In Lucerne, in many corners, colorful, children painted posters and equally colorful label emblazoned on the Taxis and, of course, on the car of Mario Schenkel. The Message: "Save Valeria". Leg is the father of Valeria. The daughter came over a year ago with a very rare genetic disorder to the world. Now the parents using Relatives and friends gather in an elaborate campaign money for therapy.
In the house of the leg, a little outside of Lucerne, with views of the Pilatus, crying Valeria quietly on the Arm of her mother. "She's teething," says Alexandra leg and the Small is a Dummy in the mouth. Quite normal in the age of the infant has teeth already two Mice at the bottom, and the upper incisors sticking out. In many other developing Valeria, however, is normal. "You will never be able to laugh or run," had been told by a doctor after a genetic test of the shocked parents of five weeks according to the requirements of Valeria's birth and you will not reach adulthood.
After four days of the newborn stopped breathing
Alexandra thighs tells about the first time after the birth of her daughter, calm and composed. She remembers each event. Such as Valeria, four days old and just home, the first Time stopped delivery to breathe and blue. "Lucky, there was just the midwife," says the mother. She immediately took the infant to the emergency room. Valeria came to the intensive care unit.
The suspicion was, first, that the respiratory center not functioning properly. The infant was given drugs. After a week in the hospital, the little family was back home. Then the spasm came seizures. Suspected epilepsy. "You got at least ten different drugs," says Mario legs. Nothing helped. An investigation of the MRI scanner under General anesthesia showed no Tumor, the blood was normal. Finally, the doctor ordered the genetic test. More than 780 genes were looked at, one was changed.
"We saw at first only the yellow sticky notes," recalls Alexandra leg of the Visit of the neurologist in the hospital. It KCNT1 stand "". The doctor asked the parents to come the next day, a detailed conversation. Alexandra and Mario legs were afraid. Why didn't the doctor say: "Do not Worry"?
the daughter could not help, the Doctors said
"The diagnosis that Valeria has a rare genetic disorder and they could not help her, for me was like a nightmare," says Alexandra leg, which now sits on the floor next to her daughter. "I just thought: This can't be true."
Valeria lies on a sheepskin. She is now lying dormant. Suddenly, she begins to quietly snore in front of him. Very sweet. The parents smile.
KCNT1 is a Gene that is important for the function of nerve cells. It forms a channel in the cell membrane that regulates the electrical conduction of the nerves. In the case of Valeria, the channel is deformed. The nerve cells are overactive and can not communicate properly with each other.
"We don't want to alleviate just the symptoms," says Mario legs, "but the cause of the fight."
Worldwide, there are only an estimated 100 patients who have a Defect in this Gene. They suffer from various forms of genetic epilepsy, which is usually with drugs to treat. The great majority of those Affected are unable to help, wrote last year an international team of researchers in the journal "Neurology". The scientists had found in twelve patients, a change in the Gene KCNT1. In one of the cases, an old heart, the sodium channels seemed blocked, quinidine. In the case of Valeria, however, is not. The substance was able to reduce the seizures, which were more and more frequently.
"Today, Valeria had a little spasm," says Alexandra thighs and caresses the round baby cheek of her sleeping daughter. It is almost noon. On good days, you have five to ten seizures, to bad it had 20. "Then the arms and legs become stiff, and a look on his face," says Alexandra legs. But there were also nights where the Little one Wake up every half hour due to a seizure and wines, adds the father.
"We don't want to alleviate just the symptoms," says Mario legs, "but the cause of the fight." So the diseased Gene and rendered harmless. This is so far succeeded in this genetic defect never. Nevertheless, the father in the Internet has made the search for experts and Leonard Kaczmarek contact. The neuroscientists from the Yale University in New Haven (USA) has described the Gene for the potassium channel KCNT1 for the first time in 1998, in the brain of rats.
In the case of another child with a similar therapy
had a Few years later, the Doctor Rima Nabbout reported from the Hôpital Necker Enfants Malades in Paris with Kaczmarek. The epilepsy specialist under a dozen sought the children, who suffered from an unusual Form of epilepsy. Genetic analyses showed that half of the small patients, a change in the Gene KCNT1.
"My life has changed since then, genetic testing of patients," says Kaczmarek on the phone. The neuro-scientist is conducting, although still at a basic research, is now investigating but the mutations from patients into mice – the specific change of Valeria.
Together with a Team of neuro-geneticists, and physicians would like to help Kaczmarek, the family leg. The hopes rest on a new technique that allows genetic defects to treat virtually at the root.
The process is a challenge by the Team in the US, but in another case, a six-year-old girl with a rare genetic disorder. Within just one year, the child could be treated and the progression slowed down at the end of disease, the nerve cells are concerned, at least. The results are not yet published.
Therefore, the researchers involved are still covered. Including David Fischer, Charles River is. The US company conducts preclinical studies with new active substances. Fischer's colleagues have been involved in the treatment of the child from the United States, and he now helps Galerias parents.
In the Winter could be the treatment start
"first We will test the specific Valeria produced ingredients in our labs to your cells," says Fischer. After further Tests, it could go quickly: "If all goes well, Valeria get in the Winter the treatment." Previously, however, the US health authority must approve the FDA specifically for Valeria-designed substance. Fischer is confident: "In such special cases, the experimental therapy can be approved quickly."
Normally it takes around 15 years for a new active substance may be used as a drug – but so much time Valeria has not. "In addition, the Chance that the treatment is working, the greater, the younger the patients are," says Fischer.
The therapy, which have implemented the requirements of Valeria's parents is not paid by the health insurance or disability insurance. "We need about 1.8 million Swiss francs," says Mario legs. Half of the money they had already collected through their own assets, and a lot of donations. Even some school classes have gathered in Lucerne for Valeria, says his wife. "Neighborhood kids chocolate have melted Easter Bunny, this cake is baked and sold," says Alexandra legs. "Last week, four children brought the proceeds of more than 600 Swiss francs in the past."
In the hallway, little pink shoes are. They have no scratches. Valeria can't run. You don't, is crawling holds your head not alone. "Sometimes, but she is lolling in the morning in a half-sleep and stretches out his arms and legs," says her father. "It looks quite normal."
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Created: 19.05.2019, 00:24 PM