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 many 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 did confirmation testing via Whole Exome Sequencing (WES). 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. This finally gave us a name, but still left so many questions. Our geneticist could not tell us anything about TUBB3 besides what was in the research paper, and about the only thing we knew was that there were only 3 other people in the entire world with her variant. We also found out with the Whole Exome Sequencing that Lani has a 2nd extremely rare genetic mutation of HUWE1. There was also very little information and answers on what that would mean. We wanted more answers, we wanted to connect with other families to learn from their experiences, we wanted to know what her future might look like. Shortly after receiving this diagnosis, Lani's mom, Heather, started a Facebook group to start finding other families and with the help of some other TUBB3 families, the TUBB3 Foundation came to life in 2017. This community has been so impactful for our family, to connect with other people, learn more about what things to look for, similarities that other individuals with TUBB3 might have, and just to know we aren't alone. Lani has continued to progress very well over the years and is now a Junior in high school. She enjoys art, robotics and participating in plays. She communicates with ASL, is doing great at school, is working a part-time job and currently studying to get her driver's license. She was inducted into her school's National Honor Society last year and is always working to push herself further. Despite the many years of constant hospitalizations, several surgeries and ongoing therapies, she is truly thriving as a teenager. She is incredibly happy, outgoing, and funny and is always the first person to help others. Her laugh is contagious and her positivity in life keeps everyone around her going. Her goals are to attend Gallaudet University in Washington D.C. after high school to become an elementary teacher. We have no doubt she will accomplish whatever she sets her mind to, she always has!
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