By Sabrina Vera
My name is Sabrina Marie Vera, I’m a proud first-generation graduate of Pomona College, Puerto Rican woman, and survivor of Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic and deadly blood disease. My family and I suffer from HHT, which took the life of my older brother Robert 15 years ago. HHT causes malformed blood vessels throughout the body that cause sudden and extreme bleeding, both internally and externally, and can lead to brain hemorrhage, strokes, and heart failure. One of the first signs of HHT is nosebleeds. Even though some patients report never suffering from nosebleeds, I bleed from my nose at least twice a day and have been hospitalized in the past due to extreme blood loss. One in every 5,000 people has HHT, which is about 1.4 million people worldwide or 0.025% of the world’s population. My grandmother, mother, all of her siblings, my brother, cousins and I are all members of that 0.025% suffering from HHT, which never skips a generation. My family also suffers from HHT type one, the worst genetic mutation form of HHT.
At least 40% of people with HHT have pulmonary arteriovenous malformations (AVMs), which must be coiled to keep them from growing and erupting. Earlier this year, I was on a plane home from Puerto Rico, and while the plane was landing and the pressure was changing, I felt a very sharp pain in my lungs. Days passed and I felt like I couldn’t breathe, my heart was racing, and my chest plate was swollen and sore. I went to the doctor thinking it was anxiety or, even worse, possible breast cancer, but he immediately sent me to get my lungs scanned. Deep down, I had a feeling it was my AVMs, but I was a bit in denial out of fear of surgery. That same night my doctor called me and told me I needed lung surgery immediately. I was about three days away from flying back to Pomona to start my final semester of college, so I hesitated. “Sabrina, if we wait on doing this surgery, you won’t be walking across the stage this Spring.” I was told I had an AVM with a feeding artery and three AVMs that were approaching 10 mm. For reference, AVMs are flagged for surgery at about 3 mm. At that moment, I couldn’t help but cry. I wanted to put my education before my health and my life, which is something I think a lot of students with disabilities, especially first-gen, low-income students of color, tend to do. Two days later I headed into surgery. The procedure calls for patients to be partially awake to breathe in when they coil the AVMs. I felt them moving around inside the depths of my chest, it’s a feeling I will never forget. Once I came through, I immediately cried, vomited, and bled from my nose while my sister held me. It was really overwhelming; I felt absolutely terrible. But, the surgery was successful, and for that, I am eternally grateful.
My brother Robert passed away from a ruptured cerebral AVM. I remember how his brain scan lit up like a Christmas tree, each dot representing an AVM scattered throughout sensitive parts of his developing brain, from his memory to his motor skills. A surgery for him was extremely risky at the time due to a lack of research and resources. My cousin Pricilla who also has AVMs in her brain underwent the surgery and came out of it confined to a wheelchair and partially blind. So, of course, my brother, a teenage boy who wanted to live life to the fullest, was hesitant. Unfortunately, Robert spent the last months of his life in immense pain, from brutal headaches to gut-wrenching seizures every day, until June 9th, 2005, when he passed away.
Three years after Robert died, doctors found AVMs in my brain and liver. I remember the silence in the room when the doctor told my mother about my brain, followed by her crying at the possibility of reliving the same nightmare with me. However, I have been extremely blessed. My cerebral AVMs, unlike my brother’s, are growing at a rate that I can monitor. When I scanned my lungs this year, I also scanned my brain. Two of my AVMs are still small, and one is about 6 mm. As most people with rare diseases can attest, my doctor was unsure what to do because “it’s just not that common,” which is true. Cerebral AVMs affect less than 1% of the world’s population. Doctors are unsure if it’s worth coiling my larger cerebral AVM because of its location. “I worry about that AVM because it’s growing in your frontal lobe, right around the area that is most responsible for controlling your personality.” I couldn’t help but let out a cynical giggle. The very core of my personality - being a survivor and advocate for HHT - is now being threatened by HHT. Life is full of many moments of comical irony, the type of irony that makes every deep breath a bit sweeter.
I have been feeling so much better since my surgery, and I am keeping close tabs on my brain. Sure, I bleed from my nose every day and have had moments when I’m eating and bam! - blood in my soup! Or on my favorite shirt. Or even sometimes on my homework. Every red drop of blood and bloodstain is simply another potent reminder of HHT, the hidden killer that makes appearances that are oftentimes subtle. Maybe in the form of Telangiectasia (small red spots) on your tongue. But sometimes, HHT is not subtle at all. HHT is more than nosebleeds; it’s a brain scan that leaves your mother in somber shock, it’s the news from the ER that your seventeen-year-old son didn’t make it, it’s the sobering reality that you may not be able to have kids. Sometimes, it’s nothing at all: 90% of people with HHT are undiagnosed. I’ve learned that’s sort of the calling card of rare diseases: we don’t know what to expect, there’s simply not enough information and oftentimes patients are left in the dark. It usually takes something tragic to catalyze concrete change for patients. After my brother’s death, there were HHT conferences held in his name, an abundance of research was conducted, they improved the surgical procedures for coiling all organs, and June was named the national HHT Awareness month. We’ve come a long way as a community of blood sisters and brothers united by common occurrences like going through a box of tissues in five days. But, as they say in the community of people with a rare disease: alone we are rare, but together, we are strong.