My diagnosis with a Rare Disease

Atakan Uzun talks about the struggles he faced as a secondary school student, culminating on the 12th of May 2017 with the diagnosis of a rare disease.

As a young teenager, I struggled with fatigue every day, even in the morning, and I would frequently fall asleep. I would often fall asleep at home around 9pm. I also had a tough childhood, getting constant stomach bugs and missing lots of school. As I finished primary school, things began to worsen as I began to develop into puberty (we found out after my eventual diagnosis that my condition meant I had never really hit puberty). In secondary school, my condition gradually became even worse, but I couldn’t figure out what was wrong.

During the summer of 2016, I started vomiting quite a lot every time I ate dinner. I decided to go to the doctor to get a blood test. The blood results came back with a diagnosis of lactose intolerance. I would have to stay away from all dairy products which included lactose for a few months, to see if that solved my health issues.

I decided to go back to South Doc in November 2016, because I was also suffering from a stomach bug. After the doctor in South Doc tested me, he concluded with one interesting point. He said he didn’t think I was lactose intolerant and that he believed there was something underlying my symptoms that he couldn’t get to the bottom of. A few weeks later, I went back to my own doctor and he referred me to the Mercy Hospital to get tested for tuberculosis (TB). This test also came back clear. Despite countless blood tests, we still didn’t know what was wrong with me. 

Because of all of this, I had missed around four weeks of school. It was clear that I was already falling behind with my academic work. Despite this, I still did well in my Christmas exams. Then came the most crucial year of my life, 2017.

I managed to not miss any school in January, but I missed some in February because of a head cold and a chesty cough. When I came back, I was not operating anywhere near a level good enough to pay attention to my academic work, and to pay attention in class. At this time, I started to vomit after eating again. Due to this, I began to stop eating my breakfast and the deputy principal used to ask me every morning why I wasn’t eating. A dilemma I had was that if I went long periods without eating, I would vomit bile. This happened one day in April 2017, during a family trip to Fota Wildlife Park. As April came to a close, the most critical month of my life approached. It was in the first few weeks of this month that I began to finally figure out what was wrong with me.

The 5th of May 2017 was meant to have been the day I went into the city library to start my Leaving Cert History project. Instead, I went to the doctor in order to get yet another blood test. On my way there, my vision blurred, and I began to vomit on Washington Street. I couldn’t prevent myself from vomiting further and almost fell to the ground as I was so low in energy, but I managed to get to the doctor. I was so underweight that the doctor had to turn me on my side to get blood out of me. I was told that I was naturally thin. Yet again, I was given a simple response to an extremely complicated problem. 

On Monday, the 8th of May, I returned to school. I struggled to stay awake in class. Even in my favourite subject, Business Studies, I couldn’t stop myself from falling asleep. I decided to go home from school early that day and I went straight to bed. I went to the doctor to get tested for an underactive thyroid, and was put on medication for this. However, once again, this was an overly simple answer to something very complex.

That same week, on the 11th of May, my mother told me that the week after, I would be going to the doctor to get tested for a rare disease called Addison’s disease. Addison’s disease disease only affects about 104 people in Ireland. Famously, the US president John F. Kennedy had Addison’s disease throughout his life.

The day after, the 12th of May, was the scariest day in my life. I woke up as normal in the morning, feeling very fatigued. I went into town with my mother and as I was walking down Oliver Plunkett Street, I fell to the ground and was vomiting once again. We went to the Mercy Hospital A&E, which turned out to be the best choice we could have made. Luckily, there was an endocrinologist practising that day, who specialised in conditions such as Addison’s disease and diabetes, and I got tested for Addison’s disease on that same day.  Finally, I found out what was wrong with me after almost twelve months struggling to find out what was the issue. It was Addison’s disease.

Addison’s disease is a condition which affects a very small number of people. There are meant to be two hormones that sit on top of a human’s kidneys which people with Addison’s disease don’t have. These hormones control your sweat glands and allow you to sweat, so in some ways, Addisonians are like volcanoes; they don’t sweat massively as it stays inside their bodies. Symptoms of Addison’s disease include fatigue, bloating, nausea, anxiety, muscle or joint pains, unexplained weight loss, salt cravings and darkening areas of skin. Strangely enough, people with Addison’s disease must follow a diet that is heavily rich in salt. They must have almost three times the intake of salt of the average person. This meant I would have to adapt my diet. When people with Addison’s disease reach crisis period, it is referred to as an ‘adrenal crisis’. This is what I experienced on both the 5th and 12th of May 2017. This could have led to me going into a coma, or even dying.

I stayed in hospital for almost an entire week in order to fully recover from my adrenal crisis. I was signed off for the rest of fifth year, missing almost ten weeks of school. Later, I would take about four weeks off at the end of sixth year to catch up on the work I missed in fifth year, to prepare for my Leaving Cert. I got 349 points, and despite missing almost sixteen weeks of both fifth and sixth year, I made it into UCC by the skin of my teeth. 

My journey to getting diagnosed with Addison’s disease was, without a doubt, a tough experience, but it was worth it, as it got me to where I am in my life now. I am a happy person studying BSc Government and Politics in University College Cork. I appreciate waking up every day and being alive and healthy.