Yusuf was a healthy, active, smiling baby. Until, all at once, he was not.
It happened on an airplane. Irfan Patel and Farheen Mohamed had taken their son to India to visit family. Yusuf, then nine months old, charmed everyone. But on the flight back to the U.S., he began to struggle to breathe. Seizures racked him. His little body went limp.
“I thought he was gone,” Farheen says.
The plane made an emergency landing in Istanbul, and Yusuf was whisked to a hospital in a coma. When he at last began to recover some function, his parents flew him back to the U.S. for further assessment.
Within days, they received the diagnosis that would change all their lives forever: Yusuf had methylmalonic acidemia (MMA).
“The doctor came and told us this would be a lifelong challenge.”
Methylmalonic acidemia, or MMA, is a rare and life-threatening genetic disorder, affecting 1 in 25,000 to 50,000 newborns. A mutation in the MUT gene prevents the body from properly processing certain fats and proteins. As a result, toxic metabolites accumulate in the liver, in muscle tissue and in the brain. Symptoms include vomiting, lethargy, seizures, developmental delays and organ damage.
Read more about how LogicBio is working to help people living with MMA.
Yusuf is 16 now, and in some ways, he’s done remarkably well. He’s a freshman in high school who loves to play video games. But there are also frustrations. His muscle tone remains weak and he can’t bike or play basketball. “It’s hard for him, because he wants to be accepted,” Farheen says.
He faces ongoing medical challenges. As a child, Yusuf was hospitalized nearly every month with severe infections or metabolic crises. At 10, overcome by fatigue, he received kidney and liver transplants. The transplants improved his quality of life; he has a bit more appetite and he’s allowed to eat treats like chocolate and ice cream in moderation. He’s still prone to infections, though, and cycles into the hospital every few months.
“I try to spend my day as a normal kid, but It’s difficult to do things that come easy for other kids. Keeping up with daily meds, regular lab work and frequent hospital visits are very hard,” Yusuf says. “Sometimes I envy kids who do not have to worry about these things. The energy level and emotions are different each day.” Then he adds: “I am told that I am special, and I guess I am.”
Our development program:
LB-001 is an investigational, first-in-class pediatric genome editing therapy designed to save lives and prevent severe disabilities through early intervention. LB-001 uses GeneRide to incorporate a functioning version of the faulty MUT gene into the genome of MMA patients.
For questions and updates regarding our LB-001 program, email email@example.com.