been awarded funding by the National Lottery through the Big Lottery Fund, for a 2 year pilot project. The Stronger Together project will work to build capacity within and across the rare disease sector and help to identify development areas for the future.

We will employ 2 part time, home based staff, one to cover the Western and Northern Trust areas, the other to cover Southern, South Eastern and Belfast areas.

The Project Officers will build up knowledge and support in their areas, linking with health & social care and other voluntary organisations. The project officer team will be first point of contact for people living and working with rare disease.  The project will provide practical advice, signposting, peer support and volunteering opportunities. It will also work to improve networking, partnership engagement and seek to influence relevant policy.

Our application to the Big Lottery Fund was heavily influenced by the discussions in the workshop series held in the Spring- thanks to everyone for their input in shaping what is becoming the Stronger Together project. We will continue to share our learning to improve services.

Information about the posts and the application process is available at Community NI

 

Please share with anyone you know who may be interested in working with us. Applications close on 7 July, 5pm. CVs will not be accepted.

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 …

NORTHERN IRELAND RARE DISEASES IMPLEMENTATION PLAN – FOCUS WORKSHOP FOR HEALTHCARE PROFESSIONALS

This is to provide more information on the Focus Workshop, aimed primarily at Healthcare professionals, which is being held from 4pm to 7pm on 7 June, in the Grosvenor Hall, Glengall Street, Belfast BT15 5AD.

The Focus Workshop builds on the Workshops held across Northern Ireland during March and April. It will consider the findings and recommendations from those Workshops; and agree priorities for action.  It will also focus on identifying existing information and communication channels used by clinicians and other healthcare professionals working with rare diseases; and consider how these might be improved.

Please register now to attend; and also complete the Survey to ensure that your voice is heard!

 

NI Rare Diseases Implementation Plan: work in progress!

At last, work is underway on all four of the Priority Actions in the NI Rare Diseases Implementation Plan:

  • The NI Genomic Medicine Centre is now established; staff are being recruited; and protocols for evaluation of the outcomes are being developed with NIRDP input;
  • Over the past month, NIRDP has  held well attended Communications and Information Review Workshops across Northern Ireland.  Thank you, to all those who came along and contributed so powerfully; and a special “Thank You” for their time and support to our speakers, Dr Fiona Stewart, Dr Vivienne McConnell, Dr Deidre Donnelly, and Dr Gillian Rea from the Regional Medical Genetics Service, to Ryan Wilson from the Department of Health, and to our Facilitator, Grace Henry.

The views and ideas from the Workshops are now being analysed; and will be added to the information from the Online Survey- which is still open.  So please go to the Survey, and make your voice count! The emerging findings will be considered in a Focus Workshop on 7 June: Register your interest in attending this event here

Work is now also starting on:

  • Scoping for a Rare Diseases Registry for Northern Ireland, looking at how to establish a Registry, including the need for information on congenital abnormalities, and for links to existing and developing information systems (such as the new English system, NCARDRS), whether in the UK, Ireland, or internationally; and
  • A Training Needs Analysis for doctors and other clinicians in rare diseases building on the existing presentations, delivered in part by NIRDP Members,  in year 1 and year 5 of the medical training course.

This work programme is being overseen by the Rare Diseases Implementation Plan Steering Group, led by Professor Ian Young,  Chief Scientific Adviser to the Department of Health.  The aim is to have a Report by Christmas; an “action research model” is being used, so wherever possible learning can be translated into practice without delay.

 

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

You couldn’t make it up…

Many of us have had those moments. The moments when we’ve been baffled/ bewildered/ outraged by our dealings with healthcare professionals:
e.g. A&E telling you your case is too complicated and to talk to your GP
e.g. your GP telling you to register at another practice because your condition is too complex
e.g. your ‘specialist’ telling you they don’t believe in your condition.

We’d like to collate these, and share them, to help make a difference.
What’s your moment?