Patient Stories

hATTR Amyloidosis Ambassador

My wife and I began our journey on the high seas over 27 years ago. It was out on the open ocean that our friendship became this lifelong partnership. Even though our lives are now different than we expected, we still have adventures to share and a lot of laughter, too. Hello. I am Roland, and I would like to thank Alnylam Pharmaceuticals for sponsoring and supporting me to share my story of living with hATTR amyloidosis. I would also like to thank my wife, Nicky. Without her love and spirit I might not be here today.

Now I am sick. It was about six years ago when I finally said these words to myself, and I understood my life was changed forever. I was diagnosed with hATTR amyloidosis, a rare genetic disease that produces proteins in the liver, which then makes an impact on different parts of the body. How could I have this terrible disease? After three weeks in the hospital, an allergic reaction to some of the medicines, the complication of a gastro-stent, and the threat of being placed on a feeding tube, I had had enough. I thought to myself, I have things I want to do with my life. Nicky and I have plans. We have jobs to do. We have adventures yet to share. Now it was time to decide with my wife what to do next.

One thing I learned long ago was that you need to be flexible and open to what happens in life. I became a chef, for instance, because I was not able to follow a technological path as a student. My father told me I had to grow up and do something with my life—not so unusual for a father to say this to his son. I thought about my options and eventually I found a position at a restaurant where I also trained to become a chef. I found a way to gain experience and certification, and my future was created. It was not what I had specifically planned; it just became. I worked hard, met many people, saw many places, had to adapt to many different environments, and it has been amazing.

I had not planned on meeting Nicky, either. We met on a cruise ship where I was a chef and she was a croupier. After work I usually went to the crew lounge to have a relaxing drink and talk to some of our colleagues. Sometimes the ship anchored near the island of Tortola where we took the tender to shore. There was a great local pub that made a cocktail called The Painkiller, which, after drinking, you felt no pain at all. Nicky and I started dating after this and continued to do so through the end of our contracts. Then she went back to England and I to Germany. She had the offer of a croupier job in Mexico, but I asked her to come for a visit to my city, Bremen, before she went. She came and never left.

Five years later we decided we wanted to travel and work in other countries. An agency in England began to find placements for us both—I as a chef and Nicky as house manager and chauffeur. After about six months we found ourselves handling a party in the U.S. for the governor of Missouri, which was to be followed by a fundraiser for President Clinton—it didn’t happen in the end. Later that year the Twin Towers were hit by planes. It was so sad everywhere so we decided to go home to Bremen.

In 2003 I was told that I needed an operation in both hands because of carpal tunnel syndrome. This was not unheard of for someone in my career, but it certainly caused problems when holding a knife, plating the food, or carrying heavy objects. I had to get it fixed. Thankfully, the operation helped and I was back in the kitchen in no time. Later, once my hATTR diagnosis was confirmed, I was told that carpal tunnel can be an early symptom.

A few years later, in 2010, I twisted my left ankle and it would not heal. Instead, I began to experience the sensation of pins and needles, and even started losing the feeling in my legs. I went to the doctor to find out what was causing these problems. They did lots of tests but they could never give me any clear answers. I would just be sent on to another specialist and be given more tests. By this time I was feeling very fed up. Nobody seemed to be able to tell me anything useful.

My mind wandered. I started thinking maybe it was a disease like cancer or AIDS. At one point a doctor told me I lacked vitamin B12 and that I had polyneuropathy—I had never heard of this. Still, this information did not help me to find a solution. By the end of the year I once again found myself in hospital. While I was being assessed, it was suggested that I had diabetes. The doctors also did a bone marrow test. I was beginning to feel like I should reserve a bed. I also felt like a guinea pig and patient rather than the working man I had always been—but life must go on.

The following year during my regular visit to my general practitioner (GP), the electrocardiogram (ECG) was not looking good, and I was urgently given an appointment to see a cardiologist. After the initial tests, the cardiologist was worried so he sent me for an immediate MRI. Still no answers. Instead, I was rushed to hospital yet again. What the hell was going on? While I was there, they inserted a heart catheter and performed a heart biopsy. During this process I began to feel unwell and was sent to the chestpain unit for closer observation. My wife was in shock. The stress of constantly worrying about me was beginning to show, but she stayed by my side through it all. I must admit that I was afraid the doctors would never figure this out.

After a few days I was able to go home again and try to live my life like usual, or so I thought. One day while eating lunch with my Nicky, I passed out and stopped breathing. She called the emergency service, and when they arrived, I had regained conciousness, but I was not myself. I proceeded to vomit all over the attending doctor, which was really bad because I had just eaten green cabbage. Despite this scare, I was taken to the hospital where they performed a nerve biopsy, and then I was sent on to the cardiologist and the electrophysiologist where all the results were collected and analyzed.

Believe it or not, the doctors finally had a name for what had been causing over 12 years of mysterious symptoms—cardio hATTR amyloidosis with fainting events due to falling blood pressure.

I was sent to amyloidosis specialists in Heidelberg for more tests, with the hope that I would get some clear answers. On the eight hour train ride home, I was numb for a while and wondered how my life was going to change. I had just learned I have a hereditary disease, I also began to think about who else in my family may have had similar symptoms. I had never heard of hATTR Amyloidosis. At the time, I could not think of anyone in my family who had experienced similar symptoms. As time went on I remembered that my father was someoone who maybe had it, but he was gone and I could not find out for sure. After a life spent doing exciting things I was being confronted with this strange diagnosis. I cannot explain well enough what it felt like to learn about what was happening to me, and about what the future might bring. I was also worried for Nicky more and more. Her burden was heavy, and both of our emotions were raw. It was a very difficult period. The worst was yet to come.

Later that same day after we were back home my wife had to call for an ambulance yet again. When I arrived at the hospital, Nicky and I both told the doctors about my diagnosis. We were both really frustrated because our information did not seem to matter to them. Instead, they ignored us and went on to diagnose me with epilepsy. I was given epilepsy medication and stayed on it for quite some time. I never actually had epilepsy.

A few days later, I was with my nerve specialist. On leaving his office, I collapsed outside the ambulance centre and woke up in intensive care. They determined I needed a pacemaker, which they inserted later that day. Despite this latest shock, in the end it helped a lot, which was a great relief to us both. For the first time in a while we could relax a bit more. Later that summer, I received an invitation to participate in a medical study. This gave me great pleasure. Not only might I possibly be able to help my own symptoms, but my participation could help the researchers understand more and help other patients, as well. After being so held back by sickness, this made me feel like I could be useful again.

Just like I said earlier, you never really know what life will become, so you must be flexible and open to events and changes. I never thought I would be a chef. I never thought I would see the world with such an amazing woman by my side. I certainly never expected hATTR to interfere with the things I did plan, but it has and it will. Without Nicky, I would never have survived these last six years. All the help and love she has unselfishly given to me has gotten me through my hardest days. I cannot thank her enough.

I am fully retired now. We both are. I spend my days doing things on my computer, taking walks, and being social whenever I can. Nicky and I laugh and talk and help each other to stay positive. Neither of us expected this heavy anchor, but together we are able to steer the course.

Thank you!