OUR STORIES

My daughter Ellie started seizuring at 9 months of age and we were in hospital for two weeks, with Ellie seizuring between 20-30 times a day. We did not know what or why at this point. We were given many medications to try and control seizures. Development delay was noticeable when Ellie was 3 and attended mainstream nursery.

 

 Fast forward a year Ellie turned 4 and we received a call from her consultant who mentioned Ellie may have PCDH19 Ellie got tested and she was positive. Myself and Ellies father got tested and the results were I was positive and Ellies father was negative. I was told I was an unaffected carrier which makes me more rare than Ellie is here in the UK. This made me think which side of my family could this be on if any as I'm aware it can start in just the one person and may not go back through family. 

 

I have an aunty on my mams side (my mams sister) who has Epilepsy for life. On my dads side there is more Epilepsy. My Mam and Dad both got tested after myself and Ellie and it turns out my Dad is positive for PCDH19 and is an unaffected carrier like myself.  My Nana and my Aunty (my dads mother and sister) both had seizures as a child. My cousins daughter has had seizures as a child but now has outgrown the seizures but recently been diagnosed with PCDH19 along with her mam (my cousin). My cousin however is an unaffected carrier like me and her eldest son has been tested negative. So its skipped me and my cousin but our daughters are affected by PCDH19. My male cousin who is the uncle to my cousins daughter who is affected got tested and he is also positive and an unaffected carrier. He has a daughter down south who at 9 months old started seizuring  and just been diagnosed with PCDH19. 

 

That's our story so far. We do have more girls in the family however no one else has been tested with them not having any affected signs of PCDH19. The behaviour challenges is what we are struggling with the most with Ellie now on Aripiprazole from her psychiatrist. Just recently started so not seen any improvement as of yet.