Mattawan girl battling rare genetic disorder is a ‘beam of sunshine’

Posted at 9:06 PM, Oct 01, 2018
and last updated 2018-10-01 21:10:34-04

MATTAWAN, Mich. — The moment Kelly Berthoud said that her three-year-old daughter Marlene was the happiest person she’d ever met, the little girl smiled.

“She is just this bright beam of sunshine all the time,” Kelly said while holding Marlene in her lap. “She does have bad days and sometimes bad nights. But for the most part if you meet her basic needs she’s going to be happy.”

Marlene’s needs include a lot of physical and occupational therapy these days, Kelly said. Marley, as everyone calls her, was born with neurological defects. It's something Kelly and her husband immediately noticed when Marley was born, including her head of hair.

“It was definitely this like silvery, blondish almost grayish looking hair,” Kelly said during an interview at her home. “It was kind of bizarre.”

Then, within a month, Marley's hair fell out while she was in NICU, Kelly said. They’d learned after several test that Marley suffered a brain hemorrhage while in the womb.

“I had a healthy pregnancy and that was all normal,” Kelly said. “But still I was internalizing a lot of grief on myself at the time.”

Despite the sadness, Kelly fought for answers she said. The family took Marley to see a geneticist at the Helen Devos Children’s Hospital in Grand Rapids. After undergoing a whole exome sequencing — a type of DNA testing that looks for abnormalities —  Marley’s test results showed, in December 2016, that her ODC1 gene was mutated, something that had only been seen in mice in a study conducted in the early 2000s.

“She is the first human to have this gene mutation identified,” Kelly said. “We’re starting to actually figure out at this point what this means for her. We know that there's some abnormalities in her cells in her body.”

Marley has also developmental, cognitive and physical delays, Kelly said. She's also non-verbal. Now, doctors are researching which of Marley's delays stem from her genetic mutation or the hemorrhage she suffered.

"At this point we have been proposed an option to have a medication which is pretty amazing because genetic mutations aren’t repairable," Kelly said. "They’re just there, and there’s nothing that you can do to treat them. So this is an option for us but it’s still very new and we’re just starting to explore that."

Marley's case, being the first of it's kind, has since been published in a medical journal. Doctors have taken more blood and urine samples to learn more about condition.  Marley has even seen a doctor at Michigan State University who’s specializes in ODC-1 gene mutation.

“There still more questions to be answered,” Kelly said. “But we’re starting to get a clearer picture of whats going on with her.”