When A Sneeze Can Kill: Living Life With Deadly Rare Genetic Disorder, Vascular Ehlers-Danlos SyndromePosted March 1, 2018
“Vascular Ehlers-Danlos syndrome is a killer, a silent assassin that has the power to take away a life in the blink of an eye. It is no joke. There is no cure and no real treatment. It is relentless. It doesn’t just affect individuals, but it affects whole families, often taking the lives of multiple family members prematurely.” says Matt Smith of Lincolnshire in the United Kingdom, whose miraculous survival of a spontaneous intracranial carotid artery dissection in 2012 left his doctors at a loss to explain how and why.
“I figured that there must be a reason why one of main arteries in my head had just decided to tear, after all,” recalls Matt, who was in his early thirties at the time. “I was questioned as to whether I had received any blunt force trauma to the head, which I hadn’t, but something must have caused this.”
DOCTOR GOOGLE AND THE SEARCH FOR UNDERSTANDING
Desperate for answers, Matt stumbled onto vascular Ehlers-Danlos syndrome (vEDS) in a Google search. He was stunned to discover that a vEDS diagnosis would explain not only his symptoms but his family’s recurrent health problems as well. His father had suffered from multiple arterial dissections, heart attacks, and strokes beginning in his thirties. His father’s mother had also passed away at an early age.
A year later, Doctor Google proved correct, as Matt, his sister, and his father all received positive vascular Ehlers-Danlos syndrome diagnoses from a prominent geneticist.
LIVING LIFE ONE PAINFUL MOMENT AT A TIME: A ‘SCARY PLACE’ CALLED VASCULAR EHLERS-DANLOS
Vascular Ehlers-Danlos syndrome is caused by a mutation in collagen type III, a connective tissue protein present in the vascular tissues. Individuals with vEDS have thin, fragile skin and hypermobile joints, with arteries and organs that are also fragile and prone to rupture. These complications can be life-threatening.
“The world can be a scary place with vEDS,” says Matt, now 37. “There’s an underlying fear of major complications. It can often be put to the back of the mind, but it’s always there, lingering in the background and eating away at you. A sneeze that jolts your body with the potential to cause an arterial tear or rupture. A common cold with a constant cough that could collapse your lungs. Simple problems that could lead to major complications.
“There are decisions that have to be made on a daily basis, which are essentially decisions that could lead to a life or death situation. On the outside, I look healthy and able-bodied, but on the inside, it tells a different story. Carrying a shopping bag that’s just that little bit too heavy could just put too much of a strain on the vascular system. Kicking that football when playing with your son could lead to the rupture of a single vein in three places on the leg from one kick. There’s a balance that has to be made between living life and keeping safe. Constantly weighing up the risks of any given task to see if it is potentially worth putting your life at stake.”
On a daily basis, Matt experiences chronic joint pain, constant bruising, migraines, gastrointestinal problems, and ruptures in the veins of his wrists, legs, and feet. In addition to the carotid artery dissection, he has also survived a small stroke.
COMMUNITY IS CRITICAL WHEN EVERY MOMENT COUNTS
For far too many living with rare diseases, the sense of being alone in the world only makes matters worse.
“Personally I think it helps to know that you are not alone in what you experience. It also helps when problems arise, because in a community of people who personally experience problems, there is a great collaborative knowledge between them, often greater than that of what the medical community can give at the moment,” says Matt.
Sadly, life with a community of medical zebras has challenges few outside the rare disease world can understand.
“Unfortunately connecting with others can have its drawbacks. Many lives are lost due to vEDS. When you hear of another life lost, it is heartbreaking. These are people that you know, that you have spoken to and have met and it always brings home the underlying seriousness of what major complications can surface,” observes Matt.
INTROSPECTION LEADS TO AWARENESS IN BID TO IMPROVE SURVIVAL
Shortly after his diagnosis, Matt began writing. “At first it was just a way to help me come to terms with the diagnosis. Writing helped me to focus and probably kept me sane. Eventually, I wrote that many words that it turned into a full-blown book. Then, after a lot of thought, Vascular Ehlers-Danlos Syndrome: The Journey Begins was released out into the world through Amazon,” states Matt. Expanding on the success of his writing, Matt expanded his awareness campaign and created an informational website, vedsuk.org.
Matt hopes that his book, website, and other outreach efforts can help bring much-needed awareness to vascular Ehlers-Danlos syndrome. “No doubt about it. There needs to be more awareness, more knowledge and if not a cure, then at least some sort of treatment to reduce some of the major complications that it can cause,” states Matt.
With vascular Ehlers-Danlos, sometimes even a sneeze can kill.Tags: vascular, vEDS
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