It’s a race against time for Lorena as the battle continues for Elijah and treatment for MCHS

From the moment Elijah was born, Lorena and her husband sensed a difficult path was ahead. And within four months, their fears were confirmed when they noticed feeding difficulties and delays.

When he was just one year old, they received Elijah’s diagnosis: MEF2C Haploinsufficiency Syndrome (MCHS), caused by the deletion of the MEF2C gene. The neurologist had never heard of it, and the family were left with little information.

For Lorena, hearing those words changed everything, and for many months she felt it would be impossible to feel joy again.

Elijah is now five but remains profoundly delayed. He cannot sit independently or move on his own, and his cognitive abilities are closer to those of a five-month-old. He needs help with every daily task and is unlikely to develop beyond the abilities of a two year old. Yet, his joy and laughter—hard-earned but deeply rewarding—are among the most beautiful parts of the families lives.

Pouring hours into physiotherapy while juggling full-time jobs, Lorena and her husband have taken on the added challenge of taking on the Leeds Half Marathon to raise funds for a charity they started in 2023, the MEF2C Foundation.

They advocate, raise awareness, and fund research because a treatment is possible. And thanks to their hard work in 2023 and 2024, funding a lab at the Medical University of South Carolina, they know that progress can be made—but it requires investment and urgency. Rare diseases are often forgotten, even though treating MCHS could unlock solutions for other conditions.

After successfully raising $500,000 for drug discovery—thanks to a global movement where MEF2C families united—the charity is now focused on clinical trial readiness. But another $500,000 is needed to complete the Natural History Project. Without funding, a treatment could be found that works in the lab but never reaches patients.

This is a rare opportunity. Many conditions have no treatment, but for MCHS, it is within reach—if funding keeps pace. Every day without treatment may determine whether these children gain independence or remain fully reliant on others. The urgency is real, and the stakes couldn’t be higher.

Lorena shares her story because Elijah deserves a better future—one where he can learn, explore, and thrive. Every individual with MCHS does. They just need the world to hear them.

Good luck to them on Sunday as they race against time.