Caring for our daughter with an ultra-rare condition

Our journey into the unknown

Emma and Jon Thompson are beneficiaries of After Umbrage from Newton Upon Derwent, near York. Here we hear Emma’s story, about caring for their daughter with an ultra-rare condition, in her own words. Resilience and honesty leap off the page.

“Parenthood is a journey many enter into with a preconceived idea of how it will play out. We have a destination in mind for our family. However, the birth of our 3rd child, Ellouise (now aged 4) changed all of this.

Caring for our daughter with an ultra-rare condition
Ultra rare conditions don’t warrant a full name

When Ellouise was born we already had two fit and healthy children, Lilly who is now 9, and James, now 5. When Ellouise was diagnosed with a condition known only as ‘3p26.3-25.3 deletion’, our preconceived expectations were turned upside down. There are only 50 cases in medical history. At her time of diagnosis, we were one of only 9 families in the world with this condition. Ultra rare conditions do not warrant a full name.

Ellouise on her scooter
Pulled the floor from underneath us

It felt as if someone had pulled the floor from underneath us. No one could tell us what to expect for Ellouise’s future.

Would she be able to live independently? Would she be able to communicate in the world? How would she develop physically?

Caring for our daughter with an ultra-rare condition

Rare conditions are explained as a spectrum of medical implications that can be displayed. Only time will tell how they manifest in each person. This was incredibly hard to process. Uncertainty of this scale was something we had never experienced before and our world was turned upside down.

Uncertainty of this scale

Quickly, we became experts in Ellouise. We pushed for screenings to help narrow down the potential impact of her condition. You can imagine, we wanted to know as much as possible. Exploring developmental schemes and therapies were two approaches we focused on. We were trying to give her the best start in life. All, whilst juggling the needs of our family, of course.

We learned about After Umbrage

Jon and I learned about After Umbrage from a friend of the Founder, Tara Belcher. Sarah told us about the amazing work that After Umbrage did for families caring for loved ones with life-limiting conditions. We applied for some much-needed family holiday time. Quite understandably, when we visited the beautiful cottage near Bath, we were blown away. I grew up in a small village called Urchfont near Devizes, Wiltshire. Thus the cottage was very close to a lot of my wonderful childhood memories and we decided to use our time at Kingham Cottage to create new family memories. We needed a break from the daunting future and all the ‘unknowns’ ahead.

Kingham Cottage didn’t disappoint

It is a beautiful cottage set in a quiet village. Yet, it’s near to so many wonderful places. We made Christmas baubles in Bath, visited Longleat Safari Park, and spent a fabulous day a Bowood Adventure Park.

Ellouise and her elder sister Lilly at Bowood Adventure Park
The happiest child

Ellouise has so many lovely mannerisms. She is the happiest child we know, smiling constantly. She loves to be the centre of attention and dances at every opportunity!

Lockdown has been a mixed experience for us as a family.

Spending time with our children has been immensely rewarding but also exhausting. Ellouise is into everything and has no understanding of danger. To elaborate, we had a horrific accident at home where Ellouise scalded herself and spent almost a week in the regional burns unit. Thankfully, the burns are healing nicely but we are more aware than ever that despite Ellouise turning 4 in August we cannot take our eyes off her for one moment.

Family walk during lockdown
Full time carer – not what I have envisaged

I used to be the Director of Strategy at Aviva. Today, I am a full-time carer for Ellouise and mother to our children. Of course, I never expected my life to be like this as I had been very career-focused. I have left corporate life – for now – to ensure we can focus on Ellouise’s needs and to be here for our family. Our hopes and fears for the future are still very much at the forefront of our lives. For now, I have paused my career to be a carer, yet one day I may return to the corporate world.

Focus on today

However, we have learned to focus on today. I worked on this as I tried to process Ellouise’s diagnosis. We deal with the immediate challenges we face and don’t lose sight of the amazing progress each day brings and the wonderful family we have.

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