Live with the Sturge-Weber syndrome: Carla's struggle for light and love

Live with the Sturge-Weber syndrome: Carla's struggle for light and love

Weilen u.d.R., Deutschland - Carla Ordowski, a 16-year-old student from Wohn, etc., lives with the Sturge-Weber syndrome (SWS), a non-hereditary disease caused by a gene mutation in GNAQ gene. This disease is often shown by a congenital port wine -colored stain on the face, as well as neurological anomalies such as glaucoma and epilepsy. Carla's state means that she is blind in the left eye and has visibility outline in the right eye. In addition, she suffers from hemiparesis, a half -sided paralysis that severely limits its mobility. According to Swabian Carla already developed her first fragrance at the age of 11, which for the family a very stressful phase.

The Ordowski family, consisting of Jutta Mattes-Ortowski, Stefan Ordowski and her sports enthusiastic son Jacob, has actively committed himself to the Sturge-Weber-Syndrome interest group, which offered you important support. "We went through hell with our child," Jutta describes the challenges they had to deal with with Carla's illness. Despite the difficulties, the family often travels to specialists, since the Sturge-Weber syndrome in Germany is very rare, with fewer than 25,000 affected people. Therefore, visits to the Elisabeth Clinic in Berlin are necessary, where Carla receives facial changes.

challenges and medical treatments

The treatment options for stunge-weber syndrome are limited and mainly aim to control the symptoms such as the epileptic seizures. Carla underwent a hemispherectomy , in which the left brain has been operated operatively from the right. This drastic measure was able to significantly reduce seizures, but the time of such operation is often controversial and must be decided individually for each patient. When deciding on surgical -therapy intervention, factors such as the severity and frequency of the seizures as well as the imaging findings play an important role.

Carla is a student at a special school and visually impaired school in Schramberg-Heiligenbronn and has not been discouraged despite her restrictions. Your family has constructed a specialized loft bed to make everyday life easier. Another aspect of coping with life is active participation in a local football fan club, in which her father also works as a coach. The family sees themselves as a winner in different areas of life, also in football and show dance, and is in close contact with friends and other supporters.

The forecast and everyday life with SWS

The forecast for patients with stumps-weber syndrome is different. Many - like Carla - experience epileptic seizures in early childhood that do not always respond well to the therapy. It is estimated that around 30-60% of glaucoma patients are affected, which increases the risk of visual impairments. According to orpha , the natural course of the disease often leads to cognitive impairments that can further restrict the quality of life.

In the Ordowski family, however, a positive attitude has developed. Jutta compares life with Carla with a "trip to Holland" - despite the unexpected challenges, there are also special beauties and moments that enrich life. You and your family organize your life around the therapies and support friends, which is invaluable for you.