In this installment of the Real-World Series, we have a chat with Dina de Sousa, a member of the IDEA-FAST Advisory Board. Dina, an HD family member and a patient advocate for many years, has been involved in the project for a long time. She has been a board member of the European Huntington’s Association since 2016 and of the Scottish Association until 2023. She is now retired and living in Portugal, but has worked for many years as a research assistant at the University of Edinburgh. Through her journey with Huntington’s Disease and other health setbacks, she has been a strong advocate for patient participation in IDEA-FAST.
When did you get your diagnosis? What has the journey through therapy and disease management been like since then?
I had predictive testing as soon as my father got diagnosed with Huntington’s Disease (HD), about 12 years ago. When I was told I had the gene, I initially put it on the back burner and continued with life as usual for about two years. After a few years, I decided I wanted to take my physical health seriously and not ignore the reality of the disease anymore. I have not yet had a clinical diagnosis, as it is only possible after you start experiencing motor symptoms. Still, Huntington’s is a very complex disease, encompassing motor, cognitive, and mental health symptoms, which has deeply impacted my life. Fortunately, even at my age, I have not started experiencing motor decline. My family has what is known as late-onset Huntington’s Disease, and the progression of the disease is delayed. However, I have experienced cognitive and other symptoms. The biggest impact has been on my cognition. I have struggled with sleep disturbances and constant fatigue for many years now, which led me to retire early, at age 54. Not having the additional stress of work, as well as a better diet and regular exercise, has helped me manage my symptoms better. Nevertheless, the disease has progressed.
What are your preferred pastime activities? Have they changed since being diagnosed?
I was never sporty, but I have always done exercise classes and light movement. When I got my HD diagnosis, it pushed me to take physical activity more seriously. I worked for years with a personal trainer, who helped me work on my balance and endurance. Since I moved to Portugal a while ago, I have been doing Pilates regularly. My ability to stay active has been impacted not only by Huntington’s but also by Long COVID, which I got diagnosed with in 2021, and breast cancer. After I contracted Long COVID, I had to adopt an entirely new approach to exercising, as I was unable to engage in more strenuous activities, such as spinning or weight training.
Each time I face a new health setback, it is like a reset of all my progress, and it takes a mental toll. Some years back, I was able to deadlift 20 kilos, and now I am not supposed to lift any weights. It can be incredibly discouraging to think about all the physical activity you cannot do anymore, but I try to stay active in any way I can.
How did you hear about IDEA-FAST? Has it changed the way you handle your diagnosis, e.g., learning more about digital devices, your expectations about managing the disease?
I have been a board member of the European Huntington’s Association for quite a while, and I heard about the IDEA-FAST project in one of our meetings. My problems with sleep and fatigue have had a great impact on my life, which is why I asked to be involved. I was already vastly informed about sleep and fatigue monitoring before I entered the project, but I was very interested in the project setup and the devices used in the IDEA-FAST project. I even got to test all the devices before the start of the Clinical Observation Study (COS).
What improvements do you believe could be made to support patients with similar health conditions?
The landscape of patient voices has changed and is changing for the better, and it is fundamental that we continue to advocate for patient involvement. Sometimes, what is important from a pharma perspective is different from what patients believe and what is important to them. Patient involvement at every step of the way is critical, and we should encourage more collaboration. There is no real progress without patient involvement.
How do you envision the potential impact of IDEA-FAST on patients in the future?
I believe digital monitoring and telemedicine are the future, as they provide many communities that were disconnected with the opportunity to access good healthcare. IDEA-FAST is paving the way for digital health in fatigue and sleep disturbances. The project provides a very unique perspective, and I am excited to see how it will contribute to advances in sleep disturbances and fatigue management.
Do you have any positive experiences, achievements, or personal growth you’ve experienced despite the challenges of your diagnosis?
I have learned to roll with things more. Acceptance can be very difficult, but I have learned to accept what my body can do and go from there, not try to fight my body. I have also become more courageous, engaged in patient advocacy, and speak publicly about my experiences. My Huntington’s diagnosis has given me a new perspective on life and encouraged me to open up.