A two-year-old boy from Suffolk has been diagnosed as the only known person in the world with a deadly genetic condition, prompting a desperate fundraising race for a cure.
A Mother's Nightmare Begins
Oli-Jay Morris, from Haverhill, first showed signs of illness just hours after his birth on July 21, 2023. His mother, Melanie, 36, noticed his left arm shaking involuntarily. While he struggled to meet early milestones like sitting up and swallowing, the family's world was truly shattered by a "catastrophic" seizure on July 31 this year.
"I had him in bed with me and he sat bolt upright," Melanie recalled. "His whole side started shaking. He was making the most horrific noises."
Emergency services rushed Oli-Jay to the ICU at Addenbrooke's Hospital in Cambridge, where he was placed in an induced coma. Doctors warned his parents that he was not responding to treatment and they were simply "hoping for a miracle."
A Devastating Diagnosis
After he woke from the coma six days later, the family received the earth-shattering news on August 20. Genetic testing revealed Oli-Jay has a unique mutation of the DNM1L gene, known as EMPF1.
This mutation causes a severe form of mitochondrial disease, and his specific variant has never been seen before in any other patient globally. Medics admitted they had no idea how to cure him and could only treat his symptoms.
The brain damage he suffered has left him unable to speak, cry, or move voluntarily. He requires round-the-clock care, tube-feeding, and a cocktail of 14 different medications. His condition also causes dystonia and dyskinesia, and impacts his sight, hearing, and breathing.
A Family's Fight for a Future
With no existing cure, the family's hope now rests with an American firm, Unravel Biosciences. The company uses computational biology to create personalised treatment plans based on a patient's unique genetics.
However, the personalised analysis costs £14,000, sparking a fundraising campaign launched by Oli-Jay's aunt, Paige Morris.
So far, the appeal has raised over £11,000. The family hopes to not only secure the analysis for Oli-Jay but to contribute any extra funds to the DNM1L Foundation to help find cures for other mutations.
"We're spending every day making memories because we don't know how long he has left," Melanie said. "Our whole world is tipped upside down. As a mum, my hope is for a miracle for my son to be fixed and to find a cure for every child who is suffering."
