A baby girl from Alabama, one of only 430 people worldwide diagnosed with an extremely rare genetic condition, showed no signs of the disorder during a completely normal pregnancy. Crawford McWilliams, 38, and her husband Brenton, 39, were overjoyed when they learned they were expecting, and everything seemed normal until the birth.
Their daughter Shreve arrived five weeks early due to intrauterine growth restriction (IUGR), a condition where a foetus does not grow at the expected rate. She spent her first 16 days in neonatal intensive care, where she was diagnosed with microcephaly and brain calcifications. After further testing, at four months old, she was diagnosed with CTNNB1 syndrome, a neurodevelopmental disorder caused by a spontaneous genetic mutation.
Now at 19 months, Shreve is unable to walk or talk, but her parents describe her as “the happiest baby ever”. “She squeals with joy daily and has a smile that will melt your heart,” said Crawford. The family juggles physical, occupational and speech therapy appointments, alongside medical tests and procedures, as Shreve works to achieve milestones months after her peers.
Her future remains uncertain, but her parents remain positive. “It was a little bit of grieving of what we thought life would be like, but now we realise it is just all part of God’s plan,” Crawford added. They have found support through a CTNNB1 Facebook group connecting families worldwide.
