It is estimated that there are 350 million people worldwide living with a rare disease.
That is the only statistic I will share with you today. I have written many, many times about the statistics around having a rare disease.
I have written about awareness of rare diseases and how we as a society can help encourage more research into rare disease.
I have written every year for four years about the last day in February and the fact that it is International Rare Diseases Day (RDD)
To find out more about the campaign this year please visit here.
This year I wanted to share with you all the reality of the things people have said to me over the years regarding Ethan having a rare disease.
Some make me laugh now but didn’t at the time, others still make my blood boil and some are just lovely.
I have a feeling I am not the only parent to have been asked these kinds of questions regarding their very own rare gem.
Ten Things I have heard since my son was diagnosed with a Rare Diseases…
Really? Is it that rare. Are you sure… I’m only asking because I am nearly 100 percent sure that there was a boy in my friend’s cousin’s neighbourhood who had that or something like it and sure they never mentioned rare.
Yep, I am 100 percent sure that the condition my son lives with is rare but hey maybe you’re right and I am wrong.
Aww you’d have no idea that there was anything going on with him, he just looks a little bit Down syndrome or a little Autistic… to be honest I thought he was a dwarf …isn’t that rare too though?
These are the kinds of comments that really shouldn’t be in your head but if they are, you should really never EVER say them out loud to anyone especially a parent of a child with Down syndrome, Autism, or Short stature,in fact just don’t say it to any parent of any child with a disability.
Trust me, it will save you huge embarrassment and may I suggest googling the terminology you are using – you twat!
Sure aren’t we all rare eh?
No. No we are not all rare.
We are all unique. There’s a difference. Come back to me when you’re the one explaining to a doctor how to medically treat your child.
How did they diagnose him with him being so rare? I mean, a lot of people are probably walking about with the syndrome and not diagnosed. When you look at it like that, you’re very lucky he got diagnosed.
Oh dear. It took almost 6 years to get a diagnosis for Ethan, considering his syndrome, I am pretty sure there are parents out there who know something is going on with their child and they are on the cusp of being told it’s a rare genetic metabolic terminal syndrome called Hunter Syndrome.
I am also pretty sure there are no undiagnosed adults living with Hunter Syndrome, as getting to adulthood without having a metabolic issue glaring at a doctor is very unlikely…
Children are generally diagnosed between birth and 2 years due to the issues which present.
Normally a child is given an appointment with a metabolic specialist in a specialised children’s hospital before discovering what is ravishing their child.
I Googled the syndrome and I have to say it looks like there’s a cure coming, so never ever give up hope.
This is a tricky one because I know this is intended to give me hope and it is well intentioned.
So, I nod and say yes, yes… money is the issue, have you donated?
Did you happen to notice that that is being driven by parents? There’s no funding. No government grant or aid to help.
Ethan will never benefit from this possible cure (due to his age) but there are children out there who will.
So, if you’re going to talk to me about a possible cure, at the very least have donated, it is the first thing I will ask you.
So you don’t hear much about rare diseases day, like ever. I had no idea until I read your piece that RDD is the last day of February.
Thank you. Thank you for reading my writings.
Share it. Please share it, commenting isn’t enough. I need you to share it.
Do you know that if there was more awareness within the general public and within the medical profession, children would be diagnosed sooner, families wouldn’t have to fight to be heard by all the wrong doctors and research into many rare diseases would begin as awareness would lead to funds and funds lead to research and of course research leads to treatments and cures.
What is it like explaining to doctors about Ethan? Do you get annoyed or do you like knowing more than them? (when it comes to Ethans syndrome) I once told my GP about Ethan and they had never heard of MPS before let alone Hunter Syndrome, it felt good.
So many friends and family who know Ethan well have asked me this and the truth is in the beginning I hated it because I assumed I wasn’t explaining the syndrome right.
I would see their eyes glaze over and then they’d excuse themselves while furiously going through Ethan’s file.
Now, I am more comfortable with gently explaining it and telling them what it is I think Ethan needs in order to feel better.
There is a mutual respect between GP’s and parents like me.
Aww bless it’s not easy but sure it could be worse, I mean at least it’s not something like cancer he has.
This comment especially when cancer is used makes no sense to me.
If my son had cancer he would have treatment and that treatment might get rid of the cancer.
Having a rare syndrome like Hunter Syndrome means that there isn’t enough research or people alive with the syndrome to force government into funding a research lab in order to make a drug which might cure the syndrome.
There is no drug, there is no cure and there is no government research into this syndrome.
Parents in America, England & Europe are the ones trying to raise funds in order for a lab to be able to do some research into some form of a cure for Hunter Syndrome because it is rare and rare doesn’t register with governments.
Do you know how many people have Ethans syndrome? Do you know how many of them live in Ireland or England?
I like these kinds of questions.
It makes me think that there is a genuine interest in Hunter syndrome – in the whole world there are roughly 2000 living with Hunter Syndrome, three of them are girls.
In Ireland there are 9 boys and one girl that I am aware of, living with Hunter syndrome and in the UK there are roughly 52, living with Hunter syndrome.
So basically you’re telling me that the chances of you having another child with the same syndrome is fifty percent if he’s a boy, yet you had two more babies after Ethan was born! Wow, I don’t think I would have done that.
Well don’t hold back or hide your true feelings!
This kind of comment used to bother me but it doesn’t so much these days.
The chances of me having that defective gene to pass onto Ethan is really where this began. Genetics are fascinating.
My parents had more chance of winning the lotto than passing that gene to me.
It was just something that happened at the time of my conception.
Simple as that – the scary thing is, it can happen to anyone.
Had I been a boy, I would have had Hunter syndrome- yes having a boy with Hunters is rare having a girl with it is ultra rare. I carried that gene unknowingly all my life.
I would never have known either had it not been for Ethan.
Ethan was almost 6 when diagnosed, which means his brother was already running around like a hyper 4 year old.
Years went by and we thought our family was complete, two lovely boys.
Like many parents, we didn’t plan on our third but found ourselves looking down the barrel of a nine month wait to see how this baby would come into the world.
We got lucky.
But, we decided no matter what that our last son would get everything he needed if he were to have Hunter Syndrome, we knew the ropes by then and were very confident we would be able to get him into medical trails (we had tried this with Ethan but heartbreakingly he wasn’t a suitable candidate) which were ongoing in England at the time.
I am very happy to have three little boys and know how lucky I am to have them and I guess that’s what makes me different from those who ‘know damn well what they would or wouldn’t do’ in my situation.
But hey, they have a greater chance at winning the lotto than being in my situation!
The bottom line is – having a rare disease is not that rare and parents and those with rare disease like to talk about their journey, they encourage thoughtful questions, conversations around awareness and what life is really like being rare.
This year the campaign is all about #ShowYourRare – so please do that and use the hashtag.
Here’s my little Rare Ethan
This was originally published on Firefly