The 23-year-old Berliner Hannah suffers from a so-called POMC deficiency. The extremely rare genetic defect causes the young woman is always hungry.
Hannah is one of only 50 patients worldwide with the condition POMC deficiency. It lacks the appetite-suppressing hormone proopiomelanocortin (POMC). According to the German self-help umbrella organization Axis is such an extremely rare disease, if there are less than five patients among 10, 000 people. On February 28, the "World Day of Rare Diseases" will take place. He should create more attention for those affected.
Hannah's tale of suffering begins with her birth
In the summer of 1994, the girl is born. Your liver is not working right from the beginning. The doctors of the Berlin University Hospital Charité diagnose a congenital cortisol deficiency and prescribe their hydrocortisone. To this day she takes the means. "It helped Hannah to survive, " says the mother in an interview with Focus. "But her suffering was not over."
Already as a baby, Hannah gained weight faster than average. At one year she weighed 20 kilograms. That's about four times what peers weigh. "She was always hungry, you could never get enough of it, " remembers Father Christian. The family tried to counteract with physiotherapy, nutritional advice and cures. Without success. Hannah was getting fatter. To make matters worse, she was delayed in her physical development. She did not learn to walk until she was two years old.
No experts, no diagnosis
Four years after Hannah's birth, the breakthrough suddenly came: at the pediatric endocrinology clinic, where children with hormonal imbalances are treated, Hannah was diagnosed by a working group with Heiko Krude's involvement in an unprecedented clinical picture: POMC deficiency.
Heiko Krude, who heads the Charité Rare Disease Center today, explains, "The late diagnosis, as in Hannah's, is a key issue in our work." For such rare diseases, there are simply too few experts, which in turn complicates the diagnosis. Hannah's problem is not so rare, as Krude further explains: "The single disease is rare - but if you count all the patients in the disease group, you come to about one percent of all people."
The rare disease has many faces: from skeletal foot deformities on eye diseases to POMC deficiency. Often genetic defects are the cause.
In the meantime Hannah weighed 170 kilograms
At Hannah, it took from the diagnosis to the start of treatment for 17 years. A time that was indescribably cruel to Hannah and her family. "It was like being in a horror movie: I was an addict, kept on growing and nothing helped, " says the 23-year-old. In the end, Hannah weighed 170 kilograms. "I only had a few friends and could not participate in almost anything."
A new drug from the US should help
Since January 1, 2015, the Berliner has taken part in a study with a new drug from the USA. It is intended to remedy the rare defect of eating regulation and permanently block the overpowering feeling of hunger.
The first successes came quickly: "If you're hungry all your life and suddenly you're not, it's like a dream, " says Hannah. Today she is normal weight, can do sports and finally has many friends. She recently completed her apprenticeship as an Office Management Assistant.
And her family is grateful that Hannah is finally getting better: "It's like a miracle, " says mother Birgit. "For 20 years, we were only focused on this disease, now we are relieved and freed."
But her genetic defect will accompany the young woman throughout her life. Every day she injects the drug into the thigh. Added to this is the daily dose of hydrocortisone. There are only a few side effects: Her hair has become darker - previously they were red, now they are brown. For infections, Hannah must be extra careful, she is much more vulnerable. But she is still happy: "It's a whole new life."
"Namse" wants to help other victims
In order to be able to help patients like Hannah better and faster in the future, doctors from all over Germany are joining forces in the network "Translate Namse". "Namse" is the short form of "National Action Plan for People with Rare Diseases". A total of nine medical centers, including those in Heidelberg, Essen, Bonn and Hamburg, are involved in the project.
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