Emma's story
Congenital hypothyroidism
Emma’s arrival was problem-free but, when she was just nine days old, mum Nicky received a call from Lewisham Hospital Paediatric Team asking to see her daughter as a matter of urgency.
“I cannot remember much about the actual call itself, other than that a doctor was telling me that my newborn daughter, most precious and tiny, was fundamentally unwell in some way,” says Nicky.
Newborn screening, sometimes known as the heel prick test, had identified a problem with the function of Emma’s thyroid gland. A scan showed that the gland was not in the usual position. Doctors prescribed thyroxine, which Emma now takes every day.
Had the heel prick test not been done, then I am unsure how long it would have been before the condition was picked up on, by which point Emma’s mental and physical development could well have been compromised."
For adults, this hormone is important in maintaining energy levels to allow everyday activity. But in children, and especially in babies, thyroxine has another vital function: it is essential for the normal growth and development of the brain and body.
If left untreated, the rare metabolic condition congenital hypothyroidism (CHT) can cause lifelong physical, developmental and learning disabilities.
A research project funded by Action in the 1970s led to routine screening of newborn babies for CHT. Now, early diagnosis and treatment means that children like Emma can be spared a life of disability.
Her current physical growth and mental development appears to be unimpaired. She is such a cheeky monkey with a smile that would melt the coldest heart.”
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