Thursday, June 25, 2015

Goober Fish of #POMCIsland


#POMCIsland
Welcome to the Island!
Well, we'll tour the island anyway.





My nephew Nate is truly one in a million. His extremely rare genetic disorder isolates him as the one and only person diagnosed with POMC Deficiency in the United States.


"Technical" info I posted previously that I wanted to pull forward again. Please bear with me... 


 
POMC is a genetic disorder.  Nathaniel is actually missing half a gene R236G. (2P23.3 )  Other missing gene disorders more commonly recognized are Downs Syndrome and Prader Willis.  Prader Willis is closer to POMC in characteristics since they both exhibit hyperphagia.  This means that they are always hungry... Always!  Since it is genetic, there is no cure for it.  The symptoms are treated and a lot of attention, dedication, and love are needed to allow Nater to live his life.

Because of the POMC, Nater has many other problems including: Adrenal Insufficiency (AI), which means he has to take steroids for the rest of his life.  If he is sick, his dose is doubled, if he has a fever it is tripled, and if he vomits or passes out he needs an injection.  Another issue is hypothyroidism, meaning his thyroid doesn't work.  The problem here is that he is allergic to the thyroid medicine, causing dehydration and upset stomach... resulting in vomiting and a needed injection of steroids.

A third major problem is called hypothalamic.  The 'thalmus' regulates body temperature.  His doesn't work, so he can't tolerate either temperature extreme.  Summer months are difficult for him, making his beloved trips to the beach only possible from October through May due to the heat - even with the two specialized vests, donated to him, that help cool him.

One more major issue this four year old lives with is anterior & posterior pituitary disorder.  The pituitary gland is in the brain and controls the endocrine gland.  An MRI showed that his pituitary is small and abnormally shaped.  This essentially means that if his pituitary gland was normal, he wouldn't have any of the problems listed above.

What does this mean?

What you'd expect from a "normal" healthy and happy little boy. This doesn't damage his spirit though. He's such a happy, sweet and funny child. His infectious laugh can be heard through the many videos shared.

POMC Deficiency has isolated this kind-hearted, fun-loving boy on POMC Island, but his ocean of friends continues to grow as awareness spreads and people send the support and encouragement they have.

Show your support and donate to help Nate with his daily needs. Just click the ribbon. 

My sister, Nate's mom, goes this alone. She stands strong as a single mom. I'm proud of her and her strength as she also faces health issues of her own on top of caring for her amazing son.

So, this list of what Nate deals with is also a list of what his mom deals with from the other side.


P.O.M.C. can lead to life threatening complications.

Nate deals with:
1)Hyperphagia (insatiable HUNGER) *A LIFE THREATENING ISSUE
2)Hypothyroidism *A LIFE THREATENING ISSUE
3)Adrenal Insufficiency *A LIFE THREATENING ISSUE
4)Hypothalamic Disorder *A LIFE THREATENING ISSUE
5) Hypotonia~Low muscle tone
6) Developmental Delays 
7) Increased linear growth (he is tall and big) 
8) Anterior/Posterior Pituitary Disorder
9) PDD/NOS~ Many Autistic tendencies
10) Sensory Processing Disorder (SPD)
11) Low metabolism~ his diet must be 60% less than the average 
12) Severe Obstructive Sleep Apnea (OSA)
13) Megalencephaly 
14) Trichotillomania 

Join the community and show your support by clicking on the picture.
You can also get your own band for a small donation.


Every day with Nate, affectionately called "Goober Fish" by his mom, is a struggle, a blessing and an inspiration. This is why I'm writing a book:

Goober Fish of POMC Island

In this book, we'll meet the goober fish and join him on his adventures of learning and life, one of the few souls among us that overcomes all odds with humor and a contagious smile & laugh.





Wednesday, June 24, 2015

My book voices tell me to speak

Work keeps me busy daily now. What an amazing feeling. 

Current projects: 

3 YA novels (Covers not revealed yet)

  • The Sword of Israj (Tunuftol book 4): Science Fantasy
  • For: Giva de Vine (Payton Chronicles 2): Soft Sci-fi/Paranormal
  • Chasing Glass (book 1): Post Apocalyptic/Dystopic Paranormal

The Adventures of AkaPaca & Tatter-Anne: Great Friends
layout concept art

Welcome to the Farm
concept art

3 Picture book series (2 with others illustrating)

  • The Adventures of AkaPaca & Tatter-Anne
  • Welcome to the Farm
  • Goober Fish of POMC Island







3 ShortBooks




  • Sassi Kay (YA)
  • The Ice-bot (RL 2-3)
  • Frosted Pony (RL 2-3)
I also have a blog tour coming up for To Eris - Human that you can still sign up for (to review or not to review, that is my question)




 Goober Fish of POMC Island is a special project of mine. My nephew is the one and only person in the USA diagnosed with the rare genetic disorder known as POMC Deficiency.

Check out my post tomorrow to learn a bit about it and the amazing boy that lives with it.










Monday, June 15, 2015

Cover Reveal: Shattered - The Russian Guns # 5 by Bethany-Kris @BethanyKris @sparklebooktour

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Presented by: Sparkle Book Tours
Sparkle Blog Button


cover reveal





shattered covergif

 

Shattered - The Russian Guns # 5
by Bethany-Kris
 
Audience: Adult 18+, New Adult - Genre: Contemporary, Suspense, Organized Crime - Format: E-book & Paperback  - Publisher: Bethany-Kris - Cover by: Jay Aheer - Editor: Elle Leigh - Pages: Full length novel – 100k - ISBN: 978-0-9937797-6-3 - Expected Date of Publishing: July 2nd, 2015
 
 

blurb

“Don’t fall in love with me. I ruin beautiful things.”

Love made him this way, but life makes him stay.

Life doesn’t give a redo. There’s no rewind or pause button to take you back or stop time. Once something happens, it happened. The most tragic of those times in his life, the ones he wouldn’t get back and the moments he could never fix, reminded Demyan Avdonin of a bullet meeting glass.

The impact of the bullet doesn't break the glass into pieces, but instead, leaves behind a single hole surrounded by a spider web of cracks. Fragile cracks that, when handled with the utmost care, would splinter into shards of what used to be.

Demyan thought he had been broken beyond repair once, four long years ago.

He was wrong.

She touched the glass, unknowing of the cracks holding him together. These are the broken pieces of a shattered man and the woman who made him live.

Life made him this way, but love makes him stay.

 

book links


excerpt

Something was happening to him, and it was because of her. He was letting it happen because he liked the way she got under his skin, made him think, and forced him to feel. Even if it wasn’t always fucking pretty.

Demyan wasn’t sure how he felt about that other than the fact he didn’t want to think about it at all. Hooking up was one thing, but acting cozy was completely different and not what he should want.

“Demyan—”

“Don’t,” he forced out.

“But—”

Demyan turned on his heel, a hand flying up in the air to stop her from saying another thing. He made a swift beeline for the front door, grabbing his jacket off the back of the couch where he tossed it the night before.

“Demyan!”

At the front door, he tugged on his coat before yanking on his shoes.

“Demyan, please just wait a second,” Claire pleaded. “Please!”

Her cry sliced him straight down to the fucking bone. Like it ached in his heart because he was the one making her hurt. She was just feet away from him. Christ, he could reach out and touch her, soothe her if he wanted, but he couldn’t.

“Don’t do that,” Demyan said sharply, standing straight and trying to force back the rising anxiety and anger.

Claire snapped away from him as if he’d stuck out at her with his hand. “Do what?”

“That.”

“I don’t understand wh—”

Demyan waved at her. “That right there. This can’t be something. We can’t be something. Don’t do that.”

“Demyan, you’re freaking out over nothing.”

No, he wasn’t.

There were tears in her eyes. They weren’t falling, but they were there. She was hurt by his rejection, and he didn’t know how to handle what was going on inside his head and heart. So, it was pretty goddamn simple for Demyan. He needed to stop whatever this was before it went any further. Straight for the kill, like any good monster would do.

“Don’t fall in love with me. I ruin beautiful things.”

Claire flinched. “Why would you say that?”

“You can’t fall in love with someone like me and you certainly can’t afford to believe there’s something here or that you can make me better again. I am broken—unobtainable and unfixable. I don’t need a fucking martyr in my life. I’ve got enough of those as it is.”

“Ouch.”

“Just … don’t.”

“Fall in love with you.”

“Exactly,” Demyan muttered.

“Why would you say that?” she repeated.

Wasn’t it obvious?

“Claire—”

“Why would you tell me not to fall in love with you and then in the next sentence, call me beautiful?”

Because she was.

 

 

about the author

Bethany-Kris is a Canadian author, lover of much, and mother to three very young sons, one cat, and two dogs. A small town in Eastern Canada where she was born and raised is where she has always called home. With her boys under her feet, a snuggling cat, barking dogs, and a spouse calling over his shoulder, she is nearly always writing something ... when she can find the time.
 

 

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