Dr. Anthony Yasick
I take pride in trying to be a good anesthesiologist, but that hasn’t helped much in keeping my family from being devastated by a rare genetic disease called Vascular Ehlers Danlos Syndrome (VEDS). So far, I have lost my dad, all three of my brothers and a nephew to this disease. Unless something changes, there will likely be more.
My dad died suddenly at age 48 in 1989, ultimately from a ruptured hepatic artery. None of us knew why it happened, nor that it was only the beginning.
In 2004, my brother, Steve, was diagnosed with an aneurysm in his iliac artery due to VEDS, for the first time putting a name to a disease we now wish we’d never heard of. He underwent elective open repair in 2006 at age 40 and died after the operation of multiple bleeding complications. Four years later, my brother, Tom, died at 42, from a perforated heart ventricle after a minor heart procedure.
My brother Mike knew he had it for a while. We were friends, like all my brothers, and we talked often about hope and living life fully. Frankly, by now, I was afraid every time I saw his cell number pop up. In 2013, I got the call I had been dreading when he died of a coronary rupture at 49. Later that year, Mike’s apparently healthy son Chris, 25, died suddenly, following a renal artery rupture.
Cruelly, VEDS is far from done with our family. VEDS patients are prone to artery ruptures anywhere in the body, including the aorta, rupture of hollow organs like the intestines and uterus, and lung collapse. Though it’s very rare, it affects 50% of offspring, and patients’ median lifespan is about 48 years. We have already had at least two additional diagnoses, and our family is far from alone. An estimated 6,000 to 8,000 Americans have this disease.
As for me, I ran from the diagnosis for years. I did not want to give up hope that I could avoid the anguish that I had seen my brothers experience while living with the knowledge that they were essentially time bombs. Yet somehow, they still managed to live daily life fearlessly. Meeting them, you might never have known that they had a lethal disease.
Lately, COVID-19 has shown us all what it’s like to live with fear, something that the VEDS community already knows all too well. Facing your own mortality daily is tough. If you’re not careful, it can make you hard and unyielding, but it can also free you from insignificant concerns so you can better be the person you’d like be.
It also means you may face impossible decisions. In our family, none of us knew about VEDS until we were already married and had kids, but I can’t imagine having to choose between never having the blessing of my kids and passing this cruel disease on to them. My niece Emma recently married the special kind of person it takes to choose to face these fears and uncertainties together.
I’ve learned fearless doesn’t necessarily mean “not afraid.” It may just mean being a little better at being intentional, present, positive, and above all, loving, so there isn’t much room left for fear. I think I would be happy if, when something happens to me, people said they didn’t know anything was wrong.
Hope for a cure
Candidly, I haven’t shared my diagnosis freely because I don’t want VEDS to be my identity. I’d rather people see me first as a family man, a good friend, and a physician. But, frustratingly, for all those living, and dying, with VEDS, there is currently no real effective treatment and thus little hope. I’m hoping that sharing my story now can spur a call to action.
There is a small group of excellent clinicians and researchers in this field, but hope for a cure is really at the ground floor. In the meantime, we badly need energy, expertise, and resources towards the basics: research, registries, drug development, and especially drug trials.
These challenges are daunting and, of course, much depends on funding. The obvious reality is that properly resourcing these initiatives is a very expensive proposition, especially for such a small community of patients.
Thankfully, other rare diseases like Cystic Fibrosis have captured public attention. While few have heard of VEDS, we similarly need to make it a household word. We are already working on educating patients and their families, and we need to continue to engage physicians; early awareness of the emergent implications of VEDS is critical, along with better surveillance and lifestyle recommendations.
The next critical step is fostering greater public awareness and stimulating public and private support. My hope is that making you aware of VEDS today moves the effort forward.
What really fuels us is hope. Clinicians, researchers, and advocates are indeed beginning to bring the resources they have together, giving us some hope. And hope, measured simply for us by another year of life, provides a reason to fight. Clearly, we can’t do it alone; we have made a start, but have a long road to travel. We need people to fearlessly travel that road with us.
Dr. Anthony Yasick is a married father of three. He is a partner and the clinical chair of Macatawa Anesthesia PC, Holland Hospital in Holland, Michigan; chair of the DEFY Foundation; and serves on the board of the Marfan Foundation, a related condition which recently established a VEDS division for research and patient support.