Cali’s Chromosomes

This beautiful little girl is my niece. She was born Jan 4th, 2018 and completed my sisters family of 6. Her name is Cali.  When she was born, she failed her newborn hearing screen.  Then she failed the follow-up screen and was referred to a neonatal audiologist and was found to have hearing loss in one ear. The audiologist  told Kristen she should take her to get her eyes checked because hearing loss and vision problems go hand in hand. She was found to have significant vision problems as well. The ophthalmologist suggested they get some genetic testing done.  One year later, many tests including EEG for seizure like activity, MRI, abdominal  xrays for bowel issues and blood test after blood test, they are not any closer to a conclusive diagnosis. The last specialist they took her to at Kennedy Krieger could not give them a definitive diagnosis without a full workup genetic study which will cost Kristen and her family about $3500 out of pocket. Kristen has missed work and they are in the process of selling their house to “downsize” a bit to save money.  Cali has microcephaly (small head circumference) she is developmentally at 5 months. She is in physical therapy and works so hard!  A definitive diagnosis would help with planning and give Kristen and Jamie just a little piece of mind knowing how to move forward treatment. Please help where you can so Kristen and Jamie can have a better understanding of sweet Cali girl.