Hi! My name is Ashley and this is my fundraising page to help research and raise awareness for Ehlers Danlos Syndrome.  Thanks for visiting and feel free to forward this on to your friends!

What is Ehlers Danlos Syndrome (EDS)?

Ehlers Danlos Syndrome is a genetic disorder that affects the connective tissue.  Connective tissue provides support to many parts of the body such as skin, muscles and ligaments. Collagen acts as the glue that helps to hold the body together by adding strength and elasticity to the connective tissues. The fragile skin and unstable joints are a result of faulty collagen. There are six types of EDS.  People diagnosed with EDS are generally diagnosed with only one type even though they may have signs or symptoms of more than one. The most serious type of EDS is known as the vascular type due to the possibility of arterial or organ rupture.  Spontaneous arterial rupture usually happens in the third or fourth decade of life and may happen earlier. Arterial rupture is the most common cause of sudden death.  Life expectancy is shortened with most people living only into their forties. Pregnancy is not recommended because it can be complicated by uterine rupture and arterial bleeding. Other effects of the vascular type can be premature aging of skin, early onset varicose veins, collapsed lung, collapsed lung with air or gas and blood, and poor wound healing.

Other types of EDS bring on extreme joint pain and frequent dislocations and bruising.  People who live with other types of EDS can live fulfilling lives every day and others may be immobile. It differs in severity and usually gets worse with age. 

My Story

As a child I always had quirky things about me but nobody ever thought these things would add up to something like EDS.  My flat feet, easy bruising, transparent skin, double jointed elbows, small facial features, growing pains, and easily sprained ankles and broken wrist were all things that added up to having signs of EDS.  It wasn’t until December of 2006 that my first serious symptom occurred.  One morning I was getting ready for work when all of a sudden I had a stabbing pain in my groin.  I quickly became nauseated and needed assistance to walk.  A friend of mine took me to the hospital where an x-ray and ultrasound was performed and the doctors found nothing wrong.  I was given pain medicine then sent home.  Over the next few weeks I noticed that it was hard for me to walk  far distances.  Walking from my car into work was a struggle feeling as though I was dragging a dead leg around with me.  I experienced burning pain, tingling and numbness in my right leg all at the same time. Soon I decided to go see my general physician who presumed at first that I had pulled a muscle.  I was very persistent as I begged for something more to be done rather than telling me what kind of exercises to perform to help a “pulled muscle”. The doctor performed blood work and found no reason to be concerned.  My blood pressure was sky high which was the only other hint of something wrong.  Finally the doctor scheduled an ultrasound a few days later.  Immediately after the ultrasound I was told to go back to my doctor’s office.  There, I was told I needed to go get a CT scan that same day because of the findings from the ultrasound. Better pictures were needed to see if their findings were true. About 2 hours after the CT scan I was called by my doctor to go to the hospital immediately. One month after the initial pain I was told my femoral artery had a dissection and it was causing very little blood and oxygen to travel to my leg, which is what was causing my pain. Once I arrived at the hospital I would meet a cardiologist and a vascular surgeon.  I had no idea that in the next 48 hours my life would completely change. A stent was placed in my right femoral artery and I spent the next 12 hours in ICU. Even though the immediate issue was repaired, questions were still flying as to why this was happening to someone at the age of 23.  I was released from the hospital after being there for 2 days and was told to visit a rheumatologist to be evaluated to learn if this was a rare occurrence or if this was something more serious.  After a few visits with the rheumatologist he suggested that I get a skin biopsy taken to test for Ehlers Danlos Syndrome. This was something that was unheard of to my family and me and upon doing our own research we had reason to believe that the rheumatologist may have been on the right track. A skin biopsy was taken and sent off to a lab in Seattle that studies EDS. In the mean time it was recommended by my Cardiologist to visit the Mayo Clinic in Minnesota to visit a vascular surgeon, a genetic counselor, and to get scans that would provide better pictures of my abdomen, neck and head.  Accurate measurements were taken of abdominal aneurisms that were seen in the original CT scan and were confirmed that they were not of immediate concern, but needed to be monitored. It was confirmed that my carotid arteries (located in the neck) needed to be watched closely because they seemed to have similar capabilities that my femoral arties did for rupture or dissection.  These arteries contribute to the blood and oxygen that moves to the brain so more severe problems could arise. I gained a lot of information in talking to the doctors at the Mayo clinic.  About 8 weeks after the skin biopsy the results were back and it was a confirmed diagnosis of Vascular Ehlers Danlos Syndrome.  Since December of 2006 I have not experienced any other complications.  The key element will be to monitor what is going on in my vascular system; however nothing can be predicted because most occurrences are spontaneous.

Throughout everything I had the great support of family and friends. I had to begin looking at my life in a different way. All of a sudden the idea of having my own biological children was taken away from me and I was faced with the statistic that my life expectancy could be shorter.  With the support from people close to me I began to see a new path for me.  I am now excited about the possibility of adoption when I get to that point in my life and I take things day by day instead of month by month or year by year.  I value my family more now than ever and appreciate all the close friendships I have.  Even though I have been able to shed light on my situation, there is still the down side.  The fact is that research is happening to try to find ways to help the different types of EDS however there is no sign of a cure anytime soon.  Researchers are hopeful that there may be a way in the future to destroy the gene that causes EDS but they see those finding being 10 or more years away.  So it is possible that in my life time there may be helpful findings, but until then all I can do is monitor my EDS with regular CT scans, ultrasounds and blood pressure medications. Currently a study is going on that is directed specifically towards the vascular type. I feel that I can do my part on helping research to keep it funded. Every dollar will help research and bring people with EDS more hope in finding a cure.

EDS is known as the Zebra syndrome.  This comes from the fact that it is very hard for people to be diagnosed because on the outside and in X-rays people will look completely normal since the issue lies within the connective tissue.  People often times get miss diagnosed or never get diagnosed at all because doctors are not familiar with EDS.  They may learn about it in medical school; however it is very rare to come across a person with EDS.  EDS is said to strike 1 in 5000 people and the vascular type is 1 in 100,000.  Several cases of the vascular EDS are often diagnosed after death because the first complication is what caused the death. 

In the future I will be using other outlets of fundraising and awareness. This page will be my primary way to show the progress of contributions.  I appreciate every donation big or small and so will thousands of others who live with Ehlers Danlos Syndrome. I will keep this page updated with any events happening so stay tuned for fundraising information in the future.

Stay Beautiful,

Ashley