In loving memory of Kathryn Edwards

Kathryn Edwards passed away on Friday 11th Feb in the early morning aged just 33.

She went into hospital with appendicitis, unfortunately sometimes people with her condition suffer more stress during even the most basic of procedures and this time, though she fought fiercely, it was too much.

We, on behalf of her family, are raising money to give this beautiful, strong and dearly loved woman the send off she deserves. All proceeds will go to Kats family and loving boyfriend Alex.

Kat suffered with Vascular Ehlers-Danlos Syndrome, or VEDS, is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs, and tissue together. It also plays an important role in helping the body grow and develop properly.

Connective tissue is made up of proteins. The protein that plays a role in VEDS is called collagen III. VEDS is caused by changes (or mutations) in the gene called COL3A1 that tells the body how to make collagen III. These mutations can result in faulty collagen III throughout the body or a reduction in the amount of normal collagen III in the body (depending on the mutation type). This creates the features and medical problems associated with VEDS.

Because collagen III is found throughout the body, VEDS can affect many different parts of the body, including the arteries, hollow organs, skin, and lungs. These systems can be prone to tear, which can be life-threatening.   

Although VEDS is quite variable, people are often diagnosed when they have easy and frequent bruising that is not explained by other causes and spontaneous bowel and arterial tears or ruptures. Some people have characteristic facial features, thin skin, and tissue fragility. 

The risks of life-threatening events can increase with age. This makes it very important for people with VEDS to receive accurate, early diagnosis and monitoring. Otherwise, the risk for potentially life-threatening complications is greater. The earlier the diagnosis is made, the easier it is to make life-style changes and establish a care plan that can lower the risk of life-threatening complications. The majority of children with VEDS who are diagnosed before 18 years of age are identified because of a positive family history. Approximately half of the children tested for VEDS in the absence of a positive family history present with a major complication at an average age of 11 years.

Major complications in childhood are very rare and death prior to the age of 10 is less common. In late childhood, some of the facial features of VEDS become more apparent, bruising may increase because of activity, spontaneous pneumothorax (lung collapse) may occur, and colonic ruptures sometimes occur, usually in the sigmoid colon. By age 20, about a quarter of those with a known VEDS diagnosis have had a significant complication, such as bowel rupture, arterial rupture, or spontaneous pneumothorax. Some of those with VEDS may develop a prematurely aged appearance, especially on the limbs with acrogeria or old appearing hands and feet. Even with these outward features, the diagnosis is not commonly considered because VEDS is thought to be a rare condition and most clinicians have only heard about it.