A 16-month-old toddler from Ottawa city, Canada is being celebrated in the scientific community as the first child to get in-utero treatment for a genetic disorder that would have soon killed her as it did to her two siblings in the past.
The child received the “first-in-the-world treatment” while still a fetus after prenatal tests revealed she had Pompe disease. It is a genetic disorder in which kids are born with enlarged hearts and weak muscles. It is an extremely rare disease affecting less than 1/100,000 babies.
Doctors at the Ottawa Hospital and the Children’s Hospital of Eastern Ontario teamed up to deliver an enzyme that was missing in the child. Enzyme replacement therapy was used to treat the disease. The child’s mother was given six infusions of the enzyme between the 24th and 37th weeks of pregnancy. The enzyme was delivered into the fetal umbilical cord vein, using needles guided by ultrasound.
Clinical findings of ultrasound tests showed normal functioning and development of the child’s heart and motor functions. She continues to receive weekly infusions of enzyme therapy to maintain her development.
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