Cassie was born full term with an uneventful delivery. She checked all the boxes as healthy and we headed home. She struggled with gaining weight and moderate eczema the first few months and was diagnosed with dairy, soy and corn intolerance that seemed to resolve when we found the right formula. About 3 months old I noticed she was "seeing" the world differently, head and eye position were not like any other baby I had been around. At her 4 month check up the Dr was unconcerned and just grateful she was gaining weight and content, they said they would check her eyes at 6 months if we were still concerned. In the meantime Cassie met every milestone. At the 6 month check up she was not tracking objects completely and was referred to an ophthalmologist. Within a week her glasses were ordered for severe farsightedness, began patching for Brown's syndrome and was diagnosed with bilateral Duane's syndrome. She continued to meet all milestones, but even with glasses had a unique head and eye position. She had an unsuccessful eye muscle manipulation on her right eye right after her first birthday and was cleared by neurology after an MRI. We were told her brain would begin compensating for her unique vision but not to worry if it took her a little longer. She was walking, talking and learning. At her 2 year old check up we mentioned how Cassie wouldn't jump with 2 feet or climb. She didn't enjoy parks or gymnastics like other kids. They referred us to "help me grow" but said Cassie likely lacked 3D vision and her brain needed more time. "Help me grow" assessed her shortly before Covid and referred her to vision therapy but considered her developmentally appropriate and graduated her. Virtual vision therapy was not helpful for a 2 year old,of course and Cassie aged out at 3 before in-person returned. At her 3 year appointment, we again brought up our concerns with her lack of jumping, Climbing and obvious struggles with stairs, curbs, etc and were referred to neurology again. 2 days after Cassie's 3rd birthday she had her first long eeg (almost 90 minutes) and we were told she had epilepsy but that they weren't sure the type or severity and would get her admitted for longer testing within a couple weeks. She stayed 5 days on VEEG, had another MRI, lots of bloodwork and her first genetic test was sent out. We were told she was miraculously typically developing despite an over active eeg in her occipital lobe. She just needed time to catch up for vision related milestones. We pushed for her to get a PT evaluation and began PT therapy about 3.5 years old. Cassie was still thriving verbally and cognitively so the doctors weren't overly concerned. After self led research she went to see a pediatric neuro-ophthalmologist. He was the first to ever mention Cassie's mild ataxia. We brought this up to her epilepsy neurologist and was blown off again. We requested to see a different epilepsy neurologist we had met during her 2nd and 3rd hospital stay. He referred us to a geneticist for further testing. Over the next 18 months Cassie went through many blood tests, lumbar puncture, multiple genetics tests including whole genome sequence (WGS). She is the only known pathogenic in-frame deletion of the TUBB3 gene. At 8.5 years old Cassie is on 12 different daily medications plus 3 as needed for seizure activity. She is in OT and PT. She has spent more than 40 nights admitted on VEEG monitoring and has a team of 14 specialists split between Cleveland Clinic and Cincinnati Children's. We recently added an orthodontist to the team to address her small palate, severe overbite, and overcrowding as her adult teeth come in and will hopefully help with her moderate sleep apnea. She now struggles with mild ataxia, coordination, motor planning and inattentive ADHD with autistic tendencies on top of her multi-focal (occipital and parietal) intractable epilepsy, cerebral nystagmus, high functioning CVI and bilateral Duane's syndrome. She recently achieved daytime bladder control but still struggles with incontinence at night. She is an avid reader (well above grade level) but struggles with math. She runs, jumps, climbs and even did cheerleading, volleyball and dance just not as fast or as gracefully as her peers. She never gives up and handles everything with so much optimism. To know her is to love her.
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