About 2022 SMA patients have been able to benefit from the drug program. We asked prof. dr hab. n. med. Anna Kostera-Pruszczyk, Head of the Department and Clinic of Neurology of the Medical University of Warsaw.

We have recently had a drug program in Poland for patients with SMA. Do all patients use it or are there others who do not have access to it?

The drug program for patients with spinal muscular atrophy has been in operation since January 2022, but due to the necessary procedures, it was actually launched in April of that year. According to the provisions of the program, our doctors have the right to treat all patients with SMA:there are no restrictions either due to the type of disease or the age of the patienta. This is an excellent situation, because without SMA treatment, this disease would progress, while we already know from clinical trials and our first experiences that the drug we administer saves patients' lives, improves their motor functions and efficiency.

How many people were covered by the drug program?

We do not know the exact number of SMA patients in Poland. The register, which has been kept for many years in the clinic I am in charge of, shows that we currently have over 800 registered patients, it is estimated that there are about 1000 patients in all. compared to other European countries), we are in 2nd or 3rd place - even though there are countries that had access to the drug 2 years earlier than us. This is proof of the enormousmobilization of neurologists and pediatric neurologistsand the exceptionally efficient course of procedures for including patients in the drug program. It's a huge success.

Well, how did it happen that the drug program was launched so quickly and that this success was achieved in such a short time?

Probably all of us ask this question quietly. I think several elements have worked. First of all, the medical community was aware that spinal muscular atrophy is a very serious, progressive disease, one for which there was no cure until now. And suddenly a powerful weapon to fight SMA appeared - every doctor dreams of such a situation. You had to use it.

Second: we had a well-organized patient foundation that has made a great contribution to spreading knowledge about SMA, andalso in organizing early treatment - before the reimbursed drug appeared in Poland, the SMA Foundation sent many patients abroad, which also gave us our first experience with the new treatment.

I must also emphasize that there was a lot of good will on the part of the Ministry of He alth and the National He alth Fund, thanks to which the procedures were launched quickly and efficiently. Really, everyone did everything they could to get the drug program for SMA patients up and running as soon as possible. It is a great satisfaction for all of us, especially since we can see the results of this treatment.

The effects are supposed to be spectacular….

Yes. If I hear from an adult suffering from SMA (because I only treat adults and older children in my clinic) that he has the courage to make plans for the first time in his life, and at subsequent visits I hear that he is implementing these plans, it is really, after several decades of observing patients whose the condition inevitably worsened, this is an amazing change.

The effects of the treatment are spectacular, although of course you have to understand it well. If we give the drug to a toddler who has no symptoms yet or has few of them, the improvement is excellent - the child who was genetically "doomed" to a very severe course of the disease develops properly andin the playground is impossible differentiation from he althy peers.

In the elderly, with more advanced disease, it will not be possible to reverse the changes caused by SMA, but we can see the inhibition of disease progression, which is already a success, as well as the improvement that increases with subsequent doses of the drug.

What changes in their functioning do patients notice? Is their quality of life improving?

Yes, you can see it with the naked eye. Sometimes it is lifting the cup, sometimes a person who is still walking alone can move 30-50 meters further within a certain period of time. These are achievements that seem like a trifle for a he althy person, but for someone whose disease so far has been very limited, it is a huge improvement in the quality of life.

There is one more aspect that should not be forgotten: almost everyone with SMA requires the care of a loved one. Improving his condition means that now the caregiver can return to work or take care of his own he alth.

What should the coordinated care of a patient with SMA look like, which specialists should be included in the treatment of this disease?

Coordinated care for a patient with SMA means that many specialists are needed. In spinal muscular atrophy, although the disease affects only muscles, , in fact, muscle wasting causes disturbances in many vital functions . The patient requires rehabilitation, highly specialized orthopedic treatment, mayberequire respiratory care, pulmonary care - including the support of a ventilator, may need nutritional, speech therapy, phoniatric, pedagogical care - can be changed endlessly. This makes the patient go door-to-door, which is difficult not only during the pandemic, but especially now.

What we dream about is reducing the number of visits necessary. We want to remove the burden of making appointments with other specialists from the patient's family,we want the patient to be cared for by someone with comprehensive knowledgeabout the patient's needs. For now, at least partially, this role is fulfilled by the drug program, as part of the consultation is included in the visits related to the administration of the drug.

Is there a chance that coordinated care will be introduced soon?

Of course, there is a chance. The SMA community is a group of people who dislike the word "impossible" very much. But we are aware that the human resources of the Polish he alth care system are insufficient. An optimal model of integrated care is not something that can be built in a few months, especially in the current situation.

The closure of the country was necessary and saved us from falling ill, but it certainly made it difficult for patients to access daily outpatient rehabilitation. Until now, the program was implemented despite the pandemic, drugs were administered - that was our priority. We do not know yet what the next months will bring, but we will certainly do everything to keep the condition of patients with SMA improving.

Thank you for the interview.

Our expertprof. dr hab. n. med. Anna Kostera-Pruszczyk, Head of the Department and Clinic of Neurology of the Medical University of Warsaw.

Category:

Genetic diseases