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Our daughter was born with a rare condition, related to a faulty X chromosome. HNRNPH2 . Currently there are just over 100 children with this disorder world wide! We received her diagnosis at age 3. 

Blake is a very happy natured little girl. She gets her happiness from music, lights, people’s smiles, dancing and eye contact. If you catch her gaze she will hold it and melt you with her smile. 

Her gene deficiency means that she has a number of difficulties in life. 

She is hypotonic (floppy muscles) which means she cannot stand/walk. This can also cause saliva/choking complications.  She is partially peg fed (tube in the tummy) to get meds in and liquids. She is very skinny and needs tops ups nutritionally. 

She is non verbal to you and I, but she communicates using smiles and screams- some people find this hard to listen to which makes going out a challenge sometimes. 

Blake also is afflicted by epilepsy. This is by far the worst thing we have to live with.  We carry rescue medication. We have had some horrible experiences with epilepsy which have seen her in hospital with nurses breathing for her.  We monitor her sleep and rarely don’t let our brains rest from the fears of when the next one will be.  We are lucky to have a wonderful respite carer who loves blake as much as we do. When she is with Wendy, we can breathe a little. We are also lucky enough to have support from Julia’s house which provide us with much needed support.

We began home renovations in 2023 to give Blake the ability to move around the house. She is currently able to move her wheelchair a little with her hands. We have made our home open plan so she has chance to move around and explore which she is in the beginning stages of learning. We have spent every penny of savings we had on achieving this. We have utilised a government grant also but we still have so much to do. We have walls to knock through, doors to move, a ramp to build, garden landscaping, hoists to install and the list goes on.

Blake would also benefit from a sensory/calm space as noises can overwhelm her very easily.  She cannot be placed down on the floor and left alone so a safe place to sit her, ie padded floor would be amazing. 

We have many pieces of equipment to store and no place to put them. We currently have a Walker/stander/wheelchair/pushchair/scoot/rising chair/p-pod.  We are hoping to have a motorised wheelchair in the not to distant future.  But again we will need to raise monies for this dream. 

We fully appreciate life is incredibly hard to finance for everyone at the moment. But life with a disabled child can be crippling. Her next wheel chair/pram is £8000 alone with no extras like rains covers etc!

Undoubtedly our life will be full of fundraising as Blake needs a lot of equipment and opportunity. We appreciate anyone who is taking the time to read our story and any donations given, more than you will ever know.

Back in 2022 we were lucky enough to go to a European conference to meet 21 other families who have children with HNRNPH2.  This was an incredible experience, one we would love to do again in the future. We learned that awareness is crucial to ensuring people have the right diagnosis. Before they found Blakes condition, the specialist thought it could have been cerebral palsy or Retts syndrome as they share similarities.  We would like to raise awareness for HNRNPH2 as currently we are one of only 5 families in the UK, but there may be more.  When we were together, we had an unmistakable bond as our children have so many similarities. We have learned that tomorrow is not promised so we must make the most of each day.

The specialists are currently looking at human trials of medicine to help with HNRNPH2……. This is terrifying and exciting all at the same time. We will keep you posted on how it all goes.

If you can help us to make our lives easier and Blake’s life more comfortable, we would be incredibly grateful. 

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