The ArchAngel MLD Trust is an unincorporated association governed by a constitution. Registered Charity Number 1157825. The Trust is run by volunteer charity trustees appointed to hold office for a fixed term of one year.
The Trust was founded in 2014 by the caring community in Ava's junior school, who wished to support Ava’s family in their desire to help others facing this rare and terminal illness.
Although the founding Trustees have since moved on to other projects, a new team of Trustees is dedicated to honouring and developing the highly valued foundation which they created.
Current Trustees are: Sophie Deveson, Emma Gallagher (Treasurer), James Kerr, Georgina Morton (Chair) and Rachael Wesson.
The name ArchAngel is inspired by the eight-metre statue of Archangel Raphael which towers over the San Raffaele hospital in Milan, where Ava received her treatment.
The Trust was set up to help people suffering from MLD in whatever way it can including making grants to charities and organisations engaged in MLD research, medical care and social care. There are a number of hospitals around the world involved in research and clinical trials to improve the outcomes of children diagnosed with the condition.
ArchAngel also awards private grants to individual families for specialist equipment, therapies and professional carers. Shortfalls in NHS budgets lead to equipment and therapy not being provided, or unacceptably long lead times of several months or years. ArchAngel has discreetly helped a number of UK families to purchase items including wheelchairs, bicycles, breathing apparatus and sensory toys; as well as blocks of much needed physiotherapy; home adaptations; and professional carers to provide long-term caregivers with respite.
ArchAngel is also currently spearheading a campaign to have MLD added to the UK’s Newborn Bloodspot (NBS) Screening Programme. This is a heel-prick blood test which is currently given to all babies at the age of 5 or 6 days old to test for a number of rare conditions. Whilst finding a cure for MLD is imperative, getting a timely diagnosis is equally as crucial. Catching cases at birth would unquestionably save lives. We are now actively raising funds for this campaign.
The team at ArchAngel are not qualified to give clinical or emotional support to suffering families, however we recommend the following organisations who can help deal with this type of issue:
Without early identification and treatment, children with rare diseases will lead a life of disability or may die. Early identification of babies at risk from rare diseases can ensure that they receive immediate life-saving or life enhancing treatment.
In the United Kingdom (UK) babies are screened via the heel-prick test (also known as the blood spot or Guthrie test) at 5 or 6 days old. A midwife visits the family home and takes a blood sample by making a small prick on the baby’s heel. The blood sample is then sent to a laboratory, where it is analysed or ‘screened’ for 9 rare disorders:
Owing to the rarity of Metachromatic Leukodystrophy (MLD), many children are misdiagnosed or diagnosed at a point where the disease has already progressed too far for treatment such as Gene Therapy to be of benefit. ArchAngel is dedicated to ensuring that Metachromatic Leukodystrophy (MLD) is added to the UK’s Newborn Bloodspot (NBS) Screening Programme to guarantee timely diagnosis.
Many countries in Europe and the US screen for considerably more diseases. Unfortunately, accepting new disorders onto the UK newborn screening programme remains a very lengthy process. The criteria and standards for screening are set and monitored by the National Screening Committee and Public Health England. Considerations and evidence required include:
Gathering the research required to demonstrate the above requirements is an expensive process, with many of the above stages costing tens of thousands of pounds. Owing to shortfalls in NHS funding, patient organisations are forced to commission elements including developing of test kits and an economic evaluation which are required as part of the application process. ArchAngel’s fundraising efforts will be focussed on specific stages of this process as and when required.
ArchAngel is currently working with a number of organisations world-wide to support developments in Newborn Screening for MLD. Any announcements on the progress of this project will be posted in the BLOG