It is among the worst news a parent can hear – that your child has a genetic condition they will have to cope with for life.
But at Sheffield Children’s Hospital, a dedicated team of nurses and counsellors in the haematology department ensure that families aren’t alone as they come to terms with their little ones having conditions such as sickle cell anaemia, thalassaemia and haemophilia.
And patients and staff alike describe the unit feeling like a family affair, because of the close bond that develops between the NHS workers and the children they treat, who are often under the department’s care from being babies up to adulthood.
As well as the normal medical team, the haematology department includes an expert blood diseases counsellor, Sheila Daley, as well as specialists who act as an ongoing point of contact to affected families.
Deneka Dixon, from Arbourthorne, whose seven-year-old son Kealen has sickle cell anaemia, said: “We have a lot of contact with the hospital but we have only had to come in once this year.
“Kealen has got a shorter life expectancy. He can do exercise and sport but does have to sit out some of it.
“The staff are amazing with everything. When Kealen was born, we didn’t know where the sickle cell had come from.
“They came up straight away and went through everything with us.
“They have just been like a family to us. As soon as I have a problem, I’m straight on the phone.
“When we found out about the disease, it was upsetting. You just never know what is going to happen.”
She said she had taken part in a recent fundraiser for a children’s ward Kealen had stayed in after he was admitted over Christmas and had to spend several days in hospital.
“I just thank the staff for everything they do, they have given us such a strong support network,” she said.
“If it hadn’t been for them, I don’t know where I would be.
“You don’t fully appreciate someone until you are going through your worst times.”
Among the team in the department are Shaun Emmitt and Louise George, who are haematology nurse specialists who provide support and advice to families about their child’s condition and act as an ongoing point of contact.
Louise, who joined the children’s hospital in 1990, said the best part of her job was working with the children she helps.
She said: “I still see them as my babies. An awful lot of those children I have known since they were babies.
“One patient of mine is coming up to be transferred to adult services.
“We are like family friends.
“We are in a very privileged position. We are the constant contact – the nurses they see change, we are the constant. We are part of such a crucial stage in their lives.”
Around 80 patients with a blood disorder are registered with the hospital, coming from the whole of South Yorkshire, North Derbyshire and North Lincolnshire.
Most patients have sickle cell disease, which is caused by a faulty gene that affects how red blood cells develop, or thalassaemia, in which the body makes an abnormal form of haemoglobin, the protein in red blood cells that carries oxygen.
While children with sickle cell – an illness particularly common in people with an African or Caribbean family background – can normally manage their condition at home, it can cause episodes of severe pain lasting up to a week, as well as tiredness and shortness of breath.
Thalassaemia, which is passed down through families, largely of Asian, Chinese, Mediterranean, or African American backgrounds, results in large numbers of red blood cells being destroyed, leaving sufferers feeling weak, dizzy and tired.
Louise said the introduction of a nationwide screening programme for blood diseases in 2004 has made a massive difference to treatment.
She said: “Babies were presenting to us at six months, eight months, profoundly ill and then they would be diagnosed.
“Nowadays we might know before the baby is even born or when they are six or seven days old.
“The big change following the screening was awareness among the populations that were affected.
“In the past it was accepted babies could die but they didn’t know why. There was this kind of ‘not wanting to talk about it’ in the families.
“Nowadays, young people ask their families about it.”
One key part of the treatment for thalassaemia is regular blood transfusion sessions, which can take several hours.
Louise said the treatment allows sufferers to live a normal life but does result in an excess of iron in the blood, which then requires the patient to take tablets to prevent potential organ problems.
She said: “Transfusion is such a valuable thing to use in the NHS. It transforms their lives and enables them to have a normal life. Unfortunately the side effect is they have iron overload.
“Children with thalassaemia didn’t have a normal life expectancy prior to regular blood transfusion and iron management.
“They were dying before they got to 10 or 12, then it got to 20, now it is normal life expectancy if we keep their condition under control.”
Louise said a key part of her role is to ensure children and their parents understand the importance of taking their iron treatment to prevent serious medical problems developing later in life.
She said: “Us getting it right here is crucial.
“The transfusion isn’t a problem, they have been coming for years. They know us, they are part of the team, part of the family.”
Louise said she believes the hospital’s staff are having a positive impact in educating youngsters about how to manage their conditions and allowing them to live more healthy and fulfilling adult lives.
“We are having far more impact now, educating them in a far more proactive way.”