September 28, 2022

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New technology helps doctors fight rare diseases faster

3 min read

GRAND RAPIDS, Mich. (WOOD) — For parents of children sick with rare diseases, not having a diagnosis can be one of the hardest parts. In the past, the search for a diagnosis could takes months and sometimes even years.

Now at Helen DeVos Children’s Hospital in Grand Rapids, doctors are often able to do it just a couple of days.

Feb. 28 is Rare Disease Day. There are millions of people all around the world who live with a rare disease.

Among them is Hazel. At 17 months old, she is the youngest of the three kids in the O’Brien family from Ludington.

“She is just full of spunk all the time,” her mom Jade O’Brien said.

Hazel and her two siblings are three peas in a pod. But Hazel’s birth and her first months were not like her brother and sister’s.

“She had some struggles. She continues with some struggles,” Jade O’Brien said.

She and her Logan O’Brien knew as soon as Hazel was born that something was different. She didn’t make a sound and her skin was a deep shade of purple.

Hazel in the hospital as a newborn. (Courtesy)

“The uncertainty of everything was just pretty overwhelming. Doctors didn’t know what was going on,” Jade O’Brien said.

“Your mind automatically goes to the darkest places, especially when you see something like that, your baby all hooked up to tubes and monitors,” Logan O’Brien said.

“The diagnostic Odyssey for patients that we see is sometimes decades,” said Dr. Caleb Bupp, a medical geneticist with Helen DeVos Children’s Hospital. “When you’re a parent who has a sick kid, particularly a really sick kid, and you can just understand and wrap your brain around why, that makes a world of difference for the decisions that you make.”

While cardiologists and rheumatologists treated Hazel’s symptoms, Bupp ran rapid whole genome sequencing using just a little bit of her blood.

“Looking through someone’s entire genetic code, so billions of nucleotides that spell out our genetic information, and we’re looking for the one. The one change that explains everything,” Bupp said. “The analogy I use is it’s like looking for a needle in a haystack but now we’re starting to do that with a metal detector.”

What used to take months took less than 3 days.

With a diagnosis of Noonan syndrome, which can cause heart defects and other problems, Hazel’s treatment could move forward with more precise care because doctors knew exactly what they were dealing with.

Bupp calls it a game changer.

“Now being at this transformational place with medicine where we can look at someone and say I think there might be something here let’s go look and maybe we’ll find something in hours, it’s still days, but it’s closer to hours now,” Bupp said.

Hazel’s doing well. Bupp says many more kids will be, too, thanks to the rapid whole genome sequencing leading to a lightning-fast diagnosis and putting them on a faster path to treatment.

“This is taking off and it’s going to go into the stratosphere,” Bupp said.

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