Real-life Special: A Rare Disorder

This season we meet two families whose baby daughters have undergone treatment for two very different conditions.

When you discover that something is wrong with your precious newborn baby, it can come as a terrible shock. New mum, Maggie Hine, was devastated to discover that her first-born daughter, Evie, had hip dysplasia – and even more distressed to discover that she would have to spend several months in a body cast.

Evie’s hip problem was discovered early, but for the Robinson family, it was a battle to get their baby daughter diagnosed at all. As experienced parents, they knew that something was wrong, but

Reagan’s blood disorder is so rare that it took doctors almost a year to work out exactly what the problem was.

Happily, both girls are currently doing well, and, though they’ve been through some tough times, both families are optimistic for the future. Both families are also very grateful for the way that they’ve been supported by their families and friends, and also by STEPS and DBA UK – organisations that have been set up to help people affected by their respective conditions.

Reagan was Sam and Alex Robinson’s fifth child – so, being an experienced mum, Sam knew pretty quickly that something wasn’t quite right. “Reagan didn’t gain weight – she had never fed well and, having breast fed four other babies, I was fairly confident in my knowledge, and my ability to feed them.

By three months Reagan weighed less than a pound more than she had when she was born. She had been referred to various doctors, and had been labelled as failing to thrive, but it was several further months before anyone was able to diagnose exactly what was wrong with her. “It was a rollercoaster,” says Sam. “At six months Frimley Park Hospital passed her care over to St George’s Tooting, because they’d exhausted their expertise and couldn’t work out what was wrong. Though, Reagan’s paediatrician at Frimley had mentioned that DBA was a possibility.”

DBA (Diamond Blackfan Anaemia) is a rare blood disorder in which the bone marrow of the patient fails to produce red blood cells. The condition can cause fatigue, poor growth, and a lack of appetite. Reagan was nearly a year when she was finally given a firm diagnosis – by which time her parents were fully prepared for the verdict. “It wasn’t a shock for us. Unlike most DBA diagnoses, we were ready for it – we were just asking them to please get on and officially diagnose.”

Because of the DBA, Reagan’s development had been seriously delayed. “At eleven months she was still like a newborn,” says Sam. “Her head still sank into her neck when we picked her up, and she only weighed around 13lb. It was awful to look at our nearly one year old, and see a baby the size of the average three month old.”

To counter the lack of red blood cells in her body, Reagan had to be given blood transfusions every few weeks. “We had to sit by and watch her suffer a little more each day, until they decided that it was time to transfuse her.”

In addition to her failure to grow, Reagan was also susceptible to chest infections which would often turn into pneumonia. With four other children to look after, it was a challenging time for Sam and Alex. “We had to spend so much time attending appointments in London hospitals and having transfusions. Our older children had to be taken care of too, and it was never easy, but we have had the most amazing support. All my friends know all about Reagan, and they have bent over backwards to do what they can to help us. Our family has been invaluable, too. We are so grateful to all of them – we would simply have fallen apart without them.”

In total, Reagan was given eighteen blood transfusions, until, just before her second birthday, when the doctors decided to try giving her steroids instead. In a high enough dose, steroids can stimulate the bone marrow to produce red blood cells, and although they can have serious side effects, they are less damaging to the body than blood transfusions. Reagan was started on a high dose of steroids, which was gradually reduced to a safer dose over the following eighteen months.

The steroids marked a turning point for Reagan. “She gained weight rapidly, she grew tall – she ate food!” says Sam. “Her health improved, and we no longer panicked every time she got a common cold. She really came into her own and blossomed.”

Reagan was given physiotherapy to build up her physical strength, and portage – pre-school education at home – to help her reach other developmental milestones. Since then, Reagan’s condition has improved greatly, but she will continue to need treatment for her condition in the long term. In addition to the steroids, she has preventative antibiotics to counter the risk of pneumonia, regular courses of vitamin D, and also melantonin to help her sleep. Her bone marrow has to be monitored for the production of red blood cells, and her liver must be checked for iron levels – so she has to have a bone marrow and liver biopsy every eighteen months. She also has regular MRI scans.

Though she has been through so much more than the average four year old, Reagan has surprised her parents throughout with her stoicism. “She’s always been such a happy child,” says Sam, “and so incredibly brave. She doesn’t flinch when she has a blood test, and she once had to endure eleven attempts to get a cannula into her for a transfusion – that’s nothing short of torture! She has huge character – she’s super cheeky; and she’s taught us so much – patience, gratitude, appreciation, and acceptance.”

At four years old, Reagan is currently fit and healthy. Her parents are hopeful for the future, but they are also aware of potential problems that could lie ahead. “It’s a bit of a crystal ball thing,” says Sam. “Theoretically, she should lead a full and normal life, but the steroids are not a guarantee. We are reminded all too often of how cruel DBA can be when we hear of others having a terrible time, so we don’t take her health for granted. She could stop responding to the steroids at any point, and then she would have to go back to transfusions. She could ultimately need a bone marrow transplant. We don’t know how DBA might affect her during puberty, and we don’t know which, if any, of the possible nasty side effects she might suffer from long term steroid dependency.”

Having a child with DBA is a long-term journey, and Sam and Alex have found necessary support from other people who have children with the condition – people who they’ve met through the charity DBA UK. “DBA is very rare, so it can be hugely isolating and incredibly daunting,” says Sam. “I was so relieved when I found others who were going through the same things as us. The families we’ve met through DBA UK have been invaluable to us, and the Facebook pages are fantastic.”