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RIVERTON — Jack and Chelsea McBride stand in the kitchen cooing at their infant son, Finnian, trying to get him to take his pacifier. There's nothing like a new baby.
Though Finnian looks perfect, with a full head of hair, he has some complications.
"I think I just steeled myself to be prepared for that," Jack McBride said
Finnian has hereditary hemorrhagic telangiectasia (HHT), a genetic disorder of the blood vessels. So does his mother, Chelsea.
"I could tap my nose like that, and (it would be) just gushing blood," Chelsea said, lightly touching her nose for a second.
She and her brother had frequent, heavy nosebleeds as kids and didn't know why. Then at age 16, her brain hemorrhaged.
"I've never felt a worse headache in my life," she said.
The episode was initially misdiagnosed as meningitis, but doctors formally diagnosed her with HHT four years later.
Two months ago, in the middle of the night, Chelsea had a seizure.
"Her eyes rolled back in her head. She couldn't breathe, so she was struggling really hard to breathe, and she started to turn blue," Jack said.
The seizure put Chelsea into labor. Doctors tested Finnian for HHT right after he was born.
"Everyone thinks he's a miracle," his mother said.
But doctors often misdiagnose the symptoms. The first step is getting tested. Samples come to the ARUP Laboratories from all over the world. Scientists isolate the DNA and look for genetic markers.
"HHT is a devastating disorder if you do not know you have the disease," said Dr. Pinar Bayrak-Toydemir, associate professor of pathology at the University of Utah and ARUP medical director.
She and Whitney Wooderchak-Donahue, an ARUP HHT researcher, discovered a fourth gene associated with HHT which has led to advances.
"It's a clinical diagnostic test we can use to say the patient has HHT at the molecular level or not," Wooderchak-Donahue said.
The scientists work closely with Jamie McDonald, ARUP genetic counselor and assistant professor in the U.'s Department of Pathology, who helped create the HHT Center for Excellence.
McDonald also counsels Chelsea.
In the cardiovascular clinic at University Hospital, McDonald pulls up scans of Chelsea's brain. She has added insight for her patient because, too, has the disorder.
"When I'm at work, I eat, sleep and breathe the disorder," McDonald said.
It's a team approach to research and treatment. McDonald explained that the most deadly aspect of the disorder is AVMs, deadly arteriovenous malformations that form in the brain, lungs and liver. They are blood vessels missing capillaries, causing shunting and hemorrhage.
Aside from work and personal care, McDonald has another reason her passion is treating this disease. Twenty years ago, her 18-month-old daughter, Kelsey, had a large brain AVM. During a procedure to fix it, Kelsey passed away.
"Of course I still think about her. She's still a part of our family," McDonald said. "My now 26- and 27-year-old kids have a picture of her in their room."
Researching HHT became her life's work, helping patients like Chelsea, who just did something she never thought she'd be able to do: climb a mountain.
Statistics show if a person's mother, father or sibling has HHT, he or she has a 50 percent chance of also having it. In 85 percent of families, HHT is linked to a genetic mutation. In the other 15 percent, scientists don't yet know what causes it, according to Wooderchak-Donahue.
Researchers also say 90 percent of the people with the disorder don't know they have it.
