Justin & Romina talk to us about Aaliyah's story.
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- Опубликовано: 31 янв 2025
- Aaliyah was diagnosed with SCN2A just before her first birthday.
Aaliyah had her first seizure when she was only 10 hours old. She was very slow to develop and hit many of her milestones. She smiled and was able to hold her neck intermittently, occasionally she would babble. She was able to eat orally and always enjoyed her food.
Sadly, Aaliyah passed away in her sleep aged 22months.
The mortality rate in SCN2A is unknown but is seen to be higher in gain of function presentations.