Do I want to continue being a representative?

People from families with DCAA regularly ask me: “How do you do that, thinking about it all the time?” The Sword of Damocles is not something you like to think about every day. For many, it is a subject that comes up every now and then, that sometimes needs attention, but they prefer not to think about. For many people from DCAA families, it is something that exists in addition to their "normal life". The life of work, family, travel, friendships, drinks and soccer.

Until, of course, it actually rears its head. When someone in the family suffers a brain haemorrhage and/or dies. When you become a caregiver for one of your parents or a sibling. When you have to make choices that impact your future and you think about the future you may or may not have. As a freelancer, I have been postponing thinking about retirement for quite some time now, because I think that if I turn out to be a gene carrier, setting aside funds to have a happy third part of life, would be a waste of money. But I don't really feel the need to get tested. So I've been stuck in a vague financial and probably irresponsible twilight zone for a long time that probably seems irrational. It is, because dealing with the sword of Damocles is very often not about reason.

This also applies to my choice to make my work out of it. When people ask me how I do that, I often answer that I can turn a switch. That I am curious and driven. That with a background as a psychologist and a personal and professional interest in science, I am the right person to drive research as a representative and to improve care from the perspective of people from a family with a rare condition. That I do my work from that compartment and there is another compartment that is the Sanne who never knew her grandfather, saw her cousins deteriorate and die, knows from the age of 16 that there will come a time her mother dies and who is afraid for her own future and that of her siblings.

The Sanne who is slowly becoming a caregiver for her mother and tries to deal with the living loss and constant grief of someone who is perhaps closest to her of anyone in the world. The Sanne who continues her mother's work and desperately wants to talk to her about it, but is no longer able to do so as she used to. The Sanne who sometimes wonders how on earth she carries not only her own story, but also that of so many others. Because she knows the people. The others who lose to this disease. The Sanne who does not participate in research because she has seen too often that data shared during meetings or conferences makes it possible to find out whether or not you are a gene carrier and who does not want to find out that way. But who does provide advice on what research should look like.

That Sanne, the curious and professional one, sits at the table and joins the conversation. This persona of mine is often underestimated, because when you are an expert by experience and a representative, you are mainly seen as that. Not as the person you are, what you bring to the table as a human being. You have to prove yourself as a discussion partner, as part of the process. As if that doesn't sometimes cost enough energy, you also have to accept that there is no compensation in return. “We would like to have you at the table to discuss the digitalization of healthcare. We will provide you with lunch and travel expenses. We look forward to seeing you in Nijmegen.” Or “We would like to invite you to contribute to the discussion surrounding gene therapies and would like to welcome you all afternoon in Utrecht. All doctors, scientists, ethicists and (ex-)politicians at the table will of course be paid for their time and efforts, and you will receive a gift voucher from us.” (No, it doesn't literally say that)

The human being (/ non-professional) Sanne, who has to deal with the emotional rollercoaster that the disease brings with it on a daily basis, who carries the stories of hundreds of families living in the Netherlands and Australia with the Katwijk disease, is sometimes really, really tired. This part of my persona, this Sanne… I sometimes struggle with my feelings. With the feeling of having no power, no control, over what DCAA does to your life. ?With fits of mourning and sometimes bitterness: why this, why us? With the battle between feeling and reason: there is no reason why and therefore no one to be angry with and yet sometimes I am angry.

With that side of me, I regularly consider whether I should continue to do this. Whether I should continue to be a representative. Because I, my little person, the little speck in the universe that I am, the little brain and body that has to endure quite a lot, has to deal with the fate of so many, in a world that is so often about egos, about time and money and politics and rules and laws. About things that were not invented for us. A world in which you are told that as a rare disease you are only interesting if the research into it serves a greater purpose. The world that consists of a capitalist force field, in which you are constantly busy selling and protecting your target group at the same time. In which I am constantly trying to sell myself and protect myself at the same time.

In that world I can only convey my points if I do so professionally and can substantiate my opinion. I can do that, I know that. And that's how I get a foot in the door and sometimes people listen to me. But in that process, the persona Sanne, who has to be professional, sometimes forgets what it is about: the people and their stories. Because if I tell the human story and become emotional about it, I lose a bit of my credibility at a table of professionals. At a table with people who sometimes believe that because they do not feel those emotions and have a distance from the subject, they should make decisions for us.

I have quite a few victories under my belt. I advise on communication with our families, I help think about the design of studies and study visits, I anticipate how certain things will land with ‘my people’ and how we can anticipate. In every meeting I bring up the impact of choices on the people concerned. I remind researchers and pharmaceutical companies that political and financial nonsense is certainly very important, but people must come first.

“How do you do that, Sanne, dealing with the disease all the time?” I think I hold on to the victories. Keep an eye out for positive changes. Get energy from the gratitude of fellow family membes who feel heard and seen. Enjoy the involvement of many local companies, agencies and organizations during our Kattukse BrainWeek. Draw strength from our shared experiences and the support we receive from each other. Am grateful for the beautiful professional and personal relationships that I have been able to build. Occasionally visit my therapist, who specializes in hereditary disorders and is a scientist. And choose a little naivete when it comes to dreams of the future.

In ten years' time, people with DCAA will be able to choose from three forms of therapies that have little impact on their lives and certainly no side effects. They decide in consultation with their doctor which treatment is best for them and their wishes, needs and their own experience are taken seriously. Humanity is the norm and participation and equality are a given.

My work is done and I hang in my hammock on my own piece of land on an island somewhere in the Indian Ocean, no longer dreaming of anything, because that is no longer necessary. I enjoy the sound of my icecubes clinking in my glass of refreshing whatever and with a deep sigh, I aimlessly draw circles with my toes through the soft sand and turn a page of my book. Cheers.