R is for…Rarity.
|First cover – my drawing & pic of Soren|
Rarity is my first published novel with Limitless Publishing. It was originally self-published but was accepted by Limitless and received new edits and an awesome cover. My son was diagnosed with a rare and life threatening genetic disorder. But now that we know he has this condition, we can make good choices to keep him safe, have him monitored, and take meds to prevent some of the complications.
Is he cured? No.
But there is hope on the horizon with amazing treatments like CRISPR (genetic editing). So what about those that aren’t diagnosed? Great question. There are so many patients with the same condition as my son that have not been properly diagnosed. So even if a cure exists, if they aren’t diagnosed…it does them no good.
So my goal was to use my talents (writing) to educate others about Vascular Ehlers Danlos Syndrome. Rarity is a book about a teen diagnosed with this disorder and the emotional rollercoaster that all involved endure. I wrote it based on my own emotions from my son being diagnosed. It’s a young adult book, the characters in it are in High School, a time when kids are very much thinking about themselves and how things will impact them. At the back of the book, there is information about the disorder and signs and symptoms to consider. My hope is that someone reading it may have a lightbulb go off and a proper diagnosis can be made on someone not previously diagnosed.
I thought I’d show some of the covers for it as it evolved for your viewing pleasure.
|Final cover – published with Limitless Publishing|
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:
-bendy finger joints
-low muscle tone
-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.