Mandy Hughes was nine weeks pregnant with her daughter, Polly, when she was told her baby might not survive. She and her husband went through dozens of tests before doctors discovered their baby had an enlarged heart. It was a devastating blow, but after the birth, it soon became clear that Polly’s challenges were just beginning.
“She dropped below her birth weight and wasn’t feeding properly or meeting milestones,” says Mandy, 42, who lives in Builth Wells, Wales. At four months old, Polly was referred for heart treatment, but her condition continued to deteriorate. It was two years before she was able to sit up by herself, and she was constantly unwell. “She was vomiting 24 hours a day – I don’t know how she survived,” says Mandy. “There were nights it was like she was drowning in her own sick – it was horrific. She could just about tolerate enough milk to survive but not enough to put on weight.”
As a toddler, Polly had an operation to prevent vomiting, but that caused other complications, including severe pain. “She is now one of a handful of children in Wales to receive jejunalfeeding, which goes directly into the small bowel because she can’t tolerate it into the stomach,” says Mandy. She has regular hospital visits for feeding, and requires 24/7 care from two adults. But, despite the severity of her condition and many rounds of genetic testing, a cause for her symptoms has never been found.
At six years old, Polly is one of approximately 6,000 children born in the UK each year with a Syndrome Without a Name (Swan). “One of the hardest things when you don’t have a diagnosis is that you don’t know what treatments might help and what the outlook might be,” says Mandy. “When we go for appointments we have to repeat everything to all the different people involved in Polly’s care and the number of different clinicians we have to see is overwhelming.”
For their family, hope is on the horizon after the opening of the new Swan clinic at University Hospital of Wales in Cardiff. Commissioned by the Welsh Health Specialised Services Committee and funded by the Welsh government, the clinic is the first of its kind in the UK, and has been introduced to improve care pathways for people living with rare, undiagnosed conditions. “We are waiting for our first appointment,” says Mandy. “We don’t know for sure if we will get any answers but at least this gives us some hope. Knowing what her condition is might affect the decisions I make about her care.”
The Swan clinic will initially run as a pilot for two years and aims to shorten the time patients wait for a diagnosis, as well as improving medical knowledge and research. The clinic’s launch has been supported by Swan UK, a charity support network established to help families who are struggling to manage undiagnosed and extremely rare conditions. Run by Genetic Alliance UK, it works with affected people directly, as well as offering education services to health and social care professionals.
According to Louise Fish, Genetic Alliance UK’s chief executive, about 50% of children undergoing genetic testing in the UK won’t get a confirmed diagnosis. “It could be because a condition is so rare that it has never been seen before and, therefore, isn’t tested for, or it could be an unusual presentation of a known condition,” she says.
Regardless of the reason, the ramifications for families are huge. As well as dealing with the emotional aspects of the uncertainty, a study by Rare Disease UK showed that 73% of people felt that a lack of diagnosis made it harder to access the right services, while four in five people found it difficult to access coordinated care.
For Hayley Clark, 38, a teaching assistant, and her husband Anthony, 45, a coach driver, from Newcastle, it has been a “constant battle” to get help for their undiagnosed eight-year-old son, Harrison, who lives with profound and complex needs, which include global developmental delay, visual impairment, brain shrinkage, and the inability to feel and process pain in the same way as other children. “I’ve had to fight to get certain equipment in the house, like a hoist to move him around as he’s not able to walk,” says Hayley.
While this family has had brilliant support from the local community and Swan UK, not all charities are able to offer support without a specific diagnosis. “There’s a lot of places we can’t go as a family, and I’ve felt guilty that my two older children have missed out too,” says Hayley. “But Harrison has made us appreciate life. We were thrown into this world of additional needs and learned to adapt. He’s extremely determined and loves his school.”
Last year, Harrison took part in the 100,000 Genomes Project, which investigates the role of genome sequencing in rare diseases. Initially, his family were hoping the tests could provide answers, but now they have mixed feelings about the potential results. “Harrison missed a lot of early milestones, but it took 10 months for me to be taken seriously,” says Hayley. “When a paediatrician finally told me there was something very wrong, I was Googling everything I could and we were referred for every test under the sun. But he is such a happy child, we’ve just accepted him as he is and we live in our bubble. If a diagnosis can help him then I want to know, but I’m also really scared of what they might say.”
Anthony feels the same way. “I don’t know how we’d cope if there is a diagnosis and we’re told it’s a life-limiting condition,” he says. “Watching other children grow and develop their independence sometimes brings a tear to my eye as I know Harrison will never have that, and I do worry what the future will bring. At the same time, I wouldn’t change him for the world because it’s what makes him him.”
In the UK, rare genetic diseases disproportionately affect children, with 30% of those affected dying before their fifth birthday. But, for some people, conditions can manifest or worsen later in life. Esta Watson, 26, from Yorkshire, suffered mild cognitive and physical disabilities through childhood due to an unknown genetic condition. When she was 16, her health rapidly declined, with symptoms including loss of bladder function, extreme fatigue, chronic pain, memory loss and recurrent infections.
After 17 years of investigations, she was finally told she had a rare genetic condition called Triple X. However, the diagnosis didn’t explain or fit with Esta’s new symptoms, and doctors suspected she has a second underlying condition. “She took part in the study to try to find the cause,” says her mother, Ruth, 53. “We were really hopeful about that but it returned no further results.”
The lack of understanding about her condition has taken its toll on Esta’s mental and physical health. “I get bounced all over the place between different services because nobody knows what’s wrong with me or what to do with me,” she says.
Esta now lives in her own flat with 24-hour support from her team of carers. But, without a name for her condition, she finds it hard to meet others in the same boat. She makes every effort to live as well as she can, and has joined a weekly exercise class for people with neurological conditions. “I did manage to get a place to study health and social care but I had to drop out. My bladder problems started around the same time and it was so embarrassing if my incontinence pads fell out of my bag.”
Too exhausted to study from home, Esta finds it difficult to take part in meaningful activities and is unable to work, which impacts her overall wellbeing. Ruth, 53, has also had to give up work as a support worker in education to care for her daughter. “Before I became really ill, we used to go on holidays and long walks,” says Esta. “As well as not knowing what’s wrong, I also feel as though I am grieving for my old life. It’s hard to look at Facebook and see people getting married and having families. I can barely walk around the house.”
Ruth believes the hardest aspect of her daughter’s condition is the lack of control over her future, and that of their family. “Fear is always in the back of your mind. We’ve almost lost Esta on several occasions and the uncertainty is really scary. We also don’t know if her sister is a carrier because we don’t know what it is. She’s healthy, but there’s a risk she passes something on to her children.”
As well as family planning challenges, Fish says many Swans and their families aren’t believed when they seek help. “Parents are labelled as neurotic by health and social care professionals, friends and even their own family members. It can have a detrimental impact, leading to them feeling frustrated, isolated and alone,” she says.
This has been the case for Laura Parkes, 33, from Northamptonshire, who has a nine-year-old son with a rare undiagnosed condition, as well as being ill herself. “Charlie was diagnosed with a brain anomaly during a scan in pregnancy and we were told he might never walk or talk,” she says. “He spent most of his early years in hospital, which had a huge impact on our family.” Although he had a wide range of complex symptoms, which included seizure-like episodes, breathing difficulties, low muscle tone and feeding issues, a cause couldn’t be found.
“I have a lot of residual trauma from that period because it felt like I wasn’t believed. I was made to feel as though it was my neurosis making Charlie ill, when in reality I was fighting for him. I felt guilty as well because I spent so much time in hospital and my relationship with my daughter suffered.” Eventually Charlie began to improve and met many key milestones, including walking, talking and attending school.
“He still has episodes where his blood pressure will drop dramatically and he just starts vomiting and collapses,” Laura says. “He also has sleep dysfunction and possible ADHD and autism. These have been hard to get assessments for, because, for a long time, doctors didn’t know if they were just symptoms of his genetic condition.”
As he got better, Laura was faced with her own health challenges. In 2018, her bladder stopped working after a gallstones operation. Since then she has developed numerous infections, bowel failure, hypermobility and vitamin malabsorption which causes brain fog and fatigue. Although she used to run a floral design business, she was forced to give it up when she became ill. “Like Charlie, I have been tested for everything but nobody can find any answers,” she says.
Her husband, Steve, 44, has taken a step back from work as a sports centre management consultant in order to spend more time caring for his family. “I tend to focus more on the symptoms and what needs to be done to help them both out,” he says. “But the diagnosis comes into play with services, and as much as you’re told a label doesn’t make a difference, our experience says it definitely does.”
Despite the challenges of living with such complex conditions, Laura says they have built new friendships and networks. “We have found our tribe through other parents in the same position as us. You also develop a dark sense of humour, too. It’s one of these things where it’s laugh or cry, and if I started crying I’m not sure I would stop.”
Whether someone is living with an undiagnosed condition or caring for a loved one, coping mechanisms are extremely important. “Caring for someone with complex needs is really challenging and lonely,” says Mandy. “I reached breaking point when I had to give up my job as a hairdresser. I’d lost so many friends because people didn’t know what to say to me.”
She began working with charities in Wales, including Credu, which supports carers, and it has given her a new lease of life. “We get amazing support from charities, so I feel incredibly privileged to work with them now.”
Mandy feels that disability and undiagnosed conditions are poorly understood, but she is proud to be making positive change happen. “Even with the most complex diseases, if you carry on reaching out, you will find a network to support you. It’s hard to describe how hard it is to people who aren’t affected. As a family, we don’t want expensive things. We just want a simple life where Polly can live as well as possible.”
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