What the HHT?
A blog for the HHT community
Gabby Choi: There is so much power in patients advocating for themselves…
As a kid, Gabby Choi remembers spending hours in the bathroom with her mother, who also had HHT, as she dealt with her hemorrhagic nosebleeds that seemingly kept getting worse and worse.
It had a significant impact on her mom’s quality of life – with the frequent bleeds interfering with work or preventing her from wanting to socialize in fear of a bad bleed striking.
Sadly in 2017, Gabby’s mother Julia was diagnosed with pancreatic cancer. Because of her progressed HHT, she didn’t qualify for any of the clinical trials that could have given her a better chance at fighting the cancer.
Gabby’s own HHT symptoms remained relatively mild during her childhood. She’d go on to swim collegiately at Emory University and receive her MBA from Harvard Business School, but the experiences with her mother motivated her to get more involved with the HHT community and help in any way she could.
Read MoreThey told John he only had a month left to live…he knew he had to keep fighting
John Bannon was told he had about a month left to live. For over a decade, John searched for relief to try to manage his increasingly severe nosebleeds. Bleeds so bad that he became known as “the nosebleed guy” to the local ambulance team – and so severe he was reliant on 2 to 4 units of blood every other week. In a matter of months, John went from 220 pounds down to 165. His organs were beginning to fail.
John had tried everything, it felt like. He had multiple cauterizations at Yale and UPenn, made a trip to San Diego to try Avastin, had his nose embolized at Columbia; none of it was effective in getting the bleeds under control. “It felt like there was no hope, but I wasn’t going to give up,” John said. “I knew I had to keep fighting. Between my wife and I, we have 11 children and 17 grandchildren. Five of my kids have HHT, and some of my grandkids do as well. I was determined to find something before I left this planet that would help them not struggle like I had.”
Read MoreHHT 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 MoreCreating hope on Giving Tuesday for our littlest of patients
As a little boy, Liam seemed to feel sick very frequently – far more than his two older brothers. He’d have a harder time recovering from illness, being sluggish, tired and missing many days from school. Mary, Liam’s mother’s concern started to grow as the pediatrician visits got more and more frequent. For years, she was told the same things – it’s probably allergies, or just a viral infection. But those answers weren’t good enough for Mary. She took him to gastroenterologists, immunologists, requested blood work and more, searching for answers. It would take nearly a decade to finally get an answer, when Liam was 14.
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