Kimberley Earrey is an affectionate 7-year-old, who currently attends mainstream school and has just learned to swim. Diagnosed with TSC as a baby, prolonged seizures, many lasting up to two hours at a time, dominated the first four years of Kimberley’s life.
Born ten weeks premature, Kimberley made good progress until just before her first birthday when she had her first seizure.
‘We’d gone to a friend’s barbecue,’ says Nina, ‘and when we came home Kimberley was a little grouchy, but I just thought she was tired and so put her to bed.’
But it wasn’t long before unusual sounds from the baby monitor alerted Nina and husband Scott that all was not well with their baby daughter.
‘Kimberley was breathing quite fast,’ remembers Nina, ‘ so we went up to check on her and straight away we could see that her eyes were rolled back, her right arm was twitching and then her whole right side started to twitch. It was so scary as we didn’t know what was happening to her and we called an ambulance straight away.’
Rushed to hospital, Kimberley was put on antibiotics, as by then her temperature was shooting up.
‘They did some tests’ says Nina, who works for the Environment Agency, ‘and then they dropped a double bombshell. The doctors told us that Kimberley had bacterial meningitis, which was scary enough.
‘But then the consultant went on to tell us that they had noticed some patches on her brain, so they had done some further tests and there was a strong possibility that Kimberley had this rare genetic condition called Tuberous Sclerosis Complex.
‘It was so much to take in, and looking back, we were very much just left hanging. When Kimberley was first diagnosed we could definitely have done with a lot more support from healthcare professionals both in terms of information, and, emotional support.
‘There was no follow up with them after they gave their diagnosis. That was it. We were stunned, and had so many questions. It was a very hard time in our lives.’
Kimberley went on to make a complete recovery from meningitis, but further tests followed and it was not longer before a diagnosis of TS was confirmed.
Kimberley, Nina and dad Scott, then spent the next few years ‘in and out of hospital’ as Kimberley had seizure after seizure, many horribly prolonged and on three occasions she required intensive care at GOSH and Addenbrookes Hospital.
‘We found, after a while, that if Kimberley had any sort of infection – like a cough or cold – that would seem to trigger her epilepsy,’ says Nina. ‘As a little one she did enjoy her time at nursery, and you want your child to go and have as normal a life as possible. But of course, when they go to nursery they all pick up every germ going, so we were constantly worried. Then you’d find she’d go for six months without a seizure, and you would think that some progress was being made, and then – bang! – she’d have another one.’
When Kimberley was in Year 1, Nina asked for additional support for her daughter, and now has an Educational Health Care Plan (EHCP) in place. The older she gets the more Kimberley struggles to cope academically. Nina and Scott are currently in discussions with her teachers about her future and a possible move to a specialist school.
‘Kimberley struggles to concentrate, keep focused and is easily confused,’ says Nina, ‘and tends to be very quiet at school and show no emotions. Whereas at home, she lets it all out.’
Nina, whose other child, Benjamin, does not have TSC, says that the unrelenting uncertainty of epilepsy, and, the huge impact that it has on normal family life, make it very hard to deal with at times.
‘It’s so hard,’ says Nina. ‘We’ve been to hospital with Kimberley so many times. And it is emotionally draining. I remember Kimberley having another huge seizure on New Year’s Eve when she was two. We had to leave Benjamin with grandparents and he just looked so sad when we told him that we had to go to hospital with Kimberley again, and that we did not know how long for.’
After realising that she was struggling to cope with all the demands of normal family life, dealing with TSC, and returning to work after maternity leave, Nina says she benefitted from a period of counselling made available to her through a workplace scheme.
‘The counselling was useful at the time,’ says Nina, ‘it helped me to deal with my anxiety.’
Now on Keppra, Kimberley has not had a seizure for three years. ‘I never thought they’d get her epilepsy under control,’ says Nina.
‘Things are better now. But with TSC you can’t get away from it and it’s such an unpredictable condition that you don’t know what’s around the corner.
‘Even though it’s been three years now since Kimberley has had a seizure, every time she has a cough or a cold, it’s always at the back of my mind, is she going to have another fit?
‘And as Kimberley has a SEGA in her brain, and AMLs, and every time you go for a scan you are just waiting for those results.
‘Day to day Kimberley is so tired, and it affects her emotionally too as she is now beginning to understand the difference between herself and her friends who don’t have TSC. On the positive side of things, she has not had a seizure for 3 years, and is doing things now that in the early days I never dreamed she would be able to do. She’s going to school, she is making progress even if she is behind some of the other children, and she’s doing so well with her swimming - all of this is so positive.
‘So to any parents with newly diagnosed children out there I would say ask for help, every time. Kendra, our TSA Adviser, has been amazing for us as a family, so many times. She went to Kimberley’s school to give them a talk on TSC and that helped so much. And the Mums and Dads Facebook group is also brilliant. Through that you can talk to other families many of whom are going through similar things – if anything, it just helps to let off a little steam every now and then.
‘But to anyone with a new diagnosis I would say try, as much as possible, to take it all day by day as TS in such an unpredictable condition, you just do not know what it around the corner. Take each day as it comes.
‘And don’t be alone - don’t try to take it all on your shoulders.
‘After a new diagnosis you are left with so many questions. Don’t Google TSC because what you will find is just too scary and I now know that everyone is different so what happens to one person may be very different from what happens for your child.
‘Try to get as much support as you can from your local hospital and from the TSA too. Looking back, in the first few years of Kimberley’s diagnosis, we didn't do this as much as we could have done, but all you have to do is pick up the phone and give your TSA Adviser a call.
‘And try to keep positive. I’ve done a sponsored Zumbathon, and Scott has done the Ipswich Marathon and the Great North Run for the TSA. And get your friends involved as well. There is another parent who has a son with TS in the organisation for whom I work and we have become good friends thanks to TSC. It all helps.’