Primary Children’s Hospital launches center with ‘cutting-edge’ genetic technologies

Janell and Elliot Lewis and their daughter, Evie, attend the launch of the new Center for Personalized Medicine at Primary Children’s Hospital in Salt Lake City on Monday, Nov. 25, 2019. Evie was born with spinal muscular atrophy, a genetic disorder that took the life of her older sister Blakely. According to Intermountain Healthcare officials, the new center will offer genetic technologies and targeted new treatments to help children with serious medical conditions “survive and thrive.” | Scott G Winterton, Deseret News

SALT LAKE CITY — When the Lewises welcomed their first daughter, Blakely, in 2011, she “by all accounts was a perfectly healthy baby,” Elliot Lewis recalled.

But within the first two months, she struggled to meet her developmental milestones like lifting her head during “tummy time” and wasn’t putting on enough weight. Her pediatrician assured the parents “babies develop at their own pace, and not to worry about it,” Lewis said. “But we were still concerned.”

The couple went to the University of Utah neurosciences building for other opinions, where doctors within minutes informed them Blakely had spinal muscular atrophy — a genetic disorder that causes “weakness and wasting” of the muscles used for movement, according to the U.S. National Library of Medicine.

“We literally had no idea. We had never heard of it before, we had no idea what that was. And I remember asking (the doctor) if that was some kind of a disability or something,” Lewis remembered.

Over the next few hours, the couple learned how to care for their terminally ill baby.

“And it was reiterated to us that these were palliative care measures, and that there was no hope for her, and that we should take her home and love her, and enjoy the time that we had.”

Blakely “earned her angel wings and went to heaven” in Primary Children’s Hospital at 21 months old.

Several years later, the Lewises again conceived a girl. Through genetic testing they knew that, like her sister, she would be born with spinal muscular atrophy.

But hope came in the form of a newly approved genetic treatment, the first of its kind for the condition. When Evie was born, she received her first injection of the treatment at 12 days old. Now, she’s received 11 of those treatments, her dad said.

The Lewis’ story — told during a news conference Monday at the hospital — is one example of how Intermountain Primary Children’s Hospital wants to improve care for children across the Intermountain West, and ultimately the world. The new Primary Children’s Center for Personalized Medicine will offer genetic technologies and targeted new treatments to help children with serious medical conditions “survive and thrive,” according to Intermountain Healthcare officials.

“Today, Evie is seven months older than Blakley ever lived to, and her strength and imagination and curiosity just amazes us. She requires no respiratory support, you can see she plays with our dog, she can climb kid toy towers and all kinds of things, and her future just literally couldn’t be brighter. So every day of Evie’s life is a medical miracle,” Lewis said.

The new center, a collaboration between Primary Children’s Hospital, University of Utah Health and Intermountain Precision Genomics, will provide precision diagnosis, gene therapy and novel therapeutics, and stem cell regenerative and immunologic medicine, said Dr. Josh Bonkowsky, the center’s medical director.

Rapid whole-genome sequencing is helping doctors quickly find treatments for critically ill infants in the hospital, he said. Until a few years ago, genetic testing took months and cost thousands of dollars “to get a single answer for a single gene,” according to Bonkowsky. But rapid whole-genome sequencing has allowed doctors to test 20,000 genes at a time and receive results in a week or less.

“This means for a critically ill infant that we can find the disease and then think, ‘What’s the cure?’” he explained.

The hospital has been using rapid whole-genome sequencing since August, Bonkowsky said.

With gene therapy, doctors replace missing or broken genes with “a working version” of that gene. Bonkowsky said Primary Children’s is one of the few hospitals in the U.S. treating children who have life-threatening conditions with gene therapy.

“Decades of research in Utah has led us to this moment. We have access to an unparalleled wealth of clinical, familial and genetic data at the University of Utah Health and Intermountain Healthcare. We have world-renowned experts. We have experienced innovators. This unrivaled combination gives the center the unique advantage,” said Dustin Lipson, administrator for Intermountain Primary Children’s Hospital.

“We are poised to forge new connections between genetics and human disease, and to apply those discoveries not only to benefit the children of Utah, our children, but children worldwide.”

Startup funding for the center came from the Intermountain Foundation at Primary Children’s Hospital. The center will be the first of its kind in the Intermountain West, according to hospital officials.

from Deseret News https://ift.tt/2Y1vxoX