Blake Spillard beyer

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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 worldwide! 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 genetic deficiency means that she has a number of difficulties in life.

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

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

Blake is also 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 let our brains rest from the fear 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 provides 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 the 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, i.e., a 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, scooter, rising chair, and P-Pod. We are hoping to have a motorised wheelchair in the not-too-distant future. But again, we will need to raise money 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 wheelchair/pram is £8,000 alone, with no extras like rain covers etc.!

Undoubtedly, our life will be full of fundraising, as Blake needs a lot of equipment and opportunities. 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 Blake’s condition, the specialist thought it could have been cerebral palsy or Rett 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 make our lives easier and Blake’s life more comfortable, we would be incredibly grateful.

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7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover our core operating costs.

If we raise insufficient funds, or surplus funds, then the funds will be used, if appropriate, to fund support for our child’s needs in accordance with Tree of Hope’s charitable objects. If in those circumstances we are unable to use all or part of the funds for the benefit of our child in accordance with Tree of Hope’s charitable objectives, then any funds that cannot be used will be transferred to be used for the general charitable purposes of Tree of Hope.