They created medicine for Susannah. What about millions of other patients?

8-year-old Susannah Rosen spent much of her childhood in New York hospitals as doctors documented the gradual loss of her ability to stand, walk and to see.

But during a visit in October, her parents thought for the first time that she might leave the hospital better than before. That's when surgeons infused a drug into his spine to fix the ultra-rare genetic problem that had plagued his nervous system since childhood. because something terrible happened,” Susannah’s father, Luke Rosen, said. "This time there was hope for something that would cure her."

Susannah was the first person to receive a drug designed to treat the neurological disorder associated with KIF1A, or KAND, a progressive disease caused by genetic mutations that affects only 400 people worldwide. In doing so, the young girl and her parents found themselves at the forefront of personalized medicine.

Since the technology of these tailor-made genetic drugs debuted in As of 2018, around two dozen patients received the infusions – costing up to $2 million per patient – ​​to treat a range of neurological syndromes. But hundreds of millions more, mostly children, live with rare genetic conditions and have no treatment options.

Susannah's medicine, which lasted nearly two years, was paid for by a non-profit organization, n-Lorem, which aims to do the same for at least 1,000 patients over the next decade. By raising funds and negotiating rebates and in-kind donations from biotech companies to manufacture its drugs, the n-Lorem founder believes, the organization can fulfill its mission to "leave no child behind". /p>

But other rare disease experts doubt that a donation-based funding model will ever be large enough or sustainable enough to help millions of patients. They are looking for other ways to accelerate the development of the technology, including seeking help from for-profit companies.

ImageSusannah at home with her brother, Nat, and her father, Luke Rosen.