"Nobody knows what's wrong with me" - life with an undiagnosed disease
Mandy Hughes was nine weeks pregnant with her daughter, Polly, when she was told her baby might not survive. She and her husband underwent 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 fell below her weight of birth and not feeding properly or hitting milestones," says Mandy, 42, who lives in Builth Wells, Wales. At four months, Polly was referred for cardiac treatment, but her condition continued to improve. deteriorate. It took two years before she could sit up on her own and she was constantly sick. "She was throwing up 24 hours a day - I don't know how she survived,” Mandy says. “There were nights where she was drowning in her own disease - it was horrible. She could just about tolerate enough milk to survive, but not enough to gain weight."
En As a toddler, Polly underwent surgery to prevent vomiting, but it caused other complications, including severe pain. “She is now one of a handful of children in Wales to receive jejunal feed, which goes directly into the small intestine because she cannot tolerate it in the stomach,” says Mandy. She visits the hospital regularly for food and requires 24/7 care from two adults. But, despite the severity of her condition and numerous rounds of genetic testing, the cause of her symptoms was never found.
At six years old, Polly is one of around 6,000 children born in the UK each year with Down syndrome without Name (Swan). "One of the hardest things when you don't have a diagnosis is you don't know what treatments might help you and what the outlook might be," Mandy says. "When we go to 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 the University Hospital of Wales in Cardiff. Commissioned by the Welsh Health Specialized Services Committee and funded by the Welsh Government, the clinic is the first of its kind in the UK and was introduced to improve care pathways for people living with rare and undiagnosed conditions. "We're expecting our first date," Mandy said. “We don't know for sure if we'll get any answers, but at least it gives us some hope. Knowing what his condition is could affect the decisions I make about his care. for a diagnosis, as well as the improvement of medical knowledge and research. The launch of the clinic was supported by Swan UK, a charity support network set up to help families struggling to manage undiagnosed and extremely rare diseases...
Mandy Hughes was nine weeks pregnant with her daughter, Polly, when she was told her baby might not survive. She and her husband underwent 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 fell below her weight of birth and not feeding properly or hitting milestones," says Mandy, 42, who lives in Builth Wells, Wales. At four months, Polly was referred for cardiac treatment, but her condition continued to improve. deteriorate. It took two years before she could sit up on her own and she was constantly sick. "She was throwing up 24 hours a day - I don't know how she survived,” Mandy says. “There were nights where she was drowning in her own disease - it was horrible. She could just about tolerate enough milk to survive, but not enough to gain weight."
En As a toddler, Polly underwent surgery to prevent vomiting, but it caused other complications, including severe pain. “She is now one of a handful of children in Wales to receive jejunal feed, which goes directly into the small intestine because she cannot tolerate it in the stomach,” says Mandy. She visits the hospital regularly for food and requires 24/7 care from two adults. But, despite the severity of her condition and numerous rounds of genetic testing, the cause of her symptoms was never found.
At six years old, Polly is one of around 6,000 children born in the UK each year with Down syndrome without Name (Swan). "One of the hardest things when you don't have a diagnosis is you don't know what treatments might help you and what the outlook might be," Mandy says. "When we go to 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 the University Hospital of Wales in Cardiff. Commissioned by the Welsh Health Specialized Services Committee and funded by the Welsh Government, the clinic is the first of its kind in the UK and was introduced to improve care pathways for people living with rare and undiagnosed conditions. "We're expecting our first date," Mandy said. “We don't know for sure if we'll get any answers, but at least it gives us some hope. Knowing what his condition is could affect the decisions I make about his care. for a diagnosis, as well as the improvement of medical knowledge and research. The launch of the clinic was supported by Swan UK, a charity support network set up to help families struggling to manage undiagnosed and extremely rare diseases...
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