I asked: should I be happy or cry? “Rather rejoice in this misfortune”

Przemysław Brumer is one of approx. 50 people in Poland diagnosed with a rare genetic disease – Pompe disease. «When I first heard about Pompe’s disease, I knew nothing about it. Then I asked prof. Limona, whether I should be happy or cry. He replied: I should rather rejoice in this misfortune ”. What is life like with a rare disease, what obstacles does Pompe disease put in front of a person, how is it treated? He told Medonet.

1. About 50 people suffer from Pompe disease in Poland, including Przemysław Burmer from Gdynia and his sister Karolina
2. Pompe disease is a neuromuscular disease of genetic origin, caused by a deficiency of the enzyme responsible for the breakdown of glycogen. It is the only genetic muscle wasting disease that has a cure
3. Przemysław Burmer: To all those who are still looking for the causes of their illness, I would like to say: remember when they push you out through the door, enter through the window. You have to fight for yours. We must not give up our efforts
4. On February 28 we are leaving the World Rare Disease Day
5. You can find more similar stories on the Onet homepage

Monika Mikołajska listened to it

We have Pompe disease – this diagnosis took 15 years

For as long as I can remember, my sister and I (four years younger than me) were weaker and slower than our peers. At PE and wherever it was about physical fitness, we deviated from the norm. It was explained that we are both premature babies. We’ve stuck to that for years.

In my youth, military service was compulsory. I did not want to go to the army, so I started visiting the doctors, looking for a reason that would excuse me from it. And I found it. The neurologist I came across found muscular dystrophy (muscular atrophy). I did not go to the army, and this diagnosis stayed with me for years. Later I did not pursue the topic anymore, I ended up going to the doctors. I was living a normal life then – I was running, albeit at a slower pace, running a car factory. Life was going on normally, and only the back of my head was aware of the disease.

In 2000, when my first daughter, Zuzia, was to be born, I decided to explore my illness. Muscular dystrophy is inherited, so I wanted to know as much as possible about it, whether it would be necessary to treat the child, if there was anything to fear at all … I came to a genetic counseling center, but it was found out that I was in too good condition to do a genetic test. If I had come in a wheelchair, it would have happened. Those were different times, the research was sent abroad, so it was done to the most needy. Nevertheless, I felt bitter. The more that the disease began to make itself felt more and more.

1. What are genetic tests and how do they work? [WE EXPLAIN]

There was no question of any squat, there were problems with standing up, straightening up, and climbing stairs. I have broken my spine four times in a few years (compression fracture) and a subtrochanteric fracture of the femur. All these situations and the accompanying immobilization increased the muscle weakness.

Meanwhile, a second daughter was to be born. We decided to go to the genetic clinic again, this time to prof. Limona in Gdańsk. When he saw our papers, he said: The fact that you are bringing them to me already proves that something is wrong. If the diagnoses you were given were correct, you wouldn’t be able to come to me on your own feet after so long.. The professor began to pursue the topic, and finally advised my sister and I to send blood for testing (test of a dry drop of blood). He suspected a certain disease. We finally got the diagnosis. We have Pompe’s disease. It was 2009 and 15 years passed before we found out what we really had.

Pompe disease is a limitation that a healthy person will not even think about

Living with Pompe’s disease is not easy. This rare disease weakens all the muscles in the body – the respiratory muscles, the abdominal muscles, the spine, the extensors of the arms and legs, the heart, and the intestines. It is associated with many limitations, and those that a healthy person will not even think about.

When I bend down, I can’t straighten up anymore, I just don’t have the strength for it. There is also a problem at night, when you turn over to the other side. When I fall over, and with weak muscles it is not uncommon, I implement my special system of movements thanks to which I am able to stand on my feet. A minimal unevenness is enough and we already stumble, fall limply – we are unable to tense our muscles to prevent it.

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My great love – running – has disappeared from my life. I am no longer able to do this. However, I must say that I have wonderful dreams of running – these are the most beautiful dreams I have ever had. When I wake up after them, I’m just happy.

Problems with breathing arise due to weakened respiratory muscles. This problem started with me even before I found out about Pompe’s disease. I had severe headaches, especially in the morning, I was very drowsy – I literally fell asleep while talking to someone. All this indicated a significant and worsening hypoxia. So I went to the hospital for research. In the evening I went to bed, but woke up in the ICU. It turned out that I had been lying there for two weeks, kept in a pharmacological coma. Before the doctors woke me up, they advised my wife to find a hospice for me, because there would be little more of me, and she was still young and had a life ahead of her.

After waking up, I found out that I had stopped breathing and the nurse found me almost at the last minute. Nevertheless, after a month and a half in the ICU, contrary to the doctors’ assumptions, I left the hospital on my own.

When I thought I had muscular dystrophy, I often wondered how I would live with a wheelchair, what would I do, what would I live on. This event completely changed my priorities. Because the fact that a nurse was passing by at that time was like a miracle. It makes me alive. Earlier, I defended myself with all my strength against being assisted by machines. Today, while sleeping, I am always accompanied by a mask and a respirator. At the beginning it was quite a device, the machine glowed, squealed and buzzed. Now it looks like a small radio.

Pompe disease and the pandemic: I was surprised by the body’s response to the coronavirus

In a pandemic, living with Pompe disease is even more of a challenge. My ailment and mucopolysaccharidosis (MPS) are two rare diseases that carry a higher risk of COVID-19. In general, we have a hard time with all respiratory infections. The danger is even greater as we have to go to the hospital every two weeks to undergo treatment (of course, we have guidelines and procedures developed by the Ministry of Health).

Przemysław Brumer: In fact, diseases are rare, they are not at all rare. There are about 3 million such patients in Poland, around 350 million worldwide. people.

The more I was surprised by the body’s reaction to the coronavirus. I probably caught him at home, because my daughter and wife were both sick. It was December. For security reasons, I moved out. After three days I lost the taste, the sense of smell – I could eat raw onion almost like an apple, and it tasted rather like a raw potato. Headaches and runny nose appeared. My breathing was very heavy – as if I had particles of glass in my lungs. I have never experienced anything like this before. Fortunately, I had a respirator and an oxygen concentrator in my apartment and somehow survived it all. However, it has already come to the point that I began to hand over to my wife a list of closed and unfinished business, as if I were revealing my last will. It was really very difficult, although fortunately it did not last long.

What’s weird – the tests for SARS-CoV-2 (and due to hospital visits, I do them every two weeks) turn out to be negative. Hence, I am planning an antibody test in the near future. For sure.

1. You can be infected with the coronavirus and test negative – how is that possible? [WE EXPLAIN]

Due to the high risk of infection, we, patients with Pompe disease, requested that we be included in the group of previously vaccinated people. Fortunately, the ministry agreed. Vaccinations are scheduled to start in mid-March.

Pompe Disease – The only muscle wasting disease for which there is a drug

When I first heard about Pompe’s disease, I knew nothing about it. Then I asked prof. Limona, whether I should be happy or cry. – In this misfortune, rather, to be happy. It is the only genetic muscle wasting disease for which there is a drug – advised and referred us to “the man of impossible matters” – prof. dr. hab. Jarosław Sławek, a neurologist. This is how the battle to include us in the drug program began.

The only effective way to delay disease progression is to administer alpha-glucosidase. This is done with the use of a drip in four strictly defined speed cycles, depending on the weight of the patient. Therapy takes about four hours and is very expensive, beyond the capabilities of an ordinary mortal. A single administration of the drug costs tens of thousands of zlotys – the prices vary, because the amount of the drug depends on the weight of the patient. For me it is about 80 thousand. The enzyme has to be fed at least every two weeks, so the price is doubling. The costs are also influenced, among others, by the source from which the enzyme is obtained, which is the milk of transgenic hamsters.

In 2007, the state declared the treatment “economically ineffective” due to its high cost and withdrew from reimbursement. Fortunately, the manufacturer has created a charity program by making the drug available to patients for free. This situation lasted for two years. In the letters that we sent to the ministry on behalf of all the sick “Pompki”, because this is what we say about ourselves, we pointed out that the withdrawal of the refund was discrimination on the grounds of an illness, on which we had no influence whatsoever. Therapy was resumed, and my sister and I, and the rest of the patients, were enrolled in the program.

We had to deal with a similar situation recently – on February 28, which is paradoxically the Rare Diseases Day was supposed to be the last day of reimbursement of our drug. Fortunately, the manufacturer and the Ministry of Health have come to an agreement on the price. We can breathe for three years.

It is worth realizing that if the patient does not receive the enzyme, his muscle cells will be destroyed by the glycogen accumulating in the cells, and the process of muscle wasting will be faster. The respiratory muscles will be affected in the first place – you will simply choke. Another thing is that when you start administering this enzyme, your body stops producing it altogether (although it doesn’t make enough of it anyway). Discontinuation of therapy is simply a disaster for the patient.

To all those who are still looking for the causes of their illness, I would like to say: remember, when they push you out through the door, enter through the window. You have to fight for yours. We must not give up our efforts. You also need to seek support from people. Fortunately, now the awareness of rare diseases among doctors and society is greater. However, it still needs to be talked about, explained, shown and reminded. It is worth remembering that there are foundations and patient associations that offer help (one of them is our Rare Diseases Uniqius Foundation).

We asked Mr. Bartosz Bartoszewicz, Vice Mayor of Gdynia, for help in organizing the campaign promoting the World Rare Diseases Day, which will take place on February 28. On this day, the building of the Gdynia City Hall will be illuminated with the colors of the international day of rare diseases. We would like to thank everyone who was willing to help and support our initiative. It aims to raise awareness of rare diseases and their impact on patients’ lives.

Thanks to President Bartosz Bartoszewicz, to the Gdynia Health Center and to Beata Gronowska, to the nurse of the Polish Red Cross in Gdynia, Beata Góralska, a councilor in the Grabówek District and for Mrs. Dorota Płotka, a councilor of the City of Gdynia.

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1. «This drug is a miracle for me. I dreamed about him all these years »
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3. What might muscle pain indicate?

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