My nephew, Riley, has recently been diagnosed with a rare genetic disorder called MECP2 Duplication Syndrome, In short, this means he has too many x chromosomes within his DNA. This can cause traits similar to Cerebral Palsy.

Symptoms of the condition can cause: misshapen skull, low muscle tone, limb spasticity, high reflux, significant developmental delay, intellectual disabilities, limited speech/language, autistic behaviours, recurrent infections (more so respiratory), seizures, low bone density/fractures, developmental regression ( can lose speech and ability to walk at adolescence).

There are only 200 cases diagnosed in the UK and the average life expectancy is 22 years of age.

We are extremely lucky that Riley is so far building his development and has just taken his first steps but his future is very much unknown. Within his first 17 months he has been resuscitated four times already due to his weak respiratory system.

MECP2 Duplication UK (https://mecp2duplicationuk.org.uk/) are a charity focused on:

Providing support emotionally, practically and financially to families affected by MECP2 Duplication Syndrome, reducing isolation and exclusion

To raise awareness of MECP2 and join up with other organisations of similar  conditions

To promote and support research into MECP2 Duplication Syndrome which could potentially lead to treatments, enhancing the lives of those affected.

For the charity to grow and develop for the long term benefits of the mECP2 affected community.

Due to minimal awareness the charity really struggles for funding. Trails in the US have proven close to a reversal to this aggressive genetic disorder and are hoping, with support, that there will be a human cure soon.

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