One fall could be a killer for Loeys-Dietz syndrome sufferer Isabella
MOST parents worry about their children getting injured – but terrifyingly for this little girl's parents, a fall could actually kill her.
Her devoted parents fear for her safety each day but are now trying to raise awareness of their daughter's life-threatening condition and aim to take her to America to see one of the discoverers of the disease.
Three-year-old Isabella Smith – or Chimpy as she is affectionately known to family – was diagnosed with Loeys-Dietz syndrome (LDS), in December, a connective tissue disorder characterised by aneurysms throughout the arteries.
Between 300 and 500 people around the world have been diagnosed with it, although the number is increasing with awareness.
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Isabella has aneurysms or swelling of the artery wall in her aorta, the main artery in the body. Her mum Alexa Crowther, 29, and dad Ashley Smith, 31, of Immingham, are waiting on a date for a full body MRI scan at Sheffield Children's Hospital, to see if there are any more.
Her condition makes Isabella very fragile and any fall could result in broken bones, or terrifyingly, even death.
If she suffers a hard fall, or experiences a heavy impact of some kind, it could lead to hernias, or more seriously, her aorta rupturing, causing sudden death.
Alexa and Ashley are concerned about the lack of knowledge medics in the UK have about LDS syndrome.
Alexa said: "The condition was discovered in America in 2005 by Dr Hal Dietz and Dr Bart Loeys. Our aim now is to get Isabella out to America so that Dr Dietz can examine her, and give us much clearer information.
"There was something different about Isabella from the moment she was born. She had a cleft palette which required corrective surgery at the age of 14 months, she has a concave chest, a slight heart murmur, flat feet and hypermobility in all of her joints.
"Since we can remember she has been in and out of hospital with regular chest infections.
"Isabella is currently under a pediatrician at Grimsby's Diana, Princess Of Wales Hospital and a genetics team at Sheffield Children's Hospital.
"She has been put on high medical alert and will soon be wearing an alert bracelet."
The only treatment for Loeys-Dietz syndrome to prolong life expectancy is surgical repair of the aortic aneurysm.
"We are in the process of setting up a private donations account called Chimpy's LDS Cause, and have planned various events to start fundraising – money will be used to fund Isabella's future care either in England or America."
The next fundraising event is a car boot sale outside Immingham Leisure Centre, on Sunday, February 24, from 9.30am to noon. Tables are £5, which will go towards the cause – any proceeds made from sales will go to the stallholder.
Alexa said: "We hope in the future that any surplus funds we raise can be donated to the Loeys-Dietz Syndrome Foundation in America and Canada so more research can be done."
To find out more about Isabella and to book a table for the February car boot sale, visit www.facebook.com and search for chimpys LDS cause.
For more information about Loeys-Dietz Syndrome, visit www.loeysdietz.org