Shwachman Diamond Syndrome (SDS), a very rare congenital genetic disease (incidence: 1: 75,000). autosomal recessively inherited which means that the parents are usually not ill.

Each parent has the same ´spelling error´ on the same gene, which comes together with a chance of 25% when the child is born.

To meet someone in life who has the same gene in them, to father a child with them, with a 25% chance of producing the syndrome, is about like winning the lottery., but not quite as pleasant.

The Disease

Discovered 1964 by Bodian and colleagues and in the same year first described by Shwachman and Diamond, the Syndrome is one of the little-researched diseases.

The disease is characterized already in childhood by:

• Störung des Knochenmarks, der Blutbildung

• fehlende Bildung von Verdauungsenzymen in der Bauchspeicheldrüse

• Entwicklung einer Leukämie oder MDS

Other features may include:

Severe to life-threatening and frequent infections

Since the bone marrow does not produce enough blood cells, the body cannot offer enough resistance to bacteria, for example in the case of NeutropeniaA harmless infection often leads to dire progress in SDS patients.

Malnutrition and deficiency of the fat-soluble vitamins ADEK

Due to the lack of digestive enzymes in the pancreas, neither fat can be digested by itself, nor are vital vitamins absorbed. The syndrome is often not recognized until late, so that babies are already suffering from underweight, as the rich breast milk or baby food cannot be used by the intestine.

Short stature

Shwachman Diamond patients are mostly of a delicate stature.

Skeletal malformations

For example the thorax. Constriction can lead to massive problems with respiratory infections, since breathing is impaired. But other bones can also be affected.

Liver and kidney problems and much more

The statistics so far show that the liver values, which are usually too high, level off in adulthood. But not always. It is assumed that there are increased values ​​because the entire gastrointestinal tract is irritated by the Pankreasinsuffizienz irritiert ist.

There is no cure yet

Symptomatic treatment consists of replacing the missing pancreatic enzymes. The patient takes this with every meal so that it can be digested.

Treatment with Neutropenia is used for G-CSFthrombocytopenia or erothrocytes) are also often affected. The bone marrow can become depleted for a variety of reasons. In addition to leukemia, kann sich ein myelodysplastisches Syndrom (MDS) can also develop. Then a stem cell transplant is necessary, otherwise the body cannot keep itself alive.