When Harper Ryals turned 2, she hit a growth spurt. But her mom, Rebecca Newman, noticed something unusual with her daughter’s growth — Harper’s fingertips had turned blue.
“She got really big really fast,” Newman, 26, of Long Beach, Mississippi, tells TODAY.com. “Once she hit that growth spurt, we started noticing subtle changes in her, such as she was having trouble breathing.”
After a doctor’s appointment led an emergency room visit, testing found numerous arteriovenous malformations (AVM) in Harper’s lungs. An AVM is a jumble of incorrectly connected blood vessels that are weak and can easily rupture and bleed. Having just one is considered dangerous.
Eventually, doctors diagnosed Harper, now 5, with a rare disease called hereditary hemorrhagic telangiectasia (HHT), which causes AVMs, according to the U.S. Centers for Disease Control and Prevention.
Newman and Harper’s father, David Ryals, soon learned that she had a genetic mutation that made her HHT unique. Her family felt stunned.
“This is already a rare disease but … she has a very rare genetic mutation that has never been seen before,” Newman says. “It is something that actually happens by a crazy astronomical chance in the conception process.”
‘Struggling to breath’
When Harper was born, she appeared to be completely healthy. It wasn’t until she was 2 that her parents noticed anything wrong with her. After her fingers turned blue, she underwent a battery of tests that revealed that Harper had thousands of tiny AVMs in her lungs. This impacted her ability to receive properly oxygenated blood, and her lower blood oxygen levels caused a blue tint to her skin.
“She was struggling to breathe,” Newman says. “She was struggling with her strength.”
Doctors soon placed Harper on…
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