Our June warrior Sariyah – defying the odds

Sariyah Jai is our Warrior Princess. She is beautiful, smart and has the most infectious smile that lights up any room. She cheeky, has a mischievous side and gives the best kisses ever. We recently celebrated her 6th Birthday with a garden party that she was able to enjoy with her family and friends.

We first took Sariyah to see the GP at the end of August 2018 at around 3 months of age after she started to have clusters of movements associated with periods of being unsettled. We were initially diagnosed with colic and treated for constipation. Over the next week we re-presented to the GP 5 times, each time seeing a different clinician. The final time we went to the GP before making the decision to attend A&E we were told that her presentation was most likely infantile spasms and an urgent referral had been made to paediatric neurology team. We were advised that this was nothing to worry about and we should monitor her and take her to A&E if we were concerned. That night we recorded more than 50 episodes of cluster seizures. The following morning, we decided to take her to the hospital unaware of what the next few weeks had in store. Provisional tests indicated Infantile Spasm with further investigations confirming a diagnosis of West Syndrome.

Overnight it felt as though we were rapidly loosing our daughter and the fear of the future started to take over. I will never forget the day we were discharged from hospital. Scared and unsure what the future had in store. The world felt scary and the thought of facing a future of unknowns was overwhelming. On the day of discharge of the doctors signposted me to the UKIST Facebook group, so that night we joined and wrote our first post. Since then the UKIST community has become a part of our lives, extended family always there to offer advise and support.

Following on from discharge, genetic testing was able to provide us with a primary diagnosis of STXBP1, a spontaneous mutation of the 9th chromosome. We are still navigating our way through this diagnosis, of which our greatest teacher is Sariyah.

Throughout her journey Sariyah has continued to defy the odds and push through anything she is faced with. Her strength and determination is inspirational and empowering. Sariyah has gone from sitting to crawling to high kneeling in a short period of time and works so hard with her OT and physio team daily. We were told she may never sit so seeing her reach these milestones gives us the strength to continue pushing her each and every day. Our Warrior Princess is a daily reminder that the only limitation is in thinking and with determination, hard work and desire you can really never say never.