European thalassaemia patients share their everyday challenges in special video

March 2021 Viewpoints Willem van Altena

Rare Disease Day is a day that is set aside to raise awareness about rare diseases. It takes place on a rare day: February 29. But since 2021 is not a leap year, Rare Disease Day took place one day earlier. To mark the occasion, American gene therapy company Bluebird Bio has joined forces with a number of leading patient organisations and clinicians to highlight the personal stories of European patients who are living with the rare inherited blood disorder thalassaemia. In a special video, featuring 9 patients from 7 countries (Italy, France, Germany, Greece, Cyprus, Belgium, and the Netherlands), insights are presented into the challenges these patients face during different stages of their lives.

Filmed during the constraints of the COVID-19 pandemic, the patients’ stories are told through a mix of selfie videos, still photography and animated facts, and convey their day-to-day perspectives of living with the condition in different daily scenarios such as school, work, and leisure time. The film can be viewed on www.bluebirdbio.eu.

Belgium

Thalassaemia is one of the most common inherited blood disorders in the world affecting 1 in 100,000 people across the world and 1 in 10,000 people in Europe. It is especially prevalent in countries like Italy, Greece and Cyprus with fewer cases in Germany, the Netherlands, Belgium and the Nordics. It is estimated that in Belgium around 100 people suffer from Thalassaemia, but numbers are on the rise due to migration.

Although there are many cases of thalassaemia among people of Mediterranean, Middle Eastern, South and East Asian and African descent, global population movements mean that the disease now occurs across the world including in Northern and Western Europe. This calls for health policy makers across Europe to address the health and care needs of affected groups as part of their national health plans.

Life expectancy

Nicoletta Bertelli from Bluebird Bio comments: “Beyond the immediate patient community and specialist clinicians, both the disease and its impact on quality of life, are poorly understood. We decided to collaborate with patient groups to commission this video to raise awareness about what this disease really means. Despite the advances in management and care which have made it possible for patients to live longer, they still face physical and medical challenges, and life expectancy is lower when compared to the general population.”

People with thalassaemia have a genetic mutation which affects their red blood cells. This can cause severe anaemia and the need for frequent, lifelong blood transfusions and iron chelation therapy to remove the build-up of iron in their bodies. Side effects from this treatment can cause complications such as organ damage, osteoporosis and problems with the heart, liver and endocrine system resulting in reduced life expectancy.

Everyday challenges

Although treatments for thalassaemia have improved over the past few decades enabling some patients to live into their fifth decade and some even beyond,  the experience of living with the disease still presents many challenges. These are placed into focus by the six patient testimonies that feature in the video: ‘Living with Thalassaemia in Europe: Stories from patients of different ages’.

Everyday challenges patients face include:

  • Adjusting to the disease during childhood, missing school, making friends, and being perceived as ‘weak’
  • Coping with lifelong blood transfusions, iron chelation therapy which means being connected to a pump for several hours a day, continuous injections, and regular visits to the hospital
  • Not being able to enjoy hobbies fully and be as physically active as ‘normal’ people
  • Holding down a job, as they get older, given the constraints imposed by regular treatment and the fatigue caused by anaemia
  • The need to always consider their thalassaemia first and foremost and adjust life accordingly
  • Seeing friends with thalassaemia die prematurely
  • Dealing with mental health issues and depression
  • General low awareness and understanding of the condition

Relic of the past

Panos Englezos, president of the Thalassaemia International Federation in Cyprus, explains why he participated in the video: “I was eager to take part in this project to shine a light on the thalassaemia community and to help foster a greater understanding about this condition and what it really means for quality of life of patients.The stories of these patients are truly inspiring, and it is tremendous to see the courage and optimism they display in living their lives, in spite of the disease. But, as a parent who lost their child to thalassaemia, I would not wish this experience on anyone. I hope with all my heart that one day this serious disease will be a relic of the past”.

More information

Watch the video on www.bluebirdbio.eu

Read more on Thalassaemia in the BJH Hematopedia

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