HHT has been a part of my entire life. I watched my mother try to staunch nosebleeds for a long as I can remember. In all cases, she did it privately over the bathroom sink and without complaint. She was born a 2 pound-premature baby and as such had a variety of maladies (including a terrible back, which was passed on to my brother and me along with the HHT).
In her 50’s she developed debilitating congestive heart failure and an enlarged heart, but the nosebleeds went undiagnosed. In the late 1970’s she was in NYU hospital for an acute problem with CHF. The doctors were trying to tie this to her nosebleeds via an incredible number of tests, some extremely painful (I can still hear my mom screaming and crying as she was having bone marrow tests).
One day, a doctor asked to look at my mom’s hand and immediately pointed to her pointer finger. Here is the answer, he said, as he pointed to an AVM on her fingertip. She has HHT. The diagnosis was confirmed so at least she knew what she was dealing with. My brother and I were subsequently diagnosed based on noticeable AVM’s. Tragically she died at age 61.
Due to the knowledge gained from my mom’s diagnosis, my brother and I have been scanned. He lives in Maine so he uses Boston doctors. I have moved a bit and have used some fine medical professionals in Pittsburgh and New Jersey, who have managed my care, but had little impact on my increasingly frequent and severe nosebleeds. My luck has changed since retiring to South Carolina. I am now a patient at the HHT Center of Excellence at the University of North Carolina under the care of Dr. Raj Kasturi. Genetic testing has located the exact locus of my HHT allele mutation, information that will help my children find out if they have HHT. Most importantly, my son will be tested prior to the birth of his daughter this year and know whether she may inherit the allele.
Dr. Kasturi has also prescribed, Tranxemic Acid, the first medication that has dramatically diminished the frequency and severity of my nosebleeds. This has markedly improved my lifestyle. Nosebleeds, when they occur, last only a minute or two and involve very little bleeding. My brother will look into the possibility of using this medication.
My story, which I believe is hopeful, illustrates the slow but real progress that has occurred in the diagnosis and treatment of HHT over the course of almost 100 years.