Thank you so much for Amy's quilt that arrived this afternoon. It's absolutely beautiful and I am truly touched that complete strangers would put such love and care into something so beautiful for our children. Amy only saw the quilt for 2 minutes and, unfortunately, had a prolonged seizure. She's now tucked up in bed sleeping off the seizure and rescue medication but under cover of her fabulous quilt. Will get smiley pics from her when she feels better. Thank you again
It's truly special what you guys do xxx
Born in February 1998, Amy appeared to be a normal, healthy, happy child. Amy was a content baby but took a lot longer to hit her milestones but we didn't think anything of it. At the age of 18 months, Amy wouldn't weight bear and upon mentioning it to the paediatrician she was referred to a specialist clinic for assessment. With no formal diagnosis we were told to keep in touch with the genetics team. In August 2000 while sharing a bath with her sister, Amy had her first seizure.
Admitted to hospital, the Consultant diagnosed Rett Syndrome after a prolonged EEG. The diagnosis was then confirmed by the end of that year with a blood test.
Since her diagnosis, Amy's epilepsy has dictated Amy's life, as well as our family life. At her worst, having around 150 tonic clonic (grand mal) seizures a month. Her epilepsy has never been controlled despite many drugs, diets and even surgery. Her epilepsy remains a massive problem and is particularly restrictive for her.
Amy is now completely dependent - she can't walk or talk and is nil by mouth. She has had a gastrostomy and a is fed by a jejenostomy as her stomach no longer works. She has problems with her bowels and underwent surgery for a severe scoliosis five years ago - happy to say the surgery was a success. She has spent the best part of 2011, 2012 and 2013 in hospital with issues related to severe reflux and seizures. As a result she has had two fundoplication surgeries - one in 2012 and again in 2013.
Amy never ever complains and for the most part is a happy young lady.
She fits every day and requires regular (almost daily) rescue medication.
We attend Rachel House Children's Hospice in Kinross regularly for respite - Amy loves to be spoilt by everyone and especially loves the Clown Doctors who visit there.