Alan and Charlotte Lloyd were delighted when Sophie was born in July 2017, but it was only four months afterwards when she started having seizures.
Over the following 18 months, their lives were turned upside down as Sophie was in and out of hospital and at the last count she has spent over 100 nights in QMC. She was diagnosed with West Syndrome / Infantile Spasms shortly before her 1st birthday and eventually genetic testing was carried out.
Sophie has followed in her brother, Edward’s footsteps and attends Ryan House Day Nursery on Loughborough Road, but she is still not showing any real signs of development and at the age of three is unable to sit unaided, crawl or talk.
About six months ago, the family finally received the results showed that Sophie has an extremely rare recessive mutation of the WWOX gene which has a severe impact on brain development. “Although devastating news for us all, this at least gave us a reason behind her condition and made us aware of the WWOX Foundation” said mum, Charlotte.
The WWOX Foundation is based in Australia and was formed by a group of parents with children affected by this devastating disease. It is the aim of the WWOX Foundation to raise awareness of the syndromes resulting from mutations of the WWOX gene and to provide clear and easy to understand information to newly diagnosed WWOX parents. “We have found this support so valuable in coming to terms with Sophie’s condition” Charlotte continues.
It is the also aim of the WWOX Foundation to fund, promote and support medical research dedicated to developing effective treatments and ultimately curing WWOX related syndromes, and it is this that has given this family this much needed hope. Research is taking place into gene therapy that could cure this devastating condition and allow affected children to potentially develop and have a much higher quality of life. However, to bring the research to clinical trials, they need to raise 300,000 Australian Dollars (around £165,000). This disease is very rare and only affects 56 (known) children worldwide, including Sophie & 6 others in the UK. Charlotte is part of the fundraising committee that launched the appeal worldwide on 1st October and they have already raised $60,000. These donations are critical for completing the research and are especially important as funding has become very difficult because of the global pandemic. If you are able to donate even a small amount, you will be supporting ground-breaking laboratory research to create a pathway towards a clinical trial.