Garbage jam in the neurons
A rare inherited condition, neuronal ceroid lipofuscinosis, slowly destroys the brains of affected children. There is still no cure, but initial research successes give hope.
At the beginning, doctors still doubted Sarah Marquard's vision problems. However, the parents of the then six-year-old were convinced that something was wrong with their daughter's eyes. They got more opinions. When the little one was diagnosed with juvenile macular degeneration in 2014, the uncertainty initially seemed to have come to an end. Over the course of this disease, parts of the retina gradually deteriorate until those affected can hardly see. Sarah's vision also continued to fail, and eventually the girl became completely blind. The Marquards observed with concern that the little one was also becoming more and more absent-minded.
The NCL Foundation, a non-profit organization, uses donations to support research into childhood dementia and raise awareness of the disease.
More about the Marquard family and Sarah's life with childhood dementia can be found on her Facebook page.
It was only by coincidence that they brought their daughter to the University Hospital Hamburg-Eppendorf, one of the world's leading centers for children's dementia, for an examination. Here, the doctors quickly recognized the seriousness of the situation: the then eight-year-old was not suffering from macular degeneration, but from neuronal ceroid lipofuscinosis (NCL) type 3. In addition to cells in her retina, those in her brain are also relentlessly dying.
The rare disease is barely on the radar of most medical professionals. As in Sarah's case, it often takes several years before those affected receive the correct diagnosis…