What the HHT?
A blog for the HHT community
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 More
Curing for Generations is more than a campaign slogan, it is our commitment to the thousands of families affected by HHT and a promise to never give up!
For many, HHT has taken far too much – families whose photo albums include faces of loved ones lost, whose lives were cut short because of this disease – as well as pictures of those who don’t yet know the journey that lies ahead. But in those albums, there is also hope — like the sweet face of baby Rachel Erickson, whose life was saved by the quick intervention of Cure HHT and the skilled expertise of an HHT physician.Read More
Establishing new Centers of Excellence is essential to providing life-saving, expert HHT care to patients across the globe – including our littlest of patients like Jahier, Liam and Willie.
One of the many ways your donations will be put to use this Giving Tuesday is by helping to expand our pediatric reach – to certify more HHT Centers of Excellence with pediatric specialists – and grow the number of physicians educated about HHT. This is especially important for pediatric patients, where HHT can be more difficult to diagnose as symptoms do not often manifest until later in life. Early screening and expert treatment is vital to preventing complications and avoiding unneeded suffering and loss.Read More
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