The twins Cordelia and Catherine are seven weeks old, as Cordelia during a walk her first epileptic seizure. For the family a number of the hospital, starts, stays, followed by countless Tests. Months remains puzzling why the little girl is cramping, again and again.
Only shortly before her first birthday, it is clear that Cordelia suffers from a very rare disease of the X chromosome, the so-called CDKL5-gene defect. A name for your illness has not until today. “I didn’t know what that means, even the doctor could not explain to us much,” Esther Woko, Cordelia’s mother. “Still, I was relieved.”
Meanwhile, Cordelia is three years old. Two to three Times a day the girl has epileptic seizures, the risk of injury is great. For this reason, Woko, watching her daughter constantly about a baby monitor with a camera.
The three-year-old gets Ergo – and physiotherapy, she now starts with the first crawling movements. In addition, they trained, on the basis of a computer Language to communicate with eye control. Own Cordelia can’t sit on a kind of stand-up stand helps you to keep yourself upright and stabilize the muscles.
Rare diseases: in the sum of not more rare
A disease is according to the EU Definition of rare if less than 5 out of 10,000 people suffer from it. To date, more than 6000 rare diseases are described and in the Online database Orphanet listed. In Germany, around four million people are estimated to have, most of them are children.
Cordelia Woko and her daughter were the lucky ones. The doctor came in relatively quickly to the idea to make a genetic test. Often patients from one doctor to the next rush, until you know what you are missing. Because many of the complaints are similar, although more well-known diseases, but in combination no sense.
“Up to seven years can pass on the way to a diagnosis,” says Miriam snakes, the Director of the office of the National action Alliance for people with Rare diseases (NAMSE). The panel advocates for better care of patients. The first points of contact, such as a house or children’s doctors knew little about rare diseases, says snakes. “We need to work on.”
Where there is help
Who is referred from doctor to doctor to find without help, you can contact the Alliance for Chronic Rare diseases (Achse). The network of self-help organisations Concerned, as well as seeking advice of Doctors and other therapists – but no diagnosis.
Further contacts find Affected parents, but also family doctors and specialists in special centres for rare diseases. Currently in Germany, there are far, 32 of these centers, each has its own focus. For this reason, the employees refer in part to other Doctors or clinics.
“Usually you have to submit a request to the first documents so that the center can pre-views of what could be,” says snakes. Subsequently, experts from different fields, are composed of areas such as orthopedics, neurology, and cardiology to discuss case as a team of investigators jointly develop at least a guess.
Those who know their diagnosis, not find like-Minded people in the AXIS – network-even if there is any disease, an appropriate Association. “Our members share, not only about their individual disease problems,” says man. “With your Knowledge and your extensive experience, you will help to close gaps in health care.”
“Alone, you should not go this way.”
The support from a self-help group also Woko finds important. “Alone, you should not go this way,” she advises. Directly after the diagnosis, the mother of four, was informed about the defective gene to her daughter, and came across a club, the parents of CDKL5 children have founded.
“Through the contact it went the same to me much better,” reported Woko. The families meet on a regular basis. In addition, you have closed to a Whatsapp group together to support each other in difficult situations, or to give tips.
Woko advises those Affected to get both organisational and psychological help, be it therapist from social services, parents, friends, or family. In addition, spaces are free important. “You have to be careful,” she says. She even goes regularly to the therapist. “You must not imagine that we need it – no matter how strong you are.”