Georgie was 4 when she was diagnosed with acrodysostosis. At 1 years old she had an emergency adenoid tonsillectomy and many exploratory investigations trying to figure out what was wrong. By chance in2007 a visiting geneticist had recently seen another child with similar characteristic in Amsterdam and skeletally he told us Georgie had acrodysostosis. That was the first time we’d ever heard of Acro And that it was very rare with only about 70 others diagnosed in the whole world. So rare the specialist didn’t really know what to expect. Georgie was a contented happy, funny young girl who loved her visits to Great Ormond Street Children hospital, often up to 14 times a year to check on her growth and development. Her breathing at night was a problem from birth and she wore a CPAP mask at night. At about 8-10 years old we noticed her legs weren’t growing at the same rate. At 13 she had her first leg lengthening operation. At 14 another major operation to help improve her mobility. At 16 she was even braver and had a craniofacial operation which made her face more ‘normal’. Georgie is now 17, she is a kind and caring young adult who has often struggled mentally and physically with her condition, but it has made her the person she is today. Her experiences at GOSH and her enormous empathy have made her determined to go into medicine in order to ‘give back ‘and she is now studying hard for her A levels.
The lack of awareness about Georgie’s rare condition and how best to treat it has resulted in many years of uncertainty and avoidable distress.
With funding for proper research, other children and their families will be able to face the future with much greater knowledge, support and a range of treatments that should make a real difference to their quality of life.