Hope for Ella: Fundraising for Private Therapy After a Rare Genetic Diagnosis

Ella has just turned one-year-old. She is a content little girl who adores her big sister, loves listening to Five Little Ducks on repeat and has an infectious chuckle! However, her life to date has been complex and, at times, incredibly traumatic, both for her and her parents.

Ella’s mum Rhianne experienced a complex pregnancy and was monitored every two weeks after it was found that Ella had fluid on her brain. Genetic testing was carried out during pregnancy, but the results showed no abnormalities and Rhianne was given the all clear. However, when Rhianne gave birth at 37 weeks, Ella weighed just four pounds and 15 ounces and spent the first seven weeks of her life in NICU.

Her first few months of life threw Ella challenge after challenge. She was unable to establish oral feeding, so was tube fed for six and a half months. At eight months old, Ella was blue-lighted to hospital with a suspected seizure, but was later diagnosed with bronchiolitis and put on oxygen.

Whilst this time was extremely traumatic to witness, Rhianne explained that Ella unexpectedly “started taking her bottles orally after being tube fed for such a long time. Although it was a horrible experience, I'm also very grateful of the horrible week that we had because it means we can obviously see her little face [without the tube] now, we can see her little smile.”

Whilst Ella was facing these health battles, further genetic testing was undertaken, with results showing that she has a “really rare genetic condition called CSDE1. She’s the only one on the UK known to have it, with only 24 cases worldwide, so it’s a very rare condition.”

With so few people diagnosed with the condition, there is very little information available and much of Ella’s future remains uncertain. However, early intervention and access to appropriate therapies can have a lifelong impact on a child’s mobility, communication, independence and quality of life.

Looking to the future

A life-changing diagnosis can be incredibly difficult to accept, but for some families, it can also provide clarity and understanding. Rhianne explained that “we're really grateful for the diagnosis because we knew there was going to be [developmental] delays. So instead of us panicking, we know we're on a slower journey. We know our timescales are going to be different to a typical milestones.”

Ella began receiving physiotherapy through the NHS, but these sessions were every six to eight weeks, which simply wasn’t enough for Ella.

Discovering Funding Support with Tree of Hope

It became clear that private therapy was the route Ella needed to access, but when “you’re on maternity leave earning no money, it just becomes such a struggle. Financially, it was becoming such a burden and then you end up drowning with all these therapies.” Rhianne explains.

Thankfully, and quite by accident, Rhianne was scrolling social media, when she came across another family fundraising with Tree of Hope. Having previously been on charity committees at work

Privately funded therapies in Chelmsford are unlocking Ella’s potential

Ella began private physiotherapy at eight months old at Mini Wonders in Chelmsford and is already making great progress. Rhianne’s primary goal was for Ella to be sitting by the time she starts nursery in September, “just so she has that little bit of independence, and she can look and observe, and see what’s going on. To think we’re three months into the journey with physio and we’re already sitting. When you see the progress that she’s making… at eight months she couldn’t even hold her head up and now she can sit for 20 minutes on her own”

 Rhianne believes that ongoing physio will hopefully help Ella reach her longer-term goal of walking independently, with or without walking aids.

Ella has also been approved for a NAPA intensive therapy programme from 15 February to 5 March 2027. The programme will involve 3 hours of therapy each day, 5 days a week, for 3 weeks, consisting of:

• 1 hour of Dynamic Movement Intervention (DMI)

• 1 hour of Functional Therapy (Fx)

• 1 hour of Augmentative and Alternative Communication (AAC)

Ella will be 18 months old by then, and Rhianne and her family are excited to see what progress can be made through the intensive and how it may support her ongoing development.

Fundraising with Tree of Hope offers opportunities

Ella’s physiotherapy sessions are making a huge difference to her development, but they cost £100 a week. On top of this, the intensive programme comes at a cost of £5,625, meaning Rhianne’s family are finding different ways to raise the money needed to ensure Ella can keep attending.

Rhianne has secured a ballot place in the London Landmarks Half Marathon next year, while Ella’s dad recently completed a strongman competition, aiming to crown the strongest builder, all in aid of Ella’s fundraising. The family have also been offered the use of a family friend’s land, where they plan to host a family-friendly Christmas or Easter fundraising event.

Advice to other families seeking funding support

Whilst initially hesitant to reach out for support from friends and family, Rhianne and her family have really enjoyed the process, as “it gives us something to work towards, it gives us something to focus on and it's so nice to know that it's helping Ella. It's just nice to see progress which has all come from physio, and that physio would not have been possible without Tree of Hope helping us fund it all, and everyone contributing”.

With the high costs of private healthcare, Rhianne stated that providing Ella with these opportunities “simply would not be possible without Tree of Hope and all of the incredible support we have received. We are so grateful to everyone who has supported Ella and helped us to access opportunities like this that we otherwise wouldn’t be able to afford.”

Rhianne concluded that “to any family who is obviously struggling, I think comparison to typical kids is probably the thief of joy, but just enjoying their tiny little steps and moments will bring so much joy and realistically more joy, because you know how hard they've worked for it.”

You can support Ella’s journey here: https://www.treeofhope.org.uk/get-involved/childrens-campaigns/hope-for-ella

Or you can follow her milestones on Instagram at @hopeforellap.