Eleanor from the UK
Hi, I’m Eleanor! I’m 23 years old and live in the UK. It wasn’t until I was 10 years old that I was diagnosed with classical HCU. As a young child, I definitely experienced symptoms but didn’t have an answer as to why. I didn’t speak much until I was about 3 years old and it was also around this time that my vision drastically began to deteriorate. I was always very tired, my urine smelled strange, and I was sick a lot. I didn’t hit my milestones like my sister did, so it was worrisome for everyone.
As I was growing up and I entered school, I had difficulty focusing on things and completing tasks. I think maybe part of this was just that I didn’t feel well nor did I have the energy to sustain focus. I also had a really hard time seeing the board, which made things difficult for me as well. I got glasses around 8 years old and since then my vision has improved and thankfully, I haven’t really had any further issues with my vision. For over 8 years, I was misdiagnosed. It was incredibly frustrating because while I knew something was wrong, doctors kept fobbing me and my mum off and would often compare me and my sister. Finally, one of my doctors ran a blood test, and shortly after, we got a phone call saying that we needed to come in. They took me and my mum into a room and delivered the news that I had homocystinuria. They also ran a blood test on my sister, and her test was negative. It was just me.
As I listened to the doctor deliver the news of my diagnosis, it all went over my head. I just remember feeling like a failure, and I was angry and upset. But, receiving my diagnosis was in some ways a relief that I wasn’t going crazy, and a relief to my mum because she had known all along that something wasn’t right. Atleast now we had an answer. The only thing I really remember them saying is that I couldn’t eat a lot of protein anymore. I thought “What in the world is going on? I used to eat protein and now I can’t?” When you’re 10 years old, you don’t fully realize what’s going on. I didn’t understand this new diagnosis and I also couldn’t understand why there were now certain things I couldn’t eat.
It was very hard having a new diet because I couldn’t eat so many things that I enjoyed which made me sad and angry. I used to eat a lot of chicken and all of a sudden, no more. As I’ve grown up, I’ve gotten used to it now, and my diet is really healthy. Some of my favorite low-protein meals are pesto pasta with veggies and low-protein cheese toast. My current treatment consists of a low-protein diet, medical formula, Cystadane, folic acid, and Vitamin D3.
I wish I had been diagnosed earlier because I wouldn’t have had such trouble adjusting to a low-protein diet. My late diagnosis also resulted in a learning disability and other special needs that make my life hard. I have had support in school for education, physio, occupational therapy, speech therapy, and play therapy. I am doing really well now and with support, I have a job working in textiles. I live in my home and have support with all the things I need to do. I enjoy meeting friends and having a good social life, which also includes meeting with people from disability groups. In my free time, I love couponing and weaving.
I hope that one day we will have some sort of treatment that would allow me to eat a more normal diet. I also have plans to raise money for HCU charity. Finally, I hope to one day live in my own home like my sister and maybe get married and have a family, but we’ll see!