Ehlers-Danlos syndrome – Tatiana Okupnik suffers from this rare and complicated disease

“I did not know that I had a broken pubic bone, femur, lumbar vertebrae” – said Tatiana Okupnik in an interview with Dorota Wellman. “It hurt like hell” but the tests showed nothing. The answer came from resonance with contrast, and then a future diagnosis. “I have the Ehlers-Danlos Syndrome (EDS),” says the artist. The diagnosis in her case took 42 years. What is EDS, what are the symptoms, what symptoms did Tatiana Okupnik develop, can the disease be cured?

  1. Tatiana Okupnik in an interview with Dorota Wellman admitted that she suffers from Ehlers-Danlos syndrome (EDS)
  2. Ehlers-Danlos Syndrome (EDS) is a little-known genetic disease that actually covers the entire body, hiding many other “diseases”
  3. The cause of EDS is the abnormal structure of the basic components of connective tissue – one of the most important tissues in our body
  4. There is no causal treatment for EDS, but numerous accompanying symptoms can be treated symptomatically
  5. More current information can be found on the Onet homepage.

Tatiana Okupnik: I have Ehlers-Danlos Syndrome (EDS). The diagnosis took 42 years

“Simulant”, “hypochondriac” – Tatiana Okupnik heard such terms many times while looking for the causes of her ailments. Many times she had also heard words like: but you are an unusual case, one could learn from you. Today she knows she has Ehlers-Danlos syndrome, a little-known and complicated genetic disease. The diagnosis in her case took 42 years.

The first signals were noticeable already in the artist’s childhood, but they did not arouse anxiety. – I can put my leg over my head without exercise. It wasn’t that strange in childhood. I went to a ballet school and I had no problem with splits, for example. However, I got tired quite quickly – recalled Tatiana Okupnik, talking to Dorota Wellman. – I remember when I was 10, I was walking home shuffling, I was in pain, but I just didn’t have the strength. It was unusual. However, she explained the tendency to injuries and injuries: I simply have weaker bones.

However, there was a fracture of the bones. – I did not know that I had a broken pubic bone, femur, lumbar vertebrae – I felt it, but nothing came of the examination – says Okupnik. They were surface cracks, but “it hurt like hell”. The answer finally came from resonance using contrast. – I was relieved that someone finally saw it, that it is not just in my head or that I am just making it up – he admits.

After the pregnancies at Tatiana Okupnik (she is Matilda and Tymek’s mother), EDS symptoms intensified. – With this disease it is so that after pregnancies that bring, among others, hormonal changes, the disease may activate, regress may occur, or nothing may happen. Unfortunately, my symptoms worsened – I was very tired (chronic fatigue syndrome may appear in EDS), my bones started to crack. There was still something dislocated, some operations – the artist recalls.

Ehlers-Danlos Syndrome (EDS) – a little known and complicated disease. Causes and symptoms

Ehlers-Danlos syndrome is not only excessive joint mobility, muscle pain and susceptibility to injuries. Although EDS mainly affects the skin and joints, it really covers the entire body, hiding many other ‘cystic diseases’. Their common denominator are abnormalities in the structure of the basic components of connective tissue and metabolic disorders within it (they are caused by a mutation or mutations in the gene or genes responsible for the production and construction of collagen).

Let us remind you that connective tissue is one of the basic tissues in our body. Its task is to connect other tissues with each other, provide support to organs, and protect sensitive areas. Connective tissue includes adipose tissue, bone tissue, cartilage tissue, blood. Thus, it is the main component of bones, articular cartilage, tendons, ligaments, it is also present, for example, in the eye, intestinal walls, lungs, and cardiovascular system. Connective tissue is everywhere – it’s the nervous system, joints, bones, muscles, veins – everything. This results in If you miss a doctor who knows something about EDS, it’s very difficult to diagnose it – admits Tatiana Okupnik.

The main symptoms of EDS include (following the Association for People with Ehlers-Danlos Syndrome):

  1. joint symptoms – min. looseness, instability, or laxity of the joints leading to dislocation and / or subluxation; the range of joint movement is clearly greater than normal (without the need for stretching exercises), joint degeneration and complications after numerous injuries also appear early
  2. skin symptoms: the skin is delicate, silky, and in some types also stretchy; after injuries, healing takes longer and keloids are often formed; there is also a tendency to bruise easily even with minor injuries.

In addition, the course of EDS may include, among others:

  1. mitral (sometimes other) heart valve regurgitation;
  2. the tenderness and fragility of organs (e.g. intestines, bladder, blood vessels);
  3. large blood vessels and organs may rupture
  4. vision problems (e.g. astigmatism, difficulty in choosing the right glasses, due to the variability of the vision defect)
  5. varus or valgus of the feet and / or knees (often from birth)
  6. scoliosis and / or kyphoscoliosis

Of course, not all EDS symptoms are necessarily present in all patients at the same time. Their severity may also be different. As the Association for People with Ehlers-Danlos Syndrome points out, “the course of the disease can also be very different, not only between people with the same type of EDS, but also between related patients”. Some people will have very little noticeable symptoms throughout their lives, others will have to deal with different symptoms of the disease every day. So far, it has not been possible to determine what it depends on.

Ehlers-Danlos syndrome is incurable but symptoms can be treated

It is estimated that one in 2,5 thousand suffers from Ehlers-Danlos syndrome. – 10 people. As the Association for People with Ehlers-Danlos Syndrome emphasizes, this discrepancy results from the lack of awareness of the disease among doctors and its rare diagnosis. This is confirmed by Tatiana Okupnik: – There are very few doctors who know how wide the spectrum of ailments can be and how to deal with them.

As with most genetic diseases, EDS is also an incurable disease, but symptoms can be effectively treated and prophylaxis applied, thereby improving the patients’ quality of life.

As a genetic disease, EDS unfortunately spreads from parent to child. – There are 50 percent. chances of passing the disease on to children – that’s a lot – says Tatiana Okupnik. I also don’t want to be afraid in advance. Time will show, although I do not hide, that this is the weakest point of this disease – admitted the artist. Let us add that sometimes there is also a de novo mutation. As the association explains, “this means that the error in the gene only occurs in the child, while the parents are healthy and do not carry the defective gene”.

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