The insidious disease gradually damages many organs. Patients don't even know

• Patients with ASMD often go through a diagnostic odyssey. Diagnosis can take up to several years, says Anna Kępczyńska of the Association of Patients with ASMD.
• The disease is constantly progressing, and patients are treated symptomatically for other conditions, he notes.
• Even after diagnosis, it often turns out that there are no medications available and the only treatment left is conservative. In some cases, the therapy is very expensive.

According to the European Union definition, a disease is considered rare if it affects no more than 5 in 10,000 people . Rare diseases affect between 6 and 8 percent of the population of each country.

Most of them are genetic diseases that manifest themselves in childhood, often resulting in disability or premature death.

Diagnosing such diseases can be difficult and often takes years. During this time, patients undergo numerous consultations and tests before they receive the correct diagnosis. Even after a diagnosis is made, it often turns out that there are no medications available , and the only solution is conservative treatment and rehabilitation. In some cases, therapy exists, but it is very expensive and patients must finance it themselves.

The problem affects many patients because although every rare disease is rare, their total number (8,000) means that there are about 350 million people living with a rare disease in the world , about 30 million in the European Union, and in Poland, 2 to 3 million people may suffer from such diseases.

The President of the National Forum for Rare Disease Therapy ORPHAN Stanisław Maćkowiak announced that work on creating a register of rare diseases is coming to an end.

All technical issues necessary to launch the registry have already been prepared

- he noted.

Thanks to the register - as Maćkowiak assures - it will be possible to precisely determine the number of patients, the demand for services and the related costs, which will allow for better financing planning.

Anna Kępczyńska, president of the Association of Patients with ASMD and their families, added that the aim of the Rare Disease Registry is to collect all data on patients in one place , which is important due to the number of patients in the population and low awareness of the disease.

This problem is to be solved by the Rare Disease Patient Card integrated with the registry. It will be a document that is constantly updated, thanks to which the doctor to whom the card holder reports will know the entire history of the disease, the treatment used and the response to it. With this knowledge , it will be easier to treat the patient or refer him to a specialist center.

It is important to have a database with all the information because doctors often do not know what is related to a given disease and where the patient's records are located

- said Anna Kępczyńska.

The expert emphasized that ASMD (acid sphingomyelinase deficiency), an ultra-rare and severe genetic disease, affects approximately 30 people in Poland, both adults and children.

ASMD has recently been given a new name, previously it was known under a different name. Some patients may not even know they have it , which is why they are not treated. They go through a famous diagnostic odyssey - it can take years to get to a center where a doctor can correctly diagnose ASMD.

- Kępczyńska explained.

During this time, she added, the disease continues to progress , and patients are treated symptomatically for other conditions before they finally hear the correct diagnosis .

Meanwhile, early diagnosis would provide them with a relatively normal life, as a cure for ASMD is available and patients have been included in the drug programme since last year.

ASMD (Acid Sphingomyelinase Deficiency) is one of the inborn errors of metabolism. It consists of a deficiency or improper functioning of the lysosomal enzyme that breaks down the lipid compound (sphingomyelin).

This leads to uncontrolled accumulation of lipids in various cells and tissues, and as a result, to damage to many organs, including the spleen and liver.

The Rare Disease Plan for 2024-2025, adopted by the government in August last year, assumes, among other things, the establishment of further expert centres and improved access to modern medical equipment and medicines.

The plan assumes that a Rare Disease Patient Card will be created. A Rare Disease System will be launched , where data will be collected to feed the Polish Rare Disease Registry. The cost of implementation was estimated at nearly PLN 100 million.