The story of Samantha
TUBB2B Gene Mutation, Polymicrogyria, Agenesis of the Corpus Collossum, Dandy Walker Syndrome, Lennox Gaustaut Syndrome
At the 39 weeks pregnant I received news that my baby’s brain had fluid on it after a healthy pregnancy. We had to go to a a specialty hospital and I was induced a few days later. Desmond was born a fighter and spent 8 days in the NICU while they did test to try and find a diagnosis. Desmond’s MRI results were gone over with us and he was diagnosed with; Dandy Walker Syndrome, Hydrocephalus, Polymicrogyria, Agenesis of the Corpus Collossum, and abnormal configuration of the brain stem. We were referred to genetics to try and find a genetic cause for his brain malformations. He started have seizures on his second day of life, was having temperature disregulation, and difficulty eating.
after meeting with genetics Desmond had bloodwork done that revealed a genetic cause. Desmond had a TUBB2B gene mutation and that paired with the MRI results gave us an answer. They told us this was rare and that children with this gene mutation require lifelong care.
Desmond has to have his first surgery at 3 months old because the pressure from fluid was building up on his brain. The surgery was successful and he continued his fight. At five months old Desmond had to get a feeding tube because of failure to thrive and Dehydration due to not being able to eat enough. He started with an NG Tube and then had surgery for a G-Tube a month later. Around the same time Desmond started having Infantile Spasms and required another seizure medication. He started to finally gain weight with his feeding tube and we no longer had to worry about him struggling to eat by mouth.
Desmond constantly battles respiratory infections and seizures. He is now 21 months old and has a global developmental delay. Desmond has also been diagnosed with Lennox Gastaut Syndrome, reactive airway disease, cerebral palsy, mild hearing loss in one ear and a cortical visual impairment that has made him legally blind.
He has the most amazing smile and can brighten a room. He is so loved by his whole family that is there to support him through all the challenges he come across. He loves spending time with his 2 older siblings Lucien and Jada, Elmo, walks outside in his wheelchair, and using his Switch adapted toys. Desmond is still working hard at eating puréed food and his favorite is blueberries.