Aubryn is a very happy go lucky 13 year old that was recently diagnosed with Idiopathic Generalized Intractable Epilepsy. She was born health with no problems of anything. Once she turned 3 and started preschool, she became very hyper and was distracted very easily. Other than that, everything seemed to be fine. Then she got to where she needed to be put on medication to go to school.
A few months into her first grade year she really started having difficulty learning and retaining information. Finally, after being retained in the first grade for a second year, with help from her teacher, the school had her tested. They found that she had some type of problem, but we’re not able to pin point anything.
As time went on she seemed to not be progressing, her brain seems to have stopped at the age of a 5-6 year old. Through the years her IQ has dropped drastically and then more medical problems began. She has been diagnosed with intellectual disability. At the age of nine she started having Tonic-clonic seizures. She continues to have seizures. She also has scoliosis with wedging in the neck and narrowing in the lower spine. She has had intense genetic testing done. A few mutated genes were found, but nothing that was found matching with anything that is actually going on with her.
She is an active member of Texas Children’s Hospital Genetics Research. Hoping one day we may get some answers. We spend a lot of time in Houston at Texas Children’s Hospital. Hopefully one day we will get some type of answer. Aubryn may be able to be apart of helping others get a diagnosis. Thank you for hearing our story!