Saturday, November 26, 2022

Illness Treated In Womb By Gene Therapy

Doctors completed a new type of treatment for the first time for a patient affected by Pompe Disease. Pompe Disease is a condition where the body can't break down Glycogen. A mutation in an enzyme responsible for Glycogen breakdown prevents it from operating, and Glycogen levels build up in the body. Normally when an infant is found to have the disease it is treated with new enzymes right after birth. The new enzymes will fill in for the non-functioning ones, and Glycogen can be managed. Sometimes the body rejects the new enzymes, however, and if the disease is not treated it is usually fatal to children within a year. 

While treatments have existed before for Pompe Disease, this was the first time the treatment was carried out with a baby before birth. The patient's name was Ayla and doctors inserted a needle into her mother's abdomen and guided it to an umbilical cord vein so the life-saving enzymes could be administered to Ayla. Ayla is now one and a half years old and still goes for weekly drugs and enzymes to help her with her disease. But having received the enzymes first before birth the family is hopeful that it strengthens her body's response to the weekly enzymes and helps her to live a healthy and long life. 

I found this article very interesting. I had not previously known about Pompe Disease, but I am glad that treatments for it have been developed and are still being improved. I hope that new advances like this one help to combat the disease further to save the lives of others living with it like Ayla. 

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