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NEW VIDEO | Jo’s Story With β-Thalassaemia

Welcome to Jo’s story, where you’ll learn about her journey with β-thalassaemia, a hereditary blood condition.

Jo represents the resilience and hope of the many individuals who face similar challenges in life and we hope Jo’s story inspires others to gain courage to keep on fighting.

Join us in standing with Jo by spreading awareness about β-thalassaemia.

Your support can bring hope and inspire others to never give up on their journey in life.

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The Full Story

Introduction

Hi, I’m Jo and I was born with a hereditary blood condition called β-thalassaemia.

The genes responsible for making haemoglobin in my blood don’t work properly, so I don’t produce enough of the “correct” haemoglobin, which is a protein found in our red blood cells and whose job it is to carry and distribute the very important nutrient, oxygen, to the tissues, cells, and organs of our body for their growth and appropriate functioning.

Diagnosis

As a baby, I seemed ok but after a few months to a year or so, my growing slowed and I became weak pale and looked sick. My parents became very concerned and struggled to get a diagnosis.

It’s important to get  early and accurately diagnosed so that you can start receiving optimal care and treatment for your β-thalassaemia although sometimes it can take months, or even years, especially if you have a clinically milder form of thalassaemia (i.e. thalassaemia intermedia) to finally get a diagnosis.

My first memories were of sharp needles and a lot of pain; my mother’s hug was a constant relief although she could hardly hide her own tears and desperation.

The importance of blood transfusions

To get better and stay alive, I had to visit the hospital frequently and get blood transfusions. I really felt like a human pincushion but my doctors used some kind of magic cream so the needles didn’t hurt as much. I felt really privileged to have my family and so many friends around me giving me strength and courage.

Luckily, I also made friends with other patients who were also receiving transfusions and I felt part of a special community, particularly when I got to know of the many individuals who donated voluntarily their blood for us. We would often sit around the room chatting and making jokes whilst we were waiting for our blood transfusions to finish. It was nice to have friends that were going through something similar and could understand how I felt. Sharing is such an important act in our lives!

With these regular lifelong blood transfusions, I was told that iron can build up around my organs which is very toxic if not removed. So I need to take a treatment called iron chelation as well to clean my organs of the iron. When I was younger, I had to have my iron chelation treatment through a big syringe under my skin – subcutaneous – overnight, every night. This was really uncomfortable and I couldn’t sleep very well. But when I got older, and as research and science advanced, we were able to swap to tablets every day instead which was much easier.

Sometimes my hospital didn’t have blood, so we would have to wait until it was available which was scary since I felt so weak. Blood shortages seem to fluctuate across the year so sometimes it’s not a big problem but other times it could be days of waiting.

This is always on my mind and makes me feel anxious. In fact, this is a constant concern and worry of every patient who is transfusion-dependent, wherever they may live. I have had to learn the importance of blood safety and making sure the blood I receive has been tested and processed properly, especially with all the new viruses, the pandemics occurring and the many known and unknown pathogens threatening blood supplies.

Having to rely on blood transfusions, thinking about whether there is enough available and if it’s safe to use, can make me feel worried and impact my decisions in life such as what and where to study, when and where to go on holiday and so many other decisions in life.

Other treatment options

As a teenager I considered a Bone Marrow Transplant, but it was hard to find a match. I have heard lots of promising news about gene-based therapies as a potential cure, but it’s not yet widely available and accessible. I am hoping that I will be eligible for a gene-based therapy one day.

There is currently not enough information about its safety and effectiveness in the long-term and all these worry me. But I am optimistic because, in addition, new drugs are being authorised and much research is going on, all aiming to further improve my treatment and the quality of my life.

Where I live, my treatments are provided free by the government but through my interactions with other patients, I have come to learn that the healthcare system and quality of care you receive can really vary by country and this can have a huge impact on your β-thalassaemia journey.

My childhood

Growing up I felt tired at times, particularly near transfusion time and/or when my iron load i.e. ferritin levels were high, I couldn’t play well with my friends, and I looked quite pale/ brownish. My parents were afraid and concerned about my future and worried what friends and family would think about me. It was not easy to talk about what was wrong with me. Social stigma was and is still a challenge in many societies.

My family felt a mix of emotions whilst I was growing up, including fear, uncertainty, pain, disappointment but also hope. They also felt somehow guilty as they passed on to me this genetic disorder which meant I had to spend a lot of my childhood in and out of the hospital, and was constantly undergoing different and complex treatments.

I remember as a child that my parents did not tell friends and family about my diagnosis and would keep it secret as they were worried about how people would react and treat me differently. There seemed to be a lot of stigma around my diagnosis but I never understood why and although it still exists, things around this, I admit, are getting better and better.

At school and despite my challenges I tried my best to integrate socially. The good medical care I received allowed me to do that. However, I met other patient peers from other countries who did not receive ‘optimal’ care and whose appearance made their disease more obvious.

I tried my hardest to keep up, but it was difficult with so many medical appointments, the fatigue I felt when my transfusions approached, and the challenge of taking my daily chelation therapy. Sometimes there would be complications from my treatments or my blood test results would be bad which meant that I had to be admitted to the hospital and missed even more of school.

Some of my classmates were understanding and accepting, but others were mean, finding opportunities to point out that I was different, shorter and weaker and were curious to find out why and gossip about it.

I tried my best to keep up with schoolwork but it was tricky and challenging at times as I missed so many classes and it was really hard to keep up with my homework. Luckily, most of my teachers were really understanding and gave me space to breathe and found ways to help and encourage me to continue. Many of them truly believed in my competency to do well at school and extracurricular activities but certainly not all! On occasions, my parents would get a tutor to support my efforts.

I managed to finish school and I was really blessed to have been able to finish university as well and get a degree, all achieved with the care and love of my parents and treating doctors, nurses and friends.

I made some great friends during my life journey, but I remember I did miss some really big events when in the hospital or not feeling well. These included many birthdays, going for dinner and the cinema, and I very nearly missed my own graduation!

Adult life

Later in life, I faced multiple challenges at work and I had difficulties in explaining why I needed time off. I always worry about whether I might lose my job, and it is really difficult to find a job, especially whilst having a chronic condition with many and complex needs. It is stressful enough paying for my house without having to worry if I might lose my income.

My current boss and colleagues are rather understanding and let me work around my treatment and appointment schedule, but my previous ones weren’t as compassionate and I chose to leave. Being part of my country’s patient organisation was really valuable as we made efforts to persuade competent health authorities to develop after work/school services so as to facilitate our lives and achieve as normal as possible social/professional integration and satisfaction.

I must strictly adhere to my treatments, including blood transfusions and iron chelation therapy, otherwise I could be hospitalised and become very unwell. Sometimes the constant responsibility of having to be compliant and responsible for my health every day is exhausting and frustrating, especially the part of my treatment which concerns blood donors and the constant worry of having sufficient blood on time for my needs.

I get really tired of being constantly worried, and wish I could have a life without all these ties. But I must be strong and carry on, and fortunately my family and many of my friends are always there with me every step of the way.

Starting a family

I felt great happiness when I met my partner. But I feared telling him about my β-thalassaemia and what it could mean in the future. I was unsure of what and how to tell my story and it was so stressful. Fortunately, he was really compassionate and said we would figure it out together. What a relief and blessing this was for me!

His parents were quite hesitant at first, but we made sure to explain my diagnosis and what it meant and let them ask as many questions as they needed to fully understand. Fortunately, and contrary to the past, thalassaemia today can be managed well and if individuals with this condition are lucky to get optimal care, they can live a near normal life.

Before we started trying for a family, my partner underwent genetic testing to see if he was a carrier of β-thalassaemia, which it turned out he was. This complicated things a little bit, as our chances of passing on the faulty β-thalassemia gene to our children increased – this meant that our children would either have β-thalassaemia or would be just healthy carriers of the genetic disorder.

Nowadays, there are solutions such as prenatal diagnosis where they check if the embryo has the faulty β-thalassaemia gene and decisions can be taken after a discussion with a specialist and between the couple. Moreover, other solutions are on track, such as pre-implantation, where specialists plan the pregnancy for having a child without thalassaemia. Adopting a child is another option.

However, some couples may decide to continue with the pregnancy even if prenatal diagnosis deems that their child is “affected”, since today there is confidence in the appropriate management of the disease. Through conversations with others in the β-thalassaemia community, we know of people like us who have had children and even gone on to become grandparents. We’re really excited to grow our family together and we have started thinking of how to do it.

Luckily, I have found out that there are many people like me around the world with the same worries, challenges, concerns but also hopes and expectations and I don’t feel alone.

My β-thalassaemia has grown with me and it is part of who I am. It is tough but I’ve learnt to manage it and live with it.

Conclusion

I am grateful for the support of my family, friends, and the medical community. Despite all the difficulties, I am able to live a full and meaningful life. My story is not one of defeat, but of resilience and perseverance, and I am proud of who I am and what I have accomplished. I have always kept my hope and strength.

Many others like me have persevered and, against all odds, are living their dreams as authors, models and high-ranking government officials; many even run marathons and go sky-diving! Knowing this helps me to stay optimistic.

Thank you for taking the time to learn about Jo’s story and the impact of β-thalassaemia.

Your support can make a real difference in the lives of those affected by this condition.

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Disclaimer

  • Jo is a fictional character whose story is based on true patient experiences.
  • This video presents genuine patient perspectives from the USA, Canada, Cyprus, Sweden, UAE, Egypt, Lebanon, Bangladesh, and Indonesia. Experiences differ due to varying healthcare services in these regions.
  • Each thalassaemia journey is unique, influenced by diverse factors. Access to optimal clinical care, as per TIF’s International Guidelines, varies globally, from limited to comprehensive.
  • The video aims to sensitize the general public with regards to the challenges people with β-thalassaemia face in their life journey with this serious blood disorder. While TIF remains committed to raising public awareness of thalassaemia and its impact on affected patients, it is also fully aware that the patient experiences and challenges with the disorder can vary across the world, and sometimes even within the same country.
  • Despite commonalities, each life journey with thalassaemia is unique and affected by multiple factors, such as the prevalence of the disease, its recognition as a priority by governments, and the heterogeneity of settings and available resources for its effective prevention and care. Jo’s journey is fictional and does not refer to a specific country.
  • Story elements are fictionalized and simplified for understanding. Characters are ethnically neutral to represent global diversity.
  • The video aims to raise awareness about β-thalassaemia challenges universally shared yet shaped by local services.
  • The storyline is not specific to any country; individual experiences vary widely.

Acknowledgments

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