A diagnosis of A-T comes as a huge shock as there are no indicators at birth. Health progressively deteriorates causing an overall loss of coordination and muscle control. Children are usually confined to a wheelchair by the second decade of life (around the age of 10) and will need assistance with everyday tasks.
Children often lose their ability to write, speech becomes slower or slurred and reading becomes problematic due to difficulty in eye movement control. A-T does not affect the mind. There are no learning difficulties linked to having A-T, and affected children and adults are neither intellectually nor socially impaired.
A-T patients are also predisposed to developing cancer and their immune system is weakened. Thus, many of them are susceptible to recurring respiratory infections. Life span is shortened, usually by respiratory failure or cancer with those affected generally living until their twenties. There is currently no cure for A-T and no treatments to slow down or stop the progression of this devastating disease.
For many people living with a rare condition such as A-T, sustainable, high quality medical research offers hope for the future. Hope that there will be something that will change the difficulties they face in every day life. Hope that the prognosis may be improved, and hope that increased interest in A-T will lead to greater understanding of not only this disease but others too.
Action for A-T was established in 2012 by parents whose daughter was diagnosed with a rare life limiting neurological condition named Ataxia Telangiectasia (A-T).
Our mission is simple, we aim to speed up the process of identifying a cure for A-T or treatments that delay or prevent the disabling effects of this devastating childhood condition. We do this by supporting families, doctors and researchers by funding high quality medical research.
Since 2012 we have invested over £3.1 million in 40 A-T related research projects globally and actively seek collaborations with the research community and like minded charities to increase our investment and maximise our impact. The charity has its own highly qualified multi-disciplinary medical advisory and peer review panel and a grant management process which has led us to achieving a best practice award from the national Association of Medical Research Charities.
We also provide much needed support to the families living with A-T as there is currently no treatment or cure for the condition. 1 in 3 children with A-T will develop cancer or respiratory disorders at some stage in their short lives and more than half will not live beyond their teens. People with A-T are included within the 1.5 million people considered by the NHS to be at very high risk of severe illness from corona virus (COVID-19) and the advice for everyone with the condition, is to undertake a rigorous protection regime known as “shielding”. The outlook is horrifying for these families as many will lose loved ones to the virus before the crisis is over.
Children and young people with A-T have a greatly increased risk of cancer compared to those without A-T. In younger children, lymphoid cancers dominate but non-lymphoid tumours such as brain and pancreatic cancer also occur. These are often found in children as young as 3 years, and the median age for cancer diagnosis is 12.5 years.
At present, there are no guidelines on how children and young people with A-T should be screened for cancer. Scans that use x-rays, like CT scans, can be particularly harmful in people with A-T so the current practice at the UK Paediatric A-T clinic is to perform blood tests. These tests are able to detect most types of leukaemia but not effective at detecting solid tumours. As highlighted in a recent international consensus statement, "effective cancer surveillance strategies for A-T patients are urgently required".
Jenni was diagnosed with cancer (Non-Hodgkinson’s Lymphoma of the Liver), in August 2015. She had horrible side-effects as a result of her chemotherapy treatment and had to be fitted with a gastronomy tube as she could not keep food down. She passed away aged 12 on 7th January 2016.
Jenni’s mother Clare says “When we saw her little body laying there, we saw then, the “true face” of A-T, and we are more determined than ever that other families should never have to go through what we did. A-T is a merciless and cruel condition that devastates both the sufferers, their family and friends. Effective treatments and eventually a cure must be found.”
Professor Dineen and his team at the Queens Medical Centre will carry out a feasibility study of cancer surveillance using modified blood tests and whole body MRI. They will recruit 20 participants with A-T who along with their parents and carers, will be invited to participate in workshops and focus groups to fully understand the impact of the tests and any findings.
The team will use advanced MRI scanning techniques to search for signs of cancer and to establish the technical feasibility of whole-body MRI. They will also carry out radiological analysis of the spectrum of findings taking appropriate action where needed. Each participant will undergo one 30 minute scan costing £450 each. A Band 7 NHS Research Radiographer, Band 7 NHS Paediatric nurse and health psychologist research assistant will also be appointed to coordinate the various elements of the study.
The MRI scans have the potential to show unexpected but significant findings, particularly cancers. In view of this all MRI scans will be reported by a fully qualified paediatric radiologist and brain images will additionally be reported by a fully qualified paediatric neuro-radiologist.
This feasibility study will equip the research team with the vital information needed to develop a larger trial to test whether cancer surveillance using whole body MRI scanning and blood tests is effective in children and young people with A-T.
“Advancements in MRI technology allows whole-body imaging optimised for cancer detection with short acquisition times and may provide a safe method for cancer surveillance in children and young people with A-T".
Dr Rob Dineen, University of Nottingham
The proposed cancer surveillance programme could provide an effective way to identify the cancers in children and young people earlier, allowing earlier referral to the specialist centres for potential life saving treatments. Because A-T is such a rare disease, and because a trial of cancer surveillance would be very difficult for other groups to deliver, it is highly likely that any guidelines developed from this UK-led trial would be adopted in many other countries.
This 24 month project will begin at the end of 2020 and has a total cost of £97,199. We have already secured £40,000 from a generous benefactor, and are now seeking further donations to cover the remaining costs.
Please help us reach our target of £4,500 as this will cover the cost of 10 scans for the children taking part in this vital and potentially life changing project.