by D. A. Roach
Brogen and I were expecting a beautiful baby boy in three months. There was still no cure for VEDS, but they had several treatments that I had started to try and keep the complications away. Besides the colon tear I had in high school, I made it through the colostomy bag reversal without any problems. My scars were awful, but it was better than having to deal with the bag. Nothing else besides bumps, bruises, and some wicked cuts. Several of our friends on the facebook support page had passed. Each hurt as if we lost a family member, and a little hope died with each one. They were all “healthy” and died suddenly. Others we knew were dealing with dysautonomic symptoms (including their body not moving their stomach contents), some were in hospice and planning their own funerals, and others were living happy lives past their 48 year expiration. It was such a crap shot. Brogen helped me keep my head on and look just two steps in front of me.
“Let’s get it over with.” I stood and opened the door to the apartment for Brogen. When the sun shined on her face, she looked radiant. The pregnancy made her cheeks flush more often. She was so beautiful and she was mine. The baby she carried was a symbol of our love for each other. Brogen had been trying to get me on board with having a baby for over a year. She hadn’t convinced me - with a 50/50 chance of giving VEDS to my kids...I couldn’t live with myself if I knowingly passed this to my kid. I couldn’t watch them deal with it. Then Brogen chatted with one of our facebook support friends who did a procedure called PGD (preimplantation genetic diagnosis). They could identify if the fertilized eggs had VEDS and only implant the ones that didn’t. When she suggested we try it, I agreed. Our friends and family supported us, but strangers who didn’t know the horrors of this disorder chided us and said we were “wrong to play God.” We no longer shared with strangers and acquaintances….not worth the hassle.
The drive across town only took twenty minutes and my hands felt sweaty. “So if I say ‘I think we should get milk on the way home’ that’s the signal it’s time to leave.” When I married Brogen, I started going to a new therapist. She had me create an escape plan to feel more at ease with telling my dad. Brogen had a hard time understanding why I felt this way. But even though he hadn’t been in my life, he was still my dad. I still loved him, and I still hoped he’d be happy for me. But I feared the news would unsettle him. He knew VEDS was hereditary and was sure to make him worry his grandchild might have this terrible disorder.
Brogen rang the doorbell and I wrapped my arms around her, splayed my hands across her growing baby bump. I could do this, I had my girl and my baby. My dad opened the door, he looked from me to Brogen - to Brogen’s large belly, then he rushed out to embrace us. “Hi Dad,” was all I managed.
Addendum
Vascular Ehlers-Danlos Syndrome (vEDS)
The estimated prevalence of vEDS is 1 in 50,000 to 1 in 100,000.
This is not a brand new disorder. A German physician named Georg Sack first recognized it in 1936 and he named it Status Dysvascularis. Since then, other names have been used to describe it: Familial Acrogeria, Sack-Barabas Syndrome, Ehlers-Danlos Syndrome, type IV and/or vascular type. More recently it has come to be known as: Vascular Ehlers-Danlos Syndrome (vEDS).
Vascular Ehlers-Danlos Syndrome (vEDS) is a dominantly inherited, life-threatening connective tissue disorder which results from mutations in the COL3A1 gene. This gene controls the production and assembly of type III collagen. Collagen is the most abundant protein found throughout the entire body. This is what gives connective tissues its strong structural support that acts like cellular “glue” that strengthens and holds your entire body together. Mutations on this gene results in structural dysfunction of the collagen bundles within the connective tissues at the molecular level. These types of mutations cause weakness and fragility to internal organs (GI tract, lungs, liver, spleen, kidneys, bowel/colon, bladder and uterus), arteries and veins that are rich in type III collagen.
Diagnostic Criteria for Vascular EDS (vEDS – old type IV) include:
Major diagnostic criteria:
-Thin, translucent skin (especially noticeable on the chest/abdomen)
-Easy bruising (spontaneous or with minimal trauma)
-Characteristic facial appearance (thin lips, philtrum, small chin, thin nose, large eyes)
-Arterial rupture
-Intestinal rupture
-Uterine rupture during pregnancy
-Family history, sudden death in (a) close relative(s)
Minor diagnostic criteria:
-Acrogeria (an aged appearance to the extremities, particularly the hands)
-Arteriovenous carotid-cavernous sinus fistula
-Hypermobility of small joints
-Tendon/muscle rupture
-Early-onset varicose veins
-Arteriovenous, carotid-cavernous sinus fistula
-Pneumothorax/pneumohemothorax
-Chronic joint subluxations/dislocations
-Congenital dislocation of the hips
-Talipes equinovarus (clubfoot)
-Gingival recession
Another unofficial minor criteria: which is a common finding in those with Vascular EDS -
They often sleep with their eyelids partially open.
(This may also occur in other types of EDS as well)
Note: The presence of any two or more of the major criteria is highly indicative of the diagnosis,
and laboratory testing is strongly recommended.
Learn more: edstoday.org
www.annabelleschallenge.org/vascular-eds/
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vEDS can be diagnosed via blood test or skin biopsy.
Advice I have for those just being diagnosed with vEDS:
-Get and wear a medic alert bracelet stating Vascular Ehlers Danlos
-Know the best hospital to get care from in an emergency (it’s often a teaching hospital, or one that can handle rare disorders)
-Educate family, school staff, and your local doctors about vEDS. Because it is rare, you will need to learn about it and advocate for yourself
-Get regular echos, CT scans or MRIs, as well as see your general practitioner regularly
-Inquire about starting one of the medications that have been useful in preventing aneurysms in other connective tissue disorders
-Avoid activities and things that can cause hollow organ rupture or aneurysms
-Avoid elective surgery
-See the top doctors in this field and develop a relationship with them (in the U.S., I recommend Dr. Hal Dietz and Dr. James Black at Johns Hopkins) These docs can advise your local physicians on how to care for you
-Make a lot of memories
-Raise money for research
There is hope!
Researchers have found that several medicines have helped prevent aneurysms in closely related connective tissue disorders such as Marfan’s Syndrome and Loeys-Dietz Syndrome. The medicines do this by keeping the blood pressure low (less strain on the arteries) and also by acting on a protein matrix that affects the collagen. This is not a cure, but it is a positive step forward.
1/3 of the profits from this book’s sales will be donated toward vEDS research (http://www.ehlersdanlosnetwork.org/donations.html)