Mia is a smiley happy 3 yr old with a cocktail of medical problems diagnosed at 4 months old. She was born normally, perfect weight, height and length, no problems reported, no scubu needed and feeding perfectly our healthy happy baby. Then at 2 weeks old Mia started having seizures which were misdiagnosed by our GP as reflux colic.
After a long battle and many trips back and forth to the surgery, at 16 weeks he listened to this neurotic mum and we ended up in our local hospital having an EEG and an MRI scan and then eventually got shipped to Oxford's Children Hospital as the "mystery child"
Mia's scans showed that parts of her brain are missing and she has lots of fluid where brain should be she also has subdrual effusions (pockets of fluid to you and me) which are usually associated with a blow to the head or some sort of head truma which Mia has had none!! We spent 2 weeks in Oxford undergoing millions of tests none of which told us how or why or how our perfect baby girl was like this our lives had been turned upside down!!
She has microcephaly (small head, Small brain), CVI registered blind, fluctuating muscle tone, doubly incontinent, has severe global developmental delay and severe uncontrollable epilepsy. She is completely non verbal and cannot sit, roll, crawl, walk or bear any weight through her arms or her legs. She eats 100% orally which surprises everyone. She is on medication to help control her seizures but she still has break through seizures daily, some of which are very self-limited and require no help and some which require hospitalisation and an array of drugs to help bring her back to us!!
On 08/06/2012 we received our official diagnosis of RARS2 mutation mitochondrial epilepsy which is a progressive degenerative condition which will eventually steal both my children from me (Cory, Mia's younger brother has the same condition) But despite all of this Mia is amazing and she has the most infectious smile and the best giggle ever, she started nursery part-time last week (10th Sept) and has surprised us all with how well she is coping. She has a gastrostemy operation planned for later this week (21st Sept) for top ups and medication issue for times when she is in status with her seizures.
She copes fantastically well on a daily basis and to us she is PERFECT!! Who knows what the future holds she has yearly MRI scans and yearly there are more parts of her brain missing but clinically apart from her deteriorating epilepsy she has not lost any of the skills she has learned along the way and while she stays happy we are happy!!