BAR HARBOR, Maine — There are many motivations for people who are planning to run in the 11th annual Mount Desert Island Marathon this weekend.
For most of them, their main motivation likely will not be a 6-year-old girl and a mouse. For several people running in the 26-mile foot race this Sunday, however, it is an opportunity to raise money for research aimed at benefitting a girl with Rett syndrome who lives in Mount Desert.
Eliza Sprague has a distinct mutation of Rett syndrome — the only known documented occurrence of the mutation in the whole world — and scientists at the biomedical research lab are breeding a specific mouse model that will be used to study her condition.
Last year, Eliza’s mother, Meghann Harris, ran the marathon with a goal of raising $25,000 to fund the creation of the mouse model. Harris completed the course and ended up raising $39,000 for the ongoing project and research effort.
“That was the first time I had ever run a race,” Harris said this week. “With [helping] Eliza on my mind, it was easy.”
This year, however, it is employees at the lab who will be running to raise money for Eliza’s cause. The marathon is scheduled to begin at 8 a.m. Sunday, Oct. 14, on Main Street in Bar Harbor. The race course winds through the villages of Otter Creek, Seal Harbor, Northeast Harbor and Somesville and finishes in Southwest Harbor.
In typical Rett syndrome cases, symptoms manifest at 18 months of age and cause toddlers to regress, losing abilities such as making eye contact, crawling and walking, that they’ve established over the first year and a half of life. Rett patients can live into their 40s but spend much of their lives incommunicative and in a wheelchair.
According to Harris, Eliza was diagnosed with Rett syndrome at 12 months of age, after her family noticed that her daughter wasn’t reaching these normal developmental milestones. But to the surprise of her family and doctors, Eliza did develop these abilities, only at a slower rate than children without Rett syndrome.
Rett syndrome is an autistic spectrum disorder, Harris said, and so presents Eliza with both cognitive and physical challenges. Erratic breathing is one symptom of Rett syndrome, Harris said, which can affect speech and physical coordination. Eliza can walk and talk, though not as well as most children her age.
Harris said Friday that Eliza has responded well to physical therapies, however, and that she and her husband Shawn Sprague have pushed their daughter to pursue them because of the benefits they provide. Harris said her daughter’s ability to stay upbeat and committed to her therapy sessions — for an hour at a time, six times a week — has been an inspiration to her.
“She’s just so strong,” Harris said. “She fights through the difficulties. When I see what she does every day, it only seems right that I match that.”
Harris, who was a soccer player in college, acknowledges that she does have some limits. She is not running the marathon this year but in her place is Cathleen Lutz. Lutz, who has become friends with Harris and Eliza, leads the research team at Jackson Lab that is spearheading the effort to develop a mouse model for mild Rett syndrome cases.
“It’s a very rare case,” Lutz said Wednesday about Eliza’s mutation. “It’s never been reported before.”
Lutz, whose research focuses on neurodegenerative diseases such as Rett syndrome and spinal muscular atrophy, said she first heard about Eliza from her husband, who works at a local bank with the girl’s grandfather.
Through that connection, she said, an appointment was set up for Lutz to meet Eliza and her family.
So when she first met with Eliza and Harris at the local YMCA a year or so ago, she was surprised to see that Eliza could walk, talk and be sociable.
“The first thing I said to Meghann is ‘Are you sure [she has Rett syndrome]?’” she said. “Eliza is very engaged. She’s very active. She’s very strong.”
Lutz was not only struck by Eliza’s particular condition, but she was impressed with Harris’ determination to do something to help her daughter.
When they met, Harris asked Lutz about what kind of research was being done about mild Rett cases such as Eliza’s. According to Lutz, the only mouse models out there are for more severe Rett cases, which would be ineffective for studying more subtle versions of the disease. And the National Institutes of Health, which provides the lab with millions of dollars in research funds, places restrictions on how that funding can be used, she said.
“NIH doesn’t just hand you money to make a new model because you are interested in it,” Lutz said.
So Lutz told Harris that, to begin work on creating a mouse model with the same mutation that causes Eliza’s more mild form of Rett syndrome the lab likely would need $25,000. She was surprised, she said, when Harris said she would raise the money by running in the marathon.
Lutz said she has run marathons before and knows how difficult it is to train effectively and then to run the race. Harris’ determination to do it, without any prior experience, has stayed with the scientist.
“I was very impressed with the fact that she pulled this off,” Lutz said. “She’s really pushing this effort in ways that many parents don’t have the energy to do.”
Lutz said her decision to run this year is out of admiration for Harris’ commitment. Lutz said she will have some company along the way. Other lab employees will be running in the race and have offered to help raise funds for the cause, she said.
Lutz said she and her team have made substantial headway in the past year toward developing the model but still face some technical challenges in bringing it to fruition in the form of a living, breathing mouse. How much time, and how much money, it might take to bring the mild Rett mouse model to life, she does not know.
“We knew it wasn’t going to be easy,” Lutz said. “We have to back up a step or two [and try again].”
The goal, once researchers have a biologically engineered mouse they can study, is to examine how the syndrome manifests in the mouse — what symptoms it has (if any), how those symptoms might change over time, and what biological factors might affect those symptoms, Lutz said. If enough about the affected mice can be understood, researchers then could begin to test various drugs to see what effect they might have and what kind of effective treatments might be developed.
“It’s probably not going to be a cure,” Lutz said. “It probably will be a treatment of symptoms.”
If developing the mouse model has not been easy, running the marathon on Sunday won’t be any easier, Lutz added. She has competed in marathons over flat terrain before, she said, which she considers “a piece of cake” compared to the MDI Marathon’s hilly course.
Lutz said it has been a few years since she ran a marathon and admitted she is a little scared. But she said she is not too concerned about what her finish time might be.
“It’s more about the camaraderie than it is about the competition,” the scientist said. “And a lot of it is about raising awareness [about Eliza’s condition].”
For information, or to donate money to the project, visit the Facebook page for Run for Eliza and Rett Syndrome.
Follow BDN reporter Bill Trotter on Twitter at @billtrotter.