Annabelle arrived on time in June 2018 in Manchester, UK. All seemed well until she was 4 months old where she had a suspected lazy eye. From here our journey began as she was diagnosed with nystagmus which is an indicator of a neurological condition. Fast forward a couple of years and thanks to the 100k Genome project, we now know that Annie has been born with a very rare genetic condition of the MAPK8ip3 gene which is affecting the myelin levels in her brain and by consequence, her development.

Having just turned 3, there are plenty of milestones that Annie has not yet met. She currently cannot stand up or walk and struggles to sit up without support. Playing is difficult because she has limited vision and always needs her hands for balance. In the past few months she has started babbling and is quite the chatterbox but we are unsure if this will develop into talking.

To date we have had practical support from physiotherapy, occupational therapy, the vision team, orthotics, audiology and SALT all through the NHS which we are extremely thankful for. However, recently we found a neurological rehab centre over in the Wirral and have been attending regularly for various alternative therapies such as CFT, vibration therapy and portage, all from which, we have seen real progress.

We are hoping to raise funds for Just4Children to continue with these therapies to help Annabelle reach her full potential. We would also love to do some more Hyperbaric Oxygen Therapy with her, to help create new neurological pathways in her brain. The changes we saw in Annie from last time are very encouraging.

We understand early intervention is key and know that the more support we can give her, the further she will go.

You can follow her journey on Instagram under @its.allaboutannie

We are truly grateful for any support that we receive to help our beautiful little girl.

Thank you

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