MILAN’S STORY

My name is Milan. When I was two years old, a rare condition called “Dent disease” was discovered by chance. It is caused by a change on the X chromosome (the CLCN5 gene). From birth, I already had several health issues, including stomach and back pain. After many tests, small calcium deposits were accidentally found in my kidneys. DNA testing eventually confirmed the diagnosis: Dent disease type 1.

Dent disease is a rare inherited kidney condition in which the kidneys are less able to reabsorb certain substances from the blood (see www.erknet.org). This means regular check-ups, because symptoms can change over time and there may be increased fatigue, growth problems, and/or kidney function issues later in life. I inherited this condition from my mother. She is a carrier, and the genetic change likely arose through a spontaneous mutation.

I am now five years old. I hardly have any kidney or stomach pain anymore. Healthy and varied food really helps! Unlike other children, I can’t eat everything. If I eat the wrong food or something that is too salty, I develop symptoms within a few hours. I then get stomach pain, feel extremely thirsty and staying dry at night becomes very difficult.

I also grow slowly, get tired more quickly, and am less strong than my brother (who is two years younger) and the other children my age. If I don’t eat enough or regularly, I can become very irritable, anxious, or sad. From the moment I wake up until I go to bed, I am almost always “on”.

My mind and body are constantly active, and that takes a lot of energy. Fortunately, there are moments when I can truly relax. I become very calm when I do puzzles or play with water and sand. These activities help me shift my thoughts, release tension, and find my balance again. They give me something to hold on to when everything feels like too much.

Because I can be restless, ask many questions, and need extra attention, people do not always respond with understanding. They cannot see what is going on inside me and do not always understand me. My mum and dad try very hard to listen to me and are learning more and more about what I need. At the same time, they feel how intense this can be and how challenging it is to keep finding the right balance and giving the right amount of attention every day.

My mum in particular is in contact with peers and communities of people who are also affected by Dent disease. There are still many unanswered questions and much remains unclear. Every day is a search for the right nutrition and a good energy balance. Because the condition is so rare, many of the (often vague) symptoms are not always well known to doctors. That is exactly why sharing experiences and finding recognition and understanding in others is so valuable. We are not alone in this.

Dent disease is always there, and it is something we must learn to live with. Because it is invisible from the outside, misunderstanding is never far away. That is why it is so important that there is growing awareness of (rare) kidney diseases, so that everyone can receive the right care, support, and guidance as early as possible.