One family’s journey to find a cure for amyloidosis

For three years Aileen Watt and her husband Alex travelled over 200 miles every week from the north west of England to the Royal Free Hospital in Hampstead, so he could receive specialist life-prolonging treatment for the rare condition, amyloidosis.

In January of this year Alex sadly died at the age of 69, but his family say they will always be grateful for the treatment he received at the hospital, enabling him to live long enough to meet his three grandchildren.

Now they want to talk about the condition to raise awareness about the ground-breaking research work taking place. The National Amyloidosis Centre, based at the Royal Free Hospital, has been at the cutting edge of treatment and research into all aspects of the condition since 1999.  It was established by Professor Sir Mark Pepys, the first UK physician specialising in amyloidosis.

At the Royal Free London NHS Foundation Trust, the haematology, cardiology and nephrology departments run a treatment service for patients with AL amyloidosis (the most common type), particularly for those with advanced heart or kidney damage.  Alex was treated through the amyloidosis treatment service led by consultant haematologist, Dr Ashutosh Wechalekar and consultant cardiologist Dr Carol Whelan.

Aileen, 64, from Lytham in Lancashire, said: “If talking about Alex and the amyloidosis means one person recognises the symptoms and gets diagnosed earlier then I’m happy to share our story.”

Amyloidosis is a rare condition caused by a build-up of the body’s own protein in an abnormal form, called amyloid, throughout the body.  The build-up of these deposits damages the structure of the organs and tissues and prevents them from working properly.  Serious illness results and the condition is generally fatal.  There are about 4,000 to 6,000 amyloidosis patients in the UK and there may be many more who remain undiagnosed.  In Alex’s case, amyloid deposits formed in the heart, preventing normal function and leading to heart failure.

Aileen says it was on holiday three years before his death that Alex started feeling very breathless and many tests later it was finally confirmed that he had amyloidosis.

Aileen said: “Alex had only just retired from his job as an accountant but the condition aged him very quickly because it’s so aggressive. He started losing his hair, nails and his eyes became very sunken in his face.

“Looking back there were niggling little health issues well before the holiday but Alex just powered on. He’d never been to the GP, never took time off work and never complained.”

Dr Ashutosh Wechalekar, Alex’s consultant, said: “Timely diagnosis is a real problem for patients with amyloidosis as there are often a wide variety of relatively ‘common’ symptoms, depending on the individual organ(s) targeted by the amyloid protein deposits. The latest review shows patients seek medical help for nearly 18 months and may have had at least a dozen hospital attendances, seeing three to five different specialist consultants, before they get the correct diagnosis. Unfortunately, by this time, a lot of irreparable damage has often already been done.”

The National Amyloidosis Centre is at the forefront of education for healthcare professionals across various specialities with the aim of getting patients diagnosed earlier.

Treatment for AL amyloidosis focuses on supporting the function of failing organs as effectively as possible whilst trying to eliminate the abnormal cells within the bone marrow which produce the amyloid forming protein.  If this can be achieved, organ function is stabilised and in some cases the amyloid deposits slowly clear, leading to clinical recovery.  However, despite best efforts, a substantial number of patients still succumb to the disease soon after diagnosis.  Sadly, this often results because the diagnosis is made too late.

Dr Wechalekar said: “The combination strategy invented by Professor Sir Mark Pepys and developed further by collaboration with GSK has had positive results with rapid amyloid removal for patients where the build-up of amyloid proteins is in other organs, like the liver.

“The current trial is designed for patients where the build-up of amyloid proteins has affected their heart – where a rapid amyloid removal would make a life changing difference and, as yet, has remained an unmet medical need.  The trial is currently recruiting patients with AL amyloidosis which has attacked the heart and is open at the Royal Free Hospital, other centres in UK, as well as the USA. We are looking forward to the results sometime next year.”

Unfortunately Alex was too unwell by the time the trial began to take part but his family are continuing the fundraising efforts he began.

When Alex was first diagnosed he donated £3,000 to the UCL Amyloidosis Research Fund, the charitable fund created specifically to support the research activities of the National Amyloidosis Centre and the Wolfson Drug Discovery Unit at the Royal Free Hospital. At his funeral, guests were asked to make a donation and they raised £2,500, which the family have matched. Aileen and Lynne travelled to London to present a cheque to Dr Wechalekar and Dr Whelan recently. Now his daughter Lynne is planning to run a half marathon in July this year and is hoping to raise another £2,000, in order to bring the total raised to £10,000.

Aileen said: “The doctors believe they will find a cure for amyloidosis and we want to do what we can to bring that day closer. Dr Wechaleker, Dr Whelan and Alex just gelled and we decided to continue his treatment at the Royal Free Hospital. We trusted the team implicitly and have nothing but praise for the dedication they showed to Alex’s care and treatment.”

Dr Wechalekar said: “Treatment of amyloidosis has come a long way in the last 10 years.  The survival rate, on average, has improved from just over a year to more than five years.  We have made major strides in developing drugs that can kill the cells producing the amyloid forming light chain protein and patients who respond well have an excellent chance of long term survival. But we still need drugs which can improve organ function quickly.

“Alex presented with advanced heart damage and battled this devastating illness bravely.  Aileen was remarkable in supporting with Alex’s care which made a huge difference.  It was an honour to know Alex and his family and be involved in his care.  His continued fortitude was inspiring.

“Newer and better tolerated treatments using monoclonal antibodies like daratumumab show better results and tolerance, offering hope to sicker patients who cannot tolerate or worsen at relapse after chemotherapy.  Support from patients and their families is the backbone of all our research and we are most grateful for their dedication and support towards our efforts to find safer and more effective therapies, with the ultimate goal to find a cure for this rare disease.”

PIC L-R: Dr Carol Whelan, Dr Ashutosh Wechalekar, Aileen Watt and Lynne Watt 

About the National Amyloidosis Centre

More than 4,000 patients attend the National Amyloidosis Centre annually, including about 1,000 newly diagnosed patients, all of whom receive the world’s best diagnostic investigations, including unique gamma camera imaging and specialised cardiac MRI, neither of which are available anywhere else in the world.  The world’s leading expert, specialised, treatment advice is also provided.

The National Amyloidosis Centre was established by Professor Sir Mark Pepys, the first UK physician specialising in amyloidosis. It is the only specialist centre for amyloidosis in the UK and is centrally commissioned directly from the Department of Health to provide a diagnostic and advisory service for all amyloidosis patients in UK. 

About the Royal Free London NHS Foundation Trust

The Royal Free London’s mission is to provide world class expertise and local care.

We attract patients from across the country and beyond to our specialist services in liver, kidney transplantation, haemophilia, renal, HIV, infectious diseases, plastic surgery, immunology, vascular surgery, cardiology, amyloidosis and scleroderma. We are a member of the academic health science partnership UCL Partners, which brings people and organisations together to transform the health and wellbeing of the population.

The Royal Free London is one of four trusts across the NHS to be chosen to develop a group model enabling us to share services and resources more effectively across hospitals to improve the experience of patients and staff. More information is available here https://www.royalfree.nhs.uk/the-royal-free-london-group-model/

Barnet Hospital, Chase Farm Hospital and the Royal Free Hospital are part of the Royal Free London group, and North Middlesex University Hospital NHS Trust became its first clinical partner in September 2017.

For more information about our group structure visit www.royalfree.nhs.uk/the-royal-free-london-group-model and for general information about the trust visit www.royalfree.nhs.uk