Rare Disease Day 2016

The last day of February is and has been Rare Disease Day (in Ireland) since 2008.
That is the same year Ethan was diagnosed with a rare disease called Hunter Syndrome.

It is estimated that there are over 6000 identified rare diseases in Ireland – that ain’t so rare is it?
Alone we are indeed rare but together we are strong.

Ethan is one of those 6000 people living with a rare condition.
There are roughly (which I know of) eight other children living in Ireland with Hunter Syndrome.
Getting a rare diagnosis, in our wonderful country took us 5 years and ten months,exactly.
5 years and ten months is a long time to spend telling doctors and specialist that something ‘more’ was going on with our first born beautiful Ethan.
Doctors and specialists alike gave us so many many diagnoses over the years, they were also never shy of telling me how wrong I was …
“Over anxious mother”

“He will grow out of it”

“You are overreacting, a lot of babies get sick easily”.
Then came words and letters I didn’t understand, throughout our almost 6 year search;

“GDD-Global Developmental Delay”

“SPD-Sensory Processing Disorder”

“Hearing impaired”

“Weak immune system”


“ODD-Oppositional Defiant Disorder”

“ADHD-Attention Deficit Hyperactivity Disorder”


From 18 months old Ethan was losing skills. Each time we got another ‘diagnosis’, I felt it wasn’t quite right. How can a child go from walking, talking, engaging to withdrawn, forgetful and unbalanced while walking?
Some of the conditions that were thrown around as a form of explanation did ‘fit’ to some degree; Autism, yep that made sense but then it didn’t. Hearing impairment did explain loss of language skills and the off-balance walking, but then it didn’t.
Ethan had four sets of grommets; he still continued to lose speech and his balance didn’t improve, in fact, it got worse.
Ethan was receiving therapies from OT (occupational therapy) to Speech and Language therapy and everything in between…but he was still losing skills..he was picking up new skills but losing old skills.
One day in March 2008 I simply refused to let Ethan undergo yet another surgery to replace his grommets.

I begged for the ENT (Ear,Nose & Throat) specialist to listen to me.
He stood his ground and informed me Ethan was to have his surgery today and that I was causing a huge deal down in the OR( operating room).
I stood my ground, like my father taught me how to; when you know you are right, you stand your ground Mac…I heard my father voice.

I refused to sign anything. I demanded I see a pediatrician.
And so an hour later the paediatrician listened to me, he really listened. I cried about how Ethan ‘looked’ different from us, I showed him Ethan’s curled up fingers, his round little sticky out belly, how Ethan toe walked, how even his hair felt different ….
A month later that same paediatrician sat across from us and explained that all these other diagnoses were symptoms. They were symptoms of a much more harrowing diagnosis which would cut our son’s life short, very short.
Our son had a rare disease called Hunter Syndrome.

There were only another 1999 boys (one girl) in the whole wide world living with the syndrome.
“There is no cure, go home and love him”
Ethan recieves a man-made version of the enzyme his body is missing every week, he began his first ERT(Enzyme replacement therapy) in September 2008. This is not a cure, (the blasted doctor was right) but and it is a huge BUT it does slow down the progression of the disease.
It does not cross the blood brain barrier, meaning cognitively speaking Ethan will still regress as if he had no ERT.
The ERT helps his body, not his mind.

But….due to days like Rare Disease Day and May 15th (which is international MPS day- Hunter Syndrome is also medically known as MPS type 2) awareness campaigns have brought interest to diseases like Hunter Syndrome and has helped fund active research into a possible cure.
Currently there are trials going on in the USA and England where the ERT is being passed into the brain, meaning the boys on the trial aren’t regressing cognitively as well as physically.
There is an awful lot of hope and research that one day, real soon, when another parent faces this path the diagnosing doctor will not only recognise the early symptoms of Hunter Syndrome but that he will say; “Your child has Hunter Syndrome, he will need this treatment to give him as fair a chance at life as any other kid”
Wouldn’t that be wonderful?
As for Ethan, we live with the hope that he may get the new drug if and when it is FDA approved, the likelihood is that Ethan will be too old but there is always hope.
Rare Disease Day is all about raising awareness amongst you, the general public and hopefully to raise awareness so our government and health care system do better when diagnosing and caring for those living with Rare Diseases.
A Rare Disease such as Hunter Syndrome knows no race, religion, region or sex (we were told only boys have the syndrome, the very first child we met with the syndrome was a girl). There does not have to be a history of it in the family; there is no person dead or alive in our families who ever had Hunter Syndrome…A Rare Disease like Hunter Syndrome can affect your friend, your neighbour, your family, your child…
Help spread awareness this February 29th..tell somebody about the little wonderful boy called Ethan who you read about from time to time on FamilyFriendlyHQ!
Thank you all so much!

A version of this  was originally published on FamilyfriendlyHQ

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