{"id":279766,"date":"2022-11-16T14:34:28","date_gmt":"2022-11-16T20:34:28","guid":{"rendered":"https:\/\/www.liveaction.org\/news\/?p=279766"},"modified":"2022-11-15T14:30:41","modified_gmt":"2022-11-15T20:30:41","slug":"groundbreaking-baby-girl-treated-genetic-before-birth","status":"publish","type":"post","link":"https:\/\/archive.liveaction.org\/news\/groundbreaking-baby-girl-treated-genetic-before-birth\/","title":{"rendered":"Groundbreaking: Baby girl successfully treated for genetic disease before birth"},"content":{"rendered":"
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To all outward appearances Ayla Bashir is a normal, happy, 17-month-old child. She began crawling right on time, and today she stands and walks, plays with toys, and has started saying her first words and phrases. The reason she\u2019s able to thrive today is thanks to a new way of treating her rare genetic disease \u2014 a form which is often fatal.\u00a0<\/span><\/p>\n

Sobia Qureshi and Zahid Bashir, Ayla\u2019s parents, have five children, with only three surviving. Two of their children, Zara and Sara, succumbed to a severe form of rare genetic disease called Pompe disease. In Pompe disease, an enzyme responsible for breaking down glycogen isn\u2019t produced by the body, or doesn\u2019t work properly, which causes dangerous levels of glycogen to build up in the body. This damages tissues in the body, especially muscles. Babies with the disease have low muscle tone and can have trouble eating and breathing. Eventually the heart muscle thickens and is unable to pump blood, causing the baby to die.\u00a0<\/span><\/p>\n

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After Zara died of the disease at age two and a half, and Sara passed away at eight months old, Ayla\u2019s parents were desperate to help their fifth baby, who also tested positive for severe Pompe\u2019s disease in utero. Dr. Pranesh Chakraborty, a metabolic geneticist at Children’s Hospital of Eastern Ontario and the family\u2019s long-time doctor, had previously tried treating both Zara and Sara with the enzyme. However, by the time they were able to start, the disease had advanced, and too many of their internal organs were severely affected.\u00a0<\/span><\/p>\n

Because Pompe disease starts to affect infants before birth, the best hope is to try in-utero infusions \u2013 something that had never previously been used to treat the condition. \u201cThe innovation here wasn\u2019t the drug and it wasn\u2019t accessing the fetal circulation,\u201d said Dr. Chakraborty, according to the <\/span>Washington Post<\/span><\/a>. \u201cThe innovation was treating earlier and treating while still in utero.\u201d<\/span><\/p>\n

Dr. Chakraborty was directed to a group of researchers at the University of California, San Francisco (UCSF) where Dr. Tippi MacKenzie is co-director of the Center for Maternal-Fetal Precision Medicine. She had <\/span>recently gotten approval from the FDA<\/span><\/a> for a clinical trial to treat preborn babies with the kinds of diseases like Pompe. While optimistic, Chakraborty was concerned about the hurdles Ayla\u2019s parents would have to face, especially since it was 2020, and the COVID-19 pandemic had begun shutting down travel and institutions across the country.\u00a0<\/span><\/p>\n