Moritz's family

Hello, I'm Moritz. I'm a cheerful, curious boy of seven and a half and I enjoy my life to the full.

Some things are different for me: I can't walk, I have balance problems and I can't speak – instead I communicate with sounds that my family often understands. I have spasticity, mainly in my legs. When something interests me, I'm as fast as a whirlwind on all fours. ☺

I've known therapy since my first birthday. My impairments are caused by a de novo genetic defect called DNM1L, which is rare worldwide. With it, the mitochondria don't work properly and produce too little energy. Until we had the diagnosis, it was a long road full of tears and helplessness. The pregnancy and my first year of life were normal; only my development was somewhat delayed.

At one year old I started physiotherapy. Many examinations followed, including an unremarkable brain MRI. I developed slowly, and there was no major progress. At the same time we started hippotherapy and early intervention. Only in June 2021 did we get the diagnosis:

DNM1L. The doctors explained that many children with this defect die early, that seizures can occur and that there is no cure – only treatment of the symptoms. For my family, the world fell apart.

Shortly afterwards we learned that it was a spontaneous mutation. My sister was healthy. Even so, our everyday life was marked by grief, fear and many open questions. A month later I had a seizure, and further EEGs were abnormal. In Salzburg, a doctor asked my parents the difficult question of whether they would want resuscitation in an emergency.

Despite everything, we found our way back into life. Today I enjoy my time, have developed surprisingly well cognitively and understand almost everything. My cheerful nature shows my family every day what matters in life: the little things and moments together.

The diagnosis hardly changed our everyday life – the therapies stayed the same. But we were often left on our own. Only during a rehab stay at Kokon Rohrbach Berg did we get concrete help with support benefits. Over the years we have met many parents in similar situations. The company Orthotechnik Falkensammer has been particularly helpful, providing suitable aids with a low personal contribution.

We now regularly go to rehab in Austria and to the Adeli Center in Slovakia. While the ÖGK (Austrian health insurance) covers stays in Austria, we have to pay for much abroad ourselves. The constant disputes with authorities such as the PVA (pension insurance) to get the right care level are a burden.

In addition, after 27 months of hospice leave and three months of care leave, it is no longer possible to stay at home permanently with a child with a disability.

This is the short version of our path to a diagnosis.