2008 was the year my world turned upside down and inside out

 

I thought I had already lived through some of the worst things that could ever happen, but in March 2008 I was proved wrong.

 

I was sat with my (now) husband D in a doctor's office, when the doctor apologised for not "picking it up sooner" before saying: "It is so rare, it’s unlikely we will ever witness another diagnosis".

 

 

“Genetic”, “Rare”, “Terminal”, “Progressive”, “No Cure”; silence hung in the air.

 

The doctor wiped his eyes and assured us that he was here for us: "Whenever you need me you call me, even if it’s just to talk”.

 

To say we left his office in a daze would be an understatement.

 

Anger quickly accompanied my denial.

 

"Nearly six years I have been telling them doctors something wasn’t right!," I spewed at D, venium oozing from every pore in my body.

 

“They can’t know for sure? A made-up disease! I’ve never heard of it! A disease, what a word, implying Ethan is diseased...what is with that word?”

 

D never answered me, he would just hold me, he knew the tears were the next thing to come, and boy did they come.

 

"I stepped into the world of Rare"

 

This rollercoaster continued for months: we were thrown into a world no one, absolutely no one in the whole wide world would ever willingingly go into, but choice was not an option.

 

It took years for me to be able to talk openly about Ethan and his syndrome. The truth is, to this day, I still remove Ethan from his syndrome when I speak about it.

 

When Ethan was diagnosed the doctor handed us a single leaflet which read ‘The Mayo Institute’.

 

I’m pretty sure most of you won’t have a clue what that means, but it is a hospital in America, not in Mayo like I had thought.

 

There was no place I could go to find families like mine. There was no support.

 

February rolled around and we had spent time going up and down to Temple Street Hospital, Dublin. We were becoming experts. We were learning.

 

Ethan was (and still is) receiving weekly infusions which help slow down the progression of his syndrome; it wasn’t and isn’t a cure but it is hope - and sometimes that is all we can hold onto. 

 

Hope that one day there could be a cure. That this drug may really give Ethan a longer life. Hope is a powerful thing.

 

The doctors in Temple Street encouraged me to read about what Rare Disease Day meant. They encouraged me to make contact with the organisers and to get involved.

 

I stepped into the world of Rare. I learned that having a rare disease was not that rare, in fact, there are over 6000 rare diseases here in Europe.

 

 

The word 'disease' began to loosen it's hold over me. I accepted that it was simply just a word.

 

I learned that there are exactly 1999 other families like mine all over the world living with the same syndrome Ethan has.

 

I remember feeling amazed that there was a whole day dedicated to raising awareness for those living with a rare disease.

 

I decided that another February would not pass by our family without acknowledging it, in one form or other.

 

So this year, as this is my first year officially writing and sharing with the general public, I decided to let you all know about Rare Disease Day (RDD) which takes place the last day in February. This year that's the 29th.

 

Ethan brings us so much happiness, joy, fun and laughter. He has shown me a world I never knew existed. He has demanded I become a better person, shown me ignorance, rudeness and discrimination, but my gosh, he has shown me everyday miracles. He has taught me perspective, how to speak up and how to be heard - he has made me the mammy he needed.

 

"Awareness is vital"

 

Had I been shown a picture of another little boy with severe Hunter Syndrome all those years ago, I would have seen that Ethan had the same syndrome.

 

RDD is about the Patient Voice this year.

 

It is about getting Ethan's voice heard and acknowledged, his extra needs to be met by the Government and our healthcare system and to raise awareness amongst the general public.

 

The slogan this year is: Join us in making the voice of rare diseases heard.

Find out how you can help raise awareness here.