Two girls from East Saxony suffer from neurofibromatosis type 1, an incurable disease. Despite all the worries, the seven-year-old twins have very specific dreams for the future.
“We don’t have the word tumor, we call it Knubbel,” says Katja Franke, briefly watching her two daughters, Emma and Lotte, frolic in the domed hall of Dresden’s main train station. The two seven-year-olds from a small community in East Saxony are in the limelight that day. The occasion is an art exhibition on the subject of “rare diseases”, which shows works by 20 people affected in ten train stations nationwide. The twins suffer from neurofibromatosis type 1, an incurable disease.
“I have a lump under the skin on my neck that you can feel too. The lumps grow on the nerves, it can be very painful! Some have to be removed by a surgeon and can still come back.” Emma wrote these sentences in a profile, under a drawing that shows her hand in hand with her sister in a flowery meadow. Both have a strong shock of blond hair in the picture. That’s for a reason. “Lotte says that her hair became thin after chemotherapy, that’s probably why she painted it like that,” says her mother.
Emma was diagnosed four years ago
Emma also noted in the profile what the disease was doing to her. “Sometimes it’s hard for me to get up in the morning. And because the lumps can grow almost anywhere in my body, my parents and the doctors are always worried about me and my twin sister. That’s also why we keep going far away for examinations.” Together with Lotte, she is a long-term patient in the university clinics in Dresden and Hamburg. Emma received her diagnosis in 2018 when she was almost four years old. A large bump grew on the side of her neck.
“Until then we were healthy and thought we had four healthy children,” said mother Katja Franke. The family also includes 14-year-old Maxi and eleven-year-old Tim. Even before the operation, Emma had lost a lot of weight. After analyzing the removed tumor, certainty soon came. With the help of a magnetic resonance imaging (MRI), the doctors found another tumor on the eye. “Then that was also confirmed with the twin sister. She has tumors on both visual pathways,” explains the mother. Until then, it had never been noticed that Lotte only had half the eyesight.
Since the tumors cannot be operated on, Lotte had to go to the Dresden University Hospital for chemotherapy from March 2020, for 70 agonizing weeks. When Lotte was almost done with it, the doctors sent Emma for a full-body MRI. The next bad news followed: The tumor operated on in 2018 had grown back. It too can no longer be removed because it spreads into healthy nerve tissue. “Thank God there is now a drug on the market that was previously not approved,” says Katja Franke. Since then, the tumor has at least stopped growing: “That’s a huge step forward for us.”
There are too few experts for many rare diseases
Min Ae Lee-Kirsch researches diseases like the one the twins have – she is a professor at the University Center for Rare Diseases in Dresden. “Rare diseases are usually very complex and variable in their clinical picture. They are therefore still not recognized in time and treated adequately,” she reports. The diseases are often chronic and are associated with permanent restrictions not only on health but also on quality of life. This presents patients and their relatives with major challenges in everyday life. And: For many of these diseases there are no causal therapies and too few experts who are familiar with them, reports the expert.
“In order to better understand the causes of rare diseases and to be able to treat them, more research is needed and more incentives for the pharmaceutical industry to develop new drugs for a market that is not economically lucrative because it is very small,” explains Lee- Cherry. To change that, a national action alliance was founded in 2010 with the participation of two federal ministries. There are now centers for the treatment of those affected at almost all university hospitals nationwide, and the Alliance for Chronic Rare Diseases (axis) serves as a network.
By her own admission, Eva Luise Köhler, wife of former German President Horst Köhler, became acquainted with countless fates of those affected when she was involved as a patron of the Axis. “Children who have little left to live, parents or partners who hope for healing every day, patients who have to overcome additional hurdles in everyday life,” says the patron in a video message accompanying the exhibition. In Germany alone, more than four million people are affected, whose illnesses are often life-shortening. Most need lifelong support.
“We try to make the best of it,” says the mother
In 2018, the certainty of the incurable disease hit the Franke family like a low blow. “The diagnosis knocked you out of your shoes at first. There are always ups and downs for the girls, also for the others. It’s a continuous sine curve, it doesn’t stop,” says the mother. Of course you try to explain everything to both girls in a child-friendly way. That’s why we always talk about the knob. But they would still ask again and again why a new chemo port had to be placed and a new examination was due.
“We try to make the best of it, don’t sit in the corner and cry,” says Katja Franke. The two older children would also suffer greatly from the situation, although they did not always show it. “The disease changed our lives. At first we fell into a hole.” The outcome is uncertain, the life expectancy of those affected varies greatly because the courses are so different. Some would get through life with a few stains. “The doctors assume that Lotte and Emma will have a serious course.”
Nevertheless: anyone who sees the bright girls cannot believe in an early end. Katja Franke thinks that the illness allowed the twins to mature. “Lotte has become a small adult due to the chemotherapy. That makes me a little sad as a mother.” Actually, Emma and Lotte should have spent all the time playing in kindergarten and not in the hospital. Both girls, who look like Erich Kästner’s “double Lottchen” in their self-portrait for the art exhibition, already have plans for the future. Emma wants to be a researcher, Lotte a doctor – to help herself.