It’s funny how one day a year we are supposed to shout from the rooftops about rare disease. 

I am supposed to tell you all about facts and figures regarding rare diseases. I've done all that before. I even write regularly about my son Ethan, who has a rare disease.

So what can I do differently this rare diseases day?

I’m going to share with you something I wish I had read when I knew something was different about my beautiful first born son, Ethan.

Something that I think everyone needs to really really understand is; having a rare disease isn’t that rare.

I had no idea what a rare disease was until March 2008; let alone that having one wasn’t that rare.

We all, every single one of us, have this mentality that ‘it won’t happen to us’. Whether you would like to admit that or not; it’s true.

I am a ball of anxiety and any one of my good friends will tell you that one of my many ‘talents’ is worry about something that may never even happen, or jumping to the absolute worst case scenario especially when the scenario involves my kiddies.

When we were called in to receive Ethan’s test results ; even I didn’t imagine an incurable rare disease - I pictured Autism, some sort of learning disability or even a physical one the appointment went on I even pictured childhood Cancer , not a rare disease like Hunter syndrome.

I mean, come on? Who would ever think a rare disease can touch their loved ones, their parents, their kids, their friends...

I remember begging the doctor to start him on chemotherapy because that’s all I knew when the words terminal and life limiting were used in one sentence.

I recall being angry; there was no history of rare diseases in our families, let alone something as rare as hunter syndrome. Surely there would be a history of it somewhere along the family tree...

We had Down Syndrome in our family, I was angry that my son didn’t have Down syndrome instead...that’s what a diagnosis of an incurable terminal rare disease will do to you; it will bring you to your knees begging for something that therapy or chemo can possible help or cure.

I pleaded with the doctor to test for Cancer at one point during our appointment, because I knew even with something as heartbreakingly sad as Cancer my boy had a fighting chance ...I wanted to exchange one heartbreak for another.

When the doctor tells you to bring your child home and love him for the time you have him, your world and your view of the world changes, dramatically.

It doesn’t happen overnight but gradually you become some sort of an advocate, a parent on a mission.

Sometimes the mission is just to be heard by the professionals, or to be understood by your family and friends but other times it’s about telling that unsuspecting parent that this can happen, a rare disease can come out of nowhere and rip your heart to pieces.

It becomes about trying to educate people about rare diseases and how they are often misdiagnosed simply because the doctor never heard of it or the parent thinks that maybe they are overreacting to their child not hitting certain milestones.

It becomes about getting the medical professional to recognise the early signs and symptoms of such rare diseases as Hunter Syndrome (my personal circumstance)

It becomes about encouraging parents who know, deep down, that something isn’t quite right, to speak up and not be afraid of the letters that come after names. A parent knows.

It becomes too, on some level , if I’m totally honest , about letting the world know that your child is important , that your child matters whether they have a terminal illness or not.

Wear that you care this February - 28th — Rare Disease Day.

Wear Jeans for Genes or share this post in order to create awareness for not only our kiddies but for parents out there who are facing the unknown and for the medical professionals who need to become quicker at diagnosing such rare diseases as Hunter Syndrome.

Thank you all for reading. 

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