Alström syndrome

Hello, my name is Sárka,

for as long as I can remember, I’ve known that my mum and dad love me very, very much. And I love them too. They always tell me that I’m their dream daughter. They told me how happy they were when mummy brought me home from the hospital. Everyone was so joyful.

The problems began when I was eight months old. That’s when both of my eyes started to shake. The big men in white coats call that “nystagmic eye movements.” We had to go to the hospital, where I went through a lot of tests. But the doctors couldn’t decide what was wrong with me. They mentioned all sorts of illnesses, but none of them seemed right. In the end, they said it might be a viral infection, gave me some vitamins, and sent us home.

But then I started to gain a lot of weight — really a lot. When I was two years old, I already weighed 23 kilograms! Shortly after that, I began squinting very hard because I was afraid to open my eyes. The light hurt them so much. So, we went back to those big men in white, and they did more tests in the eye clinic. They said it was photophobia, gave me dark lenses for my glasses, and that was it.

Mum and Dad kept looking for answers from those clever doctors, but none came. The doctors couldn’t agree, and instead of helping, things got worse. They sent us home again. We kept returning to the hospital, but the doctors didn’t really help us.

Mum and Dad didn’t know what to do next. No one could give them proper advice. They wanted to fight for me like lions. So, they started looking for help beyond our borders. In the Czech Republic, they finally found doctors who were wiser. They said it was Alström syndrome — a very rare genetic disorder. Apparently, one of my genes is broken. They said the chances of having it are incredibly small.

Now I’m five years old. I have to follow a very strict diet, so mummy cooks everything I eat — only what I’m allowed to eat. I now weigh a beautiful 20 kilograms. Once a year, the doctors check my heart, eyes, kidneys, and a few other things. Because of my illness, I might not grow very tall, but with mummy and daddy, we’ll manage. There’s no cure for my condition, only a way to fight it.

But everyone is happy because the smart doctors abroad said that I can be just as clever as other children. It’s hard, though — I wish I could see like other kids, do what they do, eat what they eat, and play with them. But what helps me the most is that everyone at home loves me so much. And I love them too.