The special case – Menacing CBL-C defect


Greven in late summer 2012. On the football pitch of the small town between Münster and Osnabrück, children and youths play football on this mild afternoon.

“Yes, I liked playing football.”

Told with melancholy the today 19 year old Jakob. At that time he could still walk and jump, today he sits in a wheelchair and has to learn to walk again.

“Well, I noticed that I stumbled now and then, so could not walk properly, it also happened that I did not eat and drink properly.”

The boy's health deteriorates dramatically in the fall of 2012, his mother recalls.

“If I remember correctly, six weeks, twelve weeks, all at once, he suddenly could not talk properly anymore, he was losing more weight, so he always refused food, and then it happened he could walk worse and worse, never mind. “

The family is in shock, nobody can explain what the boy is suffering from.

“We went to different doctors and they did a lot of examinations, they took blood, also from the back, and they did not find out anything, and it was nothing remarkable.”

No clinic, no doctor can help

Whatever the physicians in the practices and clinics examine, they will find nothing! Nobody can help the obviously sick boy from Münsterland. What Professor Thorsten Marquardt, Head of Congenital Metabolic Diseases at the University Children's Hospital Münster, can understand.

“Well, there are thousands of different diseases, and the frequent are quickly diagnosed, because every doctor knows, the diseases that are rarer, which of course are also unknown to the doctors, and there it is quite possible that it It takes many years for the right track to be found. “

Even Thorsten Marquardt, a proven specialist in rare childhood diseases, suspects that he and his team would have had to search long after the cause of the disease. Why Marquardt then quickly finds the right track is an incredible story of coincidences and coincidences. It all starts with the fact that the …

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Original Language of Article: German
Website language Original: Germann
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