Ehlers-Danlos syndrome. What is life like with EDS? Eve’s story

«I heard from the doctor that I was too young to suffer from anything and to do any tests for me. The worst was yet to come ”. Ewa Kowalów is 28 years old and she does not even count 30 serious operations behind her. Years had passed before she found out she had Ehlers-Danlos syndrome. How was her path to discovering she had EDS and how she lived with this “invisible disease”, she told Medonet.

1. Recently, Tatiana Okupnik admitted that she suffers from Ehlers-Danlos syndrome (EDS)
2. One of the fewer than a thousand people diagnosed with EDS is also Ewa Kowalów, president of the Ehlers-Danlos Polska Association
3. For Ms Ewa, EDS brought mainly neurological problems, including very strong and frequent pains, “brain fog”, problems with eyesight, but also gastrointestinal disorders, food intolerances, hypersensitivity to cold
4. For years she had heard from doctors that her symptoms were caused by stress, that she was trying to get attention, that she was inventing or was hypochondriac
5. It took years to discover the diagnosis, during which she underwent 30 major surgeries – Ms Ewa’s mother traced EDS. How it happened, she told Medonet

Monika Mikołajska listened to it

Before the diagnosis of EDS. “It must hurt, it will pass with time”

It started with headaches. I know from my parents that I was six at the time. I remember these pains myself when I was a teenager. Happened several times a week. Doctors often commented that I was trying to get attention because my head couldn’t hurt that often. Parents said: take the pill, you will pass. It got to the point that I took a dozen of them a week. For years I was also accompanied by dizziness, it felt as if a helicopter was spinning in it.

I also experienced many injuries as a child. All the time I had something dislocated, subluxated, less often – broken. However, I assumed that it was because I am active (we went skiing, sailing with my family, there was tennis, swimming). At the time, my parents didn’t pay much attention to this tendency to resentment – they thought I would grow out of it over time.

My muscles, bones and joints often hurt – it happened several times a week, sometimes the pains lasted several days non-stop. When they were exceptionally strong, we went to the doctors, but then we usually heard that it was related to height, that it must hurt, and that it would go away with time. The pain worsened with each activity, sometimes it was even hard for me to get up. I got tired very quickly.

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Then it turned out that I have a neurogenic bladder (very often, even though the bladder is almost empty, there is a feeling of incomplete bowel movement), which indicated problems with the nervous system. It was very embarrassing and stressful, especially during school trips. In EDS, this problem occurs very often. Or you may have a different symptom – not feeling like your bladder is full.

Hypersensitivity in EDS. “The body can change from hour to hour”

Actually, throughout my childhood, throughout my teenage years and later, I struggled with food intolerances and histamine intolerance (later diagnosed as mast cell activation syndrome). However, they were only diagnosed three years ago. So there were diarrhea, constipation, abdominal pain, nausea, shortness of breath after consuming milk, and there were changes on the skin – red spots, urticaria, conjunctivitis. In such situations, anaphylactic shock may even occur. Now I’m on a strict diet – gluten free, dairy free, fructose free, can’t eat anything frozen or processed, everything has to be fresh. I also take many medications to relieve symptoms, due to the severity of symptoms, I am undergoing biological treatment.

Hypersensitivity reactions also appeared to other, sometimes surprising factors, such as changes in temperature, air humidity, light – in fact, it can happen in response to anything. There is shortness of breath, severe fatigue, the skin becomes dry, the body begins to swell – to strangers it may seem that it is simply more weight, those who see us every day know that it is impossible to gain weight in one day and look as usual the next day. The body can even change from hour to hour.

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Cold intolerance is very common (although it can also apply to high temperatures). I remember the situation from my stay in Canada. It was then a cold winter. At one point, spots appeared on my skin that looked like mycosis and I was treated for this disease without any effect. In the end, one of the doctors decided to check if it was actually fungal changes – it turned out to be an allergic reaction to cold and dry air. In his career, he had encountered only one similar case. Interestingly, when I flew from Canada to Mexico, all the stains disappeared within 10 minutes – because the temperature and humidity changed. The Canadian doctor was right.

This is not a typical allergic reaction, because standard tests do not show anything disturbing. There is a need for highly specialized immunological tests for the activity of mast cells. I don’t think anyone in Poland does them. Only a few laboratories in the world do this.

Search for a diagnosis. “I heard that I needlessly take away the doctor’s time”

As you can see, I had a lot of ailments and they were very different. At first, I didn’t connect them together. I tried to take care of each one separately. Doctors did not help either. I have heard from many that the cause is stress, that I am trying to get attention, that I am making up or having hypochondria. Once I heard that I needlessly waste my doctor’s time. I remember that my head and stomach ached then, I had bladder problems and shortness of breath. For the doctor, these were typical symptoms of stress or hysteria. Especially since it was about a young girl. Unfortunately, there is a large disproportion between how men are treated and women, especially young ones. And this problem appears all over the world. We just hear more from doctors that the symptoms we report are hysteria. As it is not known what is happening, the easiest way to point to the psyche or psychosomatic symptoms.

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An additional difficulty is the unpredictability of the body’s reaction – this makes it very difficult to prove to a doctor that the symptoms actually occurred. We make an appointment to a dermatologist or pulmonologist, the deadline is in two months – but during this time I may not have these symptoms at all, but they may reappear a week after the visit.

The disbelief on the part of doctors, endured over the years, and hearing that the cause of my ailments was “my head”, that I had made it up for myself, eventually led to the development of depression.

The winding road to diagnosis. “Unfortunately, a lot has happened”

The turning point in getting closer to the diagnosis (although I had to wait for years for that) was the accident I suffered when I was about 11 years old. I fell down the stairs and broke my tibia, and my head and neck hurt a lot. A few years later, it turned out that the first cervical vertebra had ruptured, but it was not visible on the X-ray. So it was found that everything was fine.

Six years later, headaches were the norm for me – they lasted almost constantly. I started taking antiepileptic drugs, antidepressants – apart from the fact that they made me dull, there was no improvement. The main diagnoses were hypersensitivity, tension headaches, and again, attempts to attract attention were suggested. Before we got to the root causes of my illness, unfortunately a lot happened.

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I had sinus surgery to relieve my headaches – it didn’t. Two years later, the right ovarian teratoma and the endometriotic foci were removed. The headaches kept getting worse, I had shortness of breath, palpitations, memory difficulties, vision problems – many times when I was lying down I lost my eyesight completely. Subsequent visits to neurologists did not bring results, he was still diagnosed with hypersensitivity, stress, tension headaches and migraines. Added to this were increased gastric problems – However, I heard from the doctor that I was too young (I was 22) to suffer from anything and to have any tests done for me, so I definitely have irritable bowel syndrome. So everything was blamed on stress again.

The worst was yet to come. In 2015, a neurosurgeon, Dr. Artur Zaczyński, examined my previous resonances, which many doctors had already seen, and noticed a non-union fracture of the posterior arch of the first cervical vertebra (C1). This was later confirmed by the CT scan, as was the traumatic lesion of the lower cervical vertebrae. These problems were one of the causes of the terrible headaches I have had. I traveled half of Europe to find a facility where this could be fixed. I found him in Berlin. During the operation, I had an interbody implant inserted – the effects were amazing: the constant headaches were completely gone (those related to pressure or movement remained).

Unbearable pain and finally a diagnosis: Ehlers-Danlos syndrome

Unfortunately, a month later the implant collapsed (it was caused by an incident in the parking lot and sudden braking of the car, as a result of which I hit the front seat). The pain was back. This is also where the complications and series of hospital stays begin.

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Reoperation did not go as well as the first treatment – very strong headaches appeared again, pains in arms, hands, vomiting, persistent food intolerance – I couldn’t eat anything except the yolk. Within a week, I lost 10 kg. My joints ached – I felt as if sand had been poured over them and my bones were brushing against each other. It was an unbearable pain. It wasn’t quite clear what was wrong with me. Only drips brought improvement, so I went to the hospital time and time again. In the end, a council was called in Nowa Sól, which decided that I had dysautonomia, i.e. a dysfunction of the autonomic nervous system. Treatment was established. I was also sent to a neurological hospital, but nothing good came of it – again the main reason was the psyche, despite the different opinion of the psychiatrist and the hospital psychologist.

Fortunately, my parents believed me, so I had a lot of support in them – probably that’s why I survived this terrible time. My mother was always looking for the causes of my problems. When the implant collapsed, someone suggested to her that maybe I had some rare disease that no one could get. Mom started looking for information on the Internet and so she came across the Ehlers-Danlos syndrome. That was exactly it, I met all the possible criteria for hypermobility.

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I found a geneticist who confirmed: hypermobile type EDS (hEDS) based on blood tests. The cause of the hypermobile type is not fully known, but due to the fulfillment of all diagnostic criteria and the diagnosis of another patient from abroad who had similar symptoms, identical genetic change and the clinical diagnosis of hEDS, the doctor also diagnosed me with hEDS.

It was a great relief that I finally had a starting point. It was 2015. I was recommended an annual cardiac check-up, D3 supplementation, physiotherapy and bone mineral density testing (bone densitometry) – thanks to it, I learned that I had osteopenia, and then that I had osteoporosis (it was the likely cause of implant collapse).

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EDS is incurable, only comorbidities are treated. Therefore, after the diagnosis, I went to the American EDS clinic – in Poland, the doctors I visited refused to be treated or suggested a visit to a psychiatrist. In the US, the problems I had with my cervical spine were taken care of. I underwent stabilization – screws were inserted into my skull and the first and second cervical vertebrae. This unfortunately brought more problems (spine instability was much greater than the imaging studies showed), more surgeries and complications following them, including microbudge, cerebrospinal fluid leakage, intracranial hypertension and allergy to blue sutures, through which the wounds did not want to heal. In total, I have about 30 major surgeries behind me, I do not count smaller surgeries. Most reoperations could have been avoided if doctors had known about the specifics of Ehlers-Danlos syndrome.

There is at least one more operation ahead of me – changing part of the VA valve due to intracranial hypertension.

Living with EDS. “I laugh that my job is to be a patient”

Today, thanks to accurate diagnoses and effective treatment, fortunately, I do not experience such severe headaches as I used to – they happen, but they are not permanent, and at the same time much weaker and responding to ordinary painkillers. My eyesight has improved (from -5,25 to -4,5), I can be more active, I sleep better. Since 2018, I have not taken antidepressants, I do not use the services of a psychologist, there are very rarely low moods.

For me, EDS brought mostly neurological problems. It was the result of spine instability, problems with intracranial pressure, as well as the aforementioned dysautonomia, mast cell activation syndrome, gastrointestinal problems, shortness of breath, instability in the arms or the temporomandibular joint. Unfortunately, Ehlers-Danlos syndrome creates a predisposition to the occurrence of other diseases. It is not one disease, it covers the entire body.

For me, EDS also determined most of my life. I laugh that my job is to be a patient. Because of him and the state I was in (including severe pains and “brain fog” – inability to understand the text, forgetting basic words, very strong exhaustion), I had to interrupt my veterinary studies. I wish I could come back to them someday. After all, there is much, much better with me now.

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So far in Poland, EDS has been diagnosed in less than a thousand people. However, estimates indicate that it may affect 7,6 – 15 thousand. people. For those who suspect they may have EDS, I recommend keeping a diary and writing down when and under what circumstances it appears. This will make it easier to link the situation to specific symptoms. The second important thing is to consult doctors who specialize in connective tissue diseases. And most of all – keep trying to find a diagnosis. I also have a request for the families of people who report various unusual health problems: believe them and support them in finding a diagnosis. Symptoms always have a cause.

In 2017, at the initiative of the clinical geneticist Prof. dr hab. n. med. Olga Haus, the Ehlers-Danlos Polska Association was established, which supports and unites patients struggling with this disease. I decided to put them on and run them – I think I have so much experience with EDS and the treatment that I can handle it. Anyone who needs help with diagnosis or advice can contact us.