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.
Image result for x-men

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.

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“How far is Brogen willing to go to fight for the one she loves…”
RARITY is a YA Romance Novel by D.A. Roach

★•✩•★ SYNOPSIS ★•✩•★
Brogen Mathers can’t deal with teen drama…
As an empath, she is constantly bombarded with other people’s energies. Despite coping techniques taught by her psychologist mother, it’s often too much to bear, forcing her to avoid most activities a typical high school junior would enjoy.
Jay Wilken won’t let his past define him…
A dead mother and an alcoholic father brought Jay to Stanton, but he doesn’t want pity. His good looks, charisma, and friendly nature quickly win over the whole student body, but he has his eye on one girl…Brogen.
Brogen can’t believe anyone could be so genuinely nice. It has to be an act, right? But when Jay literally saves her from deadly jaws, she has to admit he’s exactly what he appears, and he’s worth risking the potential emotional upheaval.
“Drama” might as well be Becca Grant’s middle name…
Another newcomer to Stanton, Becca’s blonde beauty and abundant attitude shoots her straight to the top of the popularity charts—and she believes Jay belongs right there beside her. Accustomed to getting exactly what she wants, she launches a relentless mean-girl campaign to shake up Brogen and claim Jay for her own.
Everything changes with a devastating diagnosis…
When Jay learns he has a rare and potentially fatal disorder, he keeps it secret and begins to push Brogen away to spare her future pain—which is exactly the sort of opening Becca is waiting for.
As Jay’s well-meaning deception unravels,
Brogen realizes there is much more than her heart at stake…
But how far is she willing to go to fight for someone she loves?
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