Rare Diseases Day 2018

Rare Diseases Day

If you are a parent reading this, or an aunt, uncle, grandparent, cousin, sibling, friend, school teacher, a GP, a nurse, a doctor or even a paediatrician – I want you all to come with me on this imaginary trip. It’s not a good trip but a trip some families have to go on.

Imagine you have a beautiful little person handed to you just after birth – maybe this person is your child, a relation, a friend. You get the idea right?

Imagine watching that child grow and develop into a wonderfully bright toddler; running wild, full of questions and absolutely full of life.

Imagine you get up one morning and that same child is sitting in a corner crying. You have no idea why. They are hot and your best guess is that they are ‘coming down’ with something.

The GP confirms what you think but tells you it’s just another ear infection. That’s 10 since this 2 year old was born.

“It’s common enough in children his age.”

The ear infection leads to a chest infection which happens more often than not – back to the GP.

“Ah yeah, it’s just a bad run of it. He will be fine.”

Imagine staring at this child wondering where he got those eyes from? Those big hands from? That mop of hair from? And look at that belly? It’s so round and sticks out quite a bit…

Imagine you feel something is not right but you cannot express it accurately enough to the GP. You try though, you try really hard.

“I think he has hearing loss, he doesn’t seem to be interested in people any more or his toys and this may sound silly, but he doesn’t look like me or his dad or anyone for that matter.”

“Right we will get the ears tested, worse case scenario he needs grommets, a lot of kiddies need them, once or twice and then they outgrow the issue, if there is one. I think he looks like any other toddler. Are you getting enough rest and help at home?”

Imagine finally getting therapies such as occupational therapy, speech and language because your child does have a hearing loss but by all accounts (and according to a top Ear Nose & Throat specialist) – he will outgrow it.

Imagine you don’t agree with the specialist? You really believe hearing loss isn’t the answer, you had hoped it was but you still don’t see your toddler behaving the way he once did.

Imagine watching your four-year-old being unable to do the things his 18 month self was able to do?

Imagine his speech declining and being told by all the specialists and therapists that this is ‘quite normal for children with hearing impairment.’

“But he’s not using his older words. He won’t play with his toys. He walks funny, always on his toes and he is in and out of hospital with chest infections so often. I don’t understand how all this is because of his hearing loss!”

“Well, after we get these latest sets of grommets in, we can get an assessment of need, perhaps he has a mild learning difficulty, and if these grommets don’t work, this time we will have to look at getting him fitted for hearing aids, OK?”

“But if he has a learning difficulty, I still don’t understand, it’s like he woke up one day and forgot everything. He was fine and quick at learning up until he was 18 months old, surely if he has a learning difficulty he wouldn’t have been as ‘bright’ as he was. I don’t understand what’s happening to him.”

“Well, we will assess him, he could have autism. Time will tell. Now, tell me are you getting enough rest? You seem very agitated?”

Imagine for five years and ten months of that child’s life you spent having conversations with doctors, nurses, family and specialists like the above ones.

Imagine you are sitting in a hospital while that same child, now 5 years (almost 6) is being prepped for surgery – again – to get his fifth set of grommets despite the same specialist telling you he will not put in grommets more than three times on any child.

Imagine your heart is beating so loud and your mind is yelling DO SOMETHING DO SOMETHING NOW!

“OK. We are getting him ready now and heading down to the theatre in about five minutes.”
“No! NO more fu*king grommets! They are not working!”
“Calm down, OK, calm down. We can discuss this after the grommets are replaced.”
“No! I am not signing that consent form and I am not letting YOU touch him. Get me a kiddies doctor now. NOW!”

Imagine your knees buckling, imagine your body shaking because you have just roared at a specialist in a packed hospital ward.

Imagine meeting a doctor who listened.

Imagine that doctor listening to even your ‘silly’ concern about your child’s physical appearance (that child not looking like family members).

Imagine the sense of relief when that doctor responds with “OK. I see. He has definitely got something going on other than a hearing impairment. I’m not convinced he has autism either and to be honest I am shocked at the amount of hospital admission he has had. You are absolutely right to be concerned. Together we will figure this out, you have my word.”

Imagine sitting with that very same doctor 3 weeks later and hearing these words:

“Genetic.”

“Rare.”

“Metabolic.”

“Mucopolysaccharidosis.”

“Progressive.”

“Life limiting.”

“Terminal.”

“No cure.”

“Hunter Syndrome.”

I want you, the reader to take a minute and imagine any doctor telling you that about someone you love.

Imagine there is one day every year where you can inform people about the path you had to take to get a diagnosis?

Imagine the overwhelming feeling you would get if people showed their support for you and your loved one by simply sharing this piece or wearing Jeans for Genes?

The last day in February is Rare Diseases Day.

My son has MPS – type 2 – Hunter Syndrome, which is a rare, terminal disease.

We were told only boys have Hunter Syndrome, yet the very first person we met with Hunter Syndrome was a girl.

There are roughly 2000 families all over the world living with Hunter Syndrome.

There are ongoing medical advances and research into Hunter Syndrome.

Hunter Syndrome knows no religion, region or sex. It can affect anybody. There is no history of MPS let alone Hunter Syndrome in our families.

Awareness is vital. Awareness in the medical fields especially.

Awareness amongst the general public is also important. There are 7 different types of MPS.

So, I ask of you the reader – Imagine.

About the Author

Geraldine Renton
Geraldine Renton lives in Galway city with her husband and three young sons. Life changed dramatically for Geraldine and her family back in 2008 when her eldest son, Ethan, was diagnosed with a life limiting condition known as Hunter Syndrome. Looking for an outlet for herself mainly, Geraldine began taking regular creative writing classes. In 2015, she wrote her first article which MummyPages published. Since then, she has continued to have her articles published all over the world. Geraldine writes openly and honestly about life with Ethan, often finding humour where others would neglect to look. You can also find plenty of Geraldine’s childhood stories throughout her website (http://geraldinerenton.com). In 2016 her blog “It’s Me & Ethan” won Best New Blog (2016), awarded by the Irish Bloggers Association. Geraldine continues to write regularly, not only on her own website but also for others. She is also writing a book! She has a non-fiction short story with ‘The One Million Project’, a global network of writers and illustrators coming together to publish a book in aid of different charities in the UK. The book is due for publication at the end of this year. When she’s not writing, Geraldine is a keen photographer and enjoys life with all her boys. She tells The Galway Eye she knows far too much about LEGO NINJAGO, Minecraft and how to burp on demand [*raises eyebrows* – Ed.] She possibly [no doubt about it – Ed.] has a Netflix addiction and recently became part of the Stream Team UK and Ireland for Netflix, running a Facebook page all about Netflix. Her motto in life is a lot like Ferris Bueller’s – enjoy the littlest of moments for they are the moments that make up a lifetime of memories.

1 Comment on "Rare Diseases Day 2018"

  1. Kevin Willetts | 4th March 2018 at 9:19 am |

    Thank you Ger. I still cried when I read your work even when I know all about Hunter’s because of Rupert. You just write so well. xx

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