Hi my name is Rachel and I am mum to the most wonderful daughter called Jessie. We live in Derbyshire with dad Daniel and big brother Thomas. Jessie was born in 2006 - she is so brave and beautiful, and her life has been interesting to say the least.
Jessie was born at a healthy 8lb 11ozs with no complications, she developed well hitting all her milestones, she walked at 10 months and all was on track. When she was 10 months and 2 weeks she had a febrile convulsion. This was scary to see but we didn’t panic too much as our son Thomas had one at 18 months, so after a quick check-up we went home. Two weeks later she did it again but this time it wouldn’t stop and, after a blue light ride to the hospital and many drugs, she had to be intubated.
Obviously the doctors started doing the usual tests, MRI, EEG, etc. These all came back clear. After the second seizure we had a very experienced consultant who first told us the words “Dravet Syndrome”. In 2006, we had a blood test sent to Glasgow for genetic testing. The test came back negative for Dravet Syndrome, or so we thought.
It turned out, however, that there was a mix up and her blood was never tested. So in 2010, four years later, she was tested again and, guess what, POSITIVE!! It was at this point I sought out Dravet Syndrome UK who funded a pulse oximeter, which has helped us immensely, especially with her respiratory arrest habits.
In the four years prior to the diagnosis, our doctor had continued to treat her for Dravet Syndrome, adding more meds to improve seizure control. Some medications worked for Jessie, but with others the side effects were too much. Eventually, the right combination was found. She still had seizures with temperatures and illness, 2-3 tonic clonics/complex partials a month, and absences were a daily occurrence, but this was fabulous compared to previous years.
Over the following years, Jess developed other problems including ataxia, hypermobility and ASD to name a few. Her appetite all but disappeared, due to meds. After some careful thought we decided her quality of life would be much better with a gastrostomy (a procedure that allows Jessie to be tube-fed). We were proved right. She steadily put on weight, and became lot stronger and more lively.
We also transferred her over to a special needs school, as her mainstream school were struggling to meet her needs. This again proved to be a good decision although it was a very difficult one. Thankfully she settled in brilliantly.
Then, in 2014, we hit a rough patch. Jessie's seizures started to get a lot more frequent and worse, and no matter how much the doctors upped the meds it made no difference. We reached the top dose of everything! The doctors said we had two options. One option was implanting a VNS (Vagus Nerve Stimulator) device (an implant that used to treat seizures when seizure drugs are not effective and surgery is not possible). The other was the Ketogenic diet. Seeing as Jessie was already tube fed, this seemed the easiest route.
So we went back to the doctors, who the turned round and said “we can’t fund the Keto diet for at least a year.” We were gobsmacked, what on earth could we do?? I contacted the charity Matthews Friends founded by the wonderful Emma, they had a meeting about Jess to see if she fitted the criteria and thankfully she did! This amazing charity agreed to fund the diet for Jess until our local NHS could take over - PHEW!!
It wasn’t easy. In fact her seizures got worse for a while, but what I saw was a much brighter, engaging and talkative little girl, it was amazing!
Gradually, over some months, the diet started to help with her seizures, so much so we managed to wean her off Keppra completely and lowered her other meds! For us, I can confidently say Keto was an absolute godsend and probably saved her.
At the time of writing, Jessie was on the keto diet for four years before being weaned off. She is fully tube fed now, after recently losing her swallow. She kept getting chest infections and lost a lot of weight. The hope was we could get her back on real food, but - after lots of tests - it’s not to be, she is still on the meds (The MAGIC 3!!).
She is on good doses but there is room for movement in them. Her tonic/clonic seizures are fairly controlled, but as we know Dravet frequently likes to remind you that it's there. She has around 15/20 absences a day and a few complex partials.
She still loves her special needs school, has lots of friends and is a proper social butterfly. She is a happy little girl, sorry teenager (ha ha). Her nick name is my little DIVA! And she is xx