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Rare Disease Little Emma can now lead a more normal life again
Patients with rare diseases often have to wait years for help. A little girl from Saxony was faster. Doctors at the University Hospital Carl Gustav Carus Dresden could help her. The baby can now lead a normal life again.
Rare diseases are relatively common
February 28 is International Rare Disease Day. Experts use this day to draw attention to the problems and concerns of those affected. According to the European definition, a disease is considered rare if it affects less than five in 10,000 people. Around four million people in this country suffer from one of the approximately 8,000 rare diseases that so far have a name. This shows that these diseases are not so rare. It usually takes many years for a patient to get the right diagnosis. A little girl from Saxony was faster.
Physicians in Saxony were able to help a little girl who was born with a rare disease. The baby was born with high fever and severely inflamed skin. Now it can lead a normal life. (Image: Robert Przybysz / fotolia.com) Started with a high fever
The University Hospital Carl Gustav Carus Dresden reported in a recent communication about a little girl with a rare disease that could be helped in the clinic.
"Emma's start in life began almost a year ago with high fever and severely inflamed skin. The physicians of the Ostsächsische maternity hospital treated the newborn immediately with antibiotics, as they suspected a bacterial infection. But the therapy did not strike, "writes the Dresden clinic.
The physicians then researched for other possible causes and concluded that it could be a rare autoinflammatory disease.
First suspicion proved correct
According to the information, the causes of Emma's excessive inflammatory response were apparently not infections or injuries, but a malfunction of the innate immune system.
The paediatricians then transferred the newborn to the Department of Paediatrics at the Dresden University Hospital, which specializes in, among other things, the diagnosis and treatment of autoinflammatory diseases.
"The first - later proven correct - suspicion of a rare disease and the timely referral to Dresden saved Emma from serious consequences of her illness," the statement said.
Effective therapy has only been around for ten years
As the doctors said, a genetic test proved that the girl suffers from a so-called multidisciplinary inflammatory disease; more precisely on cryopyrin-associated periodic syndrome (CAPS).
This means that many of their organs are affected by inflammation, which can lead to significant permanent organ damage. According to the information, there have been effective therapies for CAPS patients for just over ten years.
Previously affected children had a life expectancy of far less than 20 years. "By starting a specific therapy early, Emma can now be saved from this fate and grow up healthy."
Recognize and treat rare diseases faster
"If I see how good Emma is today, and that she can live a normal life despite these medications, then I'm incredibly relieved and happy," said Emma's mother to the "Dresdner Neueste Nachrichten".
"Emma is a good example of how a structured approach allows faster recognition and treatment of rare diseases," says Prof. Reinhard Berner, director of the Department of Paediatrics and Adolescent Medicine.
"We were lucky that we could make a quick diagnosis."
Patients with rare diseases often only get the correct diagnosis after a long journey. In many cases, valuable time passes to diagnosis and targeted treatment. In order to improve this situation, nine university hospitals with centers for rare diseases are receiving subsidies nationwide. (Ad)