Azrael's
Story

Azrael’s story started during a normal 6 month ultrasound scan. The findings concluded ventriculomegaly, therefore I was referred to a high risk specialist. During the ultrasound scan at the high risk specialist he was very active, resulting in an inconclusive image of his brain, therefore I was sent for an MRI. The findings were concurrent with the findings of possibly having a tubulinopathy genetic mutation. In order to properly diagnose and find the problem they performed a gene sequencing test via amniocentesis, which further found he had a TUBB3 mutation (de novo) with a variant that no one else in the database had. He was born at 36 weeks, with a full team of specialists ready to receive him. He was sent to the NICU for 2 days for observations and was under the care of a neurologist, geneticist, and his pediatrician. He had an MRI and an EEG done after delivery and although the MRI showed many brain malformations, he had no signs of seizures. After a month of birth, he was referred to ophthalmology because he would only open his eyes 1/4 open. His diagnoses include Cortical dysgenesis with pontocerebellar hypoplasia, ptosis, CFEOM, alternating exotropia, hypotropia, and hypotonia. He has been diagnosed in the past year with failure to thrive, feeding disorder, and myoclonic seizures (controlled with medications). He has had plastic eye surgery, recessive eye ,muscle surgery, and ear tube surgery and continues to thrive. His major difficulty is the low muscle tone, especially in his torso. He is great at tracking things and finding ways to see regardless of his visual impairments. He has worked hard during therapy to achieve his goals. Although he may face many challenges at last he has overcome a few and shown progress resulting from his therapies. He just turned 2, and can now sit (still under supervision), he can transition from laying down to sitting position, he can roll from back to belly, army crawls, and can clap toys together. He eats only purees or super soft foods and has a long road ahead of him but he shows resilience, dedication, hard work, determination, and continues to pour his all into every activity he performs. Regardless of how hard a task may be for him, you will always see him smiling and giggling.