I am taking part in the Nottingham half marathon to support my cousins Mia and Cory.

A message from Leanne and Dean, Mia & Cory's parents:

Mia and Cory. Well, we finally have a diagnosis on Friday 8th June 2012 we found out that the kids have a genetic condition called Pontocerebellar Hypoplasia Type 6 (or PCH 6 for short) caused by the RARS2 gene mutation and mitochondrial epilepsy. This is a relatively new condiditon which there isn't much research about but the children and their symptons have been presented at a National Neurological conference in Birmingham and we are in consultation for them to be written into medical papers in order to help future diagnosis!!

Mia - despite her relatively normal looking exterior is severely disabled with a cocktail of problems, a brain condition, microcephaly (small head/small brain), hard to manage epilepsy (although currently, touching wood, well controlled on a mix of 2 antiepileptic drugs), visual impairment (registered blind), fluctuating muscle tone which leaves her unable to hold her head, sit, roll, crawl, bear weight or walk.

Our house is over run with equipment, chairs, standing frame, feeding chairs, and relaxing chairs all just to help Mia's posture on a daily. Most days we also play host to a range of professionals; physios, occupational therapists, etc, with appointments up and down the country and she never complains!!! She also has a PEG into her tummy in order for us to give her her medicines and top ups when she is unwell or is sleeping off her seizures or the medication associated with controlling them in an emergency!!

She wears a lycra suit daily, thumb posts, peidro boots and leg splints over night!! On a daily basis she never fails to amaze us, she is relatively healthy and such a happy little girl and apart from her head she continues to grow at the rate of a normal 8 year old child! She attends a special needs school in Kettering full time and is progressing and fitting in very well indeed - she comes home everyday absolutely exhausted but her smile tell us she has enjoyed the day!! And her little brother

Cory, well......he is a monkey, at now nearly 6 years old he is registered blind, has microcephaly and has severely hard to control epilepsy too, currently juggling 2 anti epileptic medications with no luck he has many seizures daily!! As things stand he is a very vocal little man, will bear weight, his head control is poor and he is not yet sitting or rolling and we think he will follow pretty much in Mia's footsteps!! He has a range of equipment too from feeding chair to standing frame, he has to wear peidro boots, leg splints and thumb posts daily. He too now has a PEG into his tummy for medications and fluids. He attends Kingsley also but only part-time morning at the minute.

We are continuosly fundraising to assist in buying the kids the equipment and services they need to assist in their daily lives. Their diagnosis and prognosis for the future is unclear and we still have lots of if's and but's and questions surrounding us and family life but while the children stay strong and continue to smile we are one very happy mummy and daddy.

Although we are to assume that PCH 6 means they will never develop any further there is always hope and as long as we have hope we will all continue to smile and who knows that miracle medicine may just be around the corner xxxxxxxxxxxxxxxxxx