The first time someone meets Marley Berthoud, they might not notice just how many miracles they’re seeing all at once.
Marley, 6, has come a long way since birth.
A new paper, published in eLife, outlines just what a big deal little Marley is.
While still in utero, Marley suffered a significant brain hemorrhage. It caused neurological deficits and symptoms that at first baffled her health care team.
Early in infancy, all her hair fell out. She suffered hearing loss.
Eventually, extensive genetic testing revealed a mutation in Marley’s ODC1 gene, which is involved in processing polyamine, compounds important to development and growth.
That discovery brought more mysteries. There were no known genetic conditions associated with it at that time.
Marley’s became the first case linking the mutation to developmental issues in a human. (It had, however, been documented in mice.)
Caleb Bupp, MD, a medical geneticist at Spectrum Health Helen DeVos Children’s Hospital, and André Bachmann, a professor of pediatrics in the Michigan State University College of Human Medicine, co-authored a paper describing this as a new condition.
It included the hope that they might treat Marley with DFMO, or difluoromethylornithine.
On the move
Difluoromethylornithine is well established for treating tropical diseases and it had already been in trials for pediatric neuroblastoma and colon cancer.
It also prevents hair loss.
Marley started the drug a little more than a year ago, delighting Kelly and Bryan, her parents.
She’s making new strides and her family is amazed by her rapid progress.
After spending much of her early life without hair, she’s turned into a sandy blonde, with eyelashes and eyebrows. She’s no longer underweight. She has packed on an impressive amount of muscle mass.
But the most exciting development? Marley is finally on the move.
“She’s gotten so mobile,” Kelly said. “She’s got this customized kind of army crawl she does and moves around the house.”
Her family keeps up with her as she scooches and inchworms along. They’re also mastering the art of understanding her new attempts to communicate.
“She is starting to express herself and she can get very frustrated and angry when we don’t understand what she wants,” Kelly said.
She’s learning some signs, too, including one for, “All done.” She can shake her head to indicate, “No.”
But there are often long bouts of screaming.
“You can just see the wheels turning,” Kelly said. “She’s thinking, ‘How can I get them to see what I want?'”
Marley’s story is the hope of how health care should be, Dr. Bupp said.
“By understanding her specific disease, we’ve been able to provide her with a targeted treatment.”
He describes Marley’s results as “completely astounding.”
When Kelly sent him a photo with Marley sprouting “a few eyebrows, I just sat in my chair, stunned, staring at the picture.”
And he felt thrilled the first time the little girl waved at him.
“She has come such a long way,” he said. “We all went into this treatment with our eyes wide open. We thought this might work. And now we are seeing scientific discovery happen right in front of us.”
Marley’s favorite toy is a Baby Einstein music box. It’s so essential to her happiness that the family has backups, just in case.
“She holds it up to her left ear and loves to listen,” Kelly said. Marley wears a hearing aid in her right ear.
She also delights in regular visits from Kelly’s dad, who plays the guitar for her and encourages the little girl to strum along.
“She is in control of the music and likes that,” Kelly said.
But most of all, Marley loves people. This includes her family, especially her older brother, Landon.
“But a stranger is fine with her, too,” Kelly said. “She just wants to interact.”
Another developmental leap is her growing affection for baby brother, Jack.
“We struggled when Jack came along because he required a lot of time, and with just one parent home at a time, it was hard for her to understand,” Kelly said.
It’s been wonderful to watch how Jack, even at this tender age, can recognize when Marley wants something, Kelly said. He’ll scurry to bring it to her.
“Now she thinks he’s hilarious,” she said. “She wants to play with him and steal his toys. It’s been cool to watch the relationship between the two of them change.”
Marley’s gene mutation continues to make her famous in the medical world, as does her response to the medicine.
“We’re kind of in the unknown right now. Nobody’s ever been treated for this with this drug before,” Kelly said.
But as Marley grows and can do more, the challenges keep changing. School has been especially problematic.
“She was a sickly kid,” Kelly said. “And once we started sending her to school, we just could not keep her well.”
She’s been home the past year, which has been a blessing. Kelly thinks the new medication may help, too.
“It’s been almost a year since she had a respiratory infection. We haven’t even had a sniffle,” Kelly said.
Marley now attends virtual classes twice a day. The family meets with teachers and an aide.
She eats four meals a day, pureed foods by mouth, but she still gets liquids through a feeding tube, a process that sometimes makes her restless. It can be exhausting.
“She has some really bad days with lots of screaming,” Kelly said. “And that’s hard, as a mom.”
Kelly said she has also learned to take time for herself.
“I’m a work in progress, too,” she said. “I’m attempting to have more ‘me’ time. My parents are nearby and help a lot, but I can feel guilty about that.”
There are also days when Marley’s many medical and therapy appointments make life chaotic.
Both Kelly and Bryan are nurses.
Kelly said it’s remarkable how caring for Marley has made her a better nurse, especially when working with patients battling chronic illness.
“I share my story and talk about it,” she said. “Other people are going through hard times. It’s turned me into a tremendous patient advocate—not just for Marley, but for everyone.”
She said she’s become more confident in her knowledge and skills and she’s quicker to advocate on behalf of patients.
“I’m like, ‘This is what’s right for this patient and this is what we need to make happen.'”