Violet’s story

Emily and James were first told that their third child, Violet, had two potential brain abnormalities during pregnancy. Emily was monitored closely and had a planned cesarean section but Violet was born seemingly fit and well and after a few days of monitoring she was sent home.

Violet was admitted to the hospital a few times in the following weeks, once with a gland infection and then with bronchiolitis. But as both seemed unrelated, Emily and James weren’t overly worried. But by ten weeks old, Violet had started to exhibit other symptoms. Her eyes would flicker and drop when she tried to look up and she wasn’t able to track things as her older brothers had been at the same age. Violet was admitted to a local hospital for a CT and MRI scan and both were inconclusive. But Violet’s mum and dad were becoming increasingly convinced that something was wrong.

Emily says: “Over the weeks that followed, the list of worrying things stacked up. Violet still wasn’t smiling, her eye movements continued to be erratic and she had no head control. We did our best to enjoy our first Christmas as a family of five but the nagging doubt was there all the time.

“In January, Violet started refusing her feeds. She was diagnosed with Covid and was admitted to hospital to be tube fed. Thinking that the virus was the cause of her inability to co-ordinate breathing, sucking, and swallowing, the tube feeding was only meant to be a temporary measure. But as it turned out, Covid was just the catalyst to a much bigger problem and Violet never regained her ability to feed without support.

“We were sent home with her NG tube but Violet started being sick, often up to eight times a day. We had to call an ambulance several times because she turned blue and for months we were constantly on edge, fearing the same happening again. We were emotionally and physically exhausted at keeping a constant watch but we were too frightened to leave her with anyone. We were told that it was just reflux and that she would grow out of it. We knew it wasn’t, but no-one was listening to us.”

Violet was admitted to hospital two more times due to concerns about her weight. She had a new feeding tube fitted and her reflux medication was increased but nothing worked. Around April time, Violet started holding her breath, often to the point where she would turn blue. Emily and James expressed their concerns yet again, but one evening, after eleven episodes of breath holding in just half an hour, they decided that enough was enough and took Violet straight to A and E.

 

Violet was admitted to hospital with low blood oxygen levels and diagnosed with sleep apnoea. One night she had such a severe episode that she was transferred to the high-dependency unit. She was given more oxygen but over the course of the following week, the levels of CO2 in Violet’s blood rose to dangerous levels and she was transferred to the Noah’s Ark Children’s Hospital for Wales.

Emily says: “As soon as we got to Noah’s Ark, everything felt different – like we were going to get to the root cause instead of treating a series of separate symptoms. On our first night, a doctor came and sat next to us and asked us to tell them all about Violet and our concerns. For the first time in nine months, I felt listened to and understood.

Over the course of the following days, Violet continued to deteriorate. She caught chicken pox and had to be isolated and she needed an increasing amount of breathing support.

Emily says: “Seeing our baby sedated and fully ventilated was horrific. She was connected to so many wires and tubes and, desperate as we were to hold and cuddle her, we couldn’t. Our boys had to go and live with our parents while we stayed with Violet. No parent wants to choose between their children but we felt we had no choice. The only thing we could do for Violet was to be by her side.”

About two weeks into their stay at Noah’s Ark, Emily and James were given a diagnosis. Violet had TBCK syndrome, an extremely rare neurogenetic disorder of which there are only around 100 reported cases worldwide. TBCK is caused by genetic mutations usually carried by both parents. Both Emily and James were carriers of the gene.

Emily says: “Not having ever heard of TBCK, our first reaction was relief. We’d known that something was wrong for so long, it felt better for a while to know that we finally had a diagnosis and that surely now, there’d be a clear way to treat it.

“But that relief turned quickly to complete devastation when we were called into a big meeting with expert consultants in neurology and genetics a short while later. We were told that TBCK was a spectrum which meant that symptoms like global developmental delay, hypotonia, respiratory issues and epilepsy could range from moderate to severe. Violet’s condition strongly suggested that she was on the severe end of the spectrum. James asked them straight if she was going to die and the answer we got back was devastating. But even then, I hung on to the hope that we’d still have her for long enough to make memories together.”

The next few weeks felt like a limbo while further tests were conducted in the hope of formulating a plan. Emily and James lived in a bubble with the rest of the world tuned out, but they took the moments of joy where they could – holding Violet’s hand and talking to her and watching her react and smile. They took comfort from the fact that the team around Violet had got to know her likes and dislikes. They also felt more secure in the knowledge that they were being listened to and their concerns taken seriously.

 

At one point, there were discussions around the possibility of a tracheostomy for Violet. Emily and James were told that it would involve a great deal of work and likely a year in hospital while the right care package was set up at home, but both agreed that it was a sacrifice they were more than willing to make to give Violet a chance.

Sadly, however, the respiratory team concluded that a tracheostomy was not a viable option. Violet’s conditions combined were too complex and though it may possibly keep her alive for a little longer, she would likely suffer more.

Emily says: “We spent hours with the respiratory consultant, processing the information and making sure that there were no other viable options. In a way we felt like we had a decision to make but we knew deep down that we didn’t. The possibility of inflicting more pain on Violet was not a choice we would ever make, even if it did mean more precious time.”

Knowing that Violet could not stay on the ventilator for much longer, James and Emily made the heartbreaking decision to spend their last days together at Ty Hafan. Before going, they talked to the Noah’s Ark team about things they wanted to do first like footprint and hand casts. But there was one other request that would take a bit more organising – a wedding.

 

Emily says: “James and I always said we would get married one day but it suddenly dawned on me that without all three of our children there, I didn’t think I ever could. So we decided we’d do it that week. It seemed impossible at the time but with the help of some incredible people, we did it.”

Emily and James got married in a registry office exactly a week later. Emily wore a dress and Noah’s Ark sparkle co-ordinator, Holly, was able to arrange hair, make-up and a photographer. In the afternoon, the family of five gathered around Violet’s cot to exchange their vows in a marriage blessing conducted by hospital chaplain, Caroline. The team on PCCU had made a crown for Violet and decorated her cot with fairy lights and flowers and the charity arranged a cake and food for their mini reception.

Emily says: “We had the most amazing day. It was so special to have all three of our children with us on our wedding day. It wasn’t a conventional wedding day but to have Violet there, witnessing our vows in her little dress, was exactly what we wanted it to be.
“We left Noah’s Ark for Ty Hafan eleven days later. In that moment I felt sad, not because of where we were going but because we were saying goodbye to people who we knew had grown to know and love her. I felt so grateful to them. It felt like they were giving her back to me.

“We had two weeks at Ty Hafan – much longer than any of us had expected. During that time we were able to cuddle Violet and sleep next to her and, though we knew ultimately that we were saying goodbye, we were able to enjoy her. I’ll always be thankful to the PCCU team for that. It wasn’t possible to make Violet better but they cared for her so well and for so long that she was as strong and comfortable as she could have been in those last few weeks. At the end, James had a long cuddle with Violet and then I had a final cwtch with her before she passed away in my arms. It felt absolutely fitting that Caroline, the same person who had blessed our wedding was there to lead the celebration of Violet’s life, and that some of Violet’s PCCU family were there too.

“Our daughter dealt with a great deal in her short little life. She had a quiet strength which meant she’d always let you know what she wanted but she was happy and easy-going too. You would never know how much she was struggling because she was always so content. We’re so proud of her.

 

“Violet opened our eyes to how much pain and suffering is in this world but she also showed us how much kindness still exists in this world too. It’s because of her strength and her bravery that we’ve been inspired to fundraise for the charities that have helped us so much. We want to tell her story and help other families not feel so alone. We miss her immeasurably but we are so grateful for the 11 months we had with her and will treasure that time forever.”