Good news for patients. Deputy Minister Demkow: Rare Diseases Plan is aimed at

Katarzyna Pinkosz, Wprost: Madam Minister, Rare Disease Plan for 2024-25: experts and, above all, patients are waiting for its adoption. When will it enter into force?

Deputy Minister of Health, Prof. Urszula Demkow: I bring good news. Today I will be signing the referral of the plan to the meeting of the Standing Committee of the Council of Ministers. All the remarks, comments of people who consulted the Plan, both people from outside and from ministries, have already been added, and doubts have been clarified.

I hope that within two weeks we will be able to legalize this plan (it will be adopted by the government).

Patients and their families often talk about the diagnostic odyssey: they wait 2 years, 5 years, 10 years, or even longer for the diagnosis itself. Is there a chance that the implementation of the Plan will end the diagnostic odyssey?

I definitely think it will be possible; for several reasons. First, the plan assumes the creation of new centers where diagnostics and treatment of rare diseases will take place. These centers will have appropriate staff resources, as well as laboratories and access to diagnostics. It is very important that the patient has the chance to get to the center at an early stage of their disease. Thanks to this, diagnostics will take less time.

The second thing that will be introduced is an additional valuation of diagnostic procedures. They will be “added” to the valuation of the benefit. Thanks to this, more expensive diagnostic procedures will not be such a burden on healthcare facilities and it will be easier for doctors to order more expensive tests as well. Patients will not have to, for example, perform genetic tests on their children on their own.

Will you create more centers for rare diseases?

We would like to, although it must be admitted that the stage of creating new centers requires additional legislation – it is necessary to pass a law. Therefore, additional legislative work awaits us.

I will start it as soon as the Rare Disease Plan is signed. We will try to create new expert centers, because there are definitely too few of the existing ones.

We will create criteria for including facilities in expert centres: these criteria will be based on having appropriate staff resources, appropriate specialists – not only doctors, but also representatives of other medical professions, e.g. physiotherapists, diagnosticians, pharmacists, who together will create a team caring for patients with rare diseases.

You emphasized during the debate on rare diseases that all these activities are really for patients and their families. Will these changes translate into their lives?

The primum movens of my work is to help patients with rare diseases. Patients and their families struggle with huge problems in their daily lives. Many families have to change their functioning.

Often parents – especially mothers – have to give up work to care for a sick child on a daily basis. The worst thing, however, is the uncertainty about the diagnosis, the uncertainty about what ails the child.

For parents, it is very valuable to make a diagnosis, name the disease the child suffers from, and provide information on whether there is a risk that the next child may also be burdened with a genetic disease.

Coming soon: the full report from the Wprost editorial debate “The Plan for Rare Diseases and the unmet medical and social needs of patients”