RARE DISEASE
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BY RACHEL WILLIAMS
LIMB DIFFERENCE
RARE DISEASE:
LIMB DIFFERENCE The frustration of not knowing why your child is born without an arm or part of their limb is a challenge that appears to be offset by the remarkable achievements made by the children faced with the difficulty. That’s the consensus from one mother faced with the reality of dealing with the situation. And, one surgeon on the frontline assisting families navigate the challenge is confident that a new research program will paint a clearer picture of the disability. Limb difference is when a person has more or fewer than five fingers, fingers that will not bend or will not straighten, fingers that are joined together or bones in the hand or arm that are too short or missing. It’s a reality that seven-year-old Charlotte Lachs faces. Charlotte’s arm stops just below her left shoulder. Mum Narelle explains that she and husband, Shaun, found out at her 13 week scan about the difference.
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ISSUE 22
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SUMMER 2019
“She had a lot of tests for other problems including her heart but all tests came back as normal so the doctors were unsure as to why this had happened,” recalls Narelle, who is also mum to Liam (20), Max (14), Dylan (13) and Brodie (4).
“The doctors didn’t have any answers, so I think they just put it down to amniotic band syndrome. They think when I was pregnant early on, because I had a slight fluid leak, that it might have had something to do with it.
“At 28 weeks the doctors were still asking to do more tests but as all of the previous tests had come back fine, I opted to not do any more.
“I don’t think there are any answers we will get now – seeing as all her tests including genetic testing came back normal – so we just deal with what life has handed us and move forward.”
“A few days later I went into premature labour. Charlotte was born 11 weeks early at 29 weeks weighing a tiny one kilogram. She spent eight weeks in hospital before we were allowed to bring her home three weeks before her actual due date, weighing two kilograms. “She was amazingly healthy for being so premature. She didn’t need oxygen and thrived from the first day. “She has had two operations to shave the bone back in her arm because the rate it is growing is faster than the muscle and tissue around it. Both times the recovery has been fine but it will need to be an ongoing thing every few years when required.” Narelle says it was frustrating not knowing why it happened.
Not a lot is known about the causes and prevalence of limb differences. In Australia it is estimated that close to 2,500 children and young people live with a limb difference – some of which have congenital differences and others who need assistance post injury. It’s experts like Dr David McCombe who are on the front line to ensure children like Charlotte can reach their best potential under the circumstances. Dr McCombe is a Clinical Associate Professor at the University of Melbourne and works at the Plastic and Maxillofacial Surgery Department of the Royal Children’s Hospital and Plastic, Reconstructive and Hand Surgery Unit at St. Vincent’s Hospital.
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