What the HHT?
A blog for the HHT community
Community Stories
HHT rocked our world
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 HHT, 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 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 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!
Read MoreAccess to expert care at CHOP saved Jahier’s life
January 21, 2023 started off like a normal day for 13-year-old Jahier and his mom, Amber. The two had just gone out to eat and did a little shopping afterwards. When they arrived home, Jahier helped carry a few bags inside when suddenly he started to cry. “It wasn’t a normal cry,” Amber recalled. “He started saying he couldn’t feel his legs and said his head was hurting.”
Amber didn’t wait. She rushed him to the local emergency room, which was just a 5-minute drive down the road. By the time they arrived, Jahier couldn’t walk. The team of doctors called for a stroke alert and conducted a brain CT. The first scan looked normal, but Jahier’s condition continued to worsen. A second scan, this time with contrast, revealed a ruptured brain AVM — and the bleed appeared to be spreading.
Read More