Bronwyn was born August 18, 2011. Despite being on bedrest for six weeks before her birth due to high maternal blood pressure, the pregnancy was rather uneventful. Bronwyn was frank breech, therefore a C-section was necessary. No complications were experienced with her birth, other than needing oxygen for an hour or so after birth. Bronwyn passed all of her newborn tests with no concerns noted.
As a newborn, Bronwyn cried a lot, but it was chalked up to colic. Different formula was tried to help, only now do we know it was a FOXG1 trait. She also sounded like a honking goose when she breathed as she slept, a stridor. Several scopes were done, but no cause was found and it subsided as she grew. These would be the first of many medical tests needed to solve the mystery that was Bronwyn.
As first time parents, we did not notice any issues with our baby’s development until she was four months old. Our niece, Madison, born 18 days after Bronwyn, was nearly sitting on her own by Christmas that year, where Bronwyn would just flop over to one side when put in a sitting position. By six months old, Bronwyn’s pediatrician was noting the delays and Bronwyn’s head circumference growth also was lagging behind on the charts. The pediatrician put us in contact with the local Area Education Association for physical and occupational therapy intervention.
At nine months, the pediatrician was concerned enough by the definite delays to order a panel of chromosomal genetic testing. She also made an appointment for us with a geneticist for further testing. That initial panel of tests came back normal. We were unable to get in with the geneticist until Bronwyn was 15 months old. After visiting the geneticist, the waiting game began – waiting for insurance approval for the tests, then waiting for the results after the blood draws. The wait was agonizing and anxiety inducing. The cross-section of disorders they were testing for included fatal diseases and other less extreme afflictions. I stopped reading medical websites, the unknown was too much to deal with.
Bronwyn was diagnosed at 20 months with FOXG1 Syndrome. Only one of about 120 children and young adults sharing this diagnosis worldwide, Bronwyn will likely never walk, speak more than a few words, sit, stand, or eat orally. Most kids with FOXG1 also have frequent seizures. Fortunately, this is not the case with Bronwyn. Bronwyn has glasses to correct her strabismus, gets her nutrition through a g-tube, has a wheelchair stroller, and takes Miralax for chronic constipation, and Omeprazole for reflux. She is enrolled in a day habilitation center, paid for by Medicaid, where she goes daily with nurses on staff and professionals for weekly physical, occupational, and speech therapy.
With all of the negatives, it is worth highlighting the positives. Bronwyn’s smile is incredible and her laugh, well, sort of dorky and hilarious! She loves to snuggle, read books, watch Daniel Tiger’s Neighborhood, and just be around people, especially her Grandmas and cousins Keeley, Brinnan, Kanaan, and Madison.
Bronwyn was born August 18, 2011. Despite being on bedrest for six weeks before her birth due to high maternal blood pressure, the pregnancy was rather uneventful. Bronwyn was frank breech, therefore a C-section was necessary. No complications were experienced with her birth, other than needing oxygen for an hour or so after birth. Bronwyn passed all of her newborn tests with no concerns noted.
As a newborn, Bronwyn cried a lot, but it was chalked up to colic. Different formula was tried to help, only now do we know it was a FOXG1 trait. She also sounded like a honking goose when she breathed as she slept, a stridor. Several scopes were done, but no cause was found and it subsided as she grew. These would be the first of many medical tests needed to solve the mystery that was Bronwyn.
As first time parents, we did not notice any issues with our baby’s development until she was four months old. Our niece, Madison, born 18 days after Bronwyn, was nearly sitting on her own by Christmas that year, where Bronwyn would just flop over to one side when put in a sitting position. By six months old, Bronwyn’s pediatrician was noting the delays and Bronwyn’s head circumference growth also was lagging behind on the charts. The pediatrician put us in contact with the local Area Education Association for physical and occupational therapy intervention.
At nine months, the pediatrician was concerned enough by the definite delays to order a panel of chromosomal genetic testing. She also made an appointment for us with a geneticist for further testing. That initial panel of tests came back normal. We were unable to get in with the geneticist until Bronwyn was 15 months old. After visiting the geneticist, the waiting game began – waiting for insurance approval for the tests, then waiting for the results after the blood draws. The wait was agonizing and anxiety inducing. The cross-section of disorders they were testing for included fatal diseases and other less extreme afflictions. I stopped reading medical websites, the unknown was too much to deal with.
Bronwyn was diagnosed at 20 months with FOXG1 Syndrome. Only one of about 120 children and young adults sharing this diagnosis worldwide, Bronwyn will likely never walk, speak more than a few words, sit, stand, or eat orally. Most kids with FOXG1 also have frequent seizures. Fortunately, this is not the case with Bronwyn. Bronwyn has glasses to correct her strabismus, gets her nutrition through a g-tube, has a wheelchair stroller, and takes Miralax for chronic constipation, and Omeprazole for reflux. She is enrolled in a day habilitation center, paid for by Medicaid, where she goes daily with nurses on staff and professionals for weekly physical, occupational, and speech therapy.
With all of the negatives, it is worth highlighting the positives. Bronwyn’s smile is incredible and her laugh, well, sort of dorky and hilarious! She loves to snuggle, read books, watch Daniel Tiger’s Neighborhood, and just be around people, especially her Grandmas and cousins Keeley, Brinnan, Kanaan, and Madison.