G is for...Genetic Mutations

G is for...Genetic Mutations.

In pharmacy school, very little was taught to us students about genetic mutations. My only conversations about mutations were when I talked about the X-men movies. But 3 years ago, my 4 year old was diagnosed with a rare and life threatening disorder, Vascular Ehlers Danlos Syndrome. It's a mutation of the COL3A1 gene, or in simpler terms, a collagen disorder. VEDS  is like having your body be made with faulty glue. While most people have 100% strong glue, VEDS patients have just 15% strong glue...in EVERY cell of their body. Skin tears easily, organs tear or rupture easily, blood vessels develop aneurysms or may dissect, and the cherry on this sucky diagnosis...surgery is dangerous and reserved only in life saving measures. For some reason, when a VEDS patient is hurt, injured, sick - the body goes into this "inflammatory state" where white blood cells head to the injury to try and repair it, but this inflammatory state makes the glue turn to water and VEDS patients fall apart in their surgeon's hands, many do not survive.

VEDS is "rare" but is it really? It is so frequently misdiagnosed or undiagnosed throughout the world that it is estimated that only 5% of people with EDS (the common and less deadly form) have actually successfully been diagnosed. The other 95% do not know they have it. The VEDS population represent a small amount of that number but VEDS can easily be ruled out with a blood test if doctors suspect it. The numbers are shocking and appalling.

Common VEDS signs and symptoms:
-flat feet
-bendy finger joints
-low muscle tone
-veiny chest
-bruises easily or skin tears easily
-family history of early death or aneursyms
-sleeps with eyes open

Unfortunately VEDS patients often experience their first vascular event in the twenties and the average life expectancy is 48 years old. However, many have died in their teens and young twenties and several have lived into their 50's and 60's.

We take our son to see the top doc in this field at Johns Hopkins Hospital every other year. We have him on the medicine they hope will prevent some of the issues and every fall we give a talk at the local med school to educate them on the disorder.

I also wrote a YA romance called Rarity to raise awareness about the disorder. One of the characters gets diagnosed with it and it complicates their relationships. Here's the link to buy Rarity if anyone is interested in giving it a read. http://amzn.com/B00YTETSGK

Where do we go from here?
Onward and upward toward a cure. No, you did not mishear me...a cure. There is a new procedure that has been developed to splice out the gene mutation and recode it with the corrected gene information. This procedure is known as CRISPR. It works on EVERY cell in the body. Scientists all over the world have begun human testing with fantastic results (cured leukemia in a child, muscular dystrophy, genetic blindness to name a few). So my challenge now, is to shine a light on VEDS so that researchers become interested in testing it on this rare disorder.

For more info on CRISPR: http://vector.childrenshospital.org/2014/09/genome-editing-a-crispr-way-to-correct-disease/

For more info on VEDS: http://www.ehlersdanlosnetwork.org/vascular.html




My son is now 7, soon to be 8. I'd love for him to have a chance to live a "normal" life, to not worry that playing football with the kids at recess might kill him. To not worry about lifting something heavy (may cause aortic dissection). Here's to hoping we can get this cured before it's too late.

F is for...Family/friends

F is for...Family/friends.

In my book, there is a big difference between the two. Family will ALWAYS be your family, no matter if you fight or have many miles and years between you...they will still be your family. With that being said, you can't pick your family. Sure you might have some A+ family members, like Aunt Martha who will gladly knit you anything you ask or help in anyway she can. But you also get the D- family members, like Uncle Bobby who doesn't show up to any family functions, and when he does he belittles the other adults in the room. And unfortunately, all too often, there are family members who put on a grand facade of being a perfect family. But upon closer inspection, you'll see through the cracks in the facade to the crap that lies beneath.

Yes, fertilized by bullshit indeed!

But friends, on the other hand, are chosen and friendships can be lost. 

What makes a good friend?

-Someone who has your back

-Someone who makes you feel good about yourself

-Someone who doesn't judge you

-Someone whose company you enjoy

-Someone who won't put you down

-Someone who will help you when you face a tough situation

-Someone who will listen

-Someone who respects you

I also find it interesting that some people have many friends that they are close to, while others have just one or two. One theory behind why some choose one over the other depends on the economy and whether or not people move a lot. When the economy is good, people tend to move making the relationships more shallow but widespread. When the economy is bad, people tend to stay put and build stronger relationships with the people in close proximity to them. 

I'm the kind of person that has one or two close friends...a strong and deep relationship with them.

Do you have many good friends or a handful of best friends?

E is for...Escape

E is for...Escape.

Escaping into a good book at the end of a hard day can be such a treat. You can leave your troubles behind and go on wild adventures, fall in love, and have a wild rumpus! There are a handful of books that, once I began reading them, I could not stop. My favorite of these was the emotional read, Reason to Breathe by Rebecca Donovan. It was a very strong story with the most amazing love that grew between two characters. What a truly talented author she is to use her words to slowly strip away the real world and immerse me into the intense action. I literally had a wooden spoon stirring the spaghetti noodles while the other hand held my book. 

Read because it's good for you.
Read because it's fun.
Read because it makes you feel happy.
Read just because.

I escape every night before bed.

When do you escape into a book?

D is for...Dreams

D is for....Dreams.

When I grow up, I want to be an author.
This was not my dream as a child. I loved to draw and wanted to be an artist. But dreams change as your life changes. And sometimes we get so caught up in the daily hustle and bustle, that we forget our dreams. We stop mid-ladder and get busy on the rung we're on, forgetting that we can still climb higher. I'm guilty of this. When I had kids, life got so busy that I was stuck in the now, trying to get through each day that came. But it is very satisfying to set a goal, strive for it, and achieve it.

So what makes those dreams and aspirations so difficult to achieve? Are we setting the bar too high? Do we lack motivation? Have we been dealt the crap card in life?

In my opinion, the biggest barriers to achieving one's dreams is self-doubt and fear.

When I first started out in the author world, a cousin of mine congratulated me on successfully becoming an author. She said "I would love to publish my poetry someday but I have to become a better poet first." It was a classic example of self-doubt.

I quickly said, "Just do it. I did not wait for anyone to tell me I was good enough before publishing a book. Heck, I was a pharmacist and teacher before this...not a writer! Take the leap, see what happens."

But how do you quiet the inner critic enough to let you bravely put it out there? 

For me, I wrote a story about a time in my life when our chips were down and people, strangers, came to our aid and were so generous. I did not write it to become a writer or be successful. I wrote it to pay homage to them. It's a super short book that I self-published and it's rough...but it tells the amazing story that people have loved hearing for all these years. BOOM! First book published. 

This was all I needed to introduce me to the literary world and the self-publishing process. So for me, the way around self-doubt, was to go in and not expect much. Think of it as more of a spontaneous road trip where you are game for anything VS a planned expensive vacation. The expectations for the road trip are low so every cool site you discover, every cool person you encounter, every experience feels like a win. While the expensive planned vacation may be truly wonderful, there is an expectation. If you shell out good money, you expect to have a good time. But if it doesn't go as planned, there is potential for disappointment.

So where did bypassing my self-doubt leave me?

I now have 2 published books with Limitless Publishing. Here's a pic of them:

But I still have to work at keeping the inner critic in check and probably always will. Have you successfully steered clear of your self-doubt and fear to achieve a dream?

C is for...

Critics.

When I set out to write books, my motivation was to try to inspire at least one person to see the world in a positive way. I hoped that single positive change would have a ripple effect and impact many others. Soon after releasing my first book, I received a private message from a reader telling me she was so moved by my story. I felt I had truly succeeded at using my words to make the world a better place. It encouraged me to pick up my laptop and work on my next book.

But like Statler and Waldorf, the infamous hecklers on the Muppet Show, there are people that boldly vocalize their dislike for something. But is that such a bad thing?

WALDORF: They aren't half bad. 

STATLER: Nope, they're ALL bad!

I'm not gonna' lie, when my book received a 1 star rating, I was crushed. I could not help but read the review to find out why the reader felt it deserved such a poor rating. One of her reasons included, "I found Brogen to be selfish and incredibly rude." The defensiveness came out and I found myself saying, "aren't most 17 year olds selfish?" A five star review for the SAME book said this, "Rarity touched me way more than I ever thought it would when I read the summary." Polar opposites on the review spectrum. And for some reason, Rarity has that effect on readers. It seems you will either fall head over heels for the story or hate it - there's no in between.

So here's what I learned about reviews:

-Bad reviews will exist, if you worry they may shake your confidence...don't read them. Stick to the 4 & 5 star reviews to drive you through your next writing project.

-Bad reviews that offer constructive criticism can be a learning opportunity. I learned that readers of Rarity wished it was longer. They also wished it showed a bit more of the male MC's point of view. These were two important criticisms that I was careful to be mindful of when writing my next book.

-Using a chocolate chip cookie analogy...You can make the best chocolate chip cookies in the world, even win awards for the recipe - but there will still be people that hate chocolate chip cookies.

-What to do if you get a bad review... put the pencil to the paper and keep writing. EVERY book I have written has been better than the one before it. Don't give up. Push forward and get working!

-Shouldn't I comment and correct the reviewer? In my opinion, no. If the reviewer has a history of bad-mouthing and trashing people in reviews, report them. But arguing with someone's review will more than likely not get them to change their review and it's tacky.

When I see a book that has (25) 5 star ratings and (2) 1 star ratings, I go and read those 1 star ratings. And usually, I find I disagree or could careless about the points they mentioned in their negative review. Besides, if all you had were 5 star reviews, people would suspect you had your entire family and friends read and review it!

B is for...

B is for....

Book Boyfriends. 
Mine is Evan Mathews from Rebecca Donovan's Breathing Series.



"Emma, there was never a choice. I will always choose you. Always."
 ~ Rebecca Donovan

When I read the books, I picture Evan to look like this picture of actor Chris Wood.
The series is an emotional rollercoaster about a girl who endures an abusive home life, but has an escape in her charismatic best friend and her loving and supportive boyfriend. It's my favorite book series and worth a read.

Who is your Book Boyfriend/Girlfriend?

A to Z Blogging Begins!

This month I am participating in the A to Z Blogging Challenge. Each day I will blog about something beginning with a letter in the alphabet. Sundays are off so don't look for the awesome posts then.

So to begin...our first letter is:

"A" is for...

Author. 
I am a YA author who has published 2 books with Limitless Publishing. I self-published 4 books before an indie publisher (not Limitless) pursued me and my work. While I didn't sign with that publisher, it got me thinking about trying my books at an indie publisher.


The pro's of going with an indie publisher:
- meet lots of great authors
- support/advice from authors and editors
- facebook following grew from 200 followers (after 2 yrs) to 1300 followers (in 7 months)
- have an awesome street team
- have a PA who helps promote and looks for marketing opportunities
- kick butt covers (they pay for it)
- amazing editors (they pay for it)

The con's of going with an indie publisher:
- the profits are shared with the publisher

Overall, it's been a wonderful move for me career-wise and highly recommend self-pubbed authors to consider indie publishing. Now, if only I had a chance to compare self-publishing and indie publishing to publishing with one of the big 6 publishers!!!! HINT HINT!