Dominic’s story

Five-year-old Dominic has Ohtahara Syndrome, a rare genetic disorder which causes epilepsy. Dominic has complex needs: He is not able to move independently and can’t hold his head up. He can’t talk or communicate. He has an unsafe swallow and is ‘peg fed’ which means he receives nutrition through a tube in his abdomen. He has severe visual impairment and he has a catheter fitted. Many children with Dominic’s condition do not reach their tenth birthday.

It was when Maria Podolean’s first child Dominic was just ten days old that the new mum first noticed her baby was making ‘strange movements’. These jerking and jolting movements, she was later to discover, were seizures due to a rare genetic disorder.

Her GP wasn’t concerned when Maria described the events, but then she managed to film Dominic during an episode to show to her health visitor. Her health visitor said they looked like seizures and sent him straight to hospital.

Dominic was admitted first to the Royal Berkshire Hospital, near their home in Wokingham, before transferring to Oxford’s John Radcliffe Hospital, whilst doctors tried a range of medication to stabilise his seizures.

Maria, 28, says: “Dominic was having over 200 seizures a day. Doctors would try one medication, but it would only work for 24 hours and then stop working. He was in hospital for three months.

“When we got the diagnosis, we were put in a separate room and given an interpreter – I’m Romanian and my husband Vitali is Russian, and we didn’t speak English that well at the time. We were told that genetic tests showed Dominic has Ohtahara syndrome with a mutation of the KCNT1 gene. We were told he is very different and will need help all his life. I didn’t want to believe it. I wanted to make him better. From that stage we started to learn about this disease and how to take care of Dominic.”

Ohtahara syndrome is a rare epilepsy syndrome seen in infants, with seizures usually starting before three months of age. It is also known as early infantile epileptic encephalopathy (EIEE). Ohtahara syndrome affects both boys and girls. It can be caused by genetic mutations and around 15 mutated genes that affect brain development and function have been linked to the condition.

Once home from hospital, Maria, who is studying to become an Occupational Therapist, and factory worker Vitali, 35, found the adjustment difficult.

“I stopped breastfeeding because he couldn’t feed well,” Maria explains. “At home it was a pressure on us. We couldn’t get outside for a walk because I felt everyone was looking at us. By seven months he looked a bit different. His eyes looked different. We avoided going out with him. Our friends stopped asking about him.

“We started to get help from medical staff and professionals such as teachers for children with impaired vision. Slowly we accepted our situation and our life.”

Dominic has very complex health needs.

Maria explains:  “Recently Dominic’s breathing has deteriorated a lot. Last year he had a very severe chest infection and was in hospital. The biggest worry we have is that he’ll stop breathing in his sleep. I always wake up in the night worrying. In hospital we were told kids don’t survive past 10 years old. We cannot say what will happen.”

Dominic is now five years old and the couple have since had a daughter, Emmy, two, who is healthy.

“Dominic likes listening to music. He likes massage. He likes to be outside and have lots of noise around him. He likes to go for walks and go to the park. He loves to be with his sister Emmy. She is so good with him. She kisses him, she takes him his toys and iPad.”