Anthony Anzell, PhD, is a postdoctoral fellow at the University of Pittsburgh studying hereditary hemorrhagic telangiectasia (HHT). He also happens to be an HHT patient. Here, Dr. Anzell shares his HHT journey, from diagnosis, to ultramarathons, to the lab.
When and how were you diagnosed with HHT?
I was diagnosed in 2005 when I was 15 years old. I had severe migraines for two weeks, and after multiple doctors, ER visits, and misdiagnoses, my mother fabricated the symptoms to convince the doctors to give me a CT scan.
The CT scan revealed that a quarter of my brain was covered in abscess. After three brain surgeries and a liver surgery (as the abscess had spread to my liver), doctors found two pulmonary arteriovenous malformations (PAVMs) that were creating the abscess. This led them to the diagnosis of HHT. A couple years later, I had genetic testing and was confirmed with a mutation in the endoglin gene.
What has been your experience as a person living with HHT?
Physically, I have been able to manage the daily nosebleeds and occasional gastrointestinal bleeding. The most difficult problem I face is that no one seems to know about the disease. And this doesn't just apply to the general public, but the medical community as well. There have been numerous occasions when I see a new doctor and the first question I get is, "What is HHT?"
For something that is just as common as cystic fibrosis and muscular dystrophy, it is incredibly frustrating to get people to care about HHT when there is such low awareness for it. I believe that with awareness comes care, and with care comes good healthcare.
How did you get involved in research?
After suffering from HHT complications and learning I had the disease, I decided to dedicate my life to HHT in any way I could.
At first, I ran awareness campaigns through ultra-endurance events like biking 188 miles across the state of Michigan; running a 50-mile ultramarathon through Hell, MI; swimming 19 miles across Torch Lake in northern MI; and just this past August, completing an ultra-Ironman (3-mile swim, 126-mile bike, and 32-mile run).
After running the ultra-marathon, I felt like I wanted to do something more for the community. So, I decided to pursue a PhD in order to become an HHT scientist. I obtained my PhD at Wayne State University in May 2020 and am thrilled to be doing HHT research at the University of Pittsburgh under Dr. Beth Roman as a postdoc. It has truly been a dream come true for me.
How has research made an impact in your life?
Research has made a considerable impact in my life, both through my physical health and my career. Without the resources to fund the dedicated people who do the work, there would be no chance of easing the pain and suffering patients, including myself, go through on a daily basis.
Discovering new viable therapies, and eventually cures, means a great deal to HHT patients and their families. Because with HHT, it's not just the patient that deals with the disease, but all the family members that inherit the disease as well. I know families who have had multiple generations of family members that suffered from HHT. Curing the disease doesn't just cure it for patients that have it, but for their children and their children’s' children. Curing HHT is curing a multi-generational disease.
The Brain Vascular Malformation Consortium (BVMC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). BVMC is funded under grant number U54NS065705 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).