Living with HHT

If HHT is diagnosed early, monitored closely, and treated appropriately, there's no reason why someone suffering from this disease can't live a long and happy life. But that's easier said than done, and for some, living with HHT can be a huge challenge and a constant struggle.

How to Live with Hereditary Hemorrhagic Telangiectasia (HHT)

In 2020, The Irish Independent newspaper published the story of Katie Woods, a young HHT sufferer whose life is a testament to the difficulties that arise from living with HHT.

Katie grew up around HHT. Her great grandmother, grandfather, uncles, aunties, mother, and brother all had the condition. Her mother suffered so badly that she needed blood transfusions while pregnant with Katie and her brother, Paul.

Katie experienced frequent nosebleeds from a very early age and had to visit a specialist over 3.5 hours away from her hometown. The nosebleeds came at home, at school, and when she was with her friends, and they were such a common occurrence that all her friends and teachers got used to them.

Katie’s nosebleeds became less and less frequent with age, but her brother continued to suffer. As Katie went on to live a relatively normal life with the condition, her brother underwent a number of procedures to remove vascular malformations and fix the issues they caused (including breathlessness and exercise intolerance).

If Paul's blood vessels weren't treated quickly, they could rupture and cause serious medical complications, but as they were dealt with promptly, they didn't affect him as much as they could have done.

By the time the siblings reached adulthood, Katie's nosebleeds had all but vanished, but Paul's problems had intensified. While on vacation, a blood vessel burst in his lungs and he was rushed to hospital. He died shortly thereafter.

Paul was just 22 at the time of his death.

Thankfully, Katie Woods is alive and well, but she's still dealing with the effects of HHT, the illness that killed her brother.

Katie's story is a perfect example of how living with HHT can be vastly different from one person to the next. In some, it's little more than a nuisance, one of inconvenient nosebleeds and little else. In others, it's a life-threatening illness that can serious medical complications following an unexpected rupture.

Managing Your Hereditary Hemorrhagic Telangiectasia (HHT)

Personal stories like the above may be alarming to individuals with HHT, but the risk of early death is actually very low in HHT.

To keep those risks as low as possible, you should:

  • Diagnose Early: Get a diagnosis as early as possible. If family members have the disease, request genetic testing to see if you have it as well.
  • Find a Specialist: Katie and her brother traveled over 3.5 hours from their hometown to find an HHT specialist. It's a long way to go, but it's worth the effort as they know what to look for. Many health care professionals are ill-informed about the signs, symptoms, and complications of HHT and so they may not provide the level of care that you need.
  • Stay Informed: Patients should learn as much about HHT as they can. There are support groups, websites, communities, and other resources to help. If you have family members with the disease, they can also be a valuable resource.
  • Monitor Symptoms: Keep a record of all your symptoms, including shortness of breath, recurrent nosebleeds, and back pain.
  • Regular Checks: Book regular checkups with your physician to screen for AVMs. The sooner these are treated, the lower the risk of serious medical complications.

If you or a family member is suffering from HHT, you should also check out Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia by Sara Palmer. The book was published by Johns Hopkins University Press and is a fantastic resource on this rare genetic disorder.

Living with HHT is available to buy from Amazon.