While you sleep, Lucia…

We have received this beautiful and touching piece written in 2015 by Gillian Cassidy, Founder of 22q11 Northern Ireland and mother to Lucia.

Thank you for sharing Gillian.

#be22qaware #22qawarenessdays
 

WHILE YOU SLEEP, LUCIA…

How many hours in a hospital chair with you?
How many worrying thoughts?
How many painful tears will you cry?

The rain beats against the window
The many drops can’t compare to the moments of concern for you.

Watching your body tied to wires due to underlying missing genes
Ties me up with resolution to make your journey count

The years you had no voice, no words
Seemed to have created in me the need to initially be your voice then the voice of change.
The voice of advocacy.

The recounted medical history underlines just how many bodily systems are affected.
It brings to the forefront how much you deal with yet how normal you think it all is.

Your dada and siblings at home spending hours without us.
The updates to worried family and friends.

When did an ever ready hospital bag become the norm?
When did you become adapt at reassuring your 3 year old sister you would be home in a “minute of little time”?
When did your 2 year old brother start begging “I want you”?

Right now as you sleep in this hospital bed.
Right now the photos of you are your words
Right now people know about 22q because of you.
Right now is counting for something
Right now you are changing the world.

When I ask them if they know about 22q it’s not a idil question.
It’s me wanting to start a revolution, for you and all those like you.

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Joint North South Rare Disease Conference: 5 March 2018

 

We are busy finalising the Programme for this, the Fourth Joint North South Rare Disease Conference. There are still some details to sort out, but see below  for the latest version.

Programme

09.00 – 10.15               REGISTRATION AND COFFEE

10.15 – 10.30               Welcome  and Introductions

Fiona McLaughlin, Chair NIRDP & Philip Watt, Chair MRCG

10.30 – 10.45              “Nothing about us without us”

Les Allamby, Chief Commissioner, NIHRC

10.45 – 11.30               Rare Disease and the Strategies

Dr Michael McBride, Chief Medical Officer, DoH (NI)

Another Speaker TBC

11.30 – 12.30               Participating in Research

Dr Maurice O’Kane, NI Clinical Research Network

Dr Claire Lundy, Regional Paediatric Neurodisability Service

Another Speaker TBC

12.30 – 13.30               LUNCH

Poster Competition:    “Nothing About Us Without Us” (see below)

Side Event – Northern Ireland Human Rights Commission

13.30 – 14.15               Panel Discussion – BUILDING CAPACITY

Chair – Mary Hinds, PHA

Panellists to include: Derrick Mitchell, IPPOSI; Gemma McKillen, EUPATI;  Julie Power, VIA,

 

14.15 – 15.15               WHAT DOES SUCCESS LOOK LIKE?

100k Genomes Programme – Dr AJ McKnight

The 22 Q Journey: Anne Lawlor, Chairperson 22q11 Ireland         Support Group; Dr Tabib Dabir, BHSCT; Gillian Cassidy, 22Q Support Group Dr Mary Dallas, PHA

22 Q Video

15.15 – 15.30               COFFEE BREAK

15.30 – 16.15               Panel Discussion – BEYOND THE STRATEGIES: NEXT STEPS

Chair – Professor Ian Young

Dr Avril Kennan, MRCG

Philip Watt, MRCG

Anne Lawlor, Chairperson 22q11 Ireland Support Group

2 Members TBC

16.15 – 16.30               PRESENTATION OF POSTER COMPETION PRIZES & NIRDP AWARDS

Fiona McLaughlin, Philip Watt & Professor Ian Young

16.30                           CLOSE – Philip Watt

Register NOW to be sure of your place!

Note:  There is a Poster Competition: the Topic,  is “Nothing about us without us” tying in with the Rare Disease Day Theme of  “Research: Patients are not only subjects but also proactive actors in research”https://www.rarediseaseday.org/page/news/the-theme-for-rare-disease-day-2018-is

The Competition (with prizes!)  aims to showcase examples of research, academic, clinical, social where patients and families were engaged and  involved; what difference it made; and what is happening now and into the future.  So if you or your organisation have worked with rare disease patients, families and carers to do any research, surveys, etc which  are being used or could be used to influence and shape treatments,  care and services for people with rare disease, send a short abstract to rarediseaseday2018@health-ni.gov.uk ,  with POSTER COMPETITION in the Subject line, by Friday 23 February.  Posters must be A0 size Portrait, and brought to Riddell Hall on the day by 9.00am on 5 March 2018 for display.

 

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EVENT 29 JANUARY: A Rare Disease Registry for NI, Riddel Hall

Improving Rare Disease Education and Information

Riddel Hall, Belfast, 29th Jan 2018

Join us for our next big event in Riddle Hall on Monday 29th January where we will discuss how recent developments have led to unique opportunities for individuals living and working with rare diseases in Northern Ireland.

Two priorities from the NI rare disease implementation plan include:

(1) Developing a rare disease registry, and

(2) Improving education / access to information resources in NI

To help progress these rare disease priorities, a series of short talks will be followed by facilitated discussions to identify targets for rare disease progress in NI, alongside barriers and strengths for implementation.

This event is designed in two halves so individuals are welcome to attend any of all of the following sessions:

a) Morning session (9.30 am – 1.15 pm) focused on developing a rare disease registry for NI.

b) Afternoon session (2.15 pm – 5 pm) focused on improving educational and information resources for rare diseases.

c) All day – lunch provided; we welcome everyone’s input as much as possible!

We encourage you to book your space today via the link below as registry will be closing soon.

https://rd_registry_info_2018.eventbrite.ie

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Rare Disease Information Survey: We Want Your Feedback!

Hello all!

Can we ask you to take a moment to participate in, or share our survey?

This survey is to help evaluate public awareness of rare diseases, alongside related information and educational resources available for patients, their families, and healthcare professionals in Northern Ireland.

This particular survey is aimed at individual or collaborative groups (this includes a voluntary group, support group, charity etc) and is being conducted as part of the evaluation phase of key priorities for action in the NI Rare Diseases Implementation Plan. Results from this survey will be collated anonymously and used to help improve the accessibility of resources and addressing the needs of individuals affected by rare disease(s) in Northern Ireland. We know many groups have fabulous information resources and are keen to locate existing resources, as well as identify gaps where the development of further resources would be appropriate.

Please do indicate if you are happy to be contacted (which will be addressed in question 4) should there be follow-up questions. We appreciate and welcome your input to this evaluation.

If you wish to provide further details and / or have any questions about this survey, please contact julie.mcmullan@qub.ac.uk using ‘Survey groups’ in the subject line.

It is not essential to answer every question! Complete survey data is most useful to us, but we understand you may not wish to disclose (or have time to complete) some information – please feel free to skip over any such question(s).

https://www.smartsurvey.co.uk/s/RD_Groups/

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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

 


 

 

 

 

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