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IT IS RARE Disease Day today, an event that aims to raise awareness of the many unusual diseases that can affect people around the world.
One Irish family that knows a lot about this subject is the Heffernans: parents Tony and Mary sadly lost their daughter Saoirse to Battens Disease in 2011 at age five.
Her brother, Liam, now five, was also diagnosed with Battens Disease aged two and has just outlived his sister Saoirse by one week.
Tony and Mary set up the Saoirse Foundation in their daughter’s honour and in the honour of those currently living with genetic and rare diseases in Ireland and beyond.
The charity aims to highlight Battens Disease through the Bee for Battens project, and also supports people living with other rare diseases around Ireland.
Rare diseases
There are over 7000 known rare diseases worldwide, and in Ireland, between 6 -8 per cent of the population will be affected by rare disease.
Up to 70 per cent of those affected are children, 30 per cent of whom will not live past the age of five.
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Tony Heffernan described National Rare Disease Day as “so important to keep the public aware of rare diseases affecting people from every parish in Ireland”.
These diseases can sometimes affect only one or two people in Ireland; however they still need attention and funding as much as the more common diseases. We will be marking National Rare Disease Day by spending the day with Liam as a family. This is what is important to us right now and nothing gives me more joy than spending time with Liam and Mary.
The Saoirse Foundation recently launched the BUMBLEance to transport sick children to and from their appointments.
The family also hope to open Liam’s Lodge, a dedicated respite centre, in Co Kerry. They will be lodging formal planning permission with Kerry County Council in March.
Testing children for rare diseases
Today, new genetic tests that will speed up diagnosis of rare diseases in children are being launched by researchers at Crumlin Children’s Hospital and University College Dublin (UCD).
The tests are also to help avoid the need for invasive procedures on children.
According to Dr Sally Ann Lynch, a Consultant Clinical Geneticist at Crumlin Hospital:
‘These new tests will make a genuine difference to the lives of babies and infants affected by a number of rare diseases including infant liver failure, anophthalmia, a condition where children are born with small or absent eyes, and a DNA repair disorder that causes debilitating endocrine and haematological illness.
Previously, infants may have had to undergo many months of complex investigations, but the results of these new blood-based tests will be available within four weeks.
The gene tests, which are available from the Molecular Genetics Laboratory at the National Centre for Medical Genetics in Crumlin, will also avoid the need for invasive procedures, like liver, muscle and skin biopsies.
They will benefit children and families, but will save the health service money as the tests will eliminate the need for surgical investigations, said the researchers.
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Stem cell legislation is desperately needed to investigate treatments for these little ones. They have done nothing wrong :( and normal medicine hasn’t a hope of treating them.
There are a lot of rare diseases in this country and because we have a small population doctors do not have the expertise in this country to deal with them. My daughter and I have eh lets danlos syndrome she is extremely unwell doctors here don’t know how to deal with here. There is a specialist clinic in london but hse won’t fund anyone to go under the treatment abroad scheme which is eu law as they insist it can be treated here. Meanwhile she is slowly dying and becoming disabled. The clinic in London say she needs to be treated there. If I pay it will cost thousands which I don’t have.
Try to start some fundraising, you will e surprised how generous people will be. There was the case were a cork mother of twins had to raise 40,000 to send her children to England and she raised the money through Facebook. HSE should of course be paying but they are more interested in their own salaries. There must be a number of charities out there that can send you in the right direction, best of luck, I can’t imagine the pain of having a sick child and receiving no help on top of that.
Aimee, as mad as it may sound, but you wouldn’t be a complete mess of no use to anyone. Speaking from experience re the loss of a child (though ours was a sudden loss to SUDC and not attributed to any disease), I believe that you just do what you have to. We often hear how people think we are so strong and brave in the face of all we have gone through. Truly, we’re just winging it but more so, we keep going because we have to. Life pulls you with it and your body and mind help you process your loss in your own time at your own pace…allowing you to keep going as you must.
If our son had been ill, it would have been a different kind of horrible but I think we’d have just battled on for him like any parent would…
Like these wonderful people have done everything in their power for both their children and continue to do so, so would you. Something just kicks in and gives you the strength you need. We don’t recognise our own strength until we are faced with that situation, I guess.
I really do hope they have a very good support network around them when the day comes this awful illness takes their second child. Going from caring for him and being undoubtedly very busy with him to all this suddenly stopping will be a shock to the system. (We lost our first and only at the time. Going from being a busy active parent to suddenly having way too much time on your hands again, was extremely hard.) You’re kept going through the days and few weeks after but there may come a time when suddenly the new idleness and silence may become overwhelming. Not an easy road ahead.
Sending them warmest wishes and a peaceful and enjoyable time with their second son…a little fighter.
Overall: Just not fair…so many horrible people growing to old age in this world and then this.
I also have ehlers danlos syndrome and we have no specialist care in this country. I am left with no choice but to fundraise for vital care in London that the hse does not cover with the treatment abroad scheme as it is a rare illness.
I have been told by doctors here they cannot treat me only manage my pain with morphine.
Raising awareness will help me and all patients with rarely illness to access the care we need to save our lives.
Hope the Heffernans have a lovely day spending time with Liam. The charity like many is struggling to keep going in the current climate. I have sent my text, hope my 4 euro helps.
Thank You for highlighting Rare Disease Day, not many papers are covering this! I too have Ehlers Danlos and everything Maggie May said is true. We need help, we are only asking for one doctor in this country who can look after us properly. It really is a battle for basic human rights.
The ehlers danlos has affected her immune system by attacking her bone marrow it is a very rare complication but which has meant she has had 2 bouts of meningitis 4 bouts of septicaemia 2 ecoli and numerous life threatening bacterial infections and viruses. Her heart is also affected and it is getting progressively worse. She spent 18 months in hospital years ago and was at that time sent to uk but with the cut backs they no longer sanction it she is not the oh one eds affect everyone differently but needs specialist care not available here
What are the chances of Kneecap and other Irish hopefuls winning a Bafta tomorrow night?
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