Page not found – Northern Ireland Rare Disease Partnership https://nirdp.org.uk Thu, 28 Mar 2024 16:58:01 +0000 en-GB hourly 1 https://wordpress.org/?v=5.8 Foyle & North West Rare Disease Forum Mayors Reception March 2024 https://nirdp.org.uk/derry-londonderry-rare-disease-event/ Thu, 07 Mar 2024 08:52:00 +0000 https://dev.nirdp.org.uk/?p=3011

The Northern Ireland Rare Disease Partnership is delighted to announce a special Mayoral reception in honour of Rare Disease Day 2024, taking place on the 27th of March at the Guildhall in Derry/Londonderry. This notable event will convene influential members from the Northern Ireland Rare Disease Partnership (NIRDP), including Sandra Campbell Volunteer/Coordinator Foyle Rare Disease Forum, Rosaline Callaghan Development officer and Caroline McFerran Community Navigator, as well as rare disease patients, carers, and service-users from the Northwest of Northern Ireland.  Such as Oran and Mum Brenda who kindly shared there rare story – A journey with Porphyria – A rare genetic disorder meaning that Oran can not go out in natural light’

The reception is pivotal in elevating the conversation and action around the needs of the approximately 110,000 individuals in Northern Ireland who are living with a rare disease. It underscores the importance of community, healthcare providers, and policymakers coming together to support and advocate for those facing the challenges of a rare disease.

This year’s event is also marked by the recognition of the newly formed Rare Disease student society at the University of Ulster, in Derry/Londonderry Campus, the first of its kind in a Medical School in the UK or Ireland. This initiative illustrates the growing awareness and involvement of younger generations in the rare disease community. Additionally, the reception will highlight the efforts of local MLA Mark Durkan, who chairs the Northern Ireland Rare Disease All-Party Group, further emphasizing the critical role of political leadership in advancing the cause of rare disease patients.

Patrick Toland, CEO of the Northern Ireland Rare Disease Partnership, commented on the upcoming reception, saying, @This event at the Guildhall is a powerful statement of unity and hope for the rare disease community in Northern Ireland. It exemplifies our collective commitment to shining a light on the challenges and triumphs of those living with rare diseases. Together, we are making strides towards a future of greater understanding and support.'”

The event promises to be a significant milestone in fostering greater understanding, support, and advocacy for rare disease patients and their families in Northern Ireland and beyond. Through collective efforts, awareness, and determination, we can achieve meaningful improvements in the lives of those affected by rare diseases.

About the Northern Ireland Rare Disease Partnership (NIRDP): The NIRDP plays an essential role in advocating for and supporting individuals and families affected by rare diseases across Northern Ireland. By working collaboratively with healthcare professionals, researchers, and policymakers, the NIRDP strives to enhance care and quality of life for those living with rare diseases.

For more information, support or images of the event, please contact info@nirdp.org.uk

]]>
Understanding Rare -Education & Upskilling Programme. https://nirdp.org.uk/living-well-with/ Wed, 06 Mar 2024 23:32:00 +0000 https://dev.nirdp.org.uk/?p=3478

We at the Northern Ireland Rare Disease Partnership (NIRDP) are thrilled to introduce our newly devised education and upskilling programme, “Understanding Rare”. This initiative is designed to foster a deeper understanding and empathy towards the unique needs of the 1 in 17/110K individuals (many of which are children) living with rare diseases or conditions in Northern Ireland, and many of whom experience acute mental health/financial/work/housing or isolation needs alongside carers or family members who are also experiencing these challenges. 

We understand that mental health providers and Helplines NI (of which we are also a member) play a pivotal role in offering support and guidance to these individuals. Therefore, we have crafted a free 1.5-hour remote learning Continuing Professional Development (CPD) session that aims to equip mental health or helpline and support staff with the necessary knowledge and skills to address their needs more effectively.

Through this short programme, participants will be better prepared to:

  • Understand the complex needs of those with rare diseases in our community.
  • Empathise with their unique challenges and experiences through the sharing of Rare Stories
  • Signpost more successfully to organisations like the NIRDP or other rare condition organisations, facilitating a network of comprehensive support.

We are pleased to inform you that this initiative is generously funded by the Community Foundation/DOH in Northern Ireland, a testament to the significance and potential impact of this programme. We kindly then encourage you to share this invaluable opportunity with your staff, colleagues, and those in your organisation responsible for supporting CPD initiatives. For further information or to express your interest, please do not hesitate to contact us directly or share this email with colleagues within or beyond your own organisation that may find this matter of interest, especially in training or HR departments. 

Our next session is Friday April 19th -10.30 – 12

February 15th 10am – 11.30am  

To register email: Info@nirdp.org.uk 

]]>
Rare Disease Day 2024 https://nirdp.org.uk/join-us-in-raising-rare-disease-awareness-host-a-rari-tea-event/ Tue, 20 Feb 2024 18:12:00 +0000 https://dev.nirdp.org.uk/?p=2291  
We’re delighted to announce Rare Disease Day 2024 Annual North and South Conference 

Looking to the future for Rare Disease 

A conference to bring together people living with rare disease, advocates, care providers, policy makers and industry to learn and debate what the future holds for people living with rare disease. 

Date Rare Disease Day February 29th 2024

Venue: Farmleigh House, Phoenix Park Dublin 

 We invite you to join our annual North-South #RareDiseaseDay conference live online on Thurs, 29 Feb. The conference is running 9.45am to 5pm – join for as much or as little as you can.

Registration required – via zoom: Webinar Registration – Zoom
]]>
Supporting Children and Families living with Rare Diseases in NI https://nirdp.org.uk/stronger-together-project-starts-work/ Sat, 02 Dec 2023 10:30:00 +0000 https://dev.nirdp.org.uk/?p=1506  

Rare Conditions Conference in Dungannon, we would like to extend our gratitude to all of the families and professionals who joined us at the conference. Contact – For families with disabled children NI for making this event possible, as well as our wonderful speakers including Anne-Marie and Claire O’Hanlon.

Join Contact NI and NI Rare Disease Partnership as we explore ways to support families through conversations, connections and collaboration. Find out more about what support is available, meet other parents and practitioners and have an opportunity to share your experiences.

Please direct any enquiries relating to your booking to training.admin@contact.org.uk.

For further info and support from Contact, please email info@contact.org.uk or see www.contact.org.uk.

Register here: Supporting Children and Families living with Rare Diseases in NI Tickets, Wed 24 Jan 2024 at 09:30 | Eventbrite

]]>
The Virtual Support Hub Team Community Outreach https://nirdp.org.uk/virtual-support-hub/ Sun, 01 Oct 2023 13:38:00 +0000 https://dev.nirdp.org.uk/?p=3438 The Virtual Support Hub will be getting out and about across the country to say hello!

Join us on: 

Information and Support Day in Newry- Family Fund
Come along to meet our friendly team on Wednesday 11 October in Newry Leisure Centre. You can find out how you can access our support services and grants and we’ll also be joined by representatives from a range of other local organisations and national charities who offer family support services too.
 Newry Leisure Centre, 60 Cecil Street, Newry, Co. Down, Northern Ireland, BT35 6AU
Drop in anytime between 10:30am and 2:30pm

Transition – Opportunities Fair -Event by Contact – For Families with disabled children NI

Thursday May 11th – 10.30am – 3pm Venue: Balmoral Hotel, Blacks Road, Belfast BT10 0NF

Are you a parent carer of a young person with additional learning needs?
Do you have questions about what options are available once they leave full time education?
Come along to see what opportunities there may be for you.
Meet organisations that can help and support you, and gain information and advice on what is available once your young person leaves school.
Refreshments will be available.
An accessible quiet room will available.
You can be entered in to our free prize draw

Carer Hub- Information Event

Tuesday June 6th Coleraine Lodge Hotel 10.30am 

Information fair for informal, unpaid family carers on Carers Week (5-13 June).

Wednesday 19th October 10:30am to 2:30pm Fermanagh Devenish Room, Fermanagh Lakeland Forum 

Thursday 20 October 10:30am to 2:30pm-  Omagh Leisure Complex . 

NIRDP will will be attending – Family Fund Support & Information session in October.
Come along and meet Family Fund and other local and national charities.

Wednesday 24th August in the Tower Centre Ballymena from 11am.

Wednesday 29th June Carrickfergus in the Decourcy Shopping Centre from 11am 

Wednesday 1st June Larne main street from 10am 

Call in and speak to the NIRDP Team, we support any individuals, family members, carers, friends or even health professionals living or working with rare conditions in Northern Ireland.

  • Information to support diagnosis
  • Emotional support/a listening ear
  • Connections to support organisation in the rare disease community
  • Benefit advice/Funding information
  • Access to mental health services
  • Practical support

No matter the query, reach out!  Or contact us:  Email info@nirdp.org.uk   07704476929

]]>
Ulster University RARE DISEASES SOCIETY https://nirdp.org.uk/3416-2/ Thu, 06 Apr 2023 15:31:00 +0000 https://dev.nirdp.org.uk/?p=3416 Exciting news the first ever Ulster University Rare Disease Society Event, took place on December 4th 2023. We would like to extend our gratitude to the outstanding members of the UU Rare Disease Society and Sandra Campbell Lecturer and Rare Disease Advocate, as well as all the speakers who made our first-ever event a huge success.

Thank you Dr Shane McKee Clinical Lead, Genetic Medicine for sharing your professional career and research experience, to Anne Marie O’Loan for sharing her experience and knowledge of PKU.

Final speaker this afternoon is Carol Bratton educating us about POTS and EDS.

Patricia Harris Director of Education in a UK Medical School.

Rare Disease Student Society aiming to spread awareness on rare metabolic diseases and raise money for our partnered charity, the Northern Ireland Rare Disease Partnership (NIRDP).

Social Media page below:

Rare Disease Society UU (@uurdsoc) • Instagram photos and videos

]]>
Rare disease Films Raising Greater Awareness https://nirdp.org.uk/123-2/ Mon, 06 Feb 2023 15:26:00 +0000 https://dev.nirdp.org.uk/?p=4193 By Niall McCrackenBBC News NI

People with rare diseases in Northern Ireland have been sharing their stories through a series of short films.

There are more than 7,000 known rare conditions worldwide.

It is estimated that more than 110,000 people, or one in 17, are impacted by rare conditions in Northern Ireland.

The Rare Stories project explores a wide range of issues from difficulties in getting diagnosed to tackling stereotypes.

Rare diseases

  • 7,000known rare conditions worldwide
  • 1 in 17will be affected by a rare disease
  • 110,000 impacted by rare conditions in NI

Source: NIRDP

It was created by the Northern Ireland Rare Disease Partnership (NIRDP).

The organisation’s chief executive, Patrick Toland, said: “The Rare Stories project is a testament to the resilience and strength of the rare disease community in Northern Ireland.

“We are sharing these emotive and educational stories.”

‘We have each other’

County Antrim-born twins Lucy Smyth and Zoe Buxton live with a condition considered among the rarest in the world.

At a young age they were diagnosed with Fibrodysplasia Ossificans Progressiva (FOP).

It causes the body’s soft tissue to gradually turn to bone, creating a second skeleton that can immobilise them.

It affects about one in two million people worldwide.

Lucy and Zoe are thought to be one of only three sets of twins worldwide who have the debilitating condition.

They both contributed to the Rare Stories project by featuring in a short film.

When I met them both at Zoe’s home in Cloughmills, County Antrim, their close bond was obvious.

Zoe told me: “I’m so grateful to have Lucy, she understands what I’m going through. She can drive me mad, but we have each other.”

Responding with a smile, Lucy added: “We even had a bit of an argument just before you arrived, but it never lasts long, we’re friends again.”

For Lucy and Zoe, their every day lives are impacted by their rare disease.

“Whenever we bump our muscles, a mass grows and as we grow older and the condition progresses, you’re like a human statue,” said Zoe.

“I can’t do things like put my own socks on or brush my hair or anything like that, so obviously I have to depend on other people to do that, so it is quite tough,” Lucy explained.

Lucy and Zoe said they were sharing their story as part of the project to address the stigma that still surrounds rare diseases.

“It’s really important because people just don’t know enough about rare diseases and that sometimes goes for medical professionals as well,” Zoe said.

Lucy continued: “We’ve had times when we’ve needed hospital treatment and we tell them about our medical condition, and they just don’t know anything about it.”

Improve lives

Each region of the UK has developed action plans to improve the lives of people living with rare diseases.

To view the article link below:

The rare disease films raising greater awareness – BBC News

]]>
Derry woman living with rare condition working to raise awareness! https://nirdp.org.uk/rare-disease-day-city-hall-2021/ Fri, 03 Feb 2023 15:26:56 +0000 https://dev.nirdp.org.uk/?p=3429  

The condition is more unusual as it is geographically specific; all those diagnosed have familial connection to NW Donegal

Derry woman, Rosaline Callaghan, was diagnosed in 2019, with the rare condition known as hereditary amyloidosis. It is a condition geographically specific to North West Donegal.

Rosaline chats to Derry News about her condition, the support she has received from The Northern Ireland Rare Disease Partnership (NIRDP) and living with a rare diagnosis.

“In the rare disease community; the names of the conditions are so unheard of and so complicated that it is often difficult for those living with rare conditions to really explain to people what their life is actually like,” Rosaline explained. 

“If you say you have cancer, it is a well-known disease. It is awful but people know how to react. When you say you have a rare disease, people give you a blank look and rightly so; they don’t know what to say.

“Outside friends and family, you have the added challenge of explaining to the general population.”

Rosaline’s condition is called hereditary amyloidosis. The condition originates from a 15 mile coastline in Donegal. Rosaline desrcibes it as a “ravaging condition” and it is only in recent years that treatment has become available, “I am the first in my family to receive treatment due to incredible scientific breakthroughs,” Rosaline continued. “There is now medication that slows down the often rapid progression of the condition.”

Rosaline was diagnosed with hereditary amyloidosis – Donegal Amy for short- in October of 2019. 

People with hereditary ATTR amyloidosis carry mutations in the TTR gene. This means their bodies produce abnormal TTR proteins throughout their lives, which can form amyloid deposits. These usually affect the nerves or the heart, or both.

“Receiving a diagnosis, especially of a rare condition, can be so terrifying and exhausting, and quite stressful. You go from being a healthy person to navigating a whole new landscape. 

“I am fortunate enough to have received incredible support from the NIRDP. There is also a Facebook Support Group which was an amazing help as when you are diagnosed it can be a very lonely place.

“When I found the NIRDP, it was the first glimmer of hope and light in the tunnel. I contacted Sandra and the rest is history.”

Rosaline now works for NIRDP part-time advocating for those who live with her condition and other rare diseases, “They do so much amazing work and we have lots of work still to do. We want to connect, educate and raise awareness for the rare disease community.

“With my condition, the dream and end goal is to continue to raise awareness of this condition and in turn- early diagnosis. I want to advocate for genetic testing. Currently, it takes around five years to be diagnosed. However, if people were diagnosed sooner and received treatment earlier on in the process; it would be so much better for their quality of life.”

Donegal Amy is all the more unusual as it is geographically specific; all of those diagnosed have familial connection to the North West of Donegal. People are diagnosed all across the world but whenever they trace their ancestors; they always have connections to the area. In the 1980s a cluster of people were diagnosed. Rosaline’s auntie was the first person to have a recorded diagnosis. 

“Rosaline added: “My family throughout the years have been diagnosed. It is a late onset condition and people usually start to show signs around the age of 50. It has similar symptoms to Motor Neuron Disease (MND). It is slow, relentless and progressive. There are only a few thousand people in the world with this condition, but we are helping each other through it. 

“It can be very isolating and confusing when a diagnosis of Amyloidosis is made within the family, especially for the first time- but there is support available.

“I will keep advocating for the community and all of those living with a rare condition. You are not alone.”

1 in 17 people in Northern Ireland are living with a rare disease with an estimated 110,000 diagnoses across the country.

If you, like Rosaline are living with hereditary amyloidosis, you can contact Rosaline via: irishrosaline@gmail.com

Rosaline also released a book about her condition called ‘Donegal Amy’ which is available via: https://wildstoryteller.com/product/donegal-amy

You can also join the support group via Facebook: ATTR Amyloidosis All Ireland Support Group

You can also contact Northern Ireland Rare Disease Partnership for support, information and advice. 

 

 

Rosaline published a book about her condition.

]]>
‘Biggest Loser’ Campaign in memory of Glenarm’s 5-year-old Maggie https://nirdp.org.uk/biggest-loser-campaign-in-memory-of-glenarms-5-year-old-maggie/ Fri, 03 Feb 2023 15:10:24 +0000 https://dev.nirdp.org.uk/?p=4202 A ‘Biggest Loser’ Campaign which was held in Carnlough, in memory of young Maggie who tragically passed away in December 2021 from an undiagnosed rare condition – Addison’s Disease – has raised over £14,000 for Rare Disease Charities.  

The Biggest Loser Campaign organised by Seamus Lee of Total Training in Carnlough,  involved 60 amazing people in 6 teams signing up to get active, lose weight and raise funds over 8 weeks to support charities chosen by the Black Family – Addison’s Disease Self Help Group (ADSHG) and the Northern Ireland Rare Disease Partnership (NIRDP).   

The six teams all chose team names of things that young Maggie had loved:  Maggie’s Magpies; Dancing Daisies; Tik Tok Diva’s; Magical Rainbows; Marshmallows; and Maggie’s Flock.  The teams all signed up to participating in 2 gym sessions per week, 4 group walks at the Ecos Centre, Ballymena; Ronan’s Way, Cushendun; The Lakes, Carnlough; Glenariff Forest Park, Waterfoot (walking a combined 1320 km in total) and competing in Scavenger Hunts, School Sports Days, Calorie burns plus Strength and Endurance challenges.  

Not content with the challenges alone the teams also signed up to organise fundraising activities – too many to mention all – but including Seamus Lee himself carrying a 100kg yoke for 5 kilometres; an ‘Orange week’ at Emma McDermott Hair Carnlough;  Carnlough Art Society donating funds from an Art Exhibition and culminating in a very grand Masquerade Ball.   

Over the 8 week period an amazing 66st 5lb of weight was lost combined with the ‘Individual Biggest Loser’ Gary Patterson losing an amazing 29lbs and a stupendous £14,086 was raised for the Addison’s Disease Self Help Group and the Northern Ireland Rare Disease Partnership.   

Sheenagh Black, Maggie’s mother has said “We are so thankful that the Biggest Loser Challenge was organised in memory of our wee daughter Maggie.  We have been so touched by all the little things included to remember Maggie throughout the Challenge – such as the names of the teams and the ‘Orange Week’ at the hair salon – orange was our Maggie’s favourite colour.  We have been overwhelmed by the funds that have been raised and are thankful that we will be able to help people affected by Rare Disease as a result. It really is a huge comfort that this campaign in memory of Maggie will help others”.  

Patrick Toland CEO of Northern Ireland Rare Disease Partnership (NIRDP) said: “On behalf of Northern Ireland Rare Disease Partnership a huge thank you to Seamus Lee and all the participants in the Biggest Loser Challenge and of course once again to Sheenagh Black and her family for nominating NIRDP alongside the Addison’s Disease Self Help Group to benefit. Every penny raised will be used to further the NIRDP vision and provide support to the “rare disease” community.” 

The Biggest Loser challenge continues on from the Black family’s campaign “Maggie’s Call” which lobbied that the fire and rescue services would respond to emergency calls in remote areas until the paramedics arrive on the scene.  This led to a pilot being agreed by the then Minister for Health, Robin Swann in Carnlough, which consequently has saved lives. Further to this the Black family, supported by their local communities, have raised thousands of pounds for the Air Ambulance, in recognition of the huge impact that this vital service has to play in supporting rural areas, and for the NIRDP to help raise awareness of Rare Conditions.  Money has also been raised for Ellie’s Retreat which is a charity offering free respite breaks for families who have suffered the loss of a child. 

The Northern Ireland Rare Disease Partnership would like to thank the Black family for considering others in this time of great loss.

]]>
Rare Disease Partnership celebrates 10th anniversary in Derry https://nirdp.org.uk/rare-disease-partnership-celebrates-10th-anniversary-in-derry/ Fri, 02 Dec 2022 06:22:00 +0000 https://dev.nirdp.org.uk/?p=4209

The Northern Ireland Rare Disease Partnership (NIRDP) charity recently celebrated its 10th anniversary in the Bishop’s Gate Hotel in Derry.

The celebration event, organised by Sandra Campbell and the North West Rare Disease Support Group, was a hopeful and positive gathering of: rare disease patients and carers; the charity founding members; the NIRDP Charity Board; NIRDP staff team; members of the All-Party Group on Rare Disease – MLAs Mark H Durkan, Maolíosa McHugh and Ciara Ferguson; Rare Disease Academics; and Health Sector colleagues who gathered to hear about the history of NIRDP – something which had started out as a little umbrella organisation and has today become such an important source of help to the 1 in 17 people across Northern Ireland affected by a rare condition or disease.

NIRDP works on a range of projects to advocate, connect, educate and innovate on behalf of the RD community. NIRDP provides a Rare Disease Virtual Support Hub (VSH) supporting those living with and those caring for people with often very challenging and complex medical needs. If you have any queries please contact the Rare Disease Virtual Support Hub on email info@nirdp.org.uk or telephone 0770 447 6929 or 0770 447 6930

To view the article click here: Rare Disease Partnership celebrates 10th anniversary in Derry | Derry Journal

]]>