SANTA CRUZ, California — Sara and Chris Aluffi make no secret of the disease that afflicts their 7-year-old son, Joaquin. In fact, a big banner stretching across the driveway of the Aluffi residence promotes their most fervent wish: a cure for Duchenne muscular dystrophy (DMD).
To that end, Joaquin’s Warriors — the nonprofit group they launched in 2018 — has since raised about $150,000 for DMD research. Yet it’s been a tough journey for Chris, a tile contractor, and Sara, who manages The Crow’s Nest, a popular restaurant fronting the Pacific Ocean about 2 miles from their home.
“Joaquin was an amazing baby and hit all the milestones late, but not out of the realm of what was deemed normal,” said Sara, whose other son, 9-year-old Lucian, does not have DMD. “One day, Lucian’s kindergarten teacher saw me and said, ‘I really think there’s something going on here with Joaquin.’ So I took him to the special education office. They evaluated him and admitted him into a special ed preschool. Finally, he was with people who understood him.”
Then, in November 2017, just short of Joaquin’s 4th birthday, he suffered an anaphylactic reaction to timothy grass and had to be rushed to the nearest emergency room by ambulance. When his blood work came back, Joaquin’s doctor was shocked: the boy’s level of creatine kinase (CK), an enzyme generally found in muscle, was at 19,000, about 100 times normal — a telltale sign of DMD.
A subsequent genetic blood test at Stanford University confirmed Joaquin had DMD; that also explained his developmental issues.
“After they confirmed the diagnosis, I went back and looked at our videos,” said Sara, who is not a carrier of DMD. “I saw the way he ascended stairs and climbed his body up using the Gower maneuver. This was a textbook example.”
Since the Aluffis established Joaquin’s Warriors as a 501(c)(3) nonprofit, much of the money it’s raised has gone to CureDuchenne and other nonprofit groups for scientific research. It has also channeled some funds to Team Joseph, a charity based in West Bloomfield, Michigan, that buys medical equipment, accessible vans, and home modifications for Duchenne families.
Kerry Johnson, senior manager of CureDuchenne Cares in Newport Beach, California, calls the Aluffis “huge advocates” for families affected by DMD.
“They find ways to support their older son in all his endeavors while advocating for the younger one to take part in the activities,” she said in an email. “They’re overall sweet, driven, and fun people who would move mountains to cure their son, and they have a ton of support from their local community.”
Sara has spoken at previous CureDuchenne panels and is slated to appear at the CureDuchenne 2021 Futures conference, set for Oct. 8-10 in Grapevine, Texas.
Among other things, Sara is an avid runner and cyclist who played just about every sport in high school. Chris likes to surf. The family loves sports, particularly Joaquin, who enjoys swimming as well as playing baseball and soccer with Lucian.
“They play together all the time. Lucian is very patient with his brother,” she said. “The fine motor stuff is more difficult, like putting socks and shoes on. Joaquin needs help getting in and out of vehicles, but he can eat by himself.”
Sara said that after Joaquin’s nightly shower, she and her husband, “in true California form,” rub him down with cannabidiol-infused Wild Seeds Utility Cream, massaging their son’s legs intensively. Then they stretch him for 10 minutes.
“Medical professionals can’t really recommend it, but for us it works as a muscle relaxant,” she said of the cannabis byproduct. “I know many Duchenne families that use it.”
Since November 2020, Joaquin has been taking a daily dose of deflazacort (Emflaza®). These and other corticosteroids are believed to improve muscle strength and function in boys with DMD, while decreasing inflammation. In addition, clinical trials for potential DMD therapies often require daily steroid use as criteria for inclusion.
Yet weight gain is a common side effect, and in Joaquin’s case, he’s gained 10 to 15 pounds since starting deflazacort. For this reason, his parents try to steer him away from foods containing excessive fats, sugars, and complex carbs.
Sara explained that while the steroids don’t cause her son’s behavioral problems, they do make things worse.
“He definitely has a short temper. He doesn’t like change, and he needs to be front-loaded with what’s happening,” she said. “These problems have been magnified by the Emflaza. Some days are wonderful, and some days are absolutely unbearable.”