Better care for kids today and finding new treatments for tomorrow is the vision of a $5 million gift from a Hoosier family. Called “transformative” and “monumental,” the money aims to make Riley Hospital for Children at IU Health a national model for Duchenne muscular dystrophy, a condition that has affected the Ackerman and Nicholoff family personally. Already with a strong presence in Duchenne, Riley is honoring a two-prong mission for the money: ease the stress families feel when navigating overwhelming medical care and make dramatic leaps forward in research that will change the lives of kids with Duchenne.
The genetic disorder affects primarily boys and is characterized by the inability to produce dystrophin, a protein needed to build up muscles. As a result, every muscle in the body deteriorates; most kids with Duchenne are in a wheelchair by age 12 and the average life expectancy is 27.
Care for boys with Duchenne is incredibly complex; most kids see nearly 10 specialists—sometimes in a single day at the hospital. That’s why a portion of the funds is devoted to easing this stress for families by adding two care coordinators—nurses who “make all the difference in the patient experience,” says Riley Children’s Foundation President and Chief Executive Officer Elizabeth Elkas. The donation also establishes a free concierge service for hassle-free trips to Indianapolis when boys must travel to Riley.
In addition to easing the realities of care for kids with Duchenne, Riley is stepping on the accelerator for Duchenne research. Elkas says the $5 million gift will be a powerful catalyst to elevate Riley’s “already stellar” Duchenne program and make it a national model.
“For years, the medical community has made incremental improvements in the care of boys and young men with Duchenne,” says Elkas. “Our vision is to take a dramatic leap forward through research.”
Much of that research will center on the heart. Cardiomyopathy, or the weakening of the heart muscle, is the leading cause of death in Duchenne. Boys born today with Duchenne can live to 30 or slightly older, but for those with heart failure and significant cardiomyopathy, the average age of death is still 18 to 20.
“We have some ideas, but it’s not been clearly defined why some boys progress to cardiomyopathy and heart failure early in their [20s], and then you have other individuals who are in their [30s or 40s] and have very minimal heart muscle weakness,” says Riley Heart Center co-director Dr. Larry Markham. “Even though [Duchenne] is what we describe as a single gene defect—meaning one genetic change causes this condition—individuals with [Duchenne] don’t all behave the same from a cardiac standpoint.”
Riley is using the funds to collaborate with six other Duchenne centers throughout the U.S.; together, the team aims to pinpoint the genetic markers that contribute to one person with Duchenne having very early heart failure, while another patient does not. Understanding these genetic nuances could potentially open the door to new treatments; Markham hopes to advance two to three therapies to clinical trials in the next few years.
Markham, who is the Riley division chief for pediatric cardiology, says the funds will also increase the number of kids who have access to robust clinical trials by streamlining the process, ensuring their disease is evaluated “at the highest level.”
Markham believes the $5 million gift is also unique in its allocation, because it will “impact all areas of Duchenne.” Portions of the gift are devoted to three distinct areas: immediately improving care, advancing cardiomyopathy research, as well as gene therapy research.
“In conversations with the family, it became clear this gift was centered around, ‘If we could do something for Duchenne in general, what would we like for the next generations? How would we like them to be impacted in their care journey, but also, how would we like to move the field forward?’” says Markham. “When you look at that type of benevolence—of giving this gift not really so much for ourselves, but for the generations of Duchenne to come—you can’t help but be touched and motivated by that type of a gift.”
“[This gift] is all about optimism,” says Elkas. “It shows how a family with the capacity to give can change the outcome for so many. That’s the beauty of philanthropy.”
Elkas recently appeared on Inside Indiana Business Television with Gerry Dick to discuss the impact of the gift.
Riley is already part of a national Duchenne consortium that Markham helped develop during his previous stint at Vanderbilt University Medical Center; Markham says this means the infrastructure is already in place, so the gift will go directly to care and research.
Markham says a portion of the gift is devoted to “making it easier for patients who need our care to get in the door and meet all the great specialists committed to Duchenne.”