Kinley's
Story

During a routine ultrasound at 20 weeks gestation the ultrasound tech noticed that Kinley’s brain appeared “abnormal”. We were referred to a specialist and they informed us that it was possibly hydrocephalus, due to unknown causes. For the remainder of the pregnancy we kept a close eye on Kinley’s growth by visiting the specialist every week. There were no changes during the pregnancy and when Kinley was born towards the end of 2012, she appeared to be happy and healthy. Doctors involved in her care ordered a brain MRI to be done at 2 days old. The MRI showed abnormal brain formation, but provided no real answers. Kinley was physically and intellectually delayed in all of her milestones and started therapy through early childhood intervention at 6 months old. Eventually, she was given the diagnosis of “global developmental delay” by her pediatrician. Frustrated with not having answers as to why Kinley was delayed in milestones and her brain appearing abnormal, we sought care at Scottish Rite Hospital in Dallas. There, a pediatric neurologist diagnosed Kinley with Cerebral Palsy. Not seemingly having the full picture, we sought out genetic testing. After doing two types of genetic tests and yielding no results, searching for answers was put on pause. My mother instinct and professional nursing background keep leading me back to Kinley’s struggles being tied into genetics. Finally, I begged for Whole Exome Sequence testing. I had convinced myself for the past 4 years that she had a different rare genetic syndrome. WES testing finally yielded the TUBB3 results when Kinley was 6.5 years old. Although Kinley’s milestones were delayed, she eventually learned to walk at age 2. She has cognitive, physical and social delays but has progressed so much over the years. She receives speech, physical therapy, occupational therapy and social work services through her school. She is supported in both a general education and special education classroom and is assisted by teachers’ aides for most of her day. Despite her struggles she is a happy and generally healthy girl. She loves participating in our local Special Olympics team for gymnastics and bowling. She plays baseball in the Tom Jones Challenger League, a local organization for individuals with special needs. She also enjoys Girl Scouts, traveling, animals and anything thrilling.