«Imagine the breath you feel as if the glass dust is tearing your lungs out from the inside. The deeper you breathe in, the greater the pain. When exhaling, there is a feeling of boiling water coming from the lungs through the bronchi, throat, up to the nostrils. And this is just the beginning »writes Przemysław Burmer in a letter to MedTvoiLokona, one of approx. 50 people in Poland with a rare genetic disease – Pompe disease. What is life like for patients in the coronavirus pandemic? “For us, COVID-19 is like a nail driven into a coffin at a fraction of a millimeter”.

Photo Przemysław Burmer with his sister Karolina, who was also diagnosed with Pompe’s disease

  1. On April 15, World Pompe Day is celebrated
  2. Pompe disease is a neuromuscular disease with a genetic background, caused by a deficiency of the enzyme responsible for the breakdown of glycogen
  3. About 50 people suffer from Pompe disease in Poland, including the author of this letter, Przemysław Burmer
  4. Przemysław Burmer: For us, every day is a struggle for breath. In practice, our life looks as if we are constantly feeling the effects of COVID-19 infection
  5. You can find more such stories on the TvoiLokony home page

It is possible that you have not heard of this disease at all. No wonder – the diagnosis of this ultra-rare disease is extremely difficult. Currently, about 50 people are treated for Pompe disease in Poland – it took a long time to identify the right disease among these patients. As with any disease, time is crucial, the sooner the disease is identified, the greater the chance of staying in better health. My diagnosis lasted … 15 years. I wish other patients had better luck. It is estimated that there are about 400 people in Poland who have not yet been diagnosed with Pompe’s disease. Help me change that.

  1. You will learn the story of Przemysław Burmer from the article: I asked: should I be happy or cry? “Rather rejoice in this misfortune”

Living with Pompe’s disease in the COVID-19 pandemic – fighting for every breath

Pompe disease (glycogenosis type II, Pompe disease) is a difficult opponent because the process of its progress and the age of its onset vary from person to person. The first symptoms may appear at almost any age. The earlier the disease becomes known, the faster it progresses and the more intense its course. Regardless of age, Pompe’s disease causes skeletal muscle weakness, and consequently makes it difficult to move independently, but also – which is more fraught with consequences – to independent breathing. The weakening of the respiratory muscles is the most severe symptom, because it is respiratory failure that is the leading cause of death in Pompe disease.

For us, every day is literally a fight for breath. In practice, this means that our life looks as if we are constantly feeling the effects of infection with “covid”. We grapple with it every day and every night. Every smallest respiratory tract infection is for us what COVID-19 is for people who were healthy until then. In a situation where we are actually infected with the SARS-COV-2 virus, it is even worse. Imagine the breath you feel each time as if the glass dust from the inside is tearing your lungs apart. The deeper you breathe in, the greater the pain. On exhalation there is a sensation / sensation of boiling water coming from the lungs through the bronchi, trachea, larynx, throat, up to the nostrils. And this is just the beginning.

It may be assumed that this is only a moment of suffering, but it does so with every breath. We are constantly accompanied by pain and the feeling of lack of air. After COVID-19 infection, we don’t have a great chance of returning to the pre-infection state. It is worth mentioning that pulmonary rehabilitation of patients with Pompe disease is one of the most tedious and time-consuming forms of improving the patient’s quality of life. For us, COVID-19 is like a nail being hammered into a coffin at a fraction of a millimeter. There are few of us, so nobody talks about it.

Pompe disease – what is it really?

Pompe disease is a multi-system, genetic – and therefore hereditary – disease caused by a mutation in the “GAA” gene that encodes information about the production and function of the GAA protein (acid alpha-glucosidase). What does this mean in practice? Glycogen, i.e. complex sugar (stored in the liver) is an initial form of fuel for muscles – in the course of biochemical processes it is broken down into easily digestible simple sugar, i.e. glucose. Deficiency or impairment of GAA protein function hinders the conversion of glycogen into glucose.

Skeletal muscles, smooth muscles and the heart muscle begin to accumulate complex sugar – glycogen. Other tissues also store it, muscles are no exception. Above all, however, these muscles are damaged / destroyed due to glycogen deposition. The damage translates into disturbances in the structure and function of the muscles – hence the problems with locomotion and breathing.

Pompe disease and the effects of COVID-19. “I haven’t seen much improvement for months”

During all the years of my life with Pompe disease, I was able to regain satisfactory respiratory fitness. This was true even when I experienced the state of clinical death caused by the so-called SCA (sudden cardiac arrest). After having had COVID-19, I have not seen any improvement for months. I constantly feel tired of breathing, I have to use my respirator more often (I affectionately call it “Rex”). We all know that sleep is important for the regeneration of the body – in my case, there is no way I would wake up refreshed and fresh.

After “covid”, my quality of life decreased drastically. I am unable to wear socks and shoes while seated, unless I use a respirator. I cannot eat or drink while sitting down – the pressure on my diaphragm takes my breath away. I heard sometimes, somewhere in the company of taunts like “what are you eating so greedily?” The truth is, I can consume food and liquids while standing – then the discomfort is reduced. After the Christmas dinner (which I also spent standing), I had “muscle soreness” for four days. I am not saying this to put myself in the position of a victim, I am not looking for sympathy – I just want to make you aware of what life is like for a person suffering from Pompe disease.

Pompe disease – how does it manifest depending on age?

In the case of the classic childhood form, the disease manifests itself in the first three months of life. A characteristic feature is the dysfunction of the heart due to the hypertrophy of this organ. Additionally, infants with Pompe disease suffer from general skeletal muscle weakness. As all systems are in their early stages of development, patients in this age group have a life expectancy of approximately two years (if untreated).

Pompe disease, which manifests itself in childhood, adolescence or adulthood, manifests itself mainly by weakening of the skeletal muscles. Due to the more developed organism, there are rarely any cardiological problems (cardiac hypertrophy). The main symptoms that are problematic for this group of patients are difficulties in walking and decreased respiratory function (to a varying degree).

The ways of clinical classification of Pompe disease vary depending on the authors of the scientific publications. Some people categorize the disease into “infantile”, “childhood” and “adult” Pompe disease, while other sources categorize the disease by early and late symptoms.

Healthcare restrictions – a source of hatred and the risk of complications

The guidelines of the Minister of Health make it clear that we, people with Pompe disease, have the right not to use helmets and protective masks, which further aggravate breathing problems. Unfortunately, for this reason we are under attack. Every two weeks I have to undergo coronavirus smear tests – every time I listen to a steak of insults, insults and threats from other patients.

The regulations are dead in our case – the regulations of the Ministry of Health are to provide us with tests in isolated conditions, in practice – we stand in lines with other people, we have to use masks or helmets. Each compulsory research trip may be our last.

Pompe disease – how can it be treated?

⦁ Treatment

The process of treating people suffering from Pompe disease is a joint effort of specialists in many fields, including pediatricians, neurologists, orthopedists, nutritionists, physiotherapists, cardiologists, internists. The degree of involvement of individual members of the treatment team depends on the individual needs of the patient. The treatment plan is based on these needs. In the case of genetic therapy, counseling is crucial, both for patients and their families.

⦁ Enzyme therapy

This form of therapy involves the administration of a replacement enzyme in the form of recombinant human acid alpha-glucosidase. The preparation is administered intravenously. Recombinant GAA does not fully cure Pompe disease, leaves residual symptoms, but many documented clinical cases show that it significantly prolongs the life of patients with “classic” / “late symptom” Pompe disease and improves their quality of life. The main advantage is the stabilization of disease progression.

⦁ Supportive therapies

Other forms of therapy, including physiotherapy, occupational therapy, invasive or non-invasive respiratory support (mechanical ventilation), the help of a speech therapist or orthodontist, are aimed at improving the quality of life, depending on the current individual needs of patients.

As Pompe disease mainly weakens the muscles, replacement therapies focus on strengthening muscle strength, supporting breathing, learning to chew and swallow efficiently, helping to increase physical fitness, or providing orthopedic support to people with posture and mobility impairments.

In more severe cases, surgery or tube feeding may be necessary.

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

Living with Pompe’s disease is not easy. As I mentioned, the disease weakens all the muscles in our body – the respiratory muscles, the muscles of the abdomen, spine, arms, legs, heart and intestines. It is associated with many limitations, and those that a healthy person will not even think about. Healthy people do the activities without a problem. I, when I bend down, am not able to straighten up anymore. My muscles just don’t have the strength to do it.

There is also a problem at night when turning over to the other side. When I am lying on my side (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. It is a long and time-consuming process with many challenges ahead of me. A minimal unevenness is enough and I stumble and fall limply. I am unable to tense my muscles to prevent this from happening.

This is what life with Pompe’s disease looks like – every day I take the challenge of living it, out of breath. We need your help – there are patients in the country who are not diagnosed. I provide the most important information from the knowledge base of our Foundation – Uniqius. Maybe thanks to this knowledge someone will get help and will have a chance to stay in better health.

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