Dedicated to Patients with Orphan & Underserved Chronic Diseases

ReAijah never expected a routine blood test to change her life forever. Early in her first pregnancy, she and her co-parent learned that their son would have Duchenne muscular dystrophy, a rare, progressive, fatal disease she had never heard of. After her son, Keelan, was born she met with a neurologist who provided the first good news ReAijah had heard since the diagnosis–treatments for Duchenne were emerging and there were multiple clinical trials underway. Almost immediately, ReAijah began Keelan on an exon-skipping therapy. When her second son, Kye, was also born with Duchenne, she followed the same course. When gene therapy became available for both of her sons in 2023, ReAijah didn’t hesitate; both boys received it as soon as they were eligible.

Today, Keelan and Kye are five and four years old, and thriving. ReAijah and her co-parent have a strong partnership focused on giving their boys a happy fulfilling life. Her greatest fear is losing her children too soon and her deepest wish is simply that her sons get to pursue their dreams. She urges researchers to prioritize the children whose mutations still have no treatment options, because for every family living with Duchenne, time is the one thing they cannot afford to waste.

When Betty’s four year-old son Max was flagged for gross motor delays during a routine checkup, she wasn’t concerned. He was her second child, and she’d always been careful not to compare him to his older sister. However, when Max began physical therapy, the therapist quickly recognized the signs of Duchenne which resulted in a timely diagnosis. As the genetic profile and physical signs were explained, Betty knew that her two-year-old son Rowen also had Duchenne. She was pregnant with her fourth son, Charlie, at the time of Max’s diagnosis, and when he was born - it was confirmed that he also had Duchenne. A single clinic visit flipped their entire world upside down.

When Max, Rowen, and Charlie were younger, Betty asked researchers to find something to help them continue to walk and preserve their upper body strength. Now, sixteen years into their Duchenne journey, Betty’s perspective has shifted. Her sons - Max at 20, Rowen at 17, and Charlie at 15 - are young men now and have lost ambulation and upper body strength. Betty now encourages researchers and companies to not forget the older boys who still have so much life to live. Her greatest fear is losing her sons and she hopes they will have happiness and independence, and continue to live long and fulfilling lives.

Amanda’s son, Cade, was born 10 weeks early and always moved through the world a little bit differently than other kids. For years, Amanda raised concerns about his developmental milestones, but was always reassured that any delays were because he was premature and not to worry. After a preschool therapist expressed concern that something was going on with Cade’s muscles, they received a dispassionate and cold diagnosis of Duchenne muscular dystrophy without mention of treatment prospects. Amanda switched doctors and refused to accept that nothing could be done. Cade walked until he was 17 and then enrolled in an exon-skipping therapy trial to try and preserve his muscular strength. He completed the trial, despite needing to travel three hours each way for appointments, telling his mother “If this helps someone else, I’ll do it.”

When Cade was 12, he had a heart attack, and his heart function is what continues to keep Amanda up at night. Amanda is also concerned about the quieter losses that may occur: Cade’s ability to play video games, try new food, and his spunky attitude. For researchers, Amanda has a direct request: don’t leave older boys behind and don’t leave rare mutations behind.