Antony, who is five years old, has nonketotic hyperglycinemia (NKH), which is a rare genetic disorder. This means he can’t walk or talk, and has seizures. Parents, Maria and Przemyslaw, tell his story.
Maria had a very healthy pregnancy, but as soon as Antony was born she knew something was wrong. She said: “He was very floppy and tired, and he didn’t wake up a lot. When we went to our two month check-up our GP was very concerned, and Antony was referred to a neurologist.
“One day, when he was three months old, he didn’t wake up at all. We rushed him to A&E and stayed in hospital for a month while we were waiting for a diagnosis. We were told he was having seizures, and eventually we were given the NKH diagnosis.
“After not knowing for so long, it was kind of a sense of relief finding out what it was, but it was devastating news. I was so angry; I kept looking for reasons to blame myself. I would see other mums and children out and about, taking their first steps or saying their first words, and I would feel this overwhelming sense of sadness and loss. What was the point of carrying on? At the time, I couldn’t think of anything positive.”
Maria and Przemyslaw were told that because there was no treatment they shouldn’t be too optimistic: most children with NKH have a short life expectancy. Maria said this has taught her to be open-minded and take each day as it comes: “It took a while to realise that Antony is who he is and we just have to accept that. Having a child with special needs is discovering what love is really about. You have to accept the fact that you can’t have expectations.”
Maria first heard about Bluebell Wood in 2013, after Antony caught pneumonia. She said, “At the time we thought we would lose him. He stopped being able to lift his head and move, and we decided to keep him at home while we looked for help. Our doctor referred us to Bluebell Wood, which was the best decision we’ve ever made.
“When we first visited we thought ‘do we really want to see that place?’ We thought there would be lots of poorly children, and we were really fearful. But once we visited, our opinion changed completely. It’s such a nice place – it feels like home. Everyone was friendly and positive, and we were confident leaving Antony there.”
Antony is always smiling and is very sociable, so Bluebell Wood is a great place for him to have fun while being cared for by our Care Team. He loves sensory stimulation, so playing in our sensory room and jacuzzi are the best parts of his visit.
One of Maria’s favourite things about Bluebell Wood is that she can go on holiday with her family, knowing that Antony is being well looked after at the hospice. Maria said, “It was very difficult the first time we left, we felt really guilty. But we realised how much we needed it. It’s important to recharge your batteries, and Antony doesn’t notice we’ve gone because he has such a good time.”
Bluebell Wood’s community nurses also visit Antony at home. This means Maria and Przemyslaw can spend time with their other children, Tadek, 7, and Vita, 2, knowing that the nurses are taking good care of Antony.
Maria said, “I don’t have to explain myself at Bluebell Wood – the staff know exactly what I am going through. If I have any concerns I can ring straight away and someone will come – you don’t have to rush to A&E. Bluebell Wood support us in lots of ways, both physically and emotionally. It really is a brilliant place.”