Buzz had been a popular GP in Reefton for several years; he and practice partner, the late Julian James-Ashburner, were voted runners-up to New Zealander of the Year in 1998.
In 2002, it was time for a change. Buzz and the girls farewelled the West Coast, and headed to Paraburdoo in remote and rural outback Western Australia.
All three daughters blossomed in Paraburdoo, but Poppy didn’t grow. Her parents kept trying to work out what was happening to their little girl. They saw at least three paediatricians – one of whom carried out chromosomal studies to find everything was normal – and Poppy had an IQ test. Lauren, Buzz and Poppy
There were five parameters to the IQ test. “She was like a genius in four,” Buzz enthuses, though Lauren tempers this. “No, Buzz, not a genius.” Nevertheless, she performed admirably in most areas, but it was as if there was a hole in her head where she couldn’t do maths.
“We were really stuck,” Buzz says. “We knew something was wrong, but we didn’t know what it was.
“We had this bright, gorgeous wee thing, who couldn’t do maths.”
Poppy was a loving child, who doted on her sisters and her numerous pets. She would sit in the guinea pig cage for an hour or two at a time. Cats were like clothing, her lapdog Jellybean was like her child, Lauren says. Daisy (left) and Lily (right) with Poppy
“She was always proud that she was my PA and always went to answer the phone, before anybody else could. She was very cuddly, very original in thought, pleasantly quirky. She’d do things her own way.”
In 2005, the Boothman-Burrells returned to New Zealand for Lily and Daisy’s secondary schooling and settled in Blenheim. The older girls would brush Poppy’s hair for school.
Lily recalls noticing, as she brushed, that Poppy’s eyelid was drooping.
“I remember saying to her, ‘Poppy, stop it, stop making that face,’” she says. Poppy, by then aged eight, replied that she couldn’t do anything about it. Her parents also noticed the droopy eyelids, and a change in her gait.
By the time Buzz and Lauren found themselves before a paediatrician at Wairau Hospital a couple of years later, they were at their wits’ end. Lauren told the professor: “Please, do you know we have been doing this for years, what’s going on with our daughter?”
He sent them to a Nelson ophthalmologist, who made the diagnosis the moment he saw her. Poppy has a progressive neuro-degenerative disorder: Kearns–Sayre syndrome. It means she is missing a large portion of mitochondrial DNA.
Mitochondria are structures that use oxygen to convert the energy from food into a form cells can use. Buzz describes them as “batteries” or “powerhouses” of cells. Tests confirmed Poppy has a particularly large deletion.
Kearns–Sayre syndrome affects many parts of the body, especially the eyes. The features of the syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. All were obvious to the ophthalmologist.
Buzz and Lauren were barely able to take in all the new information, but were told Poppy’s future would bring deafness, blindness, diabetes, dementia and progressive muscle weakness over a number of years.
The condition features progressive external ophthalmoplegia, a weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis).
Affected individuals also have the eye condition pigmentary retinopathy, which results from breakdown of the light-sensing tissue at the back of the eye and gives a speckled and streaked appearance. Short stature is also a characteristic.
Kearns–Sayre syndrome is rare. The US National Institutes of Health estimates it affects 1 to 3 per 100,000 individuals.