EYEWITNESS NEWS (WBRE/WYOU-TV) — It’s a heartbreak for parents of children who suffer from rare diseases with limited treatments. Rare diseases are responsible for 35 percent of deaths in the first year of life.
But thanks to advances in what’s called genomic research, more children and their families have hope, including one special little girl. When Clara Jensen was born in 2017, her parents made a startling discovery.
“We didn’t know before she was born. It didn’t show up on any ultrasounds, so it was quite a shock,” said Jennifer Jensen, Clara’s mother.
That shock the result of a tumor on the tongue of Jennifer and Aaron Jensen’s newborn daughter
“I mean it was large enough that she couldn’t close her mouth around the tumor. She couldn’t even swallow,” Jensen said.
The diagnosis was cancer.
“They found out it was malignant right away but the specific cancer that it was, was so rare that it took about a month to come up with it, the specific diagnosis for it,” said Jensen.
The one-in-a-million diagnosis of myofibrils sarcoma was made at Children’s Mercy Hospital in Kansas City, Missouri.
“Because we were able to offer genetic diagnosis, we uncovered the mutated gene that was the driver of the cancer and fortunately there was a drug already available for that mutated gene,” said Dr. Thomas Curran, Chief Scientific Officer and Lead Researcher, CMRI.
That meant no need for extensive surgery, just a debulking procedure, and no need for experimental treatment.
“The drug just made the cancer melt away and didn’t damage any of the surrounding tissues,” Dr. Curran said.
Success stories like Clara’s inspired Children’s Mercy Research Institute to begin building a first-of-its-kind pediatric data repository. It will collect genomic data and health information from 30,000 children with rare or complex diseases and create a database of nearly 100,000 genomes.
That information will be available for doctors everywhere including in Northeastern and Central Pennsylvania. The hope is for new diagnoses and accelerated treatments and cures.
This brings hope for kids like Clara, now a healthy 3-year-old.
“Never give up hope. There’s always hope,” Jensen said.
Clara’s parents say she has no side effects from the surgery and treatment for her rare tongue cancer.
More information on the Genomics research at Children’s Mercy Research Institute can be found on its website.