To celebrate Rare Disease Day 2021 (February 28), Takeda is highlighting stories of “Rare Star Resilience” and honoring inspirational members of the rare disease community. Through this campaign, we share the unwavering commitment of five patients, families, caregivers, healthcare professionals and patient advocates who continue to inspire us in a particularly turbulent time.
Rare is strong. Rare is proud. Rare is many. Rare is resilient.
We sat down with Beverley Yamamoto, a patient with the rare condition of Hereditary Angioedema, to talk about her disease journey and the outstanding resilience of those with rare disease.
A message of resilience from Beverley on Rare Disease Day 2021:
As individuals and as societies, we are strongest when we recognize the inherent weakness of our bodies – in the case of many of us in the rare disease community one small change on a gene and we have a rare disease – and the need to work together in a supportive way to create structures that are inclusive and fair. I think I have met some of the most clear-headed, creative and resilient human beings within the rare disease community. It is a community that is working creatively and caringly, and with dedication and expertise to improve the lives of all of us with rare diseases. I feel privileged to be a part of it.
I have a rare disease condition called Hereditary Angioedema (HAE), which results in unpredictable swelling in various parts of the body, including internal organs such as colon and stomach area. I suffered regular and severe episodes of swelling from about the age of 16 onwards, though my first attack was around age 12. Severe attacks were mostly abdominal, but I occasionally had disfiguring facial swelling as well as regular minor episodes of hand and feet swelling. Despite this, I was not diagnosed until the age of 52.
One of the distinctive characteristics of HAE is that between attacks you are physically fine. Nevertheless, the burden of not knowing when you will have your next attack is huge. I learned to negotiate these pattern of remission and attacks in various ways, but it was not easy. The abdominal attacks were often excruciatingly painful and I would suffer severe vomiting for as long as 24 hours. Being diagnosed with HAE and then getting effective access to medicines changed my life and that of my family.
I learned to push myself when I felt awful for as long as possible, and then stop and somehow get through the extreme period of pain that accompanied severe attacks. The COVID-19 pandemic has been devastating for many and I have looked on with sadness and feelings that we should as a community be able to do better than this. Even so, on a personal level the last year has not required resilience or perseverance on the level I needed when I had undiagnosed HAE. Nothing today even gets close to that experience for me personally in terms of the resilience and perseverance that was needed if I was not to give in to HAE when I was undiagnosed. Today, I have ready access to medication. The sense of relief is still with me 9 years after being diagnosed.
In short, on a personal level, the problems faced this year personally are small compared to what I experienced as a undiagnosed HAE patient. If I became infected with COVID-19 that would be a very different story.
Personally, resilience means that I was always determined never to let what I now know is HAE, stop me from setting and reaching towards professional and personal goals. Having a rare disease provided many situations where I could experience empathy with others who were suffering in some way. Having periods of incredible weakness also taught me how to accept the hand and strength of others; and there are many who help you on your rare disease journey. From this, I have always had the privilege of seeing this world as largely filled with kind and generous people. Once diagnosed, you see the incredible expertise at work of those developing new treatments or working to improve the care of rare disease patients. Again, this is enormously uplifting.
The work of HAEi in 2020 is truly inspiring. I am a Board Member, but it is the core team who have worked tirelessly in the different regions to provide support to patients, carers and the medical community, particularly in low and middle income countries. The drive to ensure every potential patient is diagnosed and has access to medicine is truly inspiring. Despite disruptions due to COVID-19, it has been a good year in terms of creating hubs of expertise in areas where previously there had not been much activity.
Working within HAEJ, the Japan arm of the organization, is also a source of inspiration. We are constantly growing in skills and expertise. The links between us and our medical advisory board shows that physician-patient partnership works effectively. It is a real privilege to work with my ‘HAE family’ in Japan. Although our plans for a major international meeting last year got canceled due to COVID-19, we managed to conduct research, support a number of clinical trials, support patients, create some resources for young HAE patients and support Rare Disease Day activities. HAEJ organizes the KOBE City Rare Disease Day activity each year, and 2019 was the last face-to-face activity we had. We are part of the wider rare disease network here in Japan.
There is significance on a number of levels. It helps to raise awareness about rare diseases; since they are rare, there is little awareness of many of these conditions even among physicians, hence the delay in diagnosis that is characteristic of these diseases. It allows patients and advocacy groups from different disease areas to meet to share experiences and information. At the annual HAEJ Kobe City event for patients from various disease areas, it is a relief for many to be able to talk openly and without fear of being misunderstood. When many patients and their families fear discrimination and stigma, it is an event that says we are here and proud to be here. It is very uplifting.
Obviously, the first hope is that COVID-19 is brought under control and people everywhere can return to their normal lives. I also hope the world and individuals can learn from this pandemic about the inherent vulnerability of all human beings and our interconnectedness. Many people have experienced this last year as a wake-up call and how our actions have meaning for the health of the planet.
For me, the key theme here is building on the strength of individuals, communities, our organizations, states and wider global society to raise awareness of rare dsieases and the sense of vulnerability they can foster, while at the same time encouraging resilience and hope. This can be turned into an asset and driving force for good.