Hunter’s Syndrome: Life in Stages

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/

Geraldine Renton.

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.

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November Blues

Today feels like a gloomy day.

Donald Trump has just won and most of the people I know are in shock. He represents everything that humanity has been trying to fight for decades. It feels like we just stepped back in history. And the saddest part? He didn’t get there alone.

People I love, admire and respect chose him.

I can’t understand why. Not even after hearing their reasons.

I’m biased. Completely.

I know the USA will keep going. I know they’re strong enough to get through this. I have no doubt about that. People are frustrated and worried, but life keeps going and they’ll make it work.

I’m worried about my country. I’m worried about Mexico.

But most of all, I’m worried about humanity.

What kind of society are we leaving to our children?

A society that breathes television shows and has you tube vlogs for dinner?

Our technological advances have brought us closer and further away. We live in a world where people can thrive in China from the seat of their home in Canada, but who are having a hard time interacting with one another on real time.

Just take a look around you.

We’re glued to our phones, to our iPads or computers. Most of our interactions are defined by likes, retweets or shares. Popularity is based on how many online friends we have.
Our humanity is falling apart. Our values are disappearing.

I think this is a wakeup call.

This is the moment when people realize where we stand and how we can change it.

Because we can turn things around. We can learn from our mistakes and our bad choices.

We know what doesn’t work and instead of ignoring it, we can start to fix it.

We’re given another opportunity to fight for our beliefs and to be a better person each day.

It must start within ourselves, though.

It doesn’t have to be a huge change. We can start by appreciating our loved ones, by showing our children how to be respectful and kind to one another.

No matter what language we speak, or the color of our skin, or who we’ve chosen to love, we are humans, and we’re all in this together.

A small gesture is all it takes to change the world.

Gaby Cabezut

OMP Admin Note: Gaby Cabezut is a writer and OMP Network member – one of a group of networkers who will be blogging on a regular basis on various causes and issues.

Gaby first became known to me through a recommendation from the talented, helpful and nice Keri-Lee Kroeger. It didn’t take me long to realise that Gaby was also possessed of these qualities so she seemed a natural fit to join the OMP Blogging team.

A much respected and followed writer on the large writing site WATTPAD, Gaby has also been published on Amazon and her two published works HOPELESSLY IMPERFECT and PRINCE WITH BENEFITS can be found here.

https://www.amazon.com/Gabriela-Cabezut/e/B019NRRZFS/ref=sr_ntt_srch_lnk_3?qid=1479500866&sr=8-3-fkmr0

A story by Caby Cabezut will also be featured in the upcoming fifth volume of BITE SIZE STORIES.

The Doing Model – Today.

I ask you to be patient with me as I share my thoughts on the state of the world today in this blog, but we are in a Presidential election year and I feel the need to share with you a bit more about the Doing Model I mentioned in my last blog. I believe it has value and may help the outside world to understand where we are in the States at this time.

As I look at the current state of events in the United States and across the world, I see how the Doing Model put forth by Susanna McMahon, PhD, in her book: The Portable Therapist is playing out. She proposes that people subscribing to the early American work ethic, values we honor in the States, has lead to a society in need of therapy. She believes that there are more people exhibiting serious mental problems than there are individuals who are living complete and whole lives.

In this model, we travel our lives in a linear manner geared toward achieving goals and gaining material property and other external rewards. We are born into the system and progress through our lives measuring our success by how much we have gained: higher educational degrees, more promotions, successful families and children, bigger and better homes, more expensive cars, more wealth, more, more, more. This idea promotes the belief that we can never have enough or be enough, unless we are better than our neighbors.

It seems that those at the top can never have enough. Many families have more wealth than they could spend in many generations, but seek to get more. Businesses are there to make profits and pay dividends to their shareholders. They are there for the bottom line and aren’t concerned by how this impacts the world most of us live in. Bank presidents are paid tremendous bonuses even when their banks bring on a serious recession. The rich use tax breaks to avoid paying taxes and do not help in supporting the country’s infrastructure. Jobs have been sent out of the country and many families have lost jobs or had to take lesser paying positions to increase the profits of the large corporations. Pipelines are put in across territories protected by treaties and federal lands so gas can be moved at a greater profit for the wealthy. CEOs raise the costs of goods and services without being held accountable for their actions. War is desirable because it helps the profit margin. The desire for more never ends. The top 1% holds most of the world’s wealth, the middle class is losing ground, and the poor suffer. Many end up homeless.

When we are not at the top, when we are not the best, we therefore must be failures. Because it is difficult to believe we have failed, we look for external causes and begin to blame others for our lack of success. This dissatisfaction is played out on television every day. The cop shows are more dominant than family series. Burglaries, rapes and murders are watched on them and our belief that it won’t ever happen to us are diminished. We sometimes empathize with the villain and can see why he did it or why she deserved it, whatever it is. We learn to hate the police because they are there for the benefit of the wealthy while the others are profiled and abused. The Survivor shows, talent shows and lives of the rich and famous are more prominent than ever before. Athletes and stars are paid unbelievable salaries even if they are lackluster. The world is unfair and we can never measure up. Television rubs our noses in the success of the few and the failure of most.

Once we see how we have failed, we begin to be fearful of others. In the Sates today a race war has surfaced. I thought this had passed with Martin Luther King and others who helped bring us together, but now we see the hatred surfacing. The KKK and Nazi Party have become prominent in this years election and Americans are listening to their rhetoric of hatred. The NAACP tells us that Black lives matter when all lives should matter. Gays and lesbians are getting some rights but the Moral Majority has threatened to remove women’s rights by appointing Supreme Court and Federal Judges who will limit women’s rights. The Muslims are blamed for the evils of the world. Distrust of everyone is rampant. Political rhetoric states that we will make America great again, telling us that we are no longer great.

Have I depressed you enough? Sorry, but we must suffer a bit before we can dig ourselves out of a politically difficult situation. For me there is light at the end of the tunnel. Gen X has begun to turn away from the values we have cherished. Many are seeking to live in smaller homes and many don’t even want to own a car. Marriage is not as important as it once was and even the number of children desired is less. They may still want the latest technology and gadgets, but the footprint they make on the world may be smaller than that of previous generations.

For the older generations, we are beginning to see that the world we have created needs change. Global warming is beginning to surface as a problem and we may be ready to give up a bit in order to save the world from the disease of greed. The genocide of the Native Americans and the degradation of their peoples are frequently seen on Facebook and other media and are now viewed as a problem. A race of peoples may finally be understood and get the notice that has been denied to them since the Europeans took their country. A dysfunctional government has been recognized and the masses are asking for change. It might take a while before change occurs, but at least we understand the need. The rights of everyone will be looked at in the future, not just to be considered “politically correct” but also to truly understand the value of every individual.

The mental illness that many suffer can be treated. Cancer will be worthy of a cure instead of pharmaceutical intervention. Until that time, we ask you to support the OMP Project and help us help others.

I promise to be a bit more upbeat next edition. The election will be over and we will be seeking many new solutions to world concerns. Meantime consider the journey you are on in this life and see how you can be a solution. Thanks for reading and respond if you have time.

Nancy is writing a series of journaling materials to help people understand their own lives and move into a better world. Reflections Through the Looking Glass should be coming out in 2016. She also writes stories about haunted places and haunted lives. Share your story with her. Maybe  she can use it in her books.

Nancy PS Hopp

OMP Admin Note: Nancy PS Hopp is a writer and OMP Network member – one of a group of networkers who will be blogging on a regular basis on various causes and issues.

Nancy is a writer I encountered on the writing site WriteOn. I was impressed with her thoughtful and mature flash fiction stories, often based on her own experiences and background and asked her to join the One Million Project network, as a valued member.

One of those stories or a brand new one will appear in the guest writer section of the upcoming volume four of the anthology BITE SIZE STORIES series.

Inspiration Versus Procrastination

I admit to being a world-class procrastinator. Having lived that way most of my life, it is probably too late to change. I successfully procrastinated my way through high school and, many years after, college, summa cum laude.

Having never been a disciplined scheduler, I use my non-writing time for inspiration. I love to write, but sitting in front of a screen for hours when I’m not ready does not work for me. A friend tries to write 2000 words every single day. She says she doesn’t want to get out of the habit, even if many of her words are thrown out. I admire her for that, I really do. I doubt that I could do it, unless I were being paid for each word.

In college, I wrote essays, critiques, and theses with comparative ease. At least, it appeared so to my peers, who stressed over the required length and due date of each paper.

However, my method of madness worked for me. My secret is this: When I’m not actually writing, I think about different approaches and paths to take. I draw inspiration from many things: people in my life, places I’ve been to or want to go to, encounters in my past or books I’ve read. Then, when I’m ready, I sit down and let the words flow, editing as I go.

Having taught creative writing, I know that the conventional wisdom is to let the words flow and then, begin the editing process. That is the way I taught high school students, especially those who struggled with the concept of putting words on paper. Giving the freedom of not worrying about grammar, punctuation, sentence structure, etc., opens pathways to creativity. However, for myself, I cannot allow typos, run-ons, or misused words to exist for very long. As a former copyeditor/proofreader, it goes against my very nature. Recently, I quit reading a book that I liked because it was not properly edited. I know, I know! My friends say I am a bit obsessed.

Not everyone processes information or gains inspiration the same way. My point is that a writer should be free to do what works the best for the individual. Hundreds of “Learn to Write” books are in the marketplace, and they give great advice. But the best way to write is to follow your own inspirations, from wherever they come.

And don’t procrastinate for too long!

By Michele Potter

OMP Admin Note: Michele Potter is a writer and OMP Network member – one of a group of networkers who will be blogging on a regular basis on various causes and issues.

Michele is an incredibly diverse and talented writer who I hope will collect her short stories and make them available on Amazon someday soon. In the meantime her story PERCEPTIONS is available in the guest author section of the flash fiction antholgy BITE SIZE STORIES VOLUME ONE.

https://www.amazon.com/Bite-Size-Stories-Jason-Greenfield-ebook/dp/B01HALHVBW/ref=la_B00CBFLI1W_1_4?s=books&ie=UTF8&qid=1475095358&sr=1-4

https://www.amazon.co.uk/Bite-Size-Stories-Jason-Greenfield-ebook/dp/B01HALHVBW/ref=sr_1_1?s=digital-text&ie=UTF8&qid=1475095546&sr=1-1

Combating Writer’s Block

Writing has been around since the year dot, or people have been writing ever since they could hold a piece of charcoal – the same thing to say, really – so there’s no real difference about the objective. To get something down on paper or on a computer screen, whether it’s a treatise, an essay, a blog post like this, a story or a book, is the same vein of every writer. It’s the circumstances that are somewhat different, and some not associated with writing at all can get in the way. Obstacles to writing fluently or efficiently can be complex or multi-faceted.

Some writers who are super-efficient can write up to 10,000 words per day – a phenomenal tally – but the disadvantage of this is a tendency to become too sedentary so that other interests or concerns get pushed away or seconded to some back-burner. Some might call it the need to ‘get a life.’ One best-selling author who can reach this tally admitted he was becoming physically inactive so needed to do something about it. Of course, this can work the other way – one is not writing enough or applying nearly enough discipline. So, how can one reach a semblance of balance?

Writer’s block isn’t just about struggling to find or develop ideas. Sometimes I struggle to find ideas to deliver in my teaching profession. It’s also about struggling to get a pool of ideas down on paper. I don’t have too much difficulty with this but in getting some writing projects finished – I do.

I get somewhat tired of reading all the hype flying around about how writing is all the ‘new’ rave now, just because of the e-publishing syndrome. Apart from the opportunities self-publishing offers, has much really changed? The same best-selling author mentioned above who was speaking in a podcast a few months ago said there is no substitute for the brain. No matter how many cool or efficient software aids or gimmicks are out there such as Scrivener, Sigil, ibooks, QuarkXpress – another rave, and raves – nothing can replace the thought process. Thinking has its own index.

Ok, so you’ve figured out you don’t need to go much further than MS Word in getting a manuscript done, but what if you’re still struggling to get something down on paper? You might find staring at a computer monitor all day is headache-inducing and bad for the eyes, particularly when you’re editing. Writing can be enjoyable but also rudimentary.

Does it depend on one’s mood? And what if there’s no pressure or deadline? How are you going to be spurred on?

Electronic devices are comparatively recent. Before the advent of the computer and the key-thumping typewriter, people wrote by hand which went on for generations. Austen, Dickens, the Brontes, etc, had no alternative but to dip a nib in ink and write by hand. When Hemingway and Fitzgerald came along, the key-thumper was likely used, but judging by the content these authors produced, their motivation wasn’t affected at all. It’s not about the tool. It’s about attitude.

I’ve recently been struggling to get a manuscript I’m working on…I wouldn’t say finished, but in getting some headway with it. I had been carried away with the idea that working from a computer will solve all the problems. Not at all. Sitting in front of a monitor hour after hour churning out an idea pool hasn’t been that appealing, not to mention those headaches. So, what did I do? I resorted to the pre-twentieth century method. I grabbed a biro and a refill pad and started writing by hand. I’ve lounged on the settee letting the ideas form fluently while flexing my handwriting and it’s turned out to be less wooden, taxing, or constricting than sitting cooped up behind some desk where ironing out ideas mightn’t be as forthcoming. Continuing with the publishing process, now that I have something to work with, will be a lot easier.

Using the term ‘combating’ in this post’s heading may be somewhat forlorn, but if any writers out there are struggling to churn out ideas, try the pen and paper method. You never know, it might help.

David Butterworth

 

 

 

OMP Admin Note: David Butterworth is a writer and OMP Network member – one of a group of networkers who will be blogging on a regular basis on various causes and issues.

David’s first book CRUISING COAST TO COAST can be found on Amazon and his flash fiction will be available in Volume 5 of BITE SIZE STORIES (coming early 2017)

https://www.amazon.com/David-Butterworth/e/B00RYSEBGU/ref=dp_byline_cont_ebooks_1

https://www.amazon.co.uk/David-Butterworth/e/B00RYSEBGU/ref=sr_ntt_srch_lnk_2?qid=1474484203&sr=8-