When Lightning Strikes Twice

May 6, 2015

Although it has been nearly two years since Judith and Carlos Torres learned that two of their six children—8-year-old Joel and 4-year-old Enrique—have Duchenne Muscular Dystrophy (DMD), the diagnosis still feels as unexpected and shattering as being struck by a bolt of lightning—twice.

DMD is an X-chromosome-linked genetic disorder that interferes with the body’s ability to produce dystrophin, a critical muscle-supporting protein. The disease, which primarily affects boys, generally passes from asymptomatic mother to son, in utero. Historically, boys with DMD learned to walk normally, then began to experience signs of weakness between the ages of 3 and 5, required wheelchairs as early as age 8, and passed away before they were 20.

“Learning that two of my sons have DMD and that I’m likely the carrier who passed it to them has been the hardest thing to accept,” Judith says. “The news nearly broke me.” What gives her family strength and hope, she continues, is the care, support and access to groundbreaking research they’ve found through the Mazza Foundation Neuromuscular Program at Lurie Children’s.

At the center of Enrique and Joel’s care team stands Nancy L. Kuntz, MD, a pediatric neurologist who has been at the forefront of DMD treatment and research for more than three decades. Judith credits Dr. Kuntz with enrolling Joel in a promising new clinical treatment trial, the Sarepta Promovi Study, which is one of 25 research studies the neuromuscular team at Lurie Children’s will participate in this year.

“Dr. Kuntz is a very dedicated doctor,” Judith says. “I feel her search to spread awareness of muscular dystrophy and to find a cure is personal.”

Unraveling mysteries, inspiring hope

According to Dr. Kuntz, DMD often strikes families with no history of muscular dystrophy. About 30 percent of DMD cases result from spontaneous genetic mutation, which makes reducing the rate of occurrence that much harder. “Up until very recently, DMD has been an incurable muscle disease characterized by rapid progression of weakness and loss of function,” Dr. Kuntz says.

It’s a different story today. “With current protocols for supportive care including steroid treatment and attention to pulmonary and bone health,” Dr. Kuntz says, “we now see individuals with DMD remaining ambulatory well into their teen years, going to college or other post-secondary training, and leading fairly independent, fulfilling lives well into their thirties.”

Nonetheless, individuals with DMD and their families face “incredibly complicated life challenges,” Dr. Kuntz says, including taking medicines on a daily basis, incorporating physical therapy and exercise into daily routines, and making frequent appointments for medical checkups, therapies and safety lab testing. “Maintaining normal social and academic schedules with limited mobility is a particular challenge for boys with DMD,” Dr. Kuntz says.

Battling poverty and cultural barriers

Factor in limited resources, language barriers and cross-cultural differences, and those challenges can feel even more overwhelming. “We serve a great number of Latino families, and many families struggle to obtain reliable, accessible housing and transportation—much less wheelchairs. Some of the parents are forced to carry their boys with DMD up and down two flights of stairs (or more) every single day,” Lurie Children’s social worker Jenny Kean says. “We are in the business of helping these beautiful families get whatever equipment, services, care and support they need to live more rich and independent lives.”

Nowadays, she continues, “We understand that there is no cure for DMD, but there is research in place in hopes of finding a cure soon. We can’t help but think about the future, but mostly we focus on the now.”

This article originally appeared in the Spring 2015 issue of Heroes magazine.