New research on Batten Disease CLN3
New research on Batten Disease CLN3 has been published as an Open Access article in Acta Neuropathologica Communications. New research on Batten Disease CLN3 has been published as an Open Access article in Acta Neuropathologica Communications. “Glial cell are functionally impaired in juvenile neuronal ceroid liipofuscinosis and detrimental to neurons” Download Here
The research was led by the Saoirse Foundation as the primary funder with support from the Health Research Board.
Planning Permission Granted for Liam’s Lodge – 28 September 2017
This week, An Bord Pleanla upheld the Planning permission granted by Kerry County Council to allow the construction of Liam’s Lodge. Liam’s Lodge will be a new national respite centre for children with complex needs, genetic, rare & life limiting disorders in Curragraigue, Blennerville, Co Kerry.
Speaking today Tony Heffernan the CEO of the Saoirse Foundation said; “We are thrilled that planning permission for Liam’s Lodge has finally been granted. We are really eager now to get this facility up and running as quickly as we can because we know just much a facility like this is needed. We aim to staff Liam’s lodge with loving care givers who will provide the best of care to our special guests allowing Mom and Dad and healthy siblings to take a break, relax and spend some quality time with their family in a quiet, nurturing environment. We have personal experience of the challenges that caring for a seriously ill child with complex needs can pose for the whole family and we know how much this kind of respite care is really needed.”
Emergency Services Weekend – 8-10 September 2017, organized by Frontline Emergency and Security Services Eire Forum (FESSEF)
Frontline Emergency and Security Services Eire Forum (FESSEF) is a voluntary non-profit organisation formed to promote the communication, co-operation and friendship among the personnel of the National Security and Emergency Services. FESSEF aims to heighten the public’s awareness of the role played by the security and emergency services in protecting the safety and security of the citizens of the state. The Forum showcases the specialist skills, expertise, drills, and tactical equipment used by the service personnel in the performance of their duties.
As a member of the FESSEF, BUMBLEance will be taking part in the Emergency Services Weekend 8-10 September 2017. Highlights:
• Friday September 8: Concert showcasing the massed bands of the emergency services at Dublin’s Pro Cathedral. Proceeds to charities: Tickets €35.
• Saturday September 9:
o The parade will commence at 12 midday from Parnell Square to Trinity College via O’Connell Street. This is a great opportunity for all the family to see the bands, vehicles and personnel of Ireland’s emergency and security services.
o The main courtyard of Trinity College will be open to the public from 11:00-16:00, to showcase the services’ equipment and capabilities. The public can get up close and personal with each of the services – free of charge.
o You are invited to visit the BUMBLEance stall.
o Saturday’s celebrations will culminate with the annual Gala Dinner in Trinity College Dublin, preceded by a musical tattoo. Tickets €50 in limited supply, though the FESSEF Committee.
• Sunday September 10: A BBQ for services personnel and their families will be hosted by the FESSEF Committee.
The Saoirse Foundation – 6th Birthday Today, 31 March 2016
The Saoirse Foundation – 6th Birthday Today – 31 MARCH 2016 – IT’S TIME TO CELEBRATE!! The Saoirse Foundation is SIX YEARS OLD today. We cannot believe how time has flown by:
• 6 years of supporting critically ill children nationwide
• 6 years of fighting against Batten Disease
• 6 Years of supporting ground breaking research into rare diseases
• 6 years of developing and implementing BUMBLEance, The Children’s National Ambulance Service
• 6 years of developing plans for Liam’s Lodge – A National Respite Centre for children with Rare and Genetic Disorders
• 6 years of strategic planning in order to provide top level support to future generations of Ireland’s most ill and vulnerable children
On our 6th birthday, we take time to reflect and to say a massive THANK YOU to all of our wonderful supporters. We could not do any of the above without your help. THANK YOU to our amazing sponsors, supporters, loyal followers, families and friends. You have very kindly provided us with vital, ongoing support and without you we would not be able to do the work that we do. Your contribution has provided a life line for so many families in crisis nationwide and we appreciate every single effort that you have made on their behalf. Thank You for enabling us to keep on SUPPORTING SICK CHILDREN throughout Ireland. TODAY WE CELEBRATE YOU and we are very much looking forward to working together with you as we reach new and exciting heights.
We are also taking this moment to remember our very special Little Angels who have grown their Angel Wings over the past 6 years. They are the reason why we want to expand and improve our services. We know that these special Little Angels are watching over us and their families daily and we will remember them always. We work hard to help children and families in need of vital support and Ireland’s ill children are the reason that we keep on fighting – these children inspire us every single day. Happy Birthday to The Saoirse Foundation! Thank You to each and every one of you for your ongoing, loyal and treasured support.
HAPPY BIRTHDAY SAOIRSE FOUNDATION
Bees! A Musical, competition winners
Thanks to our friends at The Ark, we received two family tickets to give away for BEES! A Musical. These tickets were given away as part of a competition on our BUMBLEance Facebook page . BEES! A Musical is a show for Ages 6+ filled with buzzing and songs, dancing and flying. Oh, and you’ll learn lots of important things about bees along the way!
It tells the story of Mel, a honeybee. Mel was left behind by her colony and she doesn’t even know how to be a bee. On the journey to find her home, she has some amazing adventures and meets some new friends. She learns everything she needs to live as a bee, as well as the value of true friendship.
BEES! promises to be an enjoyable experience for all. They even provide Signed and Autism friendly performances so everyone is included. We hope you’ll sing along and learn a little something about Bees along the way.
We would like to congratulate our winners, Jen Tierney and Linda Poynton Fitzgerald. We hope you enjoy the show, and come out BUZZING! And to those who have not won tickets, there is still time to book a date. The show runs from 13 February until 13 March and is definitely worth the watch. So please support The Ark and BEES! The Musical. It is a fun and exciting experience that you won’t want to miss.
Adam’s 1st Birthday on BUMBLEance
October 20th 2015 was Adam’s first birthday. It was unfortunate that he had to make a journey to Temple Street Children’s Hospital for an appointment, but at least he made it in style on board the BUMBLEance. The family and the BUMBLEance crew made a big fuss of Adam, but they also made a stop at the local school, Clonpriest NS, Gortroe, Co. Cork. The children at the school were delighted to see the BUMBLEance and wished Adam well as they and the teachers at the school make huge fundraising efforts for the BUMBLEance charity which helps Adam and his family to make the fun trips to Dublin as safely and comfortably as possible.
Web Information for Families of Children with Rare Diseases – Parent to Parent Support
As a follow-on from the 2014 study Web Information for Families of Children with Rare Diseases, the Saoirse Foundation is pleased to announce an addition to the proposed website of parents of children with rare conditions. The addition is the development of the website’s parent to parent support, a recommendation from parents who took part in last year’s study. The forthcoming study will investigate what parents of a child with a rare condition would like an online parent-to-parent support platform to contain/provide. Parents of children with a rare condition are invited to take part in one of the focus group interviews.
This study will be conducted with researchers in the School of Nursing and Midwifery, Trinity College Dublin in collaboration with the Saoirse Foundation. Led by Dr Honor Nicholl, the study will involve focus group interviews, and is kindly funded by the Irish Research Council.
Focus groups will be held in the following locations (venues to be confirmed):
– Dublin 15th June
– Tullamore 17th June
– Galway 23rd June
– Cork 25th June
Note: A payment of up to €40 will be given to assist you in travel expenses, and light refreshments will be available at the venue. If you would like further information or if you would be interested in taking part in the focus group, please contact Dr Catherine Tracey by email: email@example.com or Dr Aileen Lynch by telephone: 01 896 8571 and they would be delighted to speak to you further.
8th Annual Rare Disease Day – February 28, 2015
The Saoirse Foundation proudly supports Rare Disease Day, established to raise awareness with the public about rare diseases. The 8th annual World Rare Disease Day will be held on Saturday, February 28, 2015, and will focus on the day to day lives of patients living with a rare disease, their families and caregivers. What has now become an annual event, Rare Disease Day also aims is to raise awareness for rare diseases, promote medical research activities and improve access to medical treatment. As part of Rare Disease Day here in Ireland, patient organisations are holding public information days and conferences. Also, the Medical Research Charities Group (MRCG), an umbrella group of medical research and patient support charities, is holding an event at the Alexander Hotel on Friday 27th of February to mark the occasion.
Needs Assessment & Feasibility Analysis
Honor Nicholl, a registered children’s nurse and Assistant Professor in the School of Nursing and Midwifery in Trinity College Dublin (TCD), along with some of her colleagues, are currently undertaking a needs assessment and feasibility analysis for a national centre encompassing a respite care unit for children with rare conditions and hospice type services for children in Munster and the Mid-West.
The forthcoming study will investigate the need for a national centre that will provide (i) respite for children with rare and genetic conditions and (ii) hospice type services for children who will use this service in Munster and the Mid-West. This study will be conducted with researchers based in the School of Nursing and Midwifery at Trinity College Dublin and will be led by Dr Honor Nicholl.
There will be two parts to the study and we are inviting you to participate in either part:
a. The first part is where parents of a child with a rare condition, healthcare professionals, voluntary and statutory services involved in the care of children with rare conditions, are invited to take part in a focus group interview. The focus group will take place on 5th March in Fels Point Hotel (Dan Spring Rd, Tralee, Co. Kerry) at 12pm.
b. The second part involves a telephone interview where parents of a child with a rare condition, healthcare professionals, voluntary and statutory services involved in the care of children with rare conditions are invited to take part in a telephone interview which will last about 20 minutes. The telephone interviews will take place from 2nd to 13th March.
If you would like further information or if you would be interested in taking part in either the focus group or telephone interview, please contact Dr Aileen Lynch in the first instance.
Aileen can be contacted either by telephone: (01) 896 8571 or email: firstname.lastname@example.org and she would be delighted to speak to you further.
Potentially Great News For Children With Batten Disease
On the 12th of January 2015, BioMarin provided preliminary data from an on-going Phase 1/2 Pivotal Study of BMN 190 for treatment of CLN2 disorder, a Form of Batten Disease. Preliminary results show evidence of disease stabilization.
The pivotal study for BMN 190 (cerliponase alfa), a recombinant human tripeptidyl peptidase 1 to treat patients with late infantile CLN2 disease, a form of Batten Disease. Interim data indicates that in all nine of the BMN 190 patients who have been followed for at least six months and up to 15 months, the treatment appears to show stabilization of the disease compared to the natural history based on a standardized measure of motor and language function.
Click here to read the full article.
Tony & Mary Heffernan Honoured 2014 RTE People Of The Year Awards
Mary and Tony Heffernan were awarded an RTE People of the Year Award for their selfless dedication and commitment to helping the families of sick children. Mary and Tony dedicated their lives to caring for their children Saoirse and Liam, both of whom suffered from Batten Disease. The disease is a rare, life-limiting, neuro-degenerative condition and very little information or support was available to the Heffernan family when Saoirse was diagnosed in 2009. It was this experience and their determination that no other parents would be treated in the same manner that inspired Mary and Tony to establish The Saoirse Foundation in 2010. The charity, named after their daughter, is pro-active in patient support, advocacy and the promotion of awareness about rare and genetic disorders, and provides specialised transportation services for sick children.
Currently, The Saoirse Foundation is actively operating three projects: Bee for Batten’s, Liam’s Lodge and the BUMBLEance. The BUMBLEance is a children’s ambulance service that provides stress-reduced journeys for sick children and their families to and from their care centres. Liam’s Lodge, named after Liam Heffernan, will be Ireland’s first respite centre for families of children with rare diseases and is planned for completion towards the end of 2018. It will also serve as a children’s hospice for the families in the south and mid-west of country. Saoirse passed away in 2011, and Liam in May 2014. Both children were aged five and passed away in their parents’ arms. Despite their own personal tragedies, the Heffernans have worked tirelessly to help families of children, especially those with rare and complex conditions.