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Rare disease: Little Emma can now lead a more normal life again

Rare disease: Little Emma can now lead a more normal life again


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Little girl suffers from rare illness: Emma is doing better again
Patients with rare diseases often have to wait for years to get help. A little girl from Saxony went faster. Doctors at the Carl Gustav Carus Dresden University Hospital were able to 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 definition valid in Europe, a disease is considered rare if fewer than five out of 10,000 people are affected. Around four million people in this country suffer from one of the approximately 8,000 rare diseases that have so far had a name. This shows that these diseases are not that rare. It usually takes many years for a patient to get the correct diagnosis. A little girl from Saxony went faster.

Started life with a high fever
The University Hospital Carl Gustav Carus Dresden reports in a current message about a little girl with a rare illness, who could be helped in the clinic.

“Emma's life started almost a year ago with a high fever and severely inflamed areas of the skin. The doctors at the East Saxon Maternity Hospital immediately treated the newborn with antibiotics because they suspected a bacterial infection. But the therapy did not work, ”writes the Dresden clinic.

The doctors then researched other possible causes and came to the conclusion that it could be a rare auto-inflammatory disease.

The first suspicion turned out to be 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 pediatricians then transferred the newborn to the clinic for pediatric and adolescent medicine at the Dresden University Hospital, which specializes in the diagnosis and therapy of auto-inflammatory diseases, among other things.

"The first - later proven correct - suspicion of a rare illness and the timely transfer to Dresden saved Emma from serious consequences of her illness," says the message.

Effective therapy has only been around for ten years
As the doctors announced, a genetic test showed that the girl was suffering from an inflammatory multi-system disease; more precisely on the 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, effective therapies for CAPS patients have only been available for a good ten years.

Previously affected children had a life expectancy of less than 20 years. "With the early start of a specific therapy, Emma can now be saved from this fate and grow up healthy."

Detect and treat rare diseases faster
"When I see today how well Emma is doing and that she can lead a normal life despite these drugs, I am incredibly relieved and happy," said Emma's mother to the "Dresdner Latest News".

"Emma is a good example of how a structured procedure can identify and treat rare diseases more quickly," says Prof. Reinhard Berner, director of the Clinic for Pediatric and Adolescent Medicine.

"We were lucky that we were able to make a quick diagnosis."

Patients with rare diseases often only get the correct diagnosis after a long journey. In many cases, valuable time passes until diagnosis and targeted treatment. In order to improve this situation, nine university hospitals with centers for rare diseases nationwide receive funding. (ad)

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