Dylan Miceli-Nelson is a typical 8-year-old boy who likes Star Wars, SpongeBob, video games and handball.
However, in one regard, he is far from typical: He has Duchenne muscular dystrophy.
Duchenne, one of the most common genetic diseases in males, occurs in one of every 3,500 boys, said Tyla Hamburg-Bohbot, whose son Josh Bohbot attends UCLA and has Duchenne.
Duchenne is caused by a lack of dystrophin, which acts as a shock absorber in the muscles, said Stan Nelson, a UCLA professor and Dylan’s father.
He said as affected boys grow older, their muscles, including the lungs, heart and skeletal muscles, get damaged and deteriorate.
While there were no treatments for a long time, therapies now exist, and treatments are rapidly approaching, said Carrie Miceli, a UCLA professor and Dylan’s mother.
Researchers at UCLA are fighting for a cure.
Dylan’s parents, Nelson and Miceli, are UCLA professors and researchers who have focused on Duchenne since their son was diagnosed.
Nelson said the couple’s research is in exon skipping therapy, which aims to actually repair the mutation in the RNA gene.
Through the American Recovery and Reinvestment Act, Nelson and Miceli were one of 200 recipients of a $1 million grant to further research in novel areas, Nelson added.
Along with their research, the couple’s mission is to open the first interdisciplinary Duchenne clinic on the West Coast at UCLA.
Interdisciplinary care will integrate the contributions of pulmonology, cardiology, endocrinology, neurology, physical therapy and orthopedics, Miceli said.
She said the clinic’s opening date will depend on the hiring of its head who can pull all of these distinct pieces together, so until then, patients will be treated in UCLA’s neurology-based clinic.
The UCLA community has been supportive of the clinic and the couple’s research, she said.
When she and her husband approached friends and colleagues from different fields, Miceli said that her fellow scientists were persuaded that the project was interesting and a good cause.
“We were also fortunate that an existing group of phenomenal researchers was willing to reach out, include us and push this forward,” she said.
Miceli said she draws support from her husband, herself, her friends and the community at UCLA.
“We are trying to do something really good, and we feel blessed that we have so much community to support us,” she said.
Hamburg-Bohbot, the mother of second-year Design | Media Arts student Josh Bohbot, said she also draws her support from family when facing her son’s Duchenne muscular dystrophy.
Hamburg-Bohbot said that Bohbot had two entirely different experiences, both medically and socially, in facing Duchenne in two different counties: France and the United States.
She said many of the old European cities are inaccessible for wheelchair-bound students, and one of Bohbot’s schools was unfriendly toward his disease.
However, when their family moved to the United States when Bohbot was 13, he had an entirely different experience.
“Everyone asked, “˜How can we help you and Josh have a better school experience?'” she said.
Now that Josh is at UCLA, Hamburg-Bohbot said she feels secure knowing that doctors who specialize in muscular dystrophy are right on his campus.
She is also excited to witness the progress of Nelson and Miceli’s research.
“They have the expertise and drive of parents who are really touched by the disease. They have the power to move mountains,” she said.
Hamburg-Bohbot said families affected by Duchenne will come from all over to receive care from the clinic at UCLA because similar clinics currently only exist on the East Coast.
“They have already had research at UCLA, but it needs to be translational, helping families in a very direct way,” she said. “UCLA is an institution of excellence, and it has everything it needs, but it needs to be brought under one clinic.”
Hamburg-Bohbot said she hopes awareness about Duchenne will be increased to promote funding and understanding about the disease and those affected by it.
“It’s a very difficult disease to live with,” she said. “The more people are aware of what it’s like to live with muscular dystrophy, the greater chances they’ll donate to the cause.”
Miceli said that science is currently at a point in history where the basic science taught in classrooms is translating into medicine that can help people.
“We’re setting a time in history. The time is so close, and we’re pulling this together at UCLA,” she said. “The opportunity is here to bring new clinical trials to state-of-the-art clinics, bringing better quality of life. That’s our message.”
Nelson said he and his family view their situation in positive terms.
“We live in the moment for what Dylan has to bring into the world today,” he said.