Sophie was born in 2017, and when she was only 4 months old, she started having seizures. Up until then we didn’t know anything was wrong.
The frequency and severity of her seizures increased over the next 18 months and we were in and out of hospital as doctors looked to bring the seizures under control.
At 11 months old she was diagnosed with Infantile Spasms / West Syndrome.
She also was very unwell with a nasty strain of the Enterovirus (D68), and she spent several weeks in isolation, barely able to move.
While the medical team were looking for a cause for Sophie’s condition, she was put onto courses of numerous anti-epileptic drugs including Keppra, Carbamazepine, Topiramate, Clobazam, Vigabatrin and Zonisamide, along with a course of steroids to fight the enterovirus.
There were also several EEG tests and MRI scans performed on her.
This was an especially difficult period for us all as a family, not only having to cope with the distress of seeing Sophie being so ill, but also having no idea of what was causing it and no hope of any improvement in her.
At almost two years old, Sophie successfully underwent surgery to have a VNS implant fitted, which we believe provided some seizure control.
Relatively early on in the process, Sophie undertook genetic testing, but it took until just before her 3rd birthday for us to receive notification that two WWOX mutations had been identified. This is how we came to learn about the WWOX Foundation, and reading the stories of other children and families made us feel that we are not alone in this battle. It has also given us hope for the future, which was lacking during those long stays in hospital.
The impact on Sophie’s development has been severe. At three years of age, most of her development indicators are in the three month to nine month range: practically, this means she is unable to sit up unaided, crawl, feed herself or communicate with us.
We have independently been seeing a brain injury specialist, who has worked with many children who have experienced developmental delay. He provides us with a program of exercises to stimulate different areas of the brain and muscles. Although early days, we have seen some small positive steps forward, although progress is very slow.
Sophie’s last stay in hospital was around six months ago, when here doctors reintroduced clobazam along with zonisamide. This combination of medicines (along with the VNS) seems to be working well both in terms of seizure control and her general wellbeing.
Sophie appears to be a happy child and is starting to babble, and there are signs that she is staring to recognise certain people including mummy and daddy.
She enjoys attending nursery, although her condition means she is still in the baby room and we are sure she loves her big brother Edward, who is always on hand to look out for her!