Violet’s story

Symptoms

By 4 months old, it was evident that Violet had severe hypotonia (low muscle tone) and she also lost the ability to feed on her own so had to be tube fed. Violet was requiring numerous outpatient appointments for physio, occupational therapy, ophthalmology as well as general check ups.

Violet had 9 hospital stays all together, these were either related to respiratory or gastro issues. We knew there must have been a reason why she was requiring so much medical attention and why she had so many symptoms. I spent 8 months trying to find an answer but because genetic conditions can present so similarly, it was impossible to confirm what she had without testing.

Whilst we were awaiting another genetic test, in May 2023 Violet went into hospital for her tenth stay. During this time, she had a severe sleep apnea and was requiring more care than our local hospital could offer and so she ended up being transferred to intensive care. It was only here that we were able to have the whole exome sequencing (WINGS) test done and less than 2 weeks later, we had the results.

A diagnosis

Our Violet had TBCK syndrome and myself and my husband were the carriers of this faulty gene. There are only around 100 cases in the entire world, 11 in the UK and our Violet was the first in Wales to be diagnosed. TBCK gave Violet severe hypotonia and seizures, it impacted her vision, her airways, her larynx as well as issues.

I remember feeling relief to finally have an answer but I couldn’t wrap my head around my daughter having this condition that is so rare. Consultants were telling me they had never dealt with it in their 20+ year career. I tried to connect with other TBCK families, some diagnosed patients were able to stand and walk, some used a wheelchair. I didn’t know what the future looked like for Violet. We were told TBCK was a spectrum and Violet was presenting on the severe end, so we were told our daughter was never going to walk or talk. Devastatingly, we were also told that our Violet would have a shortened life but I clung on to the hope that we would get years and years with her.

Violet’s hypotonia was so extreme that whilst her brain was telling her to breathe, her body simply couldn’t expel enough CO2. After 6 weeks in intensive care, we were told there were no treatment options for Violet. There was no surgery, no miracle drug, nothing. These machines had been keeping her alive for 70 days but couldn’t stay there forever. We made memories and keepsakes with her, such as footprints and hand casts. We even planned our wedding within a week so that she could be there – we said our vows and exchanged rings at her bedside.

ICU

We moved from ICU to a children’s hospice. Violet coped much better than anyone expected, she was doing so well but by the second week her body was becoming tired and on the 24 August, she passed away in my arms aged 11 months old.

My husband and I have two older, healthy children so we know they didn’t inherit both bad copies of the gene but there is a chance that they inherited one of them. So we will have to have conversations with them when they are older for them to decide if they want to be tested. We know that there is a 25% chance that any children we have together would have TBCK, and we don’t qualify for IVF on the NHS, so this has ruled out the possibility for us to have any future children as we don’t want to risk another child having to fight the same battle Violet did.

Since Violet died, we have been telling her story to anyone that will listen. We’ve been fundraising and raising awareness of TBCK and rare conditions as a whole. Sometimes I struggle to believe that this is our story, that my little girl had something as rare as TBCK. My darling girl was so, so brave, she inspires me every day. It is so vitally important that these stories are told. I don’t want her life to be forgotten. She was here, she existed and she fought so hard to stay with us. For Violet and for every other person lost to a rare condition.