I just wanted to say a massive thank you to everyone who was involved in making Aimee's amazing Love Quilt. There are just no words for how beautiful it is, how special it is to her (and us) and for simply how much love have gone into it. Aimee is a really snuggly little girl and loves nothing more than being in her pjs, dressing gown and snugged up in a blanket so this is the most perfect gift for her. Thank you all so much. With love, Marie xxxx
Aimee, was born in September 2005 and for the first few months of her life appeared completely normal, however, this all changed just before she was 4 months old when she had the first of what would be many, many seizures. This particular seizure lasted 45 minutes and resulted in her being intubated and retrieved by Guys and St Thomasâ€™s paediatric paramedics. We were blue-lighted to the Evelina Childrenâ€™s Hospital in London and Aimee spent 2 days in Paediatric Intensive Care where she had a CT scan, EEG, MRI, lumber puncture and various blood tests. Everything came back clear and after spending a few days on the neurological ward we went home hoping that it was just one of those things and it would never happen again. She was put on the anti-epileptic drug, Phenytoin, but it was explained to us that it was quite unusual for babies of Aimeeâ€™s age to have epileptic seizures.
Over the next five weeks life went back to normal, although we did notice Aimee â€˜twitchingâ€™ every so often. She looked just like she was being shocked; her arms would fly out, her head drop and her eyes roll. We would soon learn this was seizure activity known as myoclonic jerks. Then on 23rd February 2006 the seizures started coming thick and fast. We had been given rectal diazepam to administer as soon as a seizure began and had been instructed to dial 999. The seizures always went into status, meaning they simply last too long. She was averaging 2-3, 45 minute seizures a week and after a few weeks the diazepam ceased to be effective. More tests were carried out but no answers found.
We then started to do our own research and I began trawling through various epilepsy websites. I came across a young boy in Australia whose story was identical to Aimeeâ€™s. He had been diagnosed with a very rare and life-limiting form of epilepsy called Dravet Syndrome, previously known as Severe Myoclonic Epilepsy in Infancy. We requested the genetic testing, which Aimee was eligible for, as clinically she fit the diagnosis. 5 weeks later a positive result came back.
Having a diagnosis made a huge difference to Aimeeâ€™s care as Phenytoin, the drug she was still taking, is often shown to have negative results for children with Dravet Syndrome. The diagnosis has also enabled us to access appropriate therapy and services for Aimee.
Aimee is now on a number on anti-epileptic medications, which control the seizures to a degree. Unfortunately as a result of the various side effects of these drugs Aimee is now 100% tube fed. At almost 5 years old Aimee has no speech, yet can sign around 30 words and although she did learn to walk for a brief time, has since regressed and is no longer walking. When she has a big seizure it is not uncommon to see some form of regression in Aimee. As well as being diagnosed with Dravet Syndrome Aimee has a diagnosis of ASD and a moderate to severe learning disability. Aimeeâ€™s care is shared between our local hospital and Evelina Childrenâ€™s Hospital in London.
Even with all the difficulties that face Aimee, she is one of the happiest children you could ever wish to meet. She loves to colour, go to the park, look at books and she LOVES Mr Tumble and Peppa Pig. She is a wonderful daughter and a brilliant little sister to Katie, who just loves her to bits.
Since the above was written Aimee now attends our local special needs school, which she loves. She currently has around 3 small seizures a week and although she still has no words she has around 70 signs and is making lots more sounds.