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:
-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.