‘Our hope is to visit the seaside’

As Christmas rapidly approaches, one South London mother from Sydenham has chosen to share her story about her seriously ill son Amadeusz, to encourage readers to make a festive donation to Rainbow Trust Children’s Charity, which provides vital support to her family

Anna Paszczynska’s four-year-old son Amadeusz was only the fifth person in the world to be diagnosed with a rare genetic mutation of epilepsy when he was just eight months old.

“We knew there was something wrong as soon as he was born,” recalls Anna. “Amadeusz was shaky and jittery and he started having seizures. After he was born we hardly left hospital for nine months and we were living by his bedside.”

Amadeusz was born in the summer of 2013 in Lewisham Hospital and then moved to the Evalina London Children’s Hospital, which is part of Guy’s and St Thomas’ NHS Foundation Trust in Waterloo.

It was when he was eight months old that Anna and Amadeusz’s dad, Lukasz Jakubiec, finally got a diagnosis: “We were in a cubicle and the neurologist came in and told us she had a diagnosis,” Anna said.

“She was very honest and said she didn’t want to give us false hope and explained that there was no cure for Amadeusz. As she spoke to us I could literally see the door closing on me.

“Up until then I still had hope that his illness would pass and go away.”

The family were told that Amadeusz had a genetic mutation of epilepsy called SCN8A (www.scn8a.net). The condition hadn’t been discovered until 2011 when epilepsy genes started to be commercially tested.

The condition is so rare there was only a handful of people known to have it in the world. Even today there are only 160 cases in the world and Amadeusz remains one of the most complex cases.

“For the first few days after he was diagnosed I had to stand back from him – I found it hard be close with him because everything had changed.

“But gradually I gathered myself up again and tried to learn as much as possible about his illness so I knew how to look after him as best I could.”

It was during a hospital stay two years ago they were introduced to Rainbow Trust, a national charity that
supports families who have a child with a life threatening or terminal illness.

Anna is supported by her family support worker Lyn Sweet who helps the family emotionally and practically at home, in hospital and in the community to make life a little easier.

“Although we have been living in the UK for 11 years, when Amadeusz was born everyone I knew was having children too and they were busy with their own lives. Suddenly I was left with no one.

“At first, Lyn started taking me to hospital but now it is much more than just driving. She sits in hospital appointments with me, offers support and advice and has even taken me to Ikea when I needed a break and some new furniture ideas.

“Lyn looks at things from a practical point of view and she has experience of what has helped other families with very ill children.

“Without Rainbow Trust life would be very tough. I would be forced to find other help or Lukasz would have to miss work when we need to visit the hospital.”

Amadeusz’s condition means that he is completely dependent on Anna for everything. As well as drug- resistant epilepsy he also has a muscle disorder –  he is unable to walk, sit up, hold his head unaided, talk or feed himself but Anna says Lyn understands him.

“He is a very sensitive boy – he is sensitive to other people’s emotions as well as to light and noise, and he’s sensitive to pain.

“He can have up to 80 seizures in 24 hours. He can get very agitated but he can also be very positive.

“We understand when he is happy – he can smile and interact. But he can get very shaky and vocalise when he is in pain.

“Travelling with him is challenging and we limit it to hospital appointments and school. Our hope is to take him to the seaside one day for a day trip.

“Lyn has a lovely relationship with him – she talks to him and sings to him and he just treats her like a member of the family.

“Lyn’s visits bring back some normality to my life and I can talk to her about anything – not just about Amadeusz and his illness.

“I treat Lyn like a friend but sometimes she is like a little angel.”

When serious illness affects a child, family life is turned upside down and time becomes more precious than ever. Help Rainbow Trust give families the greatest gift of all, time together this Christmas.

Visit rainbowtrust.org.uk/the-greatest-gift