We noticed something off about Rykers eyes when he was a newborn. The doctors made us wait until he was 6 months old before they referred him to sickkids for it. Unfortunately for us Covid hit in march of 2020 and Ryker was then set to wait. They decided to send him for an MRI to shut us up. March 8th 2021, i was pulled into the room and informed Ryker has a large arachnoid cyst behind one of his eyes. This led to further investigation where they discovered his TUBB-3 mutation. He has CFEOM, congenital fibrosis of the extra ocular muscles. He also has muscle deterioration in his legs and wrists. From there we got test results that he had global developmental delays. Ryker didn't walk until he was almost 3. His speech didn't come till right before 4 years old. He still doesn't have the best speech, and he can't run. He can barely lift his feet up when he walks. He is also such a bright young boy, video games being his favorite thing to do and he is good at them. He started school this year in a special program for autistic children because his disability is so unique he fits right in with his peers. He is the only one with his diagnosis anywhere near us and his doctors struggle daily to figure stuff out. Through all this he is such a happy quiet individual and he is such a joy to have. He continues to see specialists to this day as every day brings a new health issue for him.
Do you have a family member diagnosed with a TUBB3 variant? You can help spread awareness and bring understanding to others by sharing your story.
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