“An unborn baby was treated through her umbilical cord for a rare
genetic condition—the same disease that killed her two older
siblings—and the pioneering procedure prevented the infant’s death.
It’s the first time in history Pompe disease has been treated in
utero, and it could represent a life-saving new standard of care that’s
safe and effective for both mother and infant.
In Canada, the parents of 16-month-old Ayla were relieved
when she was born as expected, with no signs of the disease that can
cause lethal heart complications. Pompe affects fewer than 1 in 100,000
infants, but this inherited condition arising from a defective gene copy
is often fatal…
In March of 2021,
Ayla’s mother entered an Ottawa maternal hospital and over the
following weeks received 6 injections of an infant-Pompe drug called
alglucosidase alfa into the umbilical vein, a delivery method that’s
established for treating anemia in a fetus.
Ayla was born on schedule without any signs of the disease. She’s met
normal developmental milestones and doesn’t show any loss of motor
function. She still receives regular ERT. The results were compiled and
published in the New England Journal of Medicine.
“Our results are consistent with in utero ERT attenuating
or even halting the disease process in the fetal period,” the doctors
wrote in their case report.” -via Good News Network, 11/29/22
K this is a real problem for public libraries trying to supply their communities with media. We canât buy those shows on DVD either. And what about bringing the community together to watch a show or movie? We canât get licensing for it. We canât preserve those shows if streaming services never release them on DVD. Itâs frustrating and concerning.