Mom Told Her Baby Girl Was Healthy, but She Refused To Ignore the Signs
Summary
A mother in Chicago noticed her baby was not developing as expected and eventually got a diagnosis of a rare genetic condition called STXBP1. This condition affects brain function and causes seizures and developmental delays. The mother encourages other parents to trust their instincts and seek help if they feel something is wrong.Key Facts
- Laura Johnson from Chicago noticed her baby Mila had developmental delays starting at 5 months old.
- Mila lost skills she once had, like rolling over and holding objects.
- Mila began having infantile spasms before her first birthday.
- An EEG test showed Mila’s brain was having seizures almost all the time.
- Genetic testing diagnosed Mila with STXBP1, a rare neurological disorder affecting 1 in 26,000 to 30,000 births.
- STXBP1 causes developmental delays, seizures, movement and communication difficulties, with no current cure.
- Treatment includes antiseizure medicine and therapies for physical, speech, and feeding challenges.
- Laura shares Mila’s progress on social media and urges parents to trust their instincts and ask for more medical opinions if concerned.
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