Parents Anne and David Stanford were left broken-hearted in 2009 when they discovered that their son, Ryan, had a progressive condition called Alpers’ Syndrome, a severe genetic disorder involving mitochondria (the batteries present in our body) which causes liver and brain disease. Ryan suffers with severe epilepsy, delayed development, weakness and liver failure and there is neither a cure nor an effective way to slow the decline.
The diagnosis changed everything for the family and they have come to terms with the medical view that there is nothing that can now be done for Ryan except for making him comfortable as the disease progresses. Whilst caring for Ryan, Anne and David have established the Ryan Stanford Appeal to raise funds to support a PhD student at Newcastle who is taking forward the basic science that will hopefully enable researchers to develop treatment for this rare, but devastating disease.
They commented: "We believe that there is a chance of giving children like Ryan a brighter future and research conducted at Newcastle gives us the greatest hope."
Professor Doug Turnbull, Newcastle University, said: "We know that many families who are afflicted by these genetic disorders of mitochondria* look to us for hope in finding a treatment. Currently there are no quick fixes, but the Newcastle team is working very hard to find solutions that will make a major difference to the lives of these families."
"Through our research on mitochondrial diseases we have revealed how these diseases have blighted some families for generations and we have worked hard to lobby the Government to approve a new IVF technique that can stop these diseases passing through generations. We also believe that our research is essential to develop technologies that will help us tackle a range of brain disorders associated with ageing, such as Parkinson’s Disease, where mitochondria are known to be faulty."
"To do this, we need investment in our research team so that within the next few years we will be able to make a real difference to the lives of patients and their families."
*Mitochondria are the batteries present in every cell in the body. They provide essential energy that allows the cells, tissues and ultimately the body, to work properly.
Find out more about the work of the Stanford family and its support for our mitochondrial research team.