For much of Kelsey’s life, hereditary hemorrhagic telangiectasia (HHT) was there before it had a name. It was in the kitchen, where her father stood over the sink with severe nosebleeds. It was in a family medical history nobody had yet assembled. It was quiet, familiar, and shaping everything.

She was diagnosed at 11. “Thank goodness the pieces were put together,” she says. The diagnosis did not make HHT easier. It gave her family a way to understand what had been happening, and what could happen next.

Not the version of HHT people expect

Kelsey’s nosebleeds were relatively mild. HHT is not only nosebleeds. It is a multi-system genetic condition that can affect blood vessels in the lungs, brain, liver, and gastrointestinal tract.

Her HHT contributed to pulmonary arterial hypertension, a serious condition involving high blood pressure in the arteries between the heart and lungs. She also developed microscopic gastrointestinal bleeding, which worsened as the pulmonary hypertension worsened. Anemia became one of her most serious complications, not from nosebleeds but from bleeding nobody could see. The two conditions fed each other. Eventually she needed a double lung transplant.

That is what invisibility costs. HHT gets minimized because its most recognizable symptom looks ordinary from the outside. For many people the dangerous complications are not visible at all until they have already done harm.

She hears it from both sides

Kelsey knows this personally and encounters it professionally, in her work with people who have HHT. She hears it from patients whose symptoms were minimized and whose complications compounded while they waited.

It’s in the worried tears and shaky voices of patients talking to me on the phone asking for help. It’s truly heartbreaking. It doesn’t impact just the affected person; it affects a whole circle.

Kelsey

That circle includes parents, children, siblings, partners, caregivers, and clinicians: everyone who has sat beside someone they love waiting for answers that should have arrived years earlier.