We don't know how long we have but Dusty brings us such joy

Rosie and Billy Gunn talk about both the strains and pleasures of caring for a child with a rare genetic disease. And how charity Tree of Hope has supported them

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When Rosie and Billy Gunn discovered their third baby was "small for her dates" in the womb, they weren't overly concerned.

After all, they already had daughter Florrie, six, and son Billy Jnr, four, and neither had been big babies but developed normally.

Then a late pregnancy scan picked up something more serious.

"I went on my own because I thought it was just routine, but when they told me they thought something was wrong with the baby's brain I was hysterical when I rang Billy," explains Rosie. However it was to be many months after the birth of baby Dusty, now almost two, before the couple would get a proper diagnosis as to why their beloved daughter couldn't feed properly, suffered seizures, and wasn't developing as she should.

Misdiagnosis

Dusty has an ultra rare genetic condition, Stage 4 PDH1 deficiency, that prevents the body from converting food into usable energy. Instead, it builds up as lactic acid, slowly poisoning from within. It is believed only around 400 people worldwide are thought to be living with it.

Doctors where she was born at Broomfield Hospital in Chelmsford, and then at Southend Hospital where her feeding tube was fitted, had no idea what they were dealing with because there was a 17 million to one chance of it happening.

It took a year of misdiagnosis after she was born in September 2023 before Dusty, from Rayleigh, Essex, was referred to London's Great Ormond Street children's hospital, which had only dealt with two previous cases.