It was at Stacey’s 20 week scan when doctors said her unborn child could be born with a twisted spine. Stacey was referred to Oxford Children’s Hospital where further scans were carried out at 26 and 28 weeks but doctors said they couldn’t see any further abnormalities.
When Imogen was born, her spine wasn’t checked and it wasn’t until many months later when an X-ray was taken it was revealed that she did have a twisted spine. Stacey also noticed that Imogen wasn’t growing like other children her age and was having problems with feeding. Tests also revealed that Imogen had Scoliosis and a heart murmur. The family were referred to Oxford for genetic testing and Imogen, who was then 2 and a half, was diagnosed with Myhre syndrome.
Myhre syndrome is an incredibly rare genetic condition, so rare that when Imogen was diagnosed she was the only child in the UK who had this condition and only the 34th in the world. There are currently only 50-55 recorded cases globally and heartbreakingly over 10% of these children have already passed away. The condition affects many systems and functions of a child’s body including skeletal abnormalities, heart disease, developmental delays in language and motor skills along with a wide spectrum of other disabilities.
One of the symptoms of Myhre syndrome is the restriction of the heart’s functions. Imogen, now 5, does experience heart problems which means she tires more easily than her friends, normal activities such as playing on the trampoline can be very tiring for her. Despite this, Imogen is very determined and is already attending a mainstream school which she loves and has a great group of friends who enjoy looking after her. As a result of Myhre syndrome, Imogen experiences delayed learning but at the moment it isn’t causing significant problems for her.
During the day Imogen has to wear a special Dynamic Movement Suit and leg splints, the suit has been designed to ensure her spine is kept supported and aligned. Imogen also has to wear glasses and hearing aids, which she has now re-named as her Hearrings! Imogen is a very girly girl and loves dressing up and Disney Princesses! She also loves being outside, playing in the park or feeding the ducks with her family.
This year Myhre Syndrome UK is a Jeans for Genes Day grant charity. They will receive a grant raised by you overdoing it in denim on Jeans for Genes Day and will be used to set up the first UK patient group dedicated to supporting families and children affected by Myhre syndrome.
Thank you so much to everyone who have paid their donations in. If you are yet to do so, please visit our website for more information on how you can donate. It has never been more important to help children like Imogen so please donate and help us to continue to provide these charities the vital grants they so desperately need. Thank you.