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

Living Life with Rare Disease: Taking the scare out of Palliative Care

It’s time for our Summer Meeting! This year, we are holding it, on Friday 26 June, in the Day Room at the Foyle Hospice, 61 Culmore Road, L/Derry. Our theme is “Taking the scare out of Palliative Care”.

Palliative care is all about making the very best of life, from diagnosis on; and even when you have no diagnosis.  It’s about how to ensure the support that’s needed to live life to the full, in difficult circumstances.

We have a terrific line up of speakers, so this is a great opportunity to hear and learn about how a palliative care approach can support and improve quality of life, from diagnosis onwards or even if you have no diagnosis.  It’s a chance to have your say about how palliative care can be developed, for all those living or working with rare diseases.
A chance to meet up, make new friends and contacts, and share your knowledge and experience!

Register here:

Outline Programme:
9.30-10.00 REGISTRATION: Tea/Coffee; Scones
10.00 TO 13.45 PALLIATIVE CARE AND RARE DISEASE PROGRAMME:
10.00-10.35 Welcome: NIRDP Representative
10.35-10.45 A Patient/Carer’s Perspective: Sandra Campbell, NIRDP
10.45-11.05 Dr Aine Abbott, RCGP (NI): Supporting Communication: the Patient Passport
11.05-11.25 Dr Damien McMullan, Consultant, Adult Palliative Care
11.25- 11.45 Dr Heather McCluggage, Associate Specialist, Children’s Palliative Care
11.45-12.05. Katie Rigg, Nurse Specialist, Multiple Systems Atrophy Association
12.05-12.25 Donall Henderson, Chief Executive, Foyle Hospice
12.25-12.45 Paddie Blaney, Director, AIIHPC :
12.45- 13.45 Discussion Session: What needs to be done to improve support for rare disease?

LUNCH AND NETWORKING: 13.45 to 14.30
To include Soup, Sandwiches, and meeting and getting to know others.

If you want to join us just for the lunch and networking, please email events@nirdp.org.uk; and we will try to facilitate this; but we would encourage you to come and hear about how a palliative care approach can help make the most of living every day with a rare disease.

What’s On: Coming Events..

Just to keep you all informed- here are two of the rare disease related events which are coming up this month!

  1. The second All Ireland Neuromuscular Research and Information Sharing Day is being held in Riddell Hall, Belfast, on 16th May 2015. This event is co-hosted by Muscular Dystrophy UK and Muscular Dystrophy Ireland with registration starting at 9.30 am.
  • Prof Francesco Muntoni will be discussing their clinical centre of excellence and translational research for the benefit of patients, including briefly updating on muscle disease genes and measures for trial readiness.
  • Dr Ros Quinlivan is focusing on their new neuromuscular complex care centre (e.g. http://tinyurl.com/kx54rac) and transition.
  • Prof Eileen Treacy from Dublin is providing an update from their National Clinical Programme for Rare Diseases, and Aoife Bradley, from the Northern Ireland Regional Medical Genetics Service will be discussing pre-implantation genetic diagnosis.
  • Afternoon workshops will take place on Disability Sports and Independent Living, finishing the day with a LEGO fundraising event.
  • A parallel, medically-focused discussion session supported by the NIRDP is available with our international experts as requested 2.00 pm – 3.30 pm.

Everyone is very welcome to attend all or part of the day; so please spread the word, and please do register to accommodate catering.

For further information and to register for attendance please contact Demelza at d.stuart@musculardystrophyuk.org

2. Vasculitis Ireland Awareness have organised the first Vasculitis Conference in Northern Ireland, on “Managing Vasculitis” in the Burrendale Hotel, Country Club and Spa, Newcastle, Co. Down BT33OJY, on Sunday 24th May 2015, 9am-5pm.  

Topics discussed will include:

  • Vasculitis- the Basics: Dr Dearbhla Kelly, Specialist Vasculitis Clinic, St James’ Hospital, Dublin;
  • How we can help ourselves: Self help and Symptom Management groups available in NI: Tricia Bowers, Arthritis Care
  • How to get the most from our appointments: Kieran Brogan, Patient Advocate
  • Pain Management: Patricia Mc Crystal, Chartered Counselling Psychologist- Specialist in Persistent Pain, Southern  Health and Social Care Trust
  • Renal Patient View and the Importance of Registries: Dr Damian Fogarty, Consultant Nephrologist Belfast Health and Social Care Trust with special interest in research; and
  • How to improve our Health and Well Being: Dr Caroline Harper, Executive Medical Director/ Director of Public Health, Public Health Agency NI

The cost is £27.50 per person, including  lunch and refreshments.

There will  be information stands on how to access help, benefits, aids and appliances, and information on courses available to help maintain and regain independence.

This event will be of interest to anyone interested in improving management of a long-term chronic condition.

Register online at https://managingvasculitis.eventbrite.co.uk

For more details contact Julie at 02844 842889

 

Watch this space for details on the forthcoming Ataxia UK Conference (Radisson Blu Hotel, Gasworks, Belfast; 20 and 21 June 2015); and on NIRDP’s own forthcoming events…

 

 

 

 

Rare Disease Day

The 2013 theme for Rare Disease Day is Rare Disorders Without Borders– particularly relevant to a small island on the far west of Europe with its own international border.

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NI Rare Disease Partnership are co hosting a joint event with the charities interested in rare disease in the Republic of Ireland. There will be Ministers, a speaker from the EU, professors of complicated things, and examples of effective cross border health care work.

Most importantly of all, there will be patients, carers and families telling tales of living with rare disease, sharing their expertise with the Ministers, the policy makers and the commissioners. It is only by working together that we can begin to address the issues that affect us all- international boundaries are far from our only concern.

Our fabulous, dynamic, innovative event  will be held in City Hall, Dublin on 28 February. If you are interested in attending, you can register here. It will be well worth attending.

Visit  the main source of rare disease day information http://www.rarediseaseday.org/ for information, logos, guidelines for organising events etc

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Stronger Together

Over a thousand people, holding hands across the River Foyle. Radio, local press, YouTube video. Families, volunteers, the mayor and a jazz band. A fun day with activities. There was even sunshine.

What was it all about?

To raise awareness of the charity Shine, and to fundraise and support people living with the conditions Spina Bifida and/or hydrocephalus.

Those of us living and working with rare disease know that we can’t do everything ourselves; we need support, help, and even just a listening ear.

That’s why NIRDP exists. Join us or contact us. Help us to support each other.

We are stronger together.

 

What do you want the UK rare disease plan to include?

Those of us who live or work with rare disease in NI have an important opportunity just now. It’s the chance to make our voices heard- to get politicians and policy makers to hear what’s important to us, what will improve the care and quality of life for those affected by rare disease.

The four UK health departments have together produced a consultation document to form part of the basis for a UK plan on rare disease. The rest of the basis for that plan will come from the responses to this document: this is our chance to influence strategy.

NIRDP will be responding to the consultation as a partnership, and are also encouraging everyone with an interest in rare disease to respond individually. The greater the number of responses, the greater the impact. The government need our help to get this right. We have a chance now to get our stories heard, and the government have to respond.

At the NIRDP/RDUK event on 8 May, there was some valuable information, tips and advice on responding to the consultation document from Nick Meade, Policy Analyst.

  • Show your experience, establish why your opinion should be considered.
  • Don’t be constrained by the questions asked.
  • Only cover the topics you want to.
  • Identify any gaps- what have they missed out?
  • Give evidence from your experience to back up your point.
  • What is good about the plan? Let them know.
  • When being critical, give suggestions for improvements.
  • Be reasonable.
  • Praise, criticise, praise.

There will probably be one indidvidual tasked with reading all the responses, so make it easy for him/ her to grasp your points.

  • Be clear and concise.
  • Consider the layout.
  • Have an introduction and conclusion, use bullet points.
  • Ask someone with no interest in rare disease to read it first to make sure it makes sense to a lay person.

 

email your response to rarediseasesconsultationresponses@dh.gsi.gov.uk

post to Sarah Bramley-Harker, Department of Health, Screening and Specialised Services Team, Room 5W35, Quarry House, Quarry Hill, Leeds, LS2 7UE

contact your politicians– give them real examples of what you need to see in your area. What will make a difference to their constituents? Remind them that, collectively, rare diseases are not rare and that, since services are patchy and poorly integrated, patients and families can struggle to get the help and support they need.

contact NIRDP– if there are particuar points you want to be sure the NIRDP response also includes, contact us: info@nirdp.org.uk, phone 0800 917 0222 and talk to Sarah McCandless, or post to 6 Ava Crescent, Belfast, BT7 3DU.