After a normal pregnancy Alice was born big and healthy. Only the hearing exam showed some changes. At 6 months of age, she was hospitalized for 3 days because of possible seizures.
At 9 months of age, Alice didn’t sit without support, so we started our journey with neurologists. After blood tests, MRI and finally the whole exome sequencing we had the diagnosis, a mutation in the ECHS1 gene.
At 2 years and 2 months Alice does therapies daily, eats everything and very well orally, has no optic or cardiac anomalies. According to the therapists she has been developing very well! After the scare, comes the fight!