Warrior of the Week

This week we bring you cheeky Jorgie as told by Mum Samia .

This is my little Jorgie, she’s a 5 year old bundle of pure love and energy and she is also Queen bee in our household and totally rules the roost.

Around October time of 2012 she started doing these really random moves, like she was pretending to be Superman and we would really giggle at her, thinking she had picked up this quirky little habit. After a few weeks we noticed that she was doing it more often and that they were distressing her a little, she was miserable ( I put it down to teething blissfully unaware anything could be wrong, I already had Evie and Poppy so was a dab hand at parenting right ? ) Steve’s Mum was visiting us from Leigh and as a nurse she said “That’s not right“ so we took her to casualty. Reflux was thrown about as a possible cause and we were sent home and advised to call GP in the morning.

The next morning I took her to nursery, went to work and called the Dr’s from my office, explained her random movements and the Dr said, “it could be something called West Syndrome, can you take her to Musgrove for an EEG ?”,  she also recommended we try and capture it on video if we could. My boss overheard and just told us to go and take whatever time we needed. I had never heard of it, but panic set in and we went to collect her from Nursery and took her to Hospital. En Route she had a cluster which we pulled in to a layby and caught. These Clusters now took on a whole new meaning.

We spent the next 10hrs on the ward whilst she had an EEG and various Drs and nurses came in and out to view the video as they had never heard of it, we felt completely in limbo with only Google to look at. We received a diagnosis of Infantile Spasms, it was a Friday night and the specialist they wanted to discuss it was not back home until the Monday, so we were sent home with a booklet ( Quarriers) asked to consider Jorgie joining a study and advised to stay away from Google.

We went home that weekend, the Spasms intensified and read the Quarriers leaflet, the only thing that stuck out and still does is the statistics in the last page that 1 in 20 children would not make it past 2 years old . It destroyed me, at the time the best we could hope for was she would survive but would have brain damage. We discussed at length joining the study, where she would have been given a combination of meds to see how she responded . We chose not to do this , we felt wrongly that we didn’t want her used as an experiment, we just wanted it treated. Thankfully treatments and research has changed and outcomes are significantly better since the publication of this booklet.

We were armed with lots of Information by the hospital on what meds were available,what they would try first and given the side effects. Prednisolone was our starting drug and she ballooned on this, Pred did not work ( twice !)  and we were given the option of Toprimate, Keppra or Vigabatrin. We refused Vigabtrin because we totally misinterpreted the side effects and over the months we continued to refuse it, trying every option first with nothing working, some meds making the spasms worse. It wasn’t until we were asked outright , do you want to save the sight or the brain, I don’t think I’ve ever felt so awful. That day we started Vigabatrin combined with Keppra. We had 4 long years of hospital stays, trialling meds, EEGs, MRI’S, Lumbar puncture and 100s of appointments. The resilience of these children never ceases to amaze me.

From the day of diagnosis Jorgie’s nursery were amazing, they gave her meds, timed spasms, kept her epilepsy diary up to date whilst she was there, had training how to administer emergency meds and sourced one to one funding to help her with her development. Infantile Spasms robbed her of so much time and she was drastically behind. I will never be able to thank them enough.

Infantile Spasms when caught early and successfully treated and managed can have amazing outcomes. I’m not sure we will ever be able to forgive ourselves for not picking it up sooner, refusing treatments that could have helped her. Jorgie is not where she should be developmentally but she is certainly doing her utmost to get there. It’s a postcode lottery with additional facilities and we were lucky to be able to access Portage ( we loved Vicky our Portage worker ) Speech and Language and we still have Physio now, without these we would be in a very different place now.

At the time of Jorgie’s diagnosis , I had to really search in terms of support networks, there was a worldwide group with lots of amazing knowledgeable parents from all over the world, but nothing UK based. I am proud to be a part of the only UK based support group for parents and carers and now also our Charity UKIST, which we registered in March 2017. I hold my UKIST team and their babies very close to my heart and all of the babies and children in our support group who have fought and are still fighting, I know all of their names an yearn for the very best for each and every one of them. If I can support and help just one family I am happy. Our mission is to raise awareness of this so often mis-diagnosed condition, make people aware that is so much more than “Just Epilepsy” and support everyone we can.

Jorgie is now in Year 1, she’s still on the special education needs register, but I genuinely don’t feel that will be for ever. I would be lying if I said at times I didn’t cry and wonder how things could have been, it’s hard at times to not compare and try and find blame , but I wouldn’t change her for the world.  She lights up the room, makes people smile and everyone she meets genuinely fall in love with her.


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