But at 36 weeks, he still wasn’t moving a muscle. I went into hospital for a scan and ended up having an emergency c-section. Drae was breach, had the cord around his neck and as soon as he was born needed chest compressions.
He was badly jaundiced at first, but his observations and hearing were fine, so the hospital discharged us. But, I continued to have this nagging feeling - call it mother’s intuition - that something was wrong.
His eyes would judder uncontrollably, he would arch his back as if in pain and at six weeks seemed to have completely forgotten how to suck on his bottle. He was gaining weight, but his head was growing disproportionately to the rest of his body. Then at 12 weeks old he still wasn’t smiling or holding his head up.
Our health visitor agreed he should be checked and after lots of testing, including genetic tests and MRI scans, we eventually had a diagnosis - TBCK syndrome - an incredibly rare and complex neurogenetic disorder.
We came home from hospital having heard Drae’s diagnosis shell-shocked; our 12-week-old baby boy was on a feeding machine and having his breathing constantly monitored, while we tried to take on board the implications of his condition.
We found out that children who are diagnosed with TBCK have developmental delay ranging from moderate to severe, with symptoms ranging from difficulties swallowing, low muscle tone, seizures and weakness. It’s a life-limiting condition with the eldest known patient surviving to just 22 years old.
Drae can’t roll, sit on his bottom, hold his head up and the back of his skull appears flattened. He’s at risk of choking and needs someone with him to monitor and observe him 24 hours a day and re-position him for his own comfort throughout the night, every night. His syndrome also causes severe epilepsy.
We were really struggling to cope as a family – until one day a nurse asked if we’d heard about Julia’s House.
From the very first time we visited, I knew Drae would be comfortable here. The staff make sure he enjoys lots of sensory play with medical care and supervision – exploring different textures and feeling paint squish between his toes as he makes footprints. There’s the sensory and music room and a beautifully designed garden as well as the most amazing bath with bubbles, little power jets, music and lights.
Either at home or in the hospice, Drae gets so much attention and I know he’s safe. He’s well cared for by a medically trained team – who know what to do if he’s uncomfortable or if he started choking.
When Drae is in a care session I’ll either get some sleep or take my girls for their riding lesson. I love watching them and they don’t get much time with me, one on one, so that’s a really lovely thing to do. It’s the simple day-to-day things that make the world of difference. For instance, my children love biking, and so the family support team at Julia’s House are helping us research the right disability trailer for Drae to be able to join us on our rides.
It’s very isolating living with Drae’s condition as a family, so we like that at Julia’s House there are events and opportunities to meet other families in similar circumstances - go-karting for the dads and pamper sessions for the mums. There’s even popcorn and movie nights for the siblings where Drae’s sisters can make friends with other children living in a household with a child with a disability.
Julia’s House is for the whole family so we can make as many memories as we can together and can meet other families in similar circumstances. We understand what each other are going through. It’s not like meeting and chatting with mums at the school gate, our problems and experiences are a world apart.
And when end of life comes, there are all these beautiful rooms, so we can stay together as a family. It means so much to know that we can be together, supported and in a loving environment with skilled nurses and carers around us.
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Julia's House has a CQC 'Outstanding' rating (Feb 2023), ranking us in the top quartile of all hospices in the UK. Click here to read the report.
