What is Vascular Ehlers Danlos Syndrome (VEDS)?

VEDS is a rare, single-gene, autosomal dominant disease caused by mutations in the body’s COL3A1 gene, and is the most severe and life-threatening form of Ehlers Danlos Syndrome (EDS). Estimates vary, but the most recent state the disease affects approximately 1 in 50,000 people. The result is an impairment of the body’s normal formation of collagen, the glue that holds everything together, causing weakening of the skin, organs, arteries, and blood vessels. Individuals with VEDS present with symptoms like easy bruising, thin skin and hypermobile joints that are prone to dislocation. The vascular type, in particular, can very easily go undiagnosed because on a day to day basis, many patients do not experience noticeable symptoms. Instead, the disease is episodic, revealing itself in spontaneous arterial or organ ruptures, making it especially dangerous. Those who present with symptoms of pain in a hospital setting need to be treated immediately as trauma patients, and intervention must be carefully decided on, as surgery often leads to further trauma and events. Sadly, the average life expectancy for those who suffer with VEDS is a short 48 years, though many experience life-threatening episodes long before this age. There is currently no treatment and no cure. Patients are advised to avoid certain activities, such as contact sports, surgeries and pregnancies, that put a great deal of stress on the body. Additionally, many are prescribed beta-blockers or angiotensin-receptor blockers to lower their blood pressure in an effort to take some of the stress off of their blood vessels and arteries, along with a regimen of Vitamin C. Medical and surgical intervention are continuing to improve with increased awareness, but a great deal of research is still needed to fully understand the disease and its natural progression, as well as to learn more about potential treatment options and therapies. 

Click here to find links to further information and other VEDS organizations.

​Who are we?

The DEFY Foundation is a volunteer-run organization that was created in 2014 in honor of the Yasick family, who knows first-hand the terrifying reality of life with VEDS. In 2006, Darlene Yasick, the matriarch of the Yasick family, lost her son, Steve, at 40 years old. Soon after, the family made the connection that Darlene’s husband’s death at the age of 48 was also due to VEDS. Four years later, she lost a second son, Tom, at age 42, and then in 2013, a third son, Mike, at age 49. All of these men were loving husbands, fathers and uncles, and the disease did not stop there. The loss of Mike was followed seven short months later by the loss of his son, Chris, at only 25 years old. The Yasicks now live with three additional positive diagnoses and the potential for more. For a disease that is not well known or understood, even within the medical community, the Yasick family has suffered devastating tragedy at its hands. We know that this family is not alone, and that countless others have similar stories to share. We want to be a source of hope for all those living with VEDS and those around them that are impacted by it. It is our goal that one day, no one will have to experience the devastation it can cause.

Meet the members of our Board of Directors here, watch a video about the Yasick family here, or read our press releases here!

What do we do?

Our mission at the DEFY Foundation is two-fold – to raise awareness of Vascular Ehlers Danlos Syndrome and to raise funds to aid in medical research of the disease. Unlike more common diseases, it is likely that unless you or your family has been directly affected by it, you may never hear of VEDS. With so few people recognizing the disease and so few being tested, it is not high on the priority list for medical researchers and investigators. Additionally, while there is currently no treatment or cure, there are some precautions that can be taken to prevent undue stress on the body. That being said, preventive measures are not helpful if people remain undiagnosed and thus are not able to take them. Through the DEFY Foundation, we would like to change that. We continue to build relationships in the medical community, including with other nonprofit organizations that advocate for rare diseases, in hopes of bringing light to VEDS. In an ideal world, every doctor would be knowledgeable of the complications of this disease and know what to do if someone presented with it in an emergency situation, and the public would be knowledgeable of the symptoms so that they could seek diagnoses for themselves and for their loved ones. Our efforts are aimed at bringing us closer to that ideal world.

​Additionally, while there is currently research and funding for Ehlers Danlos Syndrome as a whole, much of that goes toward the more common types, such as the hypermobility type or the classical type. Because the vascular type is less common, it does not elicit much research. In fact, there are only a handful of doctors worldwide that have established laboratories and research teams and have conducted studies specifically for VEDS. It takes an incredible amount of funding to keep these laboratories running, and unfortunately, largely due to the rarity of the disease, that funding is not readily available. In 2016, the DEFY Foundation donated $25,000 to the distinguished Dr. Hal Dietz at the Johns Hopkins School of Medicine to help recruit an additional researcher for his team. In 2020, we were able to donate an additional $40,000 to support his continued efforts in studying VEDS. This donation was accompanied by two additional donations in 2020, which included $5,000 to the VEDS Collaborative, a group of VEDS stakeholders working to develop patient-centered research, and $10,000 to The VEDS Movement, an organization that provides many valuable resources to both the medical and patient communities. 

In our efforts to promote and support research on VEDS, DEFY is also proud to have had the opportunity to host two international scientific meetings to bring together the most prominent minds in the VEDS scientific and medical communities to discuss their research findings, gaps in the current research, and collaborate on plans for the future study of the disease. The 2nd Vascular Ehlers Danlos Syndrome Scientific Meeting was held in Amsterdam in May 2018 and the 3rd Vascular Ehlers Danlos Syndrome Scientific Meeting in August 2019 in Nashville. In 2021, DEFY hosted the 4th Vascular Ehlers Danlos Syndrome Scientific Meeting virtually, with the support of The VEDS Movement and The Marfan Foundation. We look forward to continuing to host these meetings as often as possible to provide a platform for open discussion and collaboration amongst researchers and clinicians.

All of these efforts are the direct result of the generosity of our donors, and for that we are truly grateful.