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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.
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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You never know what crosses other people are carrying. To be unhappy in your own body for so long is a terrible burden. Best wishes to the author on putting the burden down and getting on with her journey.
These articles are turning people gay
There is far far more stuff in the media turning gay people straight.
Though it doesn’t seem to be working…
So you admit it.
Yup – articles like this have no effect on people’s orientation, because people’s orientation is innate.
Deirdre, John is a renowned homophobe who thought it appropriate to bring up the fact that I don’t like men on an abortion article yesterday. He is only into cheap point scoring at your expense.
Might be letting them experiment but not turning them gay…
So it is a fact that Ailbhe does not like men. As I assumed.
Also, please go easy on the homophobes. It is not their fault that they were born homophobic.
John now body Is born homophobic. That is learned behaviour as I am sure you know considering you have learned it and aced it yourself.
James
You are some mess.
That would be you John not me.
The banks do that with married people too by the way. I think dealing with banks is a whole new echelon of hell. Fair play to you.
Great article, well done.
I’m very unhappy in my body , I feel I should have a 6 pack and no body fat , actually it’s my right to have them blah blah
There are real problems in the world, and yet some people are so wrapped up in themselves that they invent an issue like being trapped in the wrong gender. It’s ridiculous that so much media attention is focused on this in order to show how liberal they are. A nonsense of a problem.
Shut up.
@contro pure ignorance and prejudice
Great article Deirdre. I especially like the point you make that your genitalia are nobodies business unless you’re in a relationship. I don’t see why people need to know what’s between somebodys legs or defines them by that. Its so immature and narrow-minded.
It really is. Doctors should guess the sex of the patient when treating. Vets with animals too.
Should we have no signs on toilet doors then?
Is the toilet door between the person’s legs? Read my comment again folks. You’re clearly struggling to understand
It’s not my point but some could argue it is.
IMac, what’s between a person’s legs is their business unless they choose to share it with others. Inuding their Dr or partner or friends or shout it from the rooftops.
Sorry, Kmac
The signs on toilet doors do not depict genitals – they depict gender presentation. So when I go to the loo wearing a dress, the signs make it pretty clear which loo I should use.
A tiny minority of the population gets a daily mention on the journal ,while families are relying on lay litigants to fight for their homes in every court in ireland and don’t get a mention.
Why don’t you start by writing an article on lay litigants or whatever your issue is (in the same way Deirdre here has written an article) and submit it to The Journal for consideration.
Great article, well done!
Excellent article well written, detailed and helpful to many. In relation to some of the comments it’s important all parts of society shares so we all become informed and educated. Well done Journal.
…. and gay.
Transgender issues are so hot right now.
The problem lies in the brain not the body, if a woman has all the in inards of a woman yet still believes she is a male, the problem lies in her head.
Mind you for that person it is still a big problem and one I am glad I don’t have!
Perhaps one day a bit of minor surgery will solve the situation or perhaps prevent it happening earlier, in the womb, who knows!
Bill, to undergo the medical portion of transition a transgender person has to be assessed by both psychologists and psychiatrists first. Do you REALLY think that you know better than the medical experts in the field?
Talk about first world problems.
A Transatlantic attack on our culture.
Transgender people exist throughout the world in every culture.
Transcontinental so.
Contro Versial what a stupid thing to say, the news reports different aspects of society there are many problems in every aspect of life and there will continue to be, I thought this article was a nice insight into how it feels for someone having to go through with it, as for Kmac stop trolling.
I’d entertain your comment if it was the case.
Just to take you up on something you mentioned in your article. You say that – post-operatively my body stops producing that dreadful hormone called testosterone. Do you take testosterone supplements along with oestrogen as testosterone is a hormone that is vital to a woman’s health just as much as it is to a man.
Margaret,
I should have said that my body stops producing testosterone in the quantities it used to.
My body still produces testosterone – but in the same sort of quantities any woman’s body does. I don’t need supplements.
Telling bikes is going too far.
It’s a legal requirement to tell them.
So you can play ladies golf now even though you are a man?
Probably and no. I can probably play ladies golf (in theory, I can compete in the olympics as female, as I’ve fulfilled their requirements for transgender people competing in our true gender). And no I’m not a man.
The estrogen I take has massively decreased my muscle mass – I’ve lost a lot of my strength – which is why I can fairly compete as female.
You’re sex chromosones are xy if I am not mistaken.
You should be hitting off the back tees. Full stop.
John – I haven’t been tested, but my guess is that I have the Y chromosome.
So what?
Ever hear of “complete androgen insensitivity syndrome”?
Ever hear of “Monkey see, Monkey do”?
Omg John …….. LEAVE HER ALONE! Get a hobby, or actually……just f**k off! And while you’re at it, have a think about how you make people feel with your appalling homophobic comments. This is a very brave and real life story. I wonder would u be as brave publicly!
Deirdre this is a honest, beautifully written story. I have nothing but complete respect for you to come out and do this so publicly! Please please please just ignore the nasty comments. You are better than that! And braver :)
Very good article. It would have been braver to have put your name to it in order to encourage those who may be going through the same thing at this time.
She did
Sorry about that. She did alright but I did not see it.
No worries
Greetings :)
Hi Deirdre. Great article. Every happiness to you.
People are who they are through their genes, the rest is psychological???
Michael
How dare you refer to science. You homophobic monster.
Yup – no doubt it’s my genes which made me transgender.
John your humour is nearly as crazy as mine, I love myths, religions, spirituality and science, now that should split the camps lol.
Deirdre, we are more than our parts, therefore we can not use them to excuse anything as free will and belief gives reason, why is just another question?
It was an operation that made you transgender.
Homosexuality being inherited is the ultimate contradiction.
“I’m Gay Like my Parents”
John – it was being transgender that prompted me to engage with the medical profession – not the other way around.
The medical profession doesn’t give the kinds of treatments I’ve received unless you are transgender. They don’t create transgender people – they treat transgender people.
People are insane.
No John, people are ignorant. You are a prime example
Actually John, as part of medical transition transgender people are assessed by both psychologists and psychiatrists. My wife is trans and has twice been declared both sane and competent. How about you?
I am Batman. I am going for surgery next week.
John,
I’m delighted for you! It takes a lot of courage to be who you truly are in the world in spite of all the pressure society puts on you to conform.
I can only imagine the psychological, psychiatric and medical tests you had to go through before being given the all clear for your surgery.
So you are going to spend the rest of your life as batman? You are going to change your legal status? You are going to re-adjust all your social interactions? I presume you are also going to change your name? It’s a lot of work, and I wish you the best.
Deirdre
Fair play to you for showing so much tolerance in the face of what may seem like intolerance.
But I assure you it is not intolerance towards you. Most gays are a victims of an attack on our masculinity as a nation. First they sexualise our children young through Disney movies etc, then they complete the process by various means as outlined below.
https://unhappygay.wordpress.com/how-does-homosexuality-occur-in-men/
Fair play to you if you are happy but please stop spreading the idea as we need masculinity to defend our land against potential aggressors, whoever they may be.
John,
Did you just seriously suggest that I read a right-wing “christian” perspective on what causes homosexuality?!
I suppose next you’ll be saying I should go to a Nazi website to learn the history of judaism?!
Good grief.
There is more to life than sex.
Excellent article, Deirdre. Congratulations and best wishes to you!
Well done Deirdre, from your old NearFm pal ;)
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