Mind Over Matter: One Person's Journey From Patient to Change-Maker

David-Zacharie Issom, born in Geneva, Switzerland, was diagnosed with sickle cell disease (SCD) as an infant. Today, he is working on his PhD in health informatics at the Division of Medical Information Sciences at the University of Geneva, where he also serves on the faculty of medicine. Mr. Issom advocates for people living with SCD in his home country and around the world, sharing his unique personal journey and his own experience learning to take control of the disease. He had a conversation with Dr. Julie Kanter, who serves as the Director of Sickle Cell Research at the Medical University of South Carolina, about current barriers to optimal care and the potential for future cures — cures that Mr. Issom himself is working to make a reality.

Dr. Julie Kanter: You are quite an advocate for yourself and for others, so we wanted to do this interview to learn a little more. When were you diagnosed with SCD?

David Issom: I was about 10 months old when I was diagnosed; my parents noticed that I was crying a lot and they didn’t know why. So I had a blood sample taken, and the lab analysis found some strange red blood cells. I was lucky because SCD was not prevalent at all in Switzerland 30 years ago — I was the first SCD patient born there, so it was a bit complicated in the beginning to get adequate care.

JK: They must have matched you with a physician, but I’ll bet that physician didn’t have much SCD experience.

DI: They had no experience with SCD. They actually published papers where I was the case study.

JK: SCD is clearly not common in Switzerland. Even now, do they do newborn screening?

DI: No because it is still too rare.

JK: Are there more people in your country living with the disease now?

DI: Yes. In Geneva, there are approximately 60 adults and roughly the same number of children with SCD — about 150 people. In the whole of Switzerland we don’t know exactly because we don’t have any census data. According to my own investigation with doctors in Switzerland, there are about 400 patients, but this is an estimation; we don’t have clear data.

JK: When did you first meet someone else who had SCD?

DI: I was around 10 years old when a cousin of mine was diagnosed with SCD, but with [hemoglobin] SC not SS, so she had mild symptoms; she was an adult at the time. After several years, when I was doing my masters thesis in Norway, I was able to find, locate and meet with other people with SCD there.

JK: That’s a long time to be somewhat “by yourself.”

DI: Yes, it was; we are very scattered in Switzerland … and isolated.

JK: Do you have any siblings?

DI: Yes, I have one sibling, who is a carrier.

JK: And did your parents  know they were carriers of sickle cell trait?

DI: No, and since they were coming from Africa, it was even less diagnosed there. They had no idea they had the trait; they didn’t know if their ancestors or others in their family had it, and if so, those individuals probably died very young and had no idea.

JK: What part of Africa were they from?

DI: Cameroon.

JK: Since you were originally diagnosed, what kind of complications have you had and what treatments have you tried?

DI: As far as complications, I have nearly everything. I didn’t experience priapism, stroke, or vision loss, but I had everything else — pain of course, leg ulcers, and any other complication you can think of. I was among the first to try hydroxyurea starting in 1997, but I didn’t have a good response to it. My side effects were dry skin, discolored skin, dry mouth, and fatigue. Every week I had to go for a blood test, and I didn’t have any reduction in pain symptoms, so we stopped the treatment. I did blood transfusion therapy for two years with good results, but we decided to stop treatment and use it only when needed. For instance, when I had my leg ulcer we used it, as well as during a pain crisis. But I haven’t had a major crisis for about 10 years now, I still have some manageable pains maybe once a year when I push a little too hard.

JK: That’s amazing! To what do you attribute that  improvement?

DI: Many things. I didn’t have any  more [successful] treatment options so I was left with only one choice — to find a new solution for myself. Either I would find something new or I would die because I was experiencing so many crises. I would have five or six per year, and they were quite severe. My doctor told me that they would only become more severe because my organs had become so diminished.

I decided to take action to increase my self-awareness to understand what my [pain crisis] triggers might be. I decided to accept my disease because if you don’t accept it, you won’t take any action. I learned how to react when I would experience triggers, how to avoid those triggers, and how to be extremely aware of my environment and my body. I did a lot of experimentation to understand what worked best for me and what did not work, but the key was in extreme self-awareness and environmental awareness so that I could understand the best strategy to avoid my symptoms.

It didn’t work every time. Sometimes I still had crises. Luckily, however, I had support from family and friends, and with good health care, I was able to avoid visits to the intensive care unit.

JK: Do you take any medicines now?

DI: Just folic acid … and pain medicine when I experience pain, but this is rare.

It’s possible to avoid most crises, but not all of them because we can’t control our entire environment, but we can still alter it. Extreme self-awareness and environmental awareness has worked for me, and now the process is automatic, but it took years to learn to “automate” it in my brain, as well as lots of daily practice.

JK: Do you think this is something you can teach others — to have this same self-awareness?

DI: Yes, and I already do so now when I coach patients and advise families for instance  as part of the Swiss Patients Organization  (www.suissedrepano.ch) or my other initiatives (www.coachdrepano.com), to help them find new [treatment] strategies.

JK: To switch topics a bit, how did you decide on your current career path?

DI: Working in health informatics was something I decided on maybe 20 years ago because I of course spent a lot of time in the hospital, and my mother was a nurse (a midwife). Through this I experienced both the patient side and the caregiver side [of health care]. I also saw that health informatics  was up and coming at the time, and I had always had an attraction to that field. So going into health informatics was a very early career decision, though it was not yet a specific field of study for it. I had to study information technology  and engineering, some medicine, and finally health informatics once it became available — first in Switzerland and then in Sweden and Norway because they were quite advanced on these issues compared to the rest of the world.

JK: What kinds of technologies are you working on?

DI: I am now working on my PhD, specifically, how to build artificial intelligences to improve health outcomes for patients with SCD. Because I have seen that it is possible to avoid pain crises through self- and environmental awareness, I believe that with the help of sensors and big data collection, we can build intelligences that mimic this way of thinking. I am trying to understand how we can collect these data and structure them to make them interpretable by a computer, and in turn provide information and advice to patients and caregivers for avoiding pain crises.

JK: What kinds of sensors are you designing/using?

DI: We are working on a health information system that is able to collect any kind of exposure health data. We are focusing on data that can be easily collected without the need for additional expensive sensors. We can get data from smartphone step-counters, environmental data such as pollutants and temperature, or other self-reported data such as oxygen saturation.

JK: What taught you to be such a great advocate for yourself and want to “be better”?

DI: I think we have room for improvement [in SCD]. In my daily life I have encountered many injustices. For instance, some health care providers have not always listened to me or trusted my stories or my requests. There are many cases where [physicians] see SCD patients as drug seekers. There is a great deal of stigma, and this led me to become more assertive and to learn how to talk to medical providers to help them reach out where they can and communicate better with patients. This helps us to receive the care that we need, and it also helps providers.

The injustices I have lived through (and I am not the only one) have helped me to become more knowledgeable and communicative. I had to understand the disease and to use the same words as a medical doctor to be more precise. It was worth it to be able to build my credibility. It was also pure survival — there were times I have been nearly killed by a medication. During my last crisis, I had a doctor who was taking care of me who would not give me the pain medication doses I required … they provided me with an overdose of ketamine, which led to respiratory arrest. It wasn’t the first time, but because the mind is powerful, I was able to force myself to breathe in and out and stay alive.

JK: That doctors not know much about SCD is a huge problem everywhere, and many patients I treat also struggle with how to have a life while managing their disease. As their doctor, how do you think I should talk with them in a way that encourages them?

DI: Let them know that there is no reason for them to think that they themselves are not “enough.” We are all humans with the same basic abilities and fundamentals, and with love and positivity, we can accomplish anything we want. If what we want to do is positive, I think nothing can stop us. But (and this is big), we need to have social support … I really believe that anyone can achieve what I did and bounce back when needed. I proved this for myself but now I need to spread it to others.

JK: What else do you want to do in the long term?

DI: I dream of decreasing the impact SCD has on the wider population. Being involved in politics for instance by having run for the Geneva State Parliament or by contributing to health workgroups in political parties. Since following Geneva University’s PhD Program in global health, I have attended many health policy lectures, and I know that government has a huge role to play in putting health care policy into place that can help people get the simple care and information they need … From building more research centers, to doing more research led by patients and advocacy, to improving training for caregivers, there is much more to be done!