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Leia’s story: “Having a diagnosis helped us feel prepared”

From left to right: Leia's dad holding her baby brother, Leia in a buggy, Leia's mum holding her other brother

When baby Leia failed her newborn hearing test, first-time mum Katie knew something wasn’t quite right. This is Leia’s story, told by her mum, Katie.

“Right from the beginning, I knew something was off. Leia wasn’t feeding well, she was very jaundiced, vomited a lot and just never seemed to gain any weight. Everyone told me it was normal baby stuff but I just knew it was something more.”

The family didn’t have to wait long for some answers. An MRI revealed Leia had significant brain damage, and the doctors soon discovered significant kidney and heart problems too. “A neurologist told us she wouldn’t live for more than a year. We’d have maybe a matter of months with her. But they couldn’t give us a diagnosis or a definite answer.”

Leia was immediately referred for palliative care and the family were introduced to their local children’s hospice. But as precious weeks ticked by, Leia and her parents found themselves still waiting for a diagnosis.

Finally, after what seemed like a lifetime, Leia was diagnosed with a very rare form of mitochondrial disease at seven months old. “We discovered that both my husband and I are carriers of the gene. But, even considering genetics, you’re more likely to win the lottery five times than have the disease. We could never have known.”

Having a diagnosis helped us feel prepared. There are other children who have been diagnosed with the disease, and some have lived well into their teens. Knowing this helped us feel like we weren’t in the dark.

Lockdown

As weeks turned into months, and with a renewed sense of hope, the family of three adjusted to life with a growing toddler. But, when COVID-19 hit and the first lockdown was brought in overnight, Leia and her family found their world on a rocky slope again as Leia’s kidneys started to fail.

“Every time Leia got sick, her kidneys would get worse. They can’t recover as well as a healthy pair, so we all had to shield to try stop any illness in the house. Because of lockdown and shielding, we weren’t able to get Leia help. We lived two years anxiously watching her suffer, and before we knew it, she was in stage 4 kidney failure in 2022.”

Leia was given two options: dialysis or a kidney transplant. Thankfully, Leia’s dad Tom was a match for Leia and, after an intense and isolating few months, Leia was gifted a new kidney.

Building a support network

That’s when Katie discovered the Together for Short Lives family Facebook group – a supportive community for families caring for a seriously ill child, helping families to connect, share and support one another.

Through the Facebook group, Katie learnt about several online sessions our Family Support Hub held for parents during lockdown. “I attended an online session about benefits and it was really helpful. It was reassuring to see there were other families looking for advice and that there were services out there who could help us.”

Katie and her family were also gifted a Center Parcs village break by our Family Support Hub, thanks to our partnership with Center Parcs. So, in April this year, Katie, Tom, Leia and her two brothers, Robin and Dylan, packed their bags and headed to Center Parcs Woburn for a weekend of fun-filled activities.

“There was so much to do and we did as much as we could! A boat trip on the lake, music classes for babies and toddlers, picnics in the woods, watching the squirrels from our cabin, swimming in the tropical paradise and pancakes for breakfast. All as a family.

“The memories we made during our break are so important. I’m very conscious that we don’t know how long we have with Leia, so being able to make really lovely memories that are filled with joy is really important, for both Leia and her siblings.

“So much of normal life is taken away from you when your child is seriously ill. We’re constantly going in and out of hospital with Leia, or we’re emailing or calling different services. To have these opportunities to be part of a community and make memories as a family – it’s so special.”

Family stories