Rare Disease Day 2018 – Meet Enzo

Enzo is the youngest star of this year’s Rare Disease Day video and has just turned 5. (Like me) He also lives with Congenital Myasthenic Syndrome, a neuromuscular disease, which affects the strength of his muscles. Congenital Myasthenic Syndromes affect the way the motor nerve controls the movement of the muscles which act. As a consequence Enzo’s eyelids remain half closed (Ptosis) and Cindy, his mother, says that she is often told that he looks tired and that he needs rest by people in the street (that’s something that I am very familiar with too – that or that I look drunk, which is odd as I don’t drink!!!). Because of how the rare disease affects his muscles, Enzo fatigues easily and so uses a wheelchair most of the time, though he loves to walk for short distances where possible.

Enzo was diagnosed with his rare disease 5 months after he was born and spent much time in hospital where he was misdiagnosed or even told that he was not ill at all. (Again something very similar to what my parents went through for many years too, despite the many symptoms and issues, because the doctors weren’t aware of the condition they didn’t believe it existed!) At one point Cindy was even told that she was ‘crazy’ but, knowing that something was not right, she persisted and, after moving hospital, managed to find Enzo’s diagnosis within 3 days. The struggle to be diagnosed is something common to rare disease patients due to the lack of knowledge of the symptoms and consequences compared to more common diseases. (It took 16 years for my first diagnosis and this only came from a ‘complication’ with anaesthetic – malignant hyperthermia where I technically died in the operating theatre – which led them to realise that YES there was an actual issue with my muscles, which led to a batter of tests during a 6 month stint in hospital, including muscle biopsies, and an eventual diagnosis of congenital myopathy before, many years late, congenital myasthenia.)

However after Enzo was diagnosed with Congenital Myasthenic Syndrome, the next challenge was finding people to help with the care aspect. Finding a physio for Enzo was difficult with his specific rare disease, again due to the lack of knowledge. Cindy had to put her job to one side as she looked to find the best form of daily care for Enzo, whilst also considering the needs of his older sister, and keeping up with the paperwork needed to ensure Enzo kept all of his rights to care. Day to day he has to take medicine at fixed times and twice a week has physio sessions to improve his muscle strength. Due to the scoliosis caused by Congenital Myasthenic Syndrome he has sessions to improve his lung strength.

Despite all this Enzo remains a boy who can’t stop smiling! One of his main interests is the world of cinema and music and so he was very excited to appear in the campaign video. He has met many celebrities including Kendji Girac, Helene Segara, Claudio Capeo and Mimie Mathy. That said he still hasn’t met his favourite celebrity of all, Spiderman, though to Cindy he is her own superhero.

(Enzo, like all kids with CMS – and I have met many of them, including one of my own – is definitely a hero!)

https://www.rarediseaseday.org/videos

#ShowYourRare

Main text comes from Rare Disease Day and text in brackets is my own.

Rare Disease Day 2018

On 28 February 2018, the eleventh edition of Rare Disease Day will see thousands of people from all over the world come together to advocate for more research on rare diseases. Over the last few decades, funds dedicated to rare disease research have increased. But it can’t stop there.

There is so much to be said in the fight to increase rare disease research that the theme for Rare Disease Day 2018 is research, continuing on from Rare Disease Day 2017!  Rare Disease Day 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

Rare disease patients and families, patient organisations, politicians, carers, medical professionals, researchers and industry will come together to raise awareness of rare diseases through thousands of events all over the world.

https://www.rarediseaseday.org/

 

2018 British Martial Arts Awards Nomination

I’ve just found out that I’ve been nominated for a 2018 British Martial Arts Award!

To say that I am amazed and humbled doesn’t quite begin to explain how I’m feeling but it’s an exceptionally special honour as I approach the 30th anniversary of starting my journey in martial arts this coming April.

Big thanks to Anthony Sean Pillage, Sarah and everyone at Warrior’s Assemble for this, as well as the rest of my instructor team at Imperial Dragon Kung Fu who – literally – are world class: Richard Dawson, Lyndon Irwin, Steve Quinn, Jonny Graham and, of course, to all the students throughout the years  because without them I wouldn’t be much of an Instructor now would I? 🙂

Burning Willow Press Announces ‘CROSSROADS IN THE DARK III’ For Ehlers-Danlos Syndrome Charity

Burning Willow Press (BWP) created the Crossroads in the Dark horror anthologies as a showcase for its authors.

BWP Vice President, Edd Sowder, describes the series:

“Typically, Crossroads in the Dark anthologies are themed and this one is no different. Exploring monsters, real or imagined, typical, or on the news, was a concept dreamed up by our staff. The authors involved enjoy the process and it shows in the way they write their stories. This is a primarily horror related subject matter, so faint of heart please do not read it.”

For the 2017 anthology, the company principals approached the staff and authors and announced that they were going to produce the third book of short stories for a charitable donation to Ehlers-Danlos Syndrome (EDS) research.

A former member of the BWP creative team suffers from EDS, and the disease process has left her unable to continue working.

Burning Willow’s authors reacted almost immediately and began submitting stories for inclusion in the compilation.

“What this means is that we are involved. We want our friend to feel 100 percent again. She has been supporting us since we started our business and when was unable to work, our hearts were left with a hole in them. So, we dedicated the book to her and the proceeds to research in her name,” Mr. Sowder related.

About Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome is an often misdiagnosed disease that affects connective tissues. Symptoms may include loose joints, stretchy skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include; aortic dissection, joint-dislocations, scoliosis, chronic pain, or early osteoarthritis.

For more information about EDS symptoms and diagnosis, visit https://www.ehlers-danlos.com/what-is-eds/.

About Burning Willow Press

Founded in 2014, Burning Willow Press has been a much sought-after independent publishing company to work with for many authors of fantasy, horror, and science fiction, accepting blended genres as well. BWP has placed or been nominated for multiple awards in different indie circuits for cover art, best author lists, editors and publisher since its inception. Burning Willow Press distinguishes itself from other small publishers by maximizing engagement with their authors, as is exemplified by the Crossroads in the Dark III project.

Book Blast – Temple of Ghosts by J. H. Moncrieff – Win $100 Amazon gift card!

To celebrate the release of my new supernatural suspense book, Temple of Ghoststhe third book in the GhostWriters series, I want to give you a $100 Amazon gift card.

Because of the delay in its releaseTemple of Ghosts has no reviews. So, here’s the deal: the first fifty people to read the book and review it will be entered into a draw for the gift card. The raffle will run until there are fifty reviews for the book on Amazon, so please share this post and tell your reader friends.

*Once you’ve left a review, leave a comment here:- http://www.jhmoncrieff.com/win-100-amazon-gift-card/ – letting me know your Amazon handle so I can make sure you’re entered into the draw.*

While of course I’d prefer you purchase the book to review it–writers gotta eat, you know–it’s not required. You can send me a pm at jh (at) jhmoncrieff (dot) com, telling me about the scariest thing that ever happened to you in five-hundred words or less, and I’ll send you the ebook to review for free.

One in fifty is pretty good odds! Here’s more about the book:

In the shadow of the jackal…

Medium Kate Carlsson has returned from Poveglia with Jackson, but there’s no time for domestic bliss. Something strange is happening in her sleepy Vermont town—water turns to blood, frogs fall from the sky, and an unlikely stowaway lurks in her kitchen. Even worse, Kate’s friend Eden, a noted Egyptologist, has gone missing.

Darkness surrounds Kate’s protégé, twelve-year-old Lily Walkins, and Lily’s uncle, a soldier who died in Egypt while working on a top-secret government project. Kate suspects the soldier’s untimely death holds the key to the disasters befalling Nightridge.

To solve the mystery and save Lily, Kate and Jackson journey to an ancient temple where the line between god and monster is blurred. With the help of an enigmatic Egyptian psychic, they must face their greatest foe yet.

***

To write Temple of Ghosts, I traveled to Egypt in January, and I drew on a lot of my experiences there when writing the third Kate and Jackson adventure. While this book picks up where The Girl Who Talks to Ghosts left off, there is no need to read the other books in the series first.

Temple of Ghosts is available through Amazon, Barnes & Noble, Kobo, iBooks, Overdrive, Playster, Tolino, 24symbols, and Chapters.

***

Raised in the far north, amid Jack London’s world of dog sleds and endless winters, J.H. Moncrieff has been obsessed with psychological suspense, mysteries, and true crime for as long as she can remember. She’s endlessly fascinated by what makes people tick and has visited many of the world’s most haunted places.

Inhumans – Season 1 Episode 1 review

Inhumans Cast picture

This may be ‘controversial’, or at least goes against the flow, but I quite liked Marvel’s Inhumans …or at least I didn’t hate it 🙂

 
As an introductory episode the story was better than average and introduced the concept and characters well, and left the story lines because – yes – there were more than one hanging nicely, with jeopardy and intrigue galore.
 
Acting was definitely a little more choppy with some characters having the better actors and some – at the moment at least – seemingly having the ‘not so great’ ones, or at least writing/acting combined that were shaky (Crystal, especially, seemed wasted).
 
CGI was all over the place, I actually wondered if they violated Medusa and chopped off her hair simply so that they wouldn’t have to deal with her powers; did they not really use Crystals powerset (which is varied and probably second in power to Black Bolt) just because it was too difficult & expensive? Why did Gorgon wear boots on Earth? To hide his feet, or so that the make-up and costume department didn’t have to work so hard, at least until he stupidly went swimming and then met some great islanders (who actually really were wonderful! 🙂 ). Karnak was actually one of the better parts but his power set was among the easier to portray but why wasn’t it explained that he didn’t actually HAVE any powers …the way it was shown viewers will assume he’s as powered as everyone else!
 
I adored – ADORED- Black Bolt’s use of Sign Language, and how it was an integral part of his life; it would have been better (and more natural) if everyone else that was around him – especially his brother – had been able to understand him too, and not just Medusa, but at least this representation of the disabled/deaf community as just a normal part of him was handled really well. Bolt’s isolation and brooding nature was also done well and I hope this is picked up all the way through – it must be TERRIBLE to be able to speak but have to hold back like this, and I thought the facial expressions, and eye action was done well.
 
So, was Inhumans episode 1 excellent? No, nowhere near. Was it as awful as the early reviews made out? No, again nowhere near. It was somewhere in the middle. It was the first episode of a new show, finding its feet and, hopefully, able to improve. I hope it gets the chance to do so because it had flashes of promise, that’s for sure.

Northern Ireland politics – language or life?

Northern Ireland politics and ‘democracy’ is a laughing stock thanks to the DUP and Sinn Féin behaving like toddlers bickering over broken toys in the playground; it has been 10 months since the last election here where they were voted as the two largest parties (primarily because of tribal & sectarian voting rather than based on sensible policies …and also because a large proportion of people here just don’t vote) but they have wasted that time in ‘discussions’ about coming back to devolved Government – but not actually doing it – leaving Northern Ireland without ANY steer or voice around Brexit, education, health, infrastructure of ANYTHING of importance at all.

The demand by Sinn Féin for legislation to give official status to the Irish language viewed as the last/major stumbling block in the negotiations – as all other so called ‘red lines’ seemed to have fallen away; now I am not saying that respect for our cultural heritage isn’t important because I think that it honestly is but when the language is being used to hold the whole of Northern Ireland to ransom in this way so that schools – ALL OF THEM – are running out of money, and hospitals and GPS – ALL OF THEM – are running out of money, and our infrastructure – ALL OF IT – is running to a halt because of lack of money, and our construction industry is faltering because of lack of investment because their is no Minister then there is a MAJOR issue that can only be fixed by a stable devolved Government actually doing its job …and part of its job would be to sort out an Irish Language Act, either stand alone or as part of a joined up ‘Cultural Act’ as the DUP seem to have suggested that includes other aspects of Ireland/Northern Ireland too, I actually don’t really care.

You see the Irish Language, or the Ulster Scots language, as important as they are, really doesn’t mater when stacked up against people lives/health, their education, their jobs, and their ability to actually live a healthy and happy lifestyle which, at the moment, they can’t because their elected representatives are failing them.
According to the 2011 UK Census, in Northern Ireland 184,898 (10.65%) claim to have some knowledge of Irish, of whom 104,943 (6.05%) can speak the language to varying degrees. Some 4,130 people (0.2%) use Irish as their main home language.
Is that really more important than a cancer center in the City Hospital in Belfast not having enough funds? Or schools all across Northern Ireland worrying where they are getting the money to pay their teachers?

…no. No, it isn’t.

MLAs need – NEED – to get back to Stormont and do their jobs and get their priorities straight and when they are their they need – NEED – to ensure that, obviously, equality and respect for all is a given so that LGBT rights are respected, equal marriage is put in place, abortion (even if – at first, because Northern Ireland may need to take small steps – it is just in cases of rape, incest, and fatal fetal abnormalities) is legalised, that the money is in place for all of the urgent first line health, education, jobs, and infrastructure roles that are lacking and then – only then – they can sit down like adults – not petulant children – and put in place a language act that works for all instead of using it like a hammer that does more harm than good.

2021 Commonwealth Youth Games – slipping away?

Northern Ireland is meant to be hosting the 2021 Commonwealth Youth Games. This would be a WONDERFUL opportunity for all of the young athletes who have trained to compete on the world stage on their home grounds but, also, for the economy as it would definitely boost tourism, retail, and food industry businesses.

However, thanks to the ineptitude and pettiness of the politicians (if you can call them that) here in Northern Ireland, who can’t put the sake of the people and the Country before their own little egos and selfish wants, we don’t have a functioning Government, so the business case has not been signed off by the Northern Ireland Executive.

…in other words we may miss out on hosting a worldwide headline sporting event because of political stupidity.

Or, to put it simply, just another Thursday here in Northern Ireland.

Is Theresa May’s best good enough for Grenfell?

Theresa May is so very ‘generous’ isn’t she?

She has guaranteed to give the survivors of the Grenfell fire disaster an ‘amazing’ £5,500 each to those who lost their homes.

Each household will receive at least £500 in cash and £5,000 paid into an account as part of a £5m emergency fund.

I mean I can’t believe how generous this Government is being …not when compared with the up to £33,000 redundancy package her ousted MPs get after losing their seats at the recent election, plus the up to £50,000 in ‘winding up’ expenses for their constituency offices – which she doesn’t think is enough and is going to set up a hardship fund for THEM!!!

Just think about that.

The people of Grenfell lived in one of the poorest ares in the UK, nestled in one of the most affluent, and the Prime Minister is giving them each just over £5k while at the same time paying off MPs (who earned £67,060 to £74,000 a year plus exorbitant expenses) with a massive send-off.

Most of the £5m fund is to do the necessary things the Government should already be doing like rehousing the people and looking after their physical and mental states but the press are trying to twist it as some magnanimous gesture on her behalf …NO, it is almost an insult considering that these people have lost relatives, friends, and EVERYTHING in their lives and have to start again and you are giving then £5000 when you can give 4 and 5 times that amount to politicians who don’t need it and STILL think that’s not enough for them you pompous, inhuman woman!!!

I would ask you, beseech you, to do better but I am now convinced that you are incapable of doing any more than this and we are seeing you at your ‘best’ already; and what we are seeing – at times of adversity for so many people – is appalling.

Sexism and double standards in Canadian school

Seemingly a Canadian school principal agrees that that girls’ clothing and bodies is ‘putting boys at risk of having a distracting working environment’ and that the school would ‘continue to enforce the dress code, which bans short skirts and states that “cleavage”, “navels” and “bra straps” must be covered’.
 
I just wonder if she will enforce a similar dress code for boys, making sure that THEIR bodies are covered, so that they can’t show their lovely muscular legs in shorts, or show their uncovered chests, belly buttons/navels, or the top of the boxer shorts over their trouser waist bands because, you know, we have to ensure that the girls have a distraction-free learning environment too and the poor females can’t keep their lust free gaze away from those male bodies, or control themselves either, can they?!? /sarcasm
 
#sexism #doublestandards