From his earliest memories, Donald remembers nosebleeds. They were simply part of life. His mother had them. Some of his siblings had them. Nobody thought much of it. A little tissue, a few minutes of inconvenience, and the day carried on.

For years that was the story hereditary hemorrhagic telangiectasia (HHT) told in his family. Something familiar. Something manageable. Something ordinary.

The x-ray that changed the story

Donald was at university when a routine chest x-ray revealed a large arteriovenous malformation in his lung. A physician reviewed his history of nosebleeds, noticed telangiectases on his lips, and told him he had Osler-Weber-Rendu syndrome, now more commonly called HHT. Several months later he had the lung malformation embolized.

At the time, no one gave him clear recommendations for ongoing care, broader screening, or testing the rest of his family.

Two years later his younger sister Marie, who also had nosebleeds, had a cerebral hemorrhage from a malformation in her brain. She survived emergency surgery and later died from a second bleed. She was 26.

For Donald, HHT is not abstract. It is a family inheritance, a family grief, and the knowledge that symptoms dismissed as routine had been pointing at something else the whole time.

What expert care looks like when you can reach it

Donald later had genetic testing to confirm the diagnosis and was referred to the HHT clinic at St. Michael’s Hospital in Toronto, at the time the only one in Canada. There he began receiving the screening, treatment, and follow-up that every person with HHT should have. His close relatives were screened as well.

Access has never been simple. Specialized HHT care means a two-hour flight from his family’s home. That is the ordinary reality of a rare disease: the right care exists, and it is too far away, too hard to find, or discovered only after something irreversible has happened.

Today his anemia is treated, he feels well, and he stays active. He also understands that HHT changes over time, and that symptoms and complications can appear at different stages of life. The concerns are not only physical.