With no treatment available yet for an 11-year-old Massachusetts girl with a rare disease, her parents have enlisted Jackson Laboratory to find a “one-of-a-kind mouse” to develop a treatment model.
At age 4, Talia Duff, who was born with Down syndrome, began to slowly lose motor milestones that were hard to achieve initially. Doctors believed her motor skills were delayed because of her Down syndrome.
It took six years for Talia to be diagnosed with a small subset of Charcot-Marie-Tooth disease, a hereditary neuropathy, or neurological disorder that damages peripheral nerves connecting the brain and spinal cord to muscles and sensory organs. Only about 22 cases of the subset known as CMT4J are known worldwide, according to Jackson Lab.
With a new diagnosis, “we set out on a journey,” said Talia’s mother, Jocelyn, who lives in Ipswich, Mass., with her husband and another daughter, who is 13. Gene therapy offers great promise for a treatment or cure, but such ultrarare diseases like Talia’s “receive little attention or funding,” she said.