Since birth my husband Josh has known he has HHT. His mother and her five siblings all inherited it from their father (how wild are those odds!). When his mom saw a telangiectasia on his foot, she knew he had inherited it too. At this point the family believed HHT was just a “nose bleeding disease.” They had never had any preventative scans done.
Fast forward almost 40 years – Halloween weekend of 2021, our 12 year old daughter, Madalinn, was diagnosed with Pulmonary Arterial Hypertension after finding out she was in severe heart failure. After a week of testing and a genetic confirmation, we found out her Pulmonary Hypertension was caused by her HHT (ACVRL1 – HHT type 2). HHT caused a malformation of the arteries that deliver blood from her heart to her lungs. Only 1% of people with ACVRL1 have PAH. Again, what crazy odds!
Looking back we could see signs of Pulmonary Hypertension from the time she was about 6. The main indication was that she didn’t like to run because she didn’t like the way it made her feel. We never really thought much about that until her symptoms started becoming worse. Her endurance for daily tasks started to decrease pretty dramatically after hitting puberty. By the time we found her PH, her heart was so sick that according to her doctor it would have stopped working within two months.
Her diagnosis led us to get her two younger brothers genetically tested. They both came back positive for ACVRL1. Upon this news, Josh decided it was important to begin to lead his family in being proactive and getting the recommended scans done. We made appointments at the HHT Center of Excellence at Cincinnati Children’s Hospital for Josh and both boys.
Just 6 months after our daughter’s diagnosis, they all had their scans. Both boys’ scans were clear! However, Josh’s MRI showed a clementine sized AVM in the left frontal lobe of his brain. He had no symptoms or headaches that would have given us any indicators that it was there. All of the sudden we were informed that this AVM, which felt to us like a bomb, had probably been growing since he was born.
We sought out a vascular neurosurgeon to help remediate the AVM and reduce the risk of him having a stroke. The surgeon had a three step plan – two outpatient angiograms with embolization, then reassess and then a possible craniotomy.
July 14, 2022, Josh went in for his first procedure. The surgeon was able to embolize about 30% of the AVM and was very pleased. However, in the recovery room a weak spot in the AVM ruptured and Josh had a massive brain hemorrhage. He was in the neuro ICU for 4 weeks in a coma. After he became stable and began to slowly wake up, he spent 6 weeks in step-down and long term acute care hospital. That was followed by 9 weeks in an inpatient physical rehab hospital. Finally after that 19 week hospitalization and rehabilitation, he returned home and has been continuing to heal and regain function. We still have a long road ahead.
Even if the odds are low for certain complications, our family is now a big proponent for early screening. The odds of HHT causing Pulmonary Hypertension are extremely low, but it affects our family. The odds of a brain AVM with the ACVRL1 gene is pretty low, but it affects us too. No longer is HHT just a bloody nose disease to us. It has rocked our world on a daily basis. We are thankful that both Madalinn and Josh are still alive and with us, but for both of them it was almost too late.
Today, Madalinn is in a stable place and being proactively managed. Josh’s recovery continues, and a long road lies ahead but he is getting memory back. If you’ve been on the fence about getting the scans, please learn from us and make the appointment! Early detection is so important.