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 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 hoping to extend our home so that we can stay in our own home when we have respite care.  We currently have only one bathroom which is an en-suite and no where to sleep/use bathroom when she stays.  

We would also like to give Blake the ability to move around the house a little. She is currently able to move her wheelchair in little bursts but we have no room for her to move around more than a foot or two. We are hoping to make our home open plan so she has chance to move around.  

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. 

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.

Recently we went 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. 

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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