Aplastic anaemia is a rare and serious bone marrow failure disorder that can be fatal. The Aplastic Anaemia Trust is the only organisation in the UK, in existence for over 30 years, dedicated to raising funds to enable research and providing much-needed emotional and practical support to patients and their loved ones. Leena O’Hara, from the Aplastic Anaemia Trust, helps us take a closer look at this rare illness, the impact it has on young people, and how a programme she leads on is striving to make a difference.
What is Aplastic Anaemia?
In most cases, aplastic anaemia is an auto-immune disorder, where the immune system attacks the stem cells. These stem cells are the ‘queen bee’ cells within the bone marrow, making all the different types of blood cells. This results in a deficiency of the blood-making cells and the consequent downstream effects of low blood counts, in all the cell types.
In aplastic anaemia, production of red blood cells, white blood cells and platelets is reduced. A bone marrow sample would normally contain large numbers of stem cells. However, for someone with aplastic anaemia it would contain very few stem cells over a longer period.
What are the Symptoms?
• Deficiency in red blood cells causes anaemia and people affected may experience fatigue, shortness of breath, headaches and occasionally angina chest pain
• A low number of white blood cells increases the susceptibility to infections, such as sinus / throat, skin and chest infections
• Low platelets cause a tendency to bleed, leading to nose bleeds, unexplained bruising, blood blisters in the mouth, but also serious bleeding episodes, such as into the brain cavity or from the gut, which can be fatal
Once a diagnosis has been made, the severity of the condition will be classified as either non-severe, severe or very severe. This classification is determined by levels of neutrophils, platelets and bone marrow activity.
Who Does Aplastic Anaemia Affect?
Aplastic anaemia is a rare disease that can affect people of any age, but it is common in the most vulnerable groups – 0-to-22-year-olds and in people over the age of 60. The exact occurrence is not known, but it is estimated that between 100-and-150 people are diagnosed in the UK each year and about 30-to-50 of those diagnosed are children. This is around two people for every million of the population.
What Treatments are Available?
Treatment is closely similar to that of patients suffering from cancer. Once a diagnosis is established (and even this can take a long time) treatment is lengthy, costly and extremely isolating. It entails multiple blood transfusions and chemotherapy in preparation for a bone marrow transplant – if a direct match bone marrow donor is found.
The Impact on Young People
Life with a rare illness is tough. It is even harder when you are a child, an adolescent or a young person, trying to get to grips with growing up and finding your place in the world. A rare illness like aplastic anaemia can turn people’s lives upside down.
‘I felt we were entering unknown territory and all the doctors kept telling me was that it was something they had never seen in their whole career.’
Parent of a 14-year-old aplastic anaemia patient
Patients and their families may need to travel frequently and long distances to access specialist treatment that is often not available locally due to the nature of the rare disease. The level, quality and access to co-ordinated support currently available to a young cancer patient is not available to a young person suffering from aplastic anaemia. Yet the effects of the disease can be equally devastating.
The impact on young patients’ mental health is also significant. The lack of available support and information can lead to anxiety, undue worry and concern, feelings of exclusion, and may add to the already significant emotional trauma experienced by everyone affected.
‘When I was first diagnosed with aplastic anaemia I was scared, confused and angry. I felt like things would never improve.’
Alex, diagnosed with aplastic anaemia at 15
Young patients, while undergoing intensive treatment, will miss school, sometimes for an entire year. This can have an additional traumatic effect of missing out in forming those key relationships and friendships in the formative years. The Aplastic Anaemia Trust is passionate about addressing this inequality across all local communities, in which the young patients live, and is working hard, alongside patients and their families, to secure the necessary funds. This is an area of support where there is no government funding available and the not-for-profit sector and charities like the Aplastic Anaemia Trust exist to plug the gap.
How the Aplastic Anaemia Trust is Making a Difference
Thanks to the National Lottery Community Fund, the Aplastic Anaemia Trust is midway through a two-year programme to revolutionise the information available to young patients from birth to 25-year-olds and their families. Working in collaboration with paediatric haematology consultants, senior nurse specialists, young patients and their families, they are producing an interactive resource library on aplastic anaemia. These resources are aimed at those affected by aplastic anaemia from diagnosis, through treatment and post-recovery.
‘For far too long, young people diagnosed with aplastic anaemia have had to make sense of their condition by using information which has been produced for other conditions – mainly cancer-related publications. For many young people, being diagnosed with such a rare illness is challenging enough, however being unable to access any information on their illness fuels their feelings of isolation, anxiety and trauma.’
Leena O’Hara, Programme Manager for MarrowKidz
Using an online survey completed by consultants, patients and their families, the Aplastic Anaemia Trust have identified the clinical information needed for young patients. A series of new factsheets will cover key procedures and treatments used in aplastic anaemia, such as bone marrow biopsies, blood product and platelet transfusions, Ciclosporin, Anti-Thymocyte Globulin treatment, steroids and stem cell transplants.
Alongside these factsheets will be a series of advice booklets, which have been developed with extensive engagement with the patient community. The advice booklets will explore key themes which have been identified as important to young patients, such as coping with isolation, managing relationships and being a teenager with aplastic anaemia.
A short animation film has also been developed for children, in consultation with young people and their families. This will be the first in a series of films to explain this complex condition to children and their peers. The resources have been developed in collaboration with consultants, including Dr Anne Kelly, Addenbrookes Hospital, Dr Beki James, Leeds Children’s Hospital, Professor Rod Skinner, Newcastle, and Dr Sujith Samarasinghe, Great Ormond Street Hospital.
All of the resources, and many others, will be freely available on a new, dedicated area for MarrowKidz on the Aplastic Anaemia Trust website later this summer.
How You Can Help
Fundraising is one way you can help the Aplastic Anaemia Trust, especially at a time when community fundraising has been so devastatingly affected by the recent global pandemic.
Funding and grants will help the Aplastic Anaemia Trust to:
• Provide every patient and their family with excellent quality information, emotional / psychosocial and practical support
• Develop and implement a comprehensive patient advocacy programme to champion the rights of aplastic anaemia patients for excellent quality care and treatment nationally
• Enable ground-breaking research to improve patient experience and ultimately find a cure
To find out more about aplastic anaemia and the work of the Aplastic Anaemia Trust, visit www.theaat.org.uk.