Treatment of a teenager with an ultra-rare condition is a medical milestone
- N1C Moderator
- 1 day ago
- 2 min read
January 19, 2026
Mila makovec was ten in 2021 when she died from an ultra-rare neurodegenerative disorder. But, though it had not saved her, she was nevertheless in the history books as the first to receive a drug designed for a single patient. And her story did not end there. After her death her mother, Julia Vitarello, set out to change how drugs are made, so that others with obscure genetic faults could have bespoke treatments more quickly and easily.
Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, they are unique. And unique problems need unique solutions. To that end, Ms Vitarello had, when her daughter was diagnosed, launched Mila’s Miracle Foundation with the goal of finding her a treatment and paying for it. In collaboration with doctors at Boston Children’s Hospital, it did so in the form of a molecule called an antisense oligonucleotide (aso).
After Mila’s death Ms Vitarello pushed regulators—first in America and then, with more success, in Britain—to think how developing individualised drugs for ultra-rare conditions might be simplified and accelerated. She also started a biotech company, Everyone Medicines, in Boston, to try to work out how to do this at scale.
Ne plus ultra
January 13th marked a turning point in her quest. After a change in the British rules, which her lobbying helped bring about, a girl known as patient a, who has an ultra-rare condition called Niemann-Pick disease type c (npc), was treated at Great Ormond Street Hospital (gosh), in London, with an aso devised by Everyone Medicines. And this time, rather than being a one-off, it is part of a trial intended to make such treatments routine.
The rule change was made by Britain’s Medicines and Healthcare products Regulatory Agency (mhra). This regulator has agreed that patient a and nine other children with similarly threatening neurodegenerative conditions can be treated with custom drugs under a new “master protocol” that is intended to standardise trials for the treatment of groups of genetic conditions within a single framework. It thus tests a way of making drugs rather than assessing a single medicine. Lawrence Tallon, the mhra’s head, said it was the “start of what is a very, very exciting future for the treatment of genetic diseases”.
