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Lani was born via traumatic delivery and went straight to the NICU. There were no known complications during pregnancy, but while in the NICU she failed her newborn hearing screening and we found out she was profoundly deaf, we noticed she had a droopy eyelid, and she received an MRI of her brain which showed multiple brain abnormalities. She was sent home and continued to miss every milestone. She developed a large list of symptoms and different diagnoses but none that accounted for everything. She was referred to a Neuro-Ophthalmologist for a second opinion on her vision. This doctor enrolled Lani in a research study of rare eye disorders at Boston Children’s Hospital shortly after her 1st birthday. She acquired other diagnoses as she grew including cyclic vomiting syndrome, diabetes insipidus, hypotonia, cerebral palsy, autonomic dysfunction, scoliosis and global developmental delays. Lani started sitting up around 14 months old and with the help of numerous therapies she started walking independently at age 3. We saw Lani’s Geneticist every year ordering more tests and trying to find an answer for all of her symptoms but nothing ever came back. Lani was 6 ½ years old when we finally heard back from the research study at Boston Children’s Hospital she was enrolled in. From this study we learned Lani has a TUBB3 mutation, G71R variant. They also were finally able to put a name to her vision issues, she has CFEOM3 which is a part of her TUBB3 mutation which also accounts for her brain abnormalities. Lani has continued to progress very well over the years and is now 13 years old. She enjoys cheerleading, baseball, Miss Amazing Pageants, dance classes and participating in plays in our local theater. She communicates with ASL and is doing great at school. As she has grown her body is not able to keep up as much and she does use a wheelchair for longer distances every day. She is incredibly happy, outgoing, and funny and is always the first person to help others.
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