This is a printer-friendly version of an article from Zip06.com.

Riding for His Son’s Life: Figueres Joins ‘Race to End Duchenne’

Birthdays, Christmas, Valentine’s Day—four-year-old Agustin “Agus” Figueres loves looking forward to celebrations. But his dad, Enzo Figueres, wishes he could slow down time.

On Nov. 26, 2018, Agus was diagnosed with Duchenne muscular dystrophy (DMD), a rare genetic mutation that fatally targets boys and causes progressive muscular deterioration early in life.

“Boys with DMD lose their ability to walk in their teens, and eventually their hearts and breathing muscles give up,” says Enzo. “It’s a lifelong battle and a slow death sentence.”

DMD is the most common fatal genetic disease diagnosed in childhood. To date, there is no cure or treatment to stop its progression. But, as Enzo has discovered, “there is hope on the horizon.”

Recent advances in medical care and human genome research could crack the code to treat or cure DMD. That’s why, for his son, and for thousands of others like him around the world, Enzo is ready to go the distance to help end DMD, which is also commonly referred to as “Duchenne.”

On May 5, with Agus trailering along for the ride, Enzo will join the Race to End Duchenne team at the 2019 TD Five Boro Bike Tour in New York. He’s riding to support Parent Project Muscular Dystrophy (PPMD) by raising funds that will go directly toward researching a cure.

Enzo is proud to be supporting PPMD and grateful for the support he has found, as a parent of a child with DMD, through the organization.

“This organization has been amazing. I even spoke myself with founder,” says Enzo of PPMD president and CEO Pat Furlong.

A parent of two sons diagnosed with DMD, Furlong founded PPMD in 1994. Today, it’s the largest nonprofit organization in the country that’s solely focused on DMD. For more information, visit www.parentprojectmd.org.

“She is a remarkable person and I really admire her doing so much not only to help families, but lobbying Congress to speed up the process, and trying to raise money for research,” Enzo says.

Right now, Enzo is hoping to raise as much money as possible by sharing the story of his son, information about DMD, and the Race to End Duchenne online at the Team Agus4Ever fundraising website, join.parentprojectmd.org/goto/agus4ever. Contributions are 100 percent tax deductible and all funds will go directly toward researching a cure. At the team’s web page, Enzo, a hobbyist photographer, has also posted a heartfelt Agus4ever video slide-show. It tells the story of a beautiful little boy, a loving family, the impact DMD has had on their lives, and the need to find treatment or a cure.

Enzo is willing to ride many miles to help his son and others. A mountain biking enthusiast, Enzo says Guilford’s great trails system was one reason his family moved to town. For the Race to End Duchenne, he’ll take to cycling the streets of New York for a 40-mile father-son ride. Enzo says he is honored to bring Agus with him on the journey.

“It’s 40 miles, with 20 pounds of bike trailer and 38 pounds of son. It’s a bit of a challenge for me, but I like the challenge. Even if my legs are sore, they won’t be as sore as him. When his muscle fiber breaks, it doesn’t return. Even if I’m limping for a couple of weeks, I’ll get better. He won’t,” says Enzo.

Enzo first came to the U.S. in 2004. Originally from Argentina, Enzo met his wife, Alejandra Alonso, in architecture school. They now both work at Pelli Clarke Pelli Architects in New Haven, where Enzo is a senior associate. Enzo gratefully acknowledges the firm for its support of his family, including Pelli Clarke Pelli’s commitment to match all donations raised by Enzo’s participation in the Race to End Duchenne. The family is also grateful to everyone who has already responded with donations to the effort (at press time, more than $6,000 had been raised).

Although Enzo and Alejandra were living comfortable lives in Argentina, after they married in 2006 they decided the could offer better lives to their future children if the family lived in America.

“It was a hard decision,” says Enzo. “Even though I come from an underdeveloped country, we had a decent life. But for kids, I think they have better opportunity here. For us, as first generation, it’s hard to adapt. But the kids will do well. They will speak the language perfectly.”

The couple’s daughter, Guadalupe (she’s called Guada, pronounced “Wada”) was born in 2010, followed by Agus in 2014. His son’s name, a different take on “Augustus,” is a powerful one that reflects a hope for great success in life, says Enzo.

“Agustin comes from Augustus, which means ‘great’ or ‘venerable,” as derived from Latin augere, which means ‘to increase,’” Enzo notes.

The family moved from New Haven to Guilford before their children were in school.

“We used to live in New Haven, which we liked—it was close to our jobs—but then the kids needed to start school and we wanted the best for our kids, so we moved to Guilford,” says Enzo. “Everything you do in your life is for your kids. And then to find out one will lose his ability to walk in his early teens, and lose his ability to breathe in his early 20s, is devastating.”

The Early Signs of DMD

In Agus’s case, there was no family history of DMD to act as a red flag. If Enzo could turn back time, he says he would be more aware of the hints that were given in the years running up to Agus’s diagnosis.

“I regret it took too long to diagnose,” says Enzo. “Honestly, if I trail back in time, I feel a lot of guilt for not being more pushy with the doctor. I guess our tendency is not to worry.”

Hoping it will help other families, Enzo is willing to share their story. Looking back, he notes Agus presented a pattern of muscle weakness, as well as experiencing delays in reaching developmental milestones, although Agus eventually got to those goals.

“He always got there,” says Enzo.

When Agus was three, “we took him to a screening program for special intervention, and we were told even though he has some delays, it wasn’t something that he would qualify for,” Enzo recalls.

The family now knows delays such as learning to walk late and other sluggish muscle-related development are signs of DMD. The diagnosis was confirmed after Agus underwent testing for creatine kinase (CK) levels in late 2018. The blood test hunts for the appearance of CK, an enzyme that exudes from damaged muscle. Elevated CK levels indicate abnormal destruction of muscles from causes such as muscular dystrophy.

“It’s important for parents to know about the CK test for kids who have developmental delays and muscle weakness,” says Enzo. “In Agustin’s case, the CK levels were extremely high, like 200 times more than normal.”

Another sign Enzo said could have helped the family to recognize a deeper underlying issue was when Agus didn’t make the adjustment to preschool, where his physical ability was well below his peers, and behavioral issues began to emerge. These were more signs of DMD, says Enzo.

“DMD creates a range of issues; there can be a history of ADD [attention deficit disorder] or being on the autism spectrum,” Enzo notes. “So we had to remove him from preschool because he wasn’t adapting well. After a long process, he was made eligible for special education, and he’s doing great. He has always had a great personality. He’s super fun and super happy.”

His family is also thrilled with the support Agus is receiving from the professionals at Guilford Lakes Elementary School.

“The Guilford Lakes’ psychologist, Sheryl Shyloski, has been such a great support, and everybody at the school has been great—the nurse, the teachers, the PT [physical therapy] people,” says Enzo. “We are really grateful to them, and proud to live in a town with such a good education system!”

The family is also grateful for its Guilford neighbors, the Jones family. Lisa Jones is also Guilford Center for Children’s Early Education Program director.

“Our neighbors, the Joneses, help us in every way [from] looking after our daughter when we have to go to long appointments [to] keeping us happy,” says Enzo.

As Enzo gears up to ride with Agus on May 5, he’s also holding out hope Agus may be found eligible to participate in a complex, expensive genetic test for treatment that’s undergoing final approval (due to a range of side effects). At age four, Agus may already be too old to participate in such a trial, his dad notes. As Enzo knows, time is the enemy for children with DMD.

“Even though there is no cure, finding treatment is very important. This is to slow down time, to buy time, to slow the progress, to give technology time to catch up,” he says.

Meanwhile, Agus is enjoying every day, and especially anticipates holidays and other special days of the year.

“He loves celebrations,” says Enzo. “He was looking forward to Christmas; now, it’s Valentine’s Day. But I think, ‘I don’t want to go there. I want to slow down time.’ His last birthday was [a] dinosaurs [theme]; now he’s really into Ghostbusters. But I don’t want him to be five yet. It’s a bittersweet feeling.”

Donations can be made online at http://join.parentprojectmd.org/goto/agus4ever. Donations by mail are also welcome; send checks made out to Parent Project Muscular Dystrophy (note “Enzo Figueres/Five Boro Bike Tour” in memo) and mail to: Parent Project Muscular Dystrophy, 401 Hackensack Avenue, 9th Floor, Hackensack, NJ 07601.