Doctors Treat Fatal Genetic Disease Before Birth

 Ayla Bashir, a 16-month-old from Canada, was the first-ever child to be treated for a rare genetic disease known as Pompe disease before she was born. Pompe disease is a rare genetic disease where glycogen builds up in the lysosomes of cells. The disease occurs when the person lacks the digestive enzyme called acid alpha-glucosidase (GAA), which is responsible for degrading glycogen in the lysosomes of the cell. There are two types of Pompae disease, one where it develops in infants, and one where it develops later in life. Symptoms of both include progressive muscle weakness and poor muscle tone. Also, the enlargement of the heart, liver, and tongue may occur. This disease was also present in both of Ayla's older sisters but they passed away. While in utero, Ayla received enzymes inserted through a needle into her mother's abdomen that was guided into a vein into her umbilical cord. She received 6 bi-weekly infusions starting just at 24 weeks. Usually, babies with this condition are treated with the enzymes after birth. However in some babies such as Ayla, their immune system blocks the enzymes from working in the long run. Because the enzymes were given to Ayla while in utero, the doctors hope that her immune system will not reject the enzymes. However, the disease is progressive and gets worse over time. Therefore only time will tell whether or not the enzymes will work and the disease will cease to progress.

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.