In Lieu of gifts for my birthday I have asked my family to donate to the STXBP1 Foundation and would also like to extend that request to any friends who would be willing to make a donation in honor of Otis to fund research into his rare genetic condition.

STXBP1 is a genetic condition where a mutation in the gene interferes with communication between brain cells. For Otis this has caused 2 types of difficult to control seizures since he was 6 weeks old, developmental delay and hypotonia (low muscle tone).  

Otis has had a very difficult start to life, at the worst point he was having around 20 seizures a day, each cluster made him cry, he was exhausted and barely able to stay awake for feeds between each seizure. He spent a week in Hospital to diagnose the cause of his epilepsy where he had to have a lumbar puncture, MRI, multiple EEGS,, and multiple blood tests. He has had to take a course of steroids and is now on 2 medicines and the ketogenic diet to control his seizures. 

Otis' developmental delay and hypotonia means we do physio with him everyday to help him achieve milestones other babies would have reached naturally and will likely continue to need physiotherapy, occupational therapy and speech and language therapy throughout his childhood. 

Despite all of this when Otis is seizure free he is so happy, cheeky and chilled out. The day we first got seizure control he smiled for the first time. When he had a relapse he continued to make progression in his physiotherapy despite his seizures. He is so strong and continues to persevere to learn new skills, to smile and laugh and bring those who know him so much joy. We are so, so proud of what he has achieved so far despite everything he has been through. 

Due to this being a rare genetic condition (1 in 30:000) there is no cure at this time, but there is research currently going on and recently the STXBP1 foundation has donated $75,000 to a team investigating a therapy for STXBP1 giving hope that one day there will be a cure. 

Please if you can, donate to STXBP1 Foundation in honour of our little fighter Otis and help fund research for a cure. 

Thank you,

Christie xx