First the legs got out, and then the drug appeared - it's like winning the lottery

Since last year, an effective treatment has been available for patients with mutations in the SOD1 gene. Polish studies from clinical practice have shown that the use of this breakthrough drug has resulted in an improvement in functional status in almost 70 percent of treated patients. It is estimated that about 100 patients in Poland could benefit from the treatment, experts stressed at the press conference "The Situation of Polish Patients with Amyotrophic Lateral Sclerosis (ALS). Opportunities and challenges."

- The role of my hands and mouth was taken over by my mother," read aloud Ewa Bala, mother of Pawel Bala, president of the Dignitas Dolentium Association, who contracted ALS at the age of 19 and has been living with the disease for 23 years. Pawel stresses that now that a registered therapy is available for such a small group of patients, it becomes crucial to ensure that all ALS patients receive prompt genetic diagnosis.

First the legs got out, and then the drug appeared - it's like winning the lottery

Barbara Golubovskaya's legs first refused to obey her, and she began having trouble walking, and in time, climbing stairs. She went through a four-year diagnostic odyssey in search of the cause of her ailment. She heard the correct diagnosis - ALS with a mutation in the SOD1 gene - in the spring of 2024. The diagnosis allowed Ms. Barbara to be included in the then-open Early Access to Therapy program.

- It was like winning the lottery. Since I have been receiving the drug, the disease has not progressed. I travel, I work, I am fascinated by fashion, I sew, I garden. I have two daughters, who are 11 and 15 years old. I was worried that if either of them was sick, they would not find rescue. Now I know there is hope," says Basia.

Mariusz Zywko, who is a retired firefighter, makes no secret of the fact that the disease came as a surprise to him. When he began to have the first symptoms of ALS, however, he associated that his father
and grandfather were similarly ill.

- At first I felt weakness in my left leg. Over time, I couldn't stand on it, even on my toes. Then there was weakness in the right leg. So I started walking on my heels. No diagnosis was made at the hospital in Sandomierz. It happened at a clinic in Warsaw. Since March 2024, I have been treated and the disease has not progressed. My legs are still weakened, but there is improvement. I can train fellow firefighters, play
with my grandchildren and help my wife. Since the drug is there, I'm calmer, because I know it can help my children if they get sick too," says Mr. Mariusz.

What is ALS and what does it manifest itself as?

Amyotrophic lateral sclerosis is a neurodegenerative disease in which 3 to 5 years usually pass from the onset of the first symptoms to respiratory failure, speech and swallowing disorders and full disability. It is most often diagnosed in people between the ages of 40 and 70, and the average age of diagnosis is around 55. However, there are cases of disease in people under the age of 30.

Most patients lose independence within 3-5 years, but there are some who are ill for less than a year -
in these patients respiratory failure occurs very quickly. Patients in whom ALS progresses slowly survive for more than 20 years. In the Polish population, about 800 people develop ALS each year, and all patients are approx. 3000.

- If the central nervous system is damaged, the patient will have weakness in the arm, leg, face. The weakness will run with stiffness, it will be difficult to make quick, precise movements. On the other hand, if the lower motor neuron, that is, the peripheral part of the nervous system,
the one that comes out of the medulla or the extended medulla, is damaged, the patient will have paresis with muscular atrophy, such as in the hands, face and tongue, speech and swallowing disorders," explains Professor Magdalena Kuzma-Kozakiewicz of the Department of Neurology, Warsaw Medical University.

ALS is often difficult to diagnose because it is a heterogeneous, diverse disease. It usually takes 6 months from the first symptoms of the disease to reporting to a doctor, but it takes on average as long as 11 months to make a correct diagnosis. Because of the difficulty in diagnosing ALS, international criteria - the Gold Coast Consensus - have been developed to facilitate proper diagnosis of the disease in order to begin treatment at the earliest possible stage.

- Since we have an effective drug in the mutation in the SOD1 gene, we have to adapt to the European criteria and add a fourth element, which is genetic testing. The sooner we perform it
in all patients, the better the chances of finding those who have this mutation. We can treat it effectively, prolonging survival, slowing the progression of the disease, and even improving function," enumerates Prof. Magdalena Kuzma-Kozakiewicz.

Patients with ALS can get the disease sporadically - these are the most common (about 90 percent) - or familial (10 percent), when there is a family history of similar disease.

Four genes are most commonly mutated in ALS: C9orf72, SOD1 TARDBP and FUS. It is estimated that a mutation in the SOD1 gene occurs in about 100 people in Poland.

Faster access to genetic testing needed

- In patients diagnosed with amyotrophic lateral sclerosis (ALS), priority should be given to genetic testing as soon as possible, primarily for mutations in the SOD1 gene.
It is this mutation that is currently of greatest clinical importance, since causal therapy is already available for patients with SOD1. That's why testing for it should be a diagnostic standard - because it gives a chance to implement treatment that can realistically slow down the course of the disease, says Professor Alina Kulakowska, president of the Polish Neurological Society.

ALS as a systemic and diagnostic challenge

Ewa Waksmundzka of the "Dignitas Dolentium" Association also strongly emphasizes that patients
with mutations in the SOD1 gene need treatment.

ALS patients with other mutations for the time being are left with rehabilitation, classes with a speech therapist and a physiotherapist to keep patients as fit as possible for as long as possible.

- There is a long wait for rehabilitation at the National Health Service, so families incur huge costs for private rehabilitation. They also buy additional equipment that is not reimbursed. The association conducts free rentals of cough assistants, which are badly needed by patients at an advanced stage, but are not reimbursed by the National Health Fund," Ewa Waksmundzka enumerates the problems.

He tells us that patients who are already on ventilator support are placed under the care of a long-term care team, i.e. a doctor, nurse and physiotherapist, but the problem is the time when they don't yet require ventilator support. Then the patient has to manage on their own. ALS patients at a certain stage of the disease require round-the-clock care. Very often at least one person in the family has to give up work or the family has to hire a caregiver.

Source: press mat.