Parents sound the alarm

Dangerous disease often remains undetected!

Every life counts! MPS sufferers call for a rethink in the domestic healthcare system.(Bild: MPS Austria/merydolla)

The MPS I genetic defect attacks body and mind, but early diagnosis can prevent worse - Austria is lagging behind, much to the annoyance of those affected.

Mucopolysaccharidosis type I - MPS I for short - is a rare but cruel disease. If left untreated, it slowly destroys the body of affected children, attacks the brain and often leads to early death.

The bitter truth is that these tragedies could be avoided - if those affected were tested in time. Because with MPS I, every day counts. Only an early bone marrow transplant can save the brain and prevent the most severe damage.

We have been fighting for 40 years for better care for those affected. Now is the time for newborn screening.

Michaela Weigl, MPS Austria

Bild: MPS Austria

But in this country, the genetic defect is still not tested in standard newborn screening, and some diagnoses are made far too late: "While other countries have long since taken action, Austria looks on and is thus squandering opportunities for life. The USA is further ahead in this respect," says Michaela Weigl, Managing Director of MPS-Austria.

Every life counts! MPS sufferers call for a rethink in the Austrian healthcare system.(Bild: MPS Austria)

Diagnosis across the board with just a few euros
Screening would only cost a few euros per test, the experts calculate - but those who are diagnosed with MPS too late pay many times over: lifelong enzyme replacement therapy, care, rehabilitation and incredible suffering. "If detected early, MPS I is treatable. Recognized late, it destroys lives," is the sad conclusion.

In an interview with Krone, Weigl brushes aside concerns about false-positive diagnoses: "My daughter also has a form of MPS herself, so I know what I'm talking about. And believe me, the psychological burden of late or missed diagnoses is much greater."

In addition to screening, those affected also insist on a rethink in the social sector. Many MPS families suffer particularly in the domestic "health insurance jungle", with deductibles or authorizations for home therapies varying from country to country and insurance company to insurance company ...