A TEN-YEAR-OLD girl who has a genetic disorder so rare that just 100 people are thought to have it worldwide has helped to raise awareness of it through a Jeans for Genes charity event week.
Annie Mansell, of Wombwell, has tetrasomy X which only affects females and only 100 cases have been reported worldwide. The disorder is caused by having four copies of the X chromosome instead of two, and girls and women with this condition have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48 XXXX.
Signs and symptoms of the disorder include learning difficulties, speech difficulties, heart defects, distinctive facial features and dental abnormalities.
Annie and her family have spoken out this week to raise awareness of the disorder and the charities which support them.
Annie herself has various health problems, including a cleft palate (which has since been operated on), heart murmur, mobility and speech problems and she is around four years delayed in development.
She also uses a wheelchair because she can struggle with fatigue. Annie was born four weeks early, after a healthy pregnancy. The first signs that there was something wrong with her health came when she wouldn’t breastfeed. She was a couple of days old when a student doctor carrying out a paediatric check-up picked up that she had a cleft palate.
“At the hospital, all children with cleft palates were routinely tested for genetic disorders,” said Annie’s mum Rachel, 44.
“A nurse came over from Nottingham Hospital to do the genetic screening when Annie was just a few days old. Annie was also floppy, and her face looked different.
“Her eyes were close together and the bridge of her nose was wider at the top. She was tiny and in the first few weeks her weight dropped from 5lb 2oz to 4lb 8oz.”
When Annie was a month old, Rachel and husband Craig, 49, were called in for the results of genetic testing.
“The doctor ran through a list of facial features that Annie had, her bent little fingers, hypotonia (low muscle tone) and was floppy and she was a low weight.
She had ‘failure to thrive’, effectively not gaining any weight, and staying well below the percentiles she was expected to achieve on the charts. Her vision was affected, and her eyes weren’t tracking.
“The doctor then said she had 48XXXX chromosome disorder, also called tetrasomy X. It affects the heart, eyes, ears and cleft palate.
“He said each extra X chromosome reduces her IQ. She had a murmur in her heart, but we are told that this is ok and will continue to be fine without treatment.”
Rachel said she, her husband and Annie’s older sister Ruby, 13, have all been supported by The Sandcastle Trust. The trust supports families living with a diagnosis of a rare genetic condition to build lasting family memories and strengthen relationships.
The trust is a beneficiary of Jeans for Genes and provides accessible days out for children with genetic disorders and their families. Annie has enjoyed days out and a trip to meet Father Christmas and The Sandcastle Trust has also awarded her an annual pass to Yorkshire Wildlife Park.
Jeans for Genes took place this week and encouraged schools and workplaces to wear jeans for a day to raise funds and awareness of genetic disorders.
For more information, visit jeansforgenesday.org.
