Karen Weintraub (USA Today)
November 26, 2023
Imagine you or your child gets a diagnosis so rare no one else on Earth is known to have it.
Doctors can do nothing but predict a terrible downward spiral followed by death.
That's the situation Luke Rosen and Sally Jackson found themselves in when their daughter Susannah was diagnosed in 2016 with an ultra-rare genetic condition.
They were told their daughter, who has a mutation in a gene called KIF1A, had about five years before her condition would begin affecting her beyond repair. At year six, they met a man named Stanley Crooke who promised to develop a medication just for Susannah.
"Right on the brink of hopelessness, we knew that Susannah could possibly and hopefully have a different life," said Rosen, a firefighter and former actor in Long Island, New York.
Now, after a year of an experimental treatment, the results are even better than they could have wished for.
Susannah is at the vanguard of a new movement in medicine: therapy so specialized it is designed for just a few patients, or even a single one.
Such bespoke therapies are possible because of advances in medicine including gene therapy, the messenger RNA approach used in COVID-19 vaccines, and a technology Crooke spent decades developing called antisense oligonucleotide, or ASO.
While an mRNA vaccine targeting a patient's cancer is in the works and gene therapies are being designed to tackle rare diseases, for children with ultra-rare diseases like Susannah, the best approach at the moment is an ASO targeting a protein involved in that patient’s disease.
Dr. Timothy Yu, of Boston Children's Hospital, was the first to treat a child with an ASO designed specifically for her. Although some ultimately have been unsuccessful at saving the children's lives, Yu hopes the lessons learned from them will lead to better outcomes for others.
He helped found an international organization, called N=1 Collaborative, with hundreds of clinicians, researchers, patients and companies focused on individualized medicines.
For his part, Crooke has set up a nonprofit called n-Lorem to design drugs for people with ultra-rare genetic diseases and provide them for free. He aims to eventually treat thousands of patients, producing enough medication with the hope that each will live a much longer and healthier life.
Weintraub, K. (2023, November 28). This lifesaving treatment was designed for one. could it be the future of Medical Care?. USA Today. https://www.usatoday.com/story/news/health/2023/11/26/rare-diseases-bespoke-medical-therapies/71654386007/