Rare diseases niemann pick when children show symptoms like old people focus online

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Affected people forget how to walk and eventually can no longer speak: Niemann-Pick is a rare disease that causes people to unlearn and forget early on, as in old age. A mother reports on the long road to her daughter's diagnosis.

Niemann-Pick is colloquially known as infantile Alzheimer's because of its symptoms.
Years of uncertainty and many visits to the doctor are part of everyday life for those affected by the disease.
Early diagnosis is vital to slow down the progression of the disease.

It took four agonizing years before Jana and Dirk Hirschfeld finally learned what was wrong with their daughter. It all started shortly after Luisa was born in 2009. The baby had a spleen and liver that were much too large. This led to the fact that the little girl simply could not gain weight.

At the time, doctors suspected that Luisa might be suffering from a serious organ disease. But this amption was not confirmed. The problem seemed to be easily solved with special food: Luisa gained weight. Was henceforth a completely normal child for the outside world.

The suffering continued

Only the alarm bells in her mother's head never completely stopped. Because of her work as a curative teacher, Jana Hirschfeld had a special feeling for developmental disorders in children.

She noticed, for example, that her daughter did not talk as much as other children. Doctors excused the behavior by saying that the little girl had been through a lot.

Uncertainty became torture

At times, the Hirschfeld family was placated by these arguments. But Luisa stumbled again and again. Children's sports were abhorrent to her. One day the girl just fell off the chair for no reason. The parents finally wanted to know what was wrong with their child.

This was followed by countless examinations and hospital stays, sometimes humiliating discussions with doctors, strange looks and comments from neighbors and other mothers as to why the child seemed so tired or moved so differently.

After four years, the diagnosis finally followed

"There are days that you just want to cross off the calendar," reports Jana Hirschfeld. Weepy nights and deep despair were part of it for both parents.

In October 2013, the uncertainty finally came to an end. However, the diagnosis was no relief: Niemann-Pick C.

Childhood Alzheimer's

The disease, often called "childhood Alzheimer's" because of its symptoms, is a hereditary metabolic disorder. The body's own cholesterol is deposited in various organs, such as the liver, brain or spleen. The fat molecules cannot be broken down properly due to a genetic defect. The symptoms vary depending on the organ affected. Onset of disease varies widely. Many patients stumble repeatedly and can no longer perform more complex movements, such as riding a bicycle.

Their speech becomes slurred and suddenly it seems as if the sufferer loses all ability to speak. The condition resembles the symptoms of someone with Alzheimer's disease. This is where the colloquial name of the disease comes from: childhood Alzheimer's disease .

Fear of the future

The whole thing now also explained why Luisa walked so unsteadily and did not speak as much as her peers.

But how should it continue?

Positive attitude of parents makes life easier

Rare diseases niemann pick when children show symptoms like old people focus online

Jana Hirschfeld sums it up in one sentence: "We put all our energy into it. I know I have a special child, but I still love my life."With this attitude, the parents have since overcome all hurdles and problems together with Luisa.

So far, there is no cure for patients with Niemann-Pick's disease. Only the active ingredient miglustat, which was only approved in Germany in 2008, slows the progression of the disease. That's why an early diagnosis of the disease is often vital.

Patients often die very early

"The worst part is that we just can't plan for it. There is only from now to tomorrow. The whole thing simply wears on the nerves."For her parents, their daughter is their sunshine and they speak of "special luck", because the little one can live almost normally until now.

Unfortunately, not all Niemann-Pick sufferers fare so well. Many already live in wheelchairs. Are dependent on others. Most die in the first three decades of their lives.

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