We gave our youngest son the name of Andrew because it means “strong and manly.” When I was pregnant with him, a routine ultrasound showed that he would be born with clubbed feet. We knew then that he would need all of the strength he could get. Shortly after he was born, we took him to Shriners to correct his feet. We were reassured there that often times clubbed feet are not an indicator of other congenital conditions and that once they were corrected, Andrew would be just fine. Unfortunately for his case, that did not end up being true. In addition to his clubbed feet, he slept with his eyes open and his skin was soft like velvet. Even as a baby, he would develop random small bruises all over his torso. As he grew from infant to toddler, it was impossible to hold his hand because as if by magic, he was able to wiggle out of any grasp.
When he was about 18 months old, we switched to a new pediatrician who was a former colleague of mine. He was very concerned about Andrew’s bruising and sent us to a hematologist to hopefully get some answers, but everything came back negative. The pediatrician’s next step was for us to get on a waitlist for a geneticist. The wait to see a geneticist is not a short one. In this case, we were told it would take two years. The pediatrician suspected that Andrew had some type of Ehlers-Danlos Syndrome (EDS). In the meantime, Andrew had a routine appointment at Shriners and I mentioned the suspicion of EDS to a resident. They recommended that while we wait to see a geneticist, we should get an echocardiogram and EKG so that it would be in his file already when we finally saw the geneticist. That recommendation ended up saving us the two years of wait time as the echocardiogram found a dilation in one of Andrew’s arteries and he was quickly referred to a genetic cardiologist. Within a month, we had his diagnosis of Vascular Ehlers-Danlos Syndrome (VEDS).
VEDS is one of thirteen different types of Ehlers-Danlos Syndrome and is recognized as the most deadly of them all. People with VEDS are at risk of spontaneous rupture of blood vessels, bowels, lungs, and other hollow organs. At the time of Andrew’s diagnosis eleven years ago, the average lifespan of someone with VEDS was 49 and most diagnoses were made post-mortem. Other than a handful of scientific articles, the only resources were a very active Facebook group of VEDS patients and family members, and a couple small non-profits local to their areas. There was and still is no treatment or cure for this condition but the situation is quickly evolving.
Since Andrew’s diagnosis, there has been growing momentum in support and research. The Marfan Foundation has taken VEDS patients under their wing with our own arm called The VEDS Movement. With motivated doctors working on a national level who are listening to the needs of VEDS patients, the amount of research into this syndrome has exploded with many research papers about diverse effects of this disease. We have had two clinical trials which were both cut short at one point or another due to funding issues. One is currently back up and running. We have also observed that when the diagnosis of VEDS is known and successfully communicated to physicians, the outcome of surviving life-threatening events greatly increases. We are now seeing within our population people living into old age.
Our experience with this rare condition has highlighted a couple barriers to care:
- Ease of access to a diagnosis. I am grateful to all of the physicians who led us to Andrew’s diagnosis. However, we did not get there in a timely way without constant advocacy. Had I not heeded a resident’s words, we would have waited years rather than months for a diagnosis. There needs to be a better way to have access to diagnostics.
- We need more support for FDA testing for drugs for rare diseases. Countless lives from thousands of rare diseases are being lost due to the expense of bureaucratic red tape and the lack of profitability for companies to manufacture these drugs.
Sarah Jeffs