- Kate James suffered from nosebleeds her entire life, but she did not think too much of them.
- It was not until one of her children threw up blood that she finally got an HHT diagnosis.
- Kate and two of her daughters have this rare disease.
Kate James, a 39-year-old mother of three in the UK, suffered from daily nosebleeds throughout most of her life until she was given a diagnosis she never expected. After 30 years of nosebleeds, James was diagnosed in 2018 with hereditary hemorrhagic telangiectasia, a disorder in which some blood vessels form without capillaries, usually present between arteries and veins, and cause bleeding. Nosebleeds are the most common side effect.
“My parents noticed the nosebleeds when I was about 5,” James said. If she exerted herself climbing stairs or ran around during gym class, James wound up sitting in the school’s medical room with cotton wool stuck in her nose to stop the bleeding.
It was not until one of her children started throwing up blood that James decided to dig into why she and two of her children had recurrent nosebleeds. Now, she’s on a mission to raise awareness of HHT, which is estimated to occur in 1 in 5,000 people.
It runs in her family
James’ dad always had nosebleeds, so she thought it was just an annoyance she had inherited.
“When I got married to my first husband in 2004, all I was concerned about was not bleeding on my wedding dress,” James said. “It was so sporadic and sudden that I could not control it.”
Fast-forward to 2018, when James had three children, two of whom had frequent nosebleeds, and a new partner. James’ daughter, who was 6 at the time, started complaining about headaches. James attempted to find the source of the problem. She made sure her daughter drank enough liquids and got her eyes checked, but James could not figure out what was causing the nosebleeds.
“Then one day, she threw up blood clots like I have never seen,” James said.
James rushed her daughter to the hospital, where she stayed while doctors tried to figure out what was wrong. Calum Semple, a consultant in pediatric respiratory medicine at Alder Hey Children’s Hospital, visited the family and knew immediately that they had HHT when he noticed red spots on James’ hands – a symptom of abnormal blood vessels in the skin.
After decades of nosebleeds, James finally had a diagnosis. “I remember being shell-shocked,” James said. “It felt like jigsaw pieces that fit into place.”
What is HHT?
“The most common problem of people with HHT is frequent, heavy nosebleeds,” Semple said. “Later in life, people diagnosed with HHT are much more likely to suffer strokes, brain infections,
and bleeding problems. “
James’ daughter had suffered from a cluster of veins that had not formed correctly in her lung, which caused a massive bleed. The headaches resulted from not having enough oxygen flowing. “She would likely have collapsed at some point because she hadn’t been getting enough oxygen,” James said.
James, her older brother, her father, and two of her three children were all subsequently diagnosed with HHT.
Even with a diagnosis, James’ nosebleeds have not stopped.
On Christmas Eve 2018, just after her daughter’s hospital visit, James experienced one of those worst nosebleeds she’d ever had.
“The children were with their dad, and I was at my boyfriend’s house,” she said. “I’d gone to wash my hands, and all of a sudden, a rush of blood started, and I could not stop it.” Her boyfriend sat on the bathroom floor with her for almost an hour until the blood stopped.
“The disease is poorly understood because it is so rare,” Semple said. “We do have surgical techniques for clipping, blocking, and cutting out large abnormal blood vessels when found and are causing or likely to cause problems in the future. But more research is definitely needed. Most doctors will have heard the name of the disease mentioned only once in medical school in an early lecture about blood-vessel development. ”
As James imagined her future with HHT, she did not worry much about her own condition, she said, but about that of her daughters who also have the disorder.
Unlike James, her daughters would have access to genetic selection so that they would not pass the gene to their own children, which James said was a huge relief.