Milly’s ill, seriously ill, incurably ill.
Milly is handicapped, severely handicapped, severely handicapped in several ways and in need of intensive nursing care.
Milly is a treasure, a sweetheart, a darling.
We: This is Markus, Beccy and our daughter Emilia, called Milly.
We have created this homepage to draw attention to Milly’s cruel disease and to collect donations for the fight against it. But we also want to support and help other parents whose children do not develop healthily and whose lives are therefore marked by fear and insecurity.
What has happened? Since Milly’s early childhood she has been suffering from a severe global developmental disorder. After years of acceptance and grief, we got used to the situation and almost led a normal family life. Despite countless medical examinations the question why and the reason for Milly’s developmental deficits still worried us. The doctors succeeded in diagnosing a very distinct muscle weakness (hypotonia), absence epilepsy and a global delay of myelination of the brain. However, the underlying disease causing these problems remained a mystery.
Then, at short notice, we had an appointment in the Human Genetics Department on 16 January 2017. Using an extensive genetic analysis taking months the underlying disease could finally be identified. As if it had not been hard enough before, the diagnosis was another shock. Our Milly is suffering from a very rare disease called NBIA-BPAN (Beta-propeller Protein-associated Neurodegeneration). This illness leads to the loss of all acquired skills up to complete dementia and a premature death. So far, there is neither an effective method of therapy nor medicine to stop or slow down the disease’s progression. We are in urgent need of donations to push the research on BPAN forward to save Milly’s life.
In the following we not only want to report about the disease, but also introduce you to our Milly. I, Beccy, am going to tell Milly’s story from my point of view. Reviewing the last years is still very hard for me. There are lots of things I repressed long ago and I do not like to think about. Where others could enjoy seeing their children develop, our life was determined by fear and uncertainty. Nevertheless, I try to give an objective, compact and hopefully chronological overview of the events.
We would like to thank you from the bottom of our hearts for your attention, help and support!
Markus and Rebecca Nielbock