Our daughter Maje Marie was born in Hamburg in autumn 2012 and was discharged from hospital on the same day as a healthy baby. After a few months it is noticeable that she is slower in all her movements than other children of the same age. Crawling is one of the biggest challenges for her, but that “would be all right” if we would only train with her diligently, we are told. Maje is ambitious and makes progress, soon she can sit and stand up alone. But every movement still seems uncertain and shaky. Especially in the shoulder and neck area. The head sits so wobbly on her neck that she wears a protection that cushions her when she falls on her head.
Finally, the paediatrician refers us to a neuropaediatrician, who determines a maximum elevated CK value (creatine kinase) in Maje’s blood, which confirms the suspicion of a muscular disease; she is just 14 months old. The telephone number of a physiotherapist is all we take with us from the hospital, otherwise there is nothing we can do anyway, says the neurologist. The feeling of powerlessness and ignorance about the future are plaguing feelings that have accompanied us since the diagnosis, because muscle diseases are currently incurable and their courses are very different.
After a misdiagnosis, the Penal Genetic Diagnosis 2018 gives us the final diagnosis: LGMD 1b, a laminopathy manifested in early childhood, which affects not only the skeletal muscles but also the heart and lung muscles. The disease is progressive, fatal. This changes our view of the future at a stroke. The time we have left as a family with Maje is limited.
Fortunately, Majes heart function is not impaired so far, but her lung strength is already weakened. There is no exact life expectancy for her disease.
Maje is now 7 years old and will start school in summer 2019. She trains diligently every day to maintain the functions she still has. But their muscles cannot become stronger. She has very little strength. Too little to be able to walk on your feet outside the apartment. Too little to pick up a book from the floor or raise her arms above her head. For many things she needs our help, for example getting dressed and undressed, brushing her teeth or taking a shower.
A real chance on the Horizon
In the summer of 2019, we heard about an upcoming research project at the Max Delbrück Center in Berlin, which will focus on mutations on the LMNA gene from 2021 onwards, with the aim of developing a therapy for laminopathies. It’s like winning the lottery! No, actually even greater: it is the hope to counteract this progressive disease!
The Max Delbrück Center has many years of experience in the research of muscle diseases. It has ambitious scientists and the necessary equipment for successful therapy development. The team headed by Prof. Dr. Spuler is currently the greatest hope for the development of therapies in the field of muscle diseases.
Thanks to a generous donation we are able to finance the start of the laminopathy project in Berlin ourselves. The first research year (2020) has thus been initiated. Find out more about the current status of the research project.
In order to be able to continue to finance the project reliably and to advance research into muscle diseases, we are collecting donations that will go directly and exclusively into research.
Every donation helps to win the battle against time!