‘I had so much more love to give’
MUM WHOSE BABY DIED IN HER ARMS WANTS TO HELP OTHERS LIKE HER
SAYING goodbye to a child is something that no parent should ever have to deal with. But it is a poorly understood reality for many, including those who have children affected by rare genetic diseases.
It has been almost five months since a mum from Caerphilly, Emily Taylor, was forced to part with her daughter, Violet, who died at just 11 months old and now she wants more people to be aware of what conditions like hers mean.
Violet was the first person in Wales to be diagnosed with a rare neuro-genetic disorder called TBC1 domain containing kinase (TBCK), and it came as a complete shock to people around her, as there were no signs of anything being wrong until about a month after she was born, when she was taken to hospital with bronchitis.
She was diagnosed with TBCK in June 2023. It’s a rare condition caused by genetic mutations usually carried by both parents that currently has no cure.
Lots of children with TBCK have mild to severe developmental delays, low muscle tone, and in rare cases, seizures and weakness. Violet’s lack of muscle made it impossible for her to hold her head up on her own, and her condition rapidly worsened.
After spending two months in critical care at University Hospital of Wales in Cardiff, Violet’s family was eventually informed that there was nothing more that could be done to treat her. Violet was then transferred to Ty Hafan Children’s Hospice in Sully.
In August, 2023, the Taylors had their family life changed forever when Violet passed away.
Now some time has passed, the family, including Emily’s sons, Theo, aged six, and Logan, aged four, are continuing to process the different waves of grief which have affected them since.
Emily said: “I always thought grief was like a period of time after somebody dies when you’re sad, and then you’re okay. What I’m learning is that it just doesn’t ever go away. You’ve just got to learn to live with it. Because life goes on. What other alternative is there? You never move on from the grief, you just sort of move with the grief or the grief moves on with you.
“We talk about Violet all the time and I know as the boys get older, they can have so many more questions. They don’t understand genetics and everything now.
They just think she was really poorly, and that’s why she died but we are always open with any questions they have.
“You grieve for a number things in this instance. Because when we had a diagnosis, when we were told, you know, she’d never walk. She’s never going to talk. So you, you grieve for that because you grieve it for the child.
“You just assume your child is going to be able to do all these things. And then there is the grief because we always wanted three children.
“Now we’ve only got two children, and we wouldn’t be able to have any more because you wouldn’t want to put them at risk, and we can’t get IVF funding because we’ve got the two boys.
“And then we thought we were going to have this healthy, perfect child and we didn’t have that. We had this perfect little baby and then we lost her.”
During the final moments of Violet’s life, her family was determined to share as much time with her as possible. Her mum and dad even said their wedding vows in Ty Hafan hospice, where Violet spent her final weeks.
They were not allowed to get legally married on the site, but it is a memory that still lives on with parents Emily and James now. Emily said: “We can’t believe that actually happened to us. In those moments, you just don’t realize, exactly what you’re going through. But thinking about those times now, they’re so precious. When you’re being told your child is going to die, I don’t think you can really
grasp it and prepare yourself for it.
“And even towards the end, we knew she was going to die, but we didn’t want to watch her slowly go, but we also didn’t want to watch her suffering any more.
“But just having those memories now. I mean, you just don’t realise how significant they are at the time. But now that she’s gone, I mean – they are just everything and it’s so special to have those moments.”
The family is now more determined than ever to keep her memory alive by raising awareness for others like her. Since her passing, Emily, has become set on a mission to help other families in her situation. One of the challenges, she believes, is improving parent’s knowledge of what tests can be done.
Emily said: “You can do something called the wings test. That allows you to be able to see if your child is affected by anything if they start presenting with any of the symptoms which could mean they have a rare genetic disorder. If I’d known about that, or known if it was available, she could have had that early on.”
After encouragement from Morgan Ridler’s mum, a little boy who recently passed away after capturing people’s hearts in Wales, Emily has been making pebbles inspired by ‘Morgans Rocks’ by Morgan’s Army with the aim of sharing Violet’s story far and wide.
And recently, it even helped her meet Rhiannon, who works at the NHS Rare Disease Implementation Group, who found a pebble and got in touch with the family to see if they could help them to raise awareness for rare diseases.
A garden opened at the Wales Genomics Health Centre in Cardiff to raise awareness for rare diseases, and Violet’s family were invited to plant the first of 700 bulbs by Rhiannon.
The initiative was powered by the NHS Rare Disease Implementation group, and is the first of a number of gardens which are being opened to recognise and raise awareness of rare diseases, as well as create space for families who have been impacted to spend time in.
Emily noted: “We were raising awareness and doing the social media side of things up until I met Rhiannon, we had been doing the pebbles but to actually get within the NHS is amazing to show people how to get the tests and tell people about genetic conditions.
“These gardens are the first thing for us, and I’m going to meet with our Senedd member and the council to talk about doing one in Penallta Park next. It’s all sort of started in the last few weeks.”
Working with the Rare Disease Implementation Group, Emily is also trying to create a timeline of Violet’s journey, from every appointment, to the symptoms she displayed up until the diagnosis to help depict the process, and reflect what families go through when they are given such life-changing information.
Emily said: “It would be great to have a network where parents of children with rare genetic disorders can find each other, because when you connect with someone who’s going through what you are it’s a different type of understanding.
“I’ve recently been speaking to people about whether there could one day be an app which connects people together who are going through similar things.”
One of the challenges that has come hand-in-hand for her is the sense of isolation that comes with having a child who has a rare genetic disease, and how difficult it can be to find other parents going through the same situation.
Considering what she would say to someone going through the same thing as her family, Emily said: “You’re not going to wake up one day and not be sad anymore.
“I have so much more love to give. When you have a child, you just assume you’re never going to have to watch them die. Your mind and your heart and everything, you are just prepared to love them until you die.
“So then when they do die, you’ve got so much love. And that’s the grief. I’m never going to stop loving my living children. So I’m never going to stop loving Violet.
“The grief is just something that’s going to just be with us forever. How do you find ways to cope with that, to carry on? My way is by talking about it.”
I went to meet Emily at her house recently, and although grief is a process that Emily acknowledged was different for everyone, it was clear that, despite the fact she had passed away – Violet’s journey is not yet over, and she remains very much a firm fixture of people’s lives, both in their community and at home. Travelling up to the top of their village in Caerphilly, there are still a trail of ribbons stuck to railings and gates.
Once purple, turned a fading blue colour, they are a warm reminder of Violet’s presence, as her mum had tied them to different points around the area for charity. Arriving at the house, there were many nods to Violet, with various shades of purple dotted around in different places, and you can really feel the love that lives on for Violet from her family, and the happiness that she brought them that remains uneclipsed.
The AWMGS WINGS test is somthing Emily and others are campaigning for more awareness of, as it is designed to reduce the child’s diagnostic journey by searching through their whole genome data to find a genetic cause of their clinical features. ■ For more information, you can visit The Wales Infants’ and Children’s Genome Service (WINGS) website here: https://medicalgenomicswales.co.uk/index.php/ health-professional-information/ wings.