U.K. Mom Says Moving to the U.S. Is the ‘Only Chance’ to Save Her Son, 16 Months, Who Was Diagnosed with a Rare Genetic Condition

A family from the United Kingdom is contemplating a significant move to the United States to pursue a pioneering treatment for their young son, Eliyas, who has been diagnosed with a rare genetic condition. 16-month-old Eliyas suffers from leukodystrophy, a disorder affecting brain development and body movement, that only affects about a dozen children worldwide. His mother, Jasmin Matharun, expressed the overwhelming nature of the diagnosis, saying, “It was an utter shock. Our world completely stopped.”

The family’s concerns first arose when Eliyas began missing key developmental milestones as a baby. Matharun recounted her feelings of disbelief when learning of his condition, stating, “As a parent, all you want is for your child to be healthy and happy. You don’t think they’re going to be diagnosed with an ultra-rare brain condition. Something so random, something not inherited.” The diagnosis left the family feeling as if their lives were suddenly constricted, with Matharun describing the experience as if “the walls had closed in on us.”

Eliyas is currently reliant on a multitude of therapeutic interventions, requiring constant care akin to that of a newborn. Matharun explained, “His brain and his body are not catching up with each other. It’s essentially like having a newborn for 16 months.” This daily routine involves extensive physiotherapy aimed at promoting any potential developmental progress.

Amidst their struggles, the family has identified a groundbreaking clinical trial taking place in Chicago, which focuses on treatments for leukodystrophy. However, the prospect of relocating to the United States for therapy presents substantial financial challenges. “It’s the only chance we’ve got,” Matharun remarked. “We don’t have any other option. It’s genuinely life or death for Eliyas.” The urgency of the situation is underscored by the knowledge that according to medical projections, Eliyas may experience significant decline by the age of three, leading the family to seek immediate action.

To help facilitate this move and treatment, the family has created a GoFundMe page that has successfully raised over $34,000. The funds will assist in covering the treatment costs and the family’s extended stay in the U.S. in the aftermath of the procedure.

Professor Elizabeth Berry-Kravis, who leads the trial at Rush University Medical Center, confirmed Eliyas’s diagnosis and noted the challenges presented by his early onset of the condition. “He’s very motor delayed; he can look at you and interact and communicate some,” she explained. However, the progression of the disease hinders his development, preventing him from achieving the typical milestones expected for his age.

The proposed treatment involves gene therapy delivered via a spinal tap, where medication aims to genetically correct the underlying condition. This intervention, however, necessitates the family to remain in the United States for multiple months post-treatment, during which Eliyas’s development will be closely monitored.

Berry-Kravis elaborated on the process, stating that patients are observed for six months or longer while their developmental progress is tracked across various aspects, including speech and motor skills. “We have a trajectory — we have a rate of gain from before the patient gets treatment and then they go on the treatment,” she shared, emphasising the importance of thorough monitoring during this crucial development phase.

Thus far, only two patients have undergone this specific treatment for leukodystrophy, and Professor Berry-Kravis cautioned that it is still too early to assess the long-term effectiveness of the therapy. “It’s always hard when a patient has developed abnormally for a while to change the brain and correct the abnormal development,” she remarked, acknowledging the complexity of such cases.

As the Matharun family navigates this challenging path towards hope for a brighter future for Eliyas, they remain resolute in their desire to provide him with the best possible care, even as they confront the daunting realities associated with such a rare condition.