These days are so different.
He stares off into the distance.
I am sure his mind has wandered into somewhere magical as he begins to laugh and yelp.
A place I cannot follow. A place he visits more frequently these days.
He is fourteen now.
I find myself slipping back into the past as I watch his abilities slowly disappear.
I speak of him in the past tense, which I berate myself for. The guilt is horrible when I hear the words “Oh he used to…” Or “remember when he did this and said that…” coming out of my own mouth when talking about my son, who sits quietly in the corner, more and more often these days.
My son is still here and very much alive…
But these days; he isn’t the same child.
He is no longer that four foot whirlwind.
He no longer will tell strangers to “Fug off” when they stare at him.
He no longer calls me ‘mammy’.
He no longer yells his name for all to hear.
He is no longer defiant; and oh how I miss it.
I miss it all.
I miss his anger, his cursing, his throwing of objects, his screaming at me, his ability to shut down any one staring at him by telling them to ‘Fug off ‘.
I miss it all.
He still laughs.
He can still engage with me on a good day.
Certain words he can repeat.
He can still have a meltdown but they are few and far between.
I even miss the meltdowns; as for me, they let me know that he was still here, he was still with us and understanding the world around him.
He is quieter these days.
He still gets excited over his TV shows; but has lost that same excitement he used to have for Birthdays, Easter, Halloween and of course Christmas. These holidays were his world for so long, but now they mean little to him.
I miss it all.
He now has to use thickeners for his liquids and is awaiting a swallow test; as it appears his swallow is deteriorating. We used to have to lock our fridge because this same little kid would eat raw sausages if given the chance; he no longer even acknowledges the fridge. His favourite thing in the world, ‘ice-cream’ he can no longer have as it’s too thin and goes down the wrong tube, causing him to cough or even aspirate. We aren’t even sure if he misses ice-cream, if he remembers that he used to love it.
I miss not being able to trust him not to eat everything he saw.
When he was diagnosed back in 2008 at the age of almost 6; the doctors told us that Hunter Syndrome takes, takes and takes until there is nothing left to take.
My beautiful boy, Ethan has lost so much.
Everything from his hearing, his swallow, his heart, his lungs right down to his ability to walk… it is all dissolving right before our eyes and there is nothing I can do, for there is no cure for my boy and no cure for our family.
Ethan has Hunter Syndrome.
Hunter Syndrome affects (roughly) 2000 families all over the world.
Some are ‘luckier’ and have a milder version of Hunter syndrome, others are participating in a clinical trial for a possible cure, while others are just like us; our boys were born too early to even be considered for a clinical trial, while many families have already said their final goodbyes to their young sons.
I write about Ethan and our family and how we are learning to live, love and laugh again, ever since we were forced into this world of ‘special needs’.
Ethan brings us so much joy and laughter, but I would be lying to myself and others who live this life, if I wasn’t completely honest too – Hunter Syndrome isn’t an easy thing to have in your family, it takes so much, but, and it is a big but;
It teaches you to live.
It teaches you to live in the here and now.
To appreciate the tantrums, the screams, the kicks, the bites and all the bad language your child is able to say!
It teaches you that time is something we are all given; it’s what we do with it that matters.
It teaches patience.
It teaches kindness, acceptance, understanding, compassion, empathy.
It teaches us to be better, do better and live better by simply enjoying all those little things in life that so many take for granted; laughter, noise, first milestones, love…
There is hope for the younger generation of boys with hunter syndrome; ( there are only two girls diagnosed with Hunters currently in the world).
There is research. There is a clinical trial currently. There are a lot of advances being made towards a cure.
Currently, our boys are given an infusion every week, which helps slow down the progression of the syndrome. Our boys are missing, (or а partially missing) a teeny tiny enzyme; they are given a man-made version of this enzyme which cannot, for now, pass the blood brain barrier; meaning the deteriorating will continue at the same rate (as it would without the drug) in the brain, so our boys will lose skills they had already mastered in earlier life.
My son is Ethan; he is fourteen and a big brother to J and D. He is full of fun, laughter and love.
These days he is quieter, but he will cuddle me for longer and let me hold his hand for hours.
These days are hard, but they are full of making moments and memories with our three boys.
We know love.
We know sadness.
We choose to focus on the love that our boy showers us with daily.
He stares off into a place I cannot follow; I will always be waiting for him and softly calling his name, even if his response is slower these days.
*What is Hunter Syndrome?
Hunter Syndrome is a rare genetic syndrome.
It mainly affects boys; although there are two known cases of girls in the world.
There are roughly 2000 worldwide living with the syndrome.
There are varying degrees of Hunter Syndrome, mild and severe.
People living with (severe) Hunter Syndrome are missing an enzyme.
Others living with (mild) Hunter syndrome the enzyme is damaged or partially there.
That enzyme is responsible for helping break down certain complex molecules.
When that enzyme is missing or damaged the molecules build up in harmful amounts, eventually causing permanent, progressive damage.
This missing enzyme or lack of enzyme does so much damage; it affects appearance, mental development, organ function and physical abilities…. basically every single part of the body and mind becomes damaged over time.
It is a progressive, terminal/life limiting condition.
There is no cure.
There is a treatment which slows down the progression of the syndrome.
A man-made version of the enzyme is infused weekly into Ethan’s body; this looks to the untrained eye like dialysis. It takes 3-4 hours each week. It eases the symptoms but does not stop it. It helps Ethan’s body but not his mind. This is called Enzyme Replacement Therapy (ERT).
Children with the severe form of Hunter Syndrome rarely make it to adulthood.
Currently there are ongoing trials. In layman’s terms, they are trying to cross the blood brain barrier using the same drug which Ethan receives; the hope is that this will slow down the regression in the brain. To date, it is unsuccessful.
For more information on Hunter Syndrome please visit http://rarediseases.org/rare-diseases/hunter-syndrome/
OMP Admin Note: Geraldine Renton is a writer and OMP Network member – who will be blogging on an occasional basis on various causes and issues.
To learn more about Geraldine and her very important and personal message, please check out her website – http://geraldinerenton.com/
Geraldine is an accomplished and prolific blogger who is also writing her first book. More information about that will be added to this section for future blogs, when complete.