BRIANA
This is Briana. Briana is a 15-year-old girl who lives in WY, USA with her parents and her older sister. Briana loves Minnie Mouse, Cop shows and spinning toys. Briana is 100% reliable on her family for all her care and she is nonverbal. Briana started walking when she was 5. Briana has only had one documented incident of seizures when she was 8. She had 9 seizures in a 6-hour period and was life flighted to a nearby children’s hospital where she was in NICU for 4 days. She currently has been on seizure medicine for 7 years.
Briana was 6 months old when her parents realized she wasn’t meeting milestones. At that time her doctors said she was developmentally delayed. On top of that Briana also had microcephaly, strabismus, nystagmus, and failure to thrive. Briana also suffered from a movement disorder, and she was very unsteady with her gait which caused several falls, several trips to the ER for stitches and eventually plastic surgery to fix the area where she always split open. Years and years of different tests and genetic tests the doctors couldn’t find what made her so special. Fast forward to the age 12. Years after numerous genetic tests. The genetic tests finally expanded, and they were able to finally diagnosis Briana at the age of 12 of having GABRB2 genetic mutation.
As much as that was a relief to her family it hit them with the “what now?” Since this currently has no treatment or diagnosis her family is still unknown and unsure of the future and what it holds for Briana. Briana seems to be milder compared to other children, but that doesn't make her life much easier or easier for her family.
Please considering donating and helping us find a cure for Briana and all her other GABRB2 brothers and sisters!