Sophie & Joseph
Sophie was born in 2013. She had feeding and sleeping difficulties from birth. She was a ‘difficult’ baby but we didn’t know anything was seriously wrong until she started having seizures at 9 weeks old.
She was in hospital for most of the next 6 months. It took 3 months before her epilepsy was diagnosed as it wasn’t showing on EEGs and they didn’t know what was wrong with her as her seizures were so many and varied and often not ‘typical’.
Despite many medications, ketogenic diet and vns surgery, sadly we have never managed to achieve seizure control for Sophie. Sophie also suffers from severe scoliosis, gastrointestinal reflux, cortical visual impairment and profound and multiple learning difficulties. She is a true fighter! She battles every day but still manages to give us hundreds of kisses and cuddles each day. She is full of love for her family. She is also a dare devil who loves big movements and likes to be upside down or swinging around!
After 4 years of genetic testing, no cause was found for Sophie’s condition and it was assumed that it was a de novo (one off) mutation so we were reassured to try for a second child.
Joseph was born in 2018. In contrast to Sophie, Joseph fed and slept well from birth.
We were devastated when, at 7 weeks old, he started to have seizures. It became clear very quickly that Joseph had the same unknown condition as his sister. He spent 7 weeks in hospital trying to get seizure control. We achieved brief seizure control however, like Sophie, Joseph no longer has seizure control. He also has profound and multiple learning difficulties and many complex needs like his sister. Joseph is our smiley, happy boy. He loves bouncing and listening to singing and music. He also loves a cuddle!
When Joseph was in hospital, we were told that there had been an update to one of the genetic tests taken with Sophie. This update found the WWOX gene mutation and gave us an explanation. It also allowed us to make contact with other families with the same condition which has helped immensely.