Alaya was born a healthy full-term baby. A few days after being at home we noticed Alaya was having trouble feeding. She would tire easily and couldn’t hold a latch for more than a minute or so. We also noticed some seizure activity mainly when she was sleeping. Her pediatrician told us some babies just have different quirks. It wasn’t until she was 6 months old that we were finally heard. She had a seizure while we were out shopping and I had taken her to the ER. They sent us by ambulance to our nearest children’s hospital where she was diagnosed with epilepsy. They had also noticed her dystonia and small head circumference. They then encouraged us to do genetic testing. 6 months later around her first birthday, she was diagnosed with TUBB3. Shortly after we got our official diagnosis she was also diagnosed with CVI. Around her second birthday she had a G-tube placed due to losing her sucking reflex. She was taking around an hour to finish a bottle and losing too much weight. Ever since getting the G-tube she is thriving! She does physical, occupational, speech, and vision therapy every week. She also has an eye gaze she uses to communicate since she is non-verbal. She is unbelievably smart and very opinionated. Her laugh is rare but magical. She is so sweet and the strongest girl I know!
Do you have a family member diagnosed with a TUBB3 variant? You can help spread awareness and bring understanding to others by sharing your story.
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