Blake's story | Julia's House

“Blake is a very smiley, sociable eight-year-old and for a child unable to talk has perfected the art of communicating with her eyes. She'll cough to catch someone's eye in a crowded room, laugh in delight when her dad is doing DIY around the house, loves all kinds of music – especially with a good drumbeat – loves to be tickled and her all-time-favourite is people watching.”
- Amber and Mark (Blake’s parents)

Blake has an extremely rare condition: HNRNPH2, which manifests in either the inability to walk or talk. In Blake’s case she has high muscle tone (hypertonia), so her body is quite floppy; she uses a wheelchair and a hoist and cannot walk independently, though she can shuffle a little and wheel herself with adapted equipment. Epilepsy often accompanies the condition and for Blake this is managed with daily anti-convulsant medication. Blake is learning to use an Eye Gaze computer at school so she can communicate, make her own choices and express herself more fully. Although she eats orally, she needs close supervision to ensure she doesn’t choke and has a gastrostomy tube for medication and top-ups.

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Years without a Roadmap

Getting Blake’s diagnosis took the family several years. From just eight weeks old, when it became clear Blake wasn’t hitting her milestones, she had to endure many rounds of tests – for things like Prader-Willi, Rett syndrome, Kabuki syndrome - with consultants asking more questions than providing answers. At one point they thought a diagnosis might not come, which was impossible for the family to fathom – they were completely in the dark.

A full genome sequencing test finally gave them the answer they’d been looking for: Blake was diagnosed with HNRNPH2. Her condition was so newly identified that the doctor handed Mark and Amber a printed sheet of paper, recommending they find a community already living with the condition to help them learn more. They found the Yellow Brick Road Project in the USA, a network who - at the time of Blake’s diagnosis - knew of only 70 children worldwide with the condition. Now in 2026, there are 215.

Seizures are hard to spot

Epilepsy is common with HNRNPH2, and Blake was nearly four when her seizures started. Because she can’t move or speak, the seizures are almost impossible to spot. Blake has daily rescue medication and anti-convulsant drugs, but she can have two or three seizures in a single night, with no obvious trigger, some lasting up to 45 minutes. Coming on “like the flick of a switch,” says mum, Amber.

Blake also has a tummy peg because she is under weight for her age. She does eat orally but must be closely monitored to make sure she doesn’t choke and her food has to be cut up very small, so mealtimes take time.

A family stretched to the limit

By the time Blake was five, Amber and Mark were running on empty. Their eldest daughter Olivia is autistic and was being home-schooled and middle daughter, Bella was caught in the middle – having to call 999 herself when Blake seized on one occasion – and didn’t have anyone outside the family to talk to. Bella didn’t want to get involved with the young carer school support groups.

Without a large extended family to call on for support, Amber had had to leave her career as a Placement Coordinator in a special educational needs school and Mark had to walk away from his job managing an engineering team, so they could do jobs that gave them the flexibility (and time) to cope.

It wasn’t until they applied for support through a disability social worker, that they were introduced to Julia's House, who Amber describes as “phenomenal from the start.”

We thought a hospice wasn’t for us

Like many families, Amber and Mark weren’t sure that a hospice was right for them. That word “hospice” carries a weight that felt at odds with where they were - caring for an energetic, joyful eight-year-old, they weren’t sure what to expect. But when they saw what Julia's House was offering, they didn’t look back.

Impressed by how methodical the Julia’s House team were in assessing Blake, tailoring their support to her condition, providing a medically suitable care package, knowing exactly how to handle the peg, suction machine, her equipment and the box of daily drugs, Amber added “they took the time to get to know Blake properly.” Getting to know her quirks - the headshaking 'no' that doesn’t mean no more food – the things that delight her, the things that unsettle her and the maniacal laughter or utter silence that can indicate a seizure.

“Their thoroughness,” says Amber, “made us all the more organised too.”

Blake has a whale of a time

“Blake has a whale of a time at the hospice” says Mark. “She loves the soundboard – completely mesmerised by it - the music sessions and being taken out to the garden, where they put her chair on the trampoline. She has also enjoyed the rise-and-fall sensory bath with its lights and music, and she was baking the other week!”

What Amber and Mark hadn’t anticipated was what Julia’s House has helped to bring out in Blake. Mark explained “she didn't used to reach for toys and now she pulls her duvet to bring things closer to her. They’ve encouraged her by exposing her to new experiences.” Julia's House has helped expand what the family thought was possible. “Blake is currently learning to use an Eye Gaze computer at school to make her own choices and begin to communicate.”

These milestones have helped Mark in how he interacts with Blake too. He explained “I used to talk to Blake as though she were a baby, but I talk to her like the eight-year-old she is now.”

Before they had support from Julia's House, Amber describes the point the family were at as being a bit lost, “like we were on the Titanic, life was all consuming, but Julia’s House gave us light, something to look forward to in a crappy month.”

Both Amber and Mark work part-time around Blake's care, and they are honest about the toll it takes. Their circle of friends and family who can help is tiny, “people didn’t know how to help, they were understandably frightened” says Amber - one woman, Wendy, a former colleague of Amber's who they now employ as a respite carer and Julia's House are their support network.

When support extends to siblings

Their middle daughter Bella is ten now and had previously not wanted any formal support, but since taking part in Julia’s House sibling events, the family have noticed a shift.

Her friendship group has quietly reorganised itself. At her last birthday party, a karaoke celebration, six of the seven girls she invited turned out to be young carers. She has gravitated towards children who understand her life without needing it explained, some of them already connected to Julia's House.

Bella has also started meeting regularly with Maria, her Julia's House sibling worker, for hot chocolates and shopping trips. And she's excited about an upcoming residential trip; activity days filled with sailing, canoeing and climbing and 3 nights with her friends.

Amber and Mark value this change enormously. With so much of their attention necessarily on Blake and Olivia, it means a great deal to know Bella and her friends “can really enjoy being children.”

The gift of time together

As well as time in the hospice, Julia's House visit the family at home, giving them a few hours to spend quality time with Bella away from home. Time to give her their undivided attention and catch up with what’s going on in her world.

Amber added “not having to do meds on one evening means so much, stressing about whether I’ll have to blend this food, we so look forward to that time together.”

Time to be ourselves again

Thanks to the parents’ events run by Julia's House, Mark and Amber have made a new little group of friends too. Amber explained how “she was looking forward to the LUSH tour for weeks” because “it’s so lovely to have a network of people who go home to a similar situation, who don’t need things explaining, because it is a lonely world.”

“There's something particularly beautiful,” she says, “about being with people who understand.” She and Mark have had nights out with two other couples they've met through Julia's House. Belly laughing together, grateful for the chance to let their hair down.

The hospice treatment room is a particular favourite too – both Amber and Mark book in for massages and reiki when Blake is in a session at school. Mark says “we come out horizontal!”

Amber shared, “Julia's House has helped the whole family move forward - it's inclusion at its finest, they are saviours. They provide light at the end of what can be a very long month.”

Grab it with both hands

For other families who might hesitate – held back, as they were, by what the word hospice conjures – Amber and Mark's message is simple. “Go for it. Grab it with both hands.”

“We felt the same apprehension - opening up to strangers, accepting help from an organisation whose name has connotations at odds with our situation felt counter-intuitive – but what we found was that hospice also stands for laughter, new experiences, support and friendship. And that’s been invaluable for all of us.”

“Saying yes to support from Julia’s House Hospice was the best decision we’ve made.”

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