I saw a Clinical Pharmacologist this week about my Dysautonomia. I have been told I have Ehlers-Danlos type 4… the vascular type

(one of my cousins dislocated both hips at age 5 and later survived burst brain aneurisms, another survived uterine rupture etc) and it can commonly go with dysautonomia (which me and one of these two cousins both have) and the arthralgia etc… Vascular EDS is not good news but probably explains a lot of my health complications including on the gut and immune front as it can cause functional malnutrition… so very glad I’ve been supplementing since late childhood. It would also explain my ‘shy veins’, the 15 cm bruise I had from the IV during chemo, all the abdominal adhesions found during my ovary op in my 30s (the perplexed surgeon thought I must have had previous multiple abdominal surgeries!), why one of my healed mastectomy scars has widened (the middle is now 1 inch in width), the umbilical hernia I got in my 30s, my spine issues, the bowel issues, the popping veins in my fingers, CFS/FM history, tendency to edema, joint (ankles, knees, hips) subluxations since my 20s, my diagnosis with juvenile arthritis in late childhood, and URI infections, very easy large bruises, being extremely pale, bleeding gums and circulatory issues since childhood, pulsatile tinnitus etc. The two benefits were hypermobility in my spine (I can get my feet to my shoulders), hips (can still do the splits) and shoulder joints (can link my arms up my back) but not much use except for momentarily impressive party tricks and wonderfully young looking velvety skin (but oldish looking hands).

I refuse to see EDS IV as a death sentence. Whilst average life expectancy is 40, some have made it to their fifties, , and still going, to 65 and another lived to 73 years old! Whilst EDS IV is generally thought of as autosomal dominant, in some people its apparently polygenic, meaning the severity any family member gets may depend on the mix of mutations both parents contribute.

Most forms of EDS is 1 in 5000. The Vascular type is presently 1 in 250,000. So very rare but these figures may well be based presently largely on those with more rampant frequency and severity of ruptures, and families with lesser frequency may remain undiagnosed.

EDS IV is usually familial, can skip a generation, skip some siblings but can also spontaneously appear in a family its never occurred in – called a de novo mutation. My older brother may have had some degree of it but my younger brother (who has diverticulitis, joint, spine and other issues) has more indications of having inherited it.

EDS does have some overlap with autism so the two can occur and the child of one of my cousins is hypermobile, has some of the health picture of EDS and is dx’d with autism. So in case this is undx’d in other families I’m sharing the info.

Sure, in addition to Autism, maybe as part of it, I’ve lived with primary immune deficiencies, food allergies, a dodgy bowel, growth problems, severe sudden abdominal stabbing pains (later profuse abdominal adhesions were found) the juvenile arthritis, then CFS/Fibromyalgia, then the life long symptoms of dysautonomia flared, I got Breast Cancer, came through it and got diagnosed with degenerative Spinal Stenosis the then Central Apnea. But EDS 4 is probably not an additional condition, it is probably the underlying foundations that either caused, predisposed or increased the likelihood of everything else. I know EDS IV is meant to be a ‘death sentence’ but I actually feel really lucky! I have really enjoyed the good, bad and ugly. I’ve made the most of my life, its been a wonderful ride, a wild ride, an adventure. I have known all the textures, colors, highs and lows. I have made the best with all I have. I am the master of ‘take shit and make sculptures‘. So if EDS 4 burst a few veins tomorrow and killed me, or ruptured my bowel, well so be it. I have a cousin who survived brain aneurisms, another who survived uterus rupture, and only 2% of those who have bowel rupture die from it… and now I know that could happen and that an ostomy bag could be my future, so what! I’d still get to enjoy life till it was just not going to sustain me any more. I had my breasts removed last year. I’m on medication to keep my estrogen turned off. I live with enough food allergies and food intolerances to constitute a ‘dietary wheelchair’ and have to take a lot of supplements and minerals that would make anyone’s head spin just so I keep my bedraggled autonomic nervous system limping its way along. I may need back surgery sooner or later if I want to keep my left leg’s ability to walk. So really, an ostomy bag would be just one more part of ‘fall apart syndrome’ and my management of it. In other words I’m not scared.

Other folks with EDS 4 died by their teens, 20s, 30s, 40s… I’m 49 so having a very long life with it! Also many have far worse health issues with it that me… I have a lot, sure… but I haven’t had any major organs rupture yet, no aneurisms, no diverticulitis, just a few popping veins in my fingers and palm. The progressive mobility challenges, spine degeneration, feet and hand problems, dysautonomia… compared to organ rupture, bowel perforation and brain aneurisms I got it GOOD so far. Its about comparing like with like.

I have ambition to become the oldest living person with EDS 4. A woman aged 58 wrote she is the oldest her doctor knows of. Then I read a post by a woman who is 65 with EDS 4… sure doing it real tough by then with fall apart syndrome… but at 49 they make me feel not like I have a death sentence hanging over me, but like I have a longevity challenge to live up to.

My husband came across an article about the use of Doxycycline in mice with EDS IV. It was found to reduce aortic aneurisms three fold. I was put on prophylactic Doxycycline daily since 2009 because of IgG2 deficiency. Nobody knew then that I also had EDS IV. Did it help delay or reduce my issues? This summer, the GP allowed me to take a break from the Doxy. I took a break in October. My dysautonomia, joint pain, feet pain, hand stiffness all worsened. I also began getting stabbing pains in my toes and arm. Could be just coincidence, but I’m going to follow the mice and go straight back onto the Doxy.

Here’s info on Ehlers-Danlos type 4 (vascular type):

This type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin. This is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.

Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.

Joint hypermobility. Tendon and muscle rupture can occur. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingivalrecession and complications during and after surgery (i.e. wound dehiscence).

The Vascular Type of EDS is caused by structural defects in the proa1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.

from: http://www.med.nyu.edu/content?ChunkIID=128098

Donna Williams, BA Hons, Dip Ed.
Author, artist, singer-songwriter, screenwriter.
Autism consultant and public speaker.
http://www.donnawilliams.net

I acknowledge Aboriginal and Torres Strait Islander people as the Traditional Owners of this country throughout Australia, and their connection to land and community.