My son’s time is running out due to a rare disease. The FDA needs to add more clinical trial flexibility

By Judy Stecker

Feb. 28, 2023

My toddler, Wheeler, will probably not live to adulthood. Juvenile Batten disease — he has the type known as CLN3 — is stealing his childhood. And then this rare disease will steal my child.

Wheeler is missing the DNA needed to recycle a waste product called lipofuscin that his cells naturally produce. As lipofuscin builds up, his condition will get worse, robbing him of his eyesight, his speech, his mobility, and ultimately his life.

Our only hope is finding a treatment to cure, or at least a way to slow down this unrelenting disease. At age 3, Wheeler already has sleep and behavior problems, as well as delays in his speech and fine motor development. He recently began moving closer to the TV and rubbing his eyes, signals that in a matter of months or weeks he may soon live the rest of his life blind.

Read the full article here

FDA needs to be more flexible assessing rare

The FDA needs to be more flexible in assessing treatments forrare diseases, like the one that seemed to help my son

By Karen Quandt Sept. 7, 2022 Maria Fabrizio for STAT

Every time I read about clinical trials testing possible treatments for rare diseases, I think of my son, Ty, whose brief but successful foray into such atrial highlights their value and their devastating limitations. Ty was born in Pocatello, Idaho, in October 1996 with green eyes, a big personality, a great sense of humor, and — as we finally learned eight yearslater — a rare and fatal disease called Niemann-Pick type C. He appeared to be healthy at birth, and hit all of his first developmental milestones of walking and talking and growing. Yet we realized that he hadtrouble moving his eyes upward, and had to move his whole head to look up. Then his fine motor skills and balance began to lag, and he had difficulty learning. An enlarged spleen complicated the picture.Ty was eventually diagnosed with Niemann-Pick type C.

See the full article here