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Liam Alexander Hesse was diagnosed with Tublinopathy 3 (TUBB3) in utero on Rare Disease day, February 28th, 2022. TUBB3 stands for Tublin Beta 3, a protein responsible for mapping out neuron pathways in utero. The TUBB3 gene is located on the 16th chromosome. TUBB3 is an ultra-rare genetic syndrome with less than 200 patients diagnosed worldwide. A deletion or mutation in the TUBB3 gene (Liam had a deletion) can cause a spectrum of nervous system disorders. Most patients have ocular mobility disorders, epilepsy, cyclical vomiting syndrome, and intellectual and physical delays. TUBB3 has no treatment or cure. Liam lived in the NICU for 15 days before passing from severe seizures on TUBB3 Awareness day 3/16/22. For people who are more familiar with TUBB3, I would include that his specific deletion and insertion on chromosome 16 has never been recorded in any medical databases before. He passed because the deletion and insertion caused severe epilepsy and despite the university doctor's best efforts to stop his seizures (he was having over 100 per day), his little brain couldn't stop having seizures and he eventually passed ON TUBB3 Awareness day 3/16/22.
Do you have a family member diagnosed with TUBB3? You can help spread awareness and bring understanding to others by sharing your story.
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