My story – Veronika
Since I was born, my mom mentioned I have this baby reflux problem. I didn’t tolerate classic milk, even maternal and had to be fed by specially processed milk. Growing up I remember I was constantly sick on antibiotics, having flus, still having problems with reflux, alternating diarrhoea and constipation, bellyache, and this weird aversion towards fruit. I developed asthma from frequent inflammations of the airways, I took penicillin for a long time for haematuria, I had a problem with failure to thrive, and I was still thin and anaemic even in childhood. I have never broken a bone, but I have those weird injuries, that when I am rushed to the hospital with suspicion of a broken bone, then it always ends up that is just subluxation or dislocation. I didn’t pay much attention to it since it didn’t limit me.
Primary school was hard for me. I was having problems with learning which later came up as I have dyslexia and dysgraphia. And I needed to adjust as a differently treated kid by the teacher, which brought up long-term bullying.
I started to have mental issues as these rituals made me feel better because I became anxious. When I ended up in hospital I was diagnosed with OCD and anorexia, which was a consequence of my waning self-esteem by bullying. My classmates forcibly took my things, threw chalks, pens, and a sponge on the blackboard at my head, gave me insulting nicknames, shouted at me, and gossiped among themselves, later it turned into cyberbullying that I was forced to have a profile under a fake name. This period took away my voice and I was not able to speak about the problem even to my parents, only my psychologist found out about it, who helped me graduallytalk to myself by writing a diary. However, a diary does not solve bullying, and no one at school does. I still used to cry during the ten-hour break in the toilet, I didn’t go to lunch. When I lost a lot of weight, one day I got terrible. My parents took me to the emergency room and I ended up hospitalized with anorexia, which slipped into self-harm. From the age of 13 to 18, it was tough for me, I would call it puberty. However, with the advent of high school, my problems became milder. I met my first friends in high school, the bullying didn’t appear anymore. I started toenjoy chemistry, biology, and the German language, which I eventually graduated from. I remember my high school very fondly because thanks to one teacher I finally decided to study at a technical college. She motivated me a lot, so she also gave me the courage to do it. To this day, she is my great support and when I have a problem, she is very willing to help me with my studies, since I study at the school she also graduated from. However, during my difficult puberty, there were already my attempts to find out why I have such strong stomach pains, why it hurts to eat, and why eating is suffering for me.
At the age of 17, I was hospitalized, but no one took me seriously. Doctors put everything down to anorexia, even though I was completely different from when I was in elementary school full of despair. I was very sad about that. I enjoyed high school and I was unable to eat because of the pain.
They did my first endoscopy at the hospital. I had a chronic inflamed stomach and duodenum. However, no one shared it with me at the time until later I read it myself in the dismissal report. Despite this, I also received a nasogastric tube, which had to be removed within a week, as I could not tolerate it. I had to force myself to eat because I was malnourished and the doctors didn’t help me. I finally managed to survive until the end of school on certain foods that did not cause me so much pain. I had to drop a lot based on experience. I had severe diarrhoea from many foods, while others caused me bloating, reflux and even vomiting.
After high school, I had planned to go to college, but my plans changed when I started having serious health problems at the age of 21, which started my long journey to convince doctors to believe me and not say it was all in my head. I visited my first gastroenterologist, to whom I was open. I told him all the symptoms that I observed, he was willing to examine me, which he did. He repeated the endoscopy, later he also did a colonoscopy, did extensive blood tests, and also looked at the stool. Again, I had a finding on the stomach and duodenum, which was not resolved. Blood tests revealed histamine intolerance, anaemia, and a very low level of vitamin C, which I supplemented with infusions.
At that time, I assumed that I had celiac disease since I had very bad reflux and pain from gluten, and that’s why I stopped using it since then. The doctor ordered me to follow a histamine-free diet and further said that he could not help me because I had such problems. My problems did not improve and I kept looking.
I visited an immunoallergist and an endocrinologist, on the advice of my general practitioner, but once again everything was normal. After a while, I even started to believe that it was all in my head and went to see a psychiatrist, who luckily knew that I couldn’t have such problems due to psychological problems. My psychiatrist was very supportive, she believed that my problems were valid and prescribed me nutridrinks until I had the necessary help so that I wouldn’t die of malnutrition, which I was seriously suffering from.
Due to financial expenses, I also had to work a lot, but I worked as a barista, which I really enjoyed and I also enjoyed being able to work. But the work was exhausting me a lot. I worked with people who trivialized my problems. It was not pleasant, so I stopped trusting people over time. I was a loner and had a very small circle of people with whom I communicated. I received a lot of love from my animals. I kept many rodents. They included two guinea pigs, five rats, ten roborov hamsters, one golden hamster, and two hedgehogs. They were animals that I also liked to take care of because they gave me a reason to live. However, later I found out that I am allergic to them and I had to find a replacement home for them. Fortunately, I was able to have cats that gave me love in the same way.
I underwent a tonsillectomy in the winter of 2022, which left me in an even worse condition than I was before. I should have been sick less, but on the contrary, I started to be sick even more often and my throat pain has not gone away since then. I also overcame anaphylaxis. I received antibiotics after surgery, but I had a serious allergic reaction to them.
From then on, emergency room visits were the order of the day. And ENT visits were also added.
After the operation, I had a complication of staphylococcal infection. I was at home for a very long time and was being treated. Only after 3 months at home was I able to work again.
However, another problem arose. Since I was a barista, working with my hands was very important to me, but a ganglion cyst appeared on my front wrist and did not disappear even after the third aspiration. To this day, even if I don’t exert my hand, I have a cyst on my hand, which is a sign of hEDS. Through it all, I was forced to work because I had no other choice and I still didn’t know what was wrong with me.
In the summer of 2023, after very demanding dental procedures, I began to suffer from trigeminal neuralgia and TMJ pain. Together with the sore throat, which was eventually found to be Eagle Syndrome, it hurt so much that I became addicted to pain medication.
I worked until September 2023, until that month I tried a new gastroenterologist, who diagnosed me after 5 minutes of conversation. From my words, she immediately knew what was wrong with me. She told me that I was not her first patient with this problem. She was the very first doctor who listened to me and did not claim that the problem was in my head. She met my psychiatrist and thanks to that she knew that I was completely fine in this area. She sent me for a CT angiography, which indeed revealed the suspected Wilkie Syndrome. When I came to the doctor with the results, she told me that an operation would be necessary and immediately scheduled an appointment with the doctor who would operate on me.
She also told me that I have to stop working. I had a critically large spleen and an enlarged liver.
I listened to her and I haven’t worked since that day. The doctor who was supposed to operate was a vascular surgeon. I was very stressed from the visit, but it turned out that the doctor was very kind and even found additional Nutcracker Syndrome and Pelvic congestion on the Doppler ultrasound. He didn’t force me into surgery right away and said that I should let him know when I was ready. That was at the time when I stopped being able to eat orally and within a month I ended up in the hospital, where I was connected to parenteral nutrition.
The vascular surgeon also noticed my hypermobility, in connection with the intraabdominal compressive syndromes found, he suspected it of Ehlers-Danlos syndrome and gave me a request for genetic testing.
After the hospital, I took tests in Vienna that revealed MCAS. This information gave me many answers again, why what was happening to my body was happening. I had frequent hives, my body broke out into red dots that burned like fire on the skin. I got medication for it and the symptoms are less frequent, I also started avoiding specific perfumes, deodorants, and washing gels that triggered my symptoms.
With total parenteral nutrition at home, my pain management also improved. I was more referred to nutrition through the heart, and that gave me a lot of rest from eating, which was painful to the point of being impossible for me. My blood count also improved, diarrhoea was less frequent and I also gained weight and became stronger.
In January 2024, I underwent a cardiology examination for POTS. I had a positive Hut test, the doctor was laughing, as we were supposed to be discussing inorganic chemistry before I lost consciousness.
It was during the period when I had exams at the university and I explained to the doctor the difficult subject that I was struggling with. The examination was not at all scary for me, thanks to the very pleasant attitude of the nurse and the doctor, I got through it. Once again, I left the ambulances with answers.
Since 2021, I also had low blood pressure and tachycardia, I did not lose consciousness, but it was very uncomfortable for me, mainly when I was working. When my head was very dizzy, I sat down and drank magnesium, which I later found out was the wrong thing to do. Fortunately, the doctor gave me medication to increase my blood pressure, which also alleviated my presyncope conditions.
In the same month, I also had genetic tests. The doctor went through the entire family history with me, as well as my medical documentation. She was very interested in my case and also supported my opinion that I must have a repeated colonoscopy with a bowel biopsy, as there is a hereditary two-generation Crohn’s Disease in the family. They took my blood and within six months I had the results. They found that I have hereditary fructose intolerance and congenital glycosylation disorder type 1A, which could be the cause of my long-term daily diarrhoea. However, I was sad because of the 18 known mutations of collagenopathies, none was found in my blood.
However, the doctor was so nice that when I showed her the article about the latest single gene KLK15 on hEDS, she was willing to investigate my case again and I am waiting for further results in half a year.
In March 2024, parenteral nutrition was taken from me, the tube broke in my sleep. I did not receive replacement nutrition, within a month I lost a lot of weight again and in April I underwent a stomach scintigraphy, which confirmed Gastroparesis. I was given medication for stomach motility and a recommended diet for gastroparesis, which I already followed based on my experience. The medicine didn’t work for me and made my diarrhoea worse.
I am currently waiting for an alternative that would speed up the evacuation of my stomach.
In June 2024, I received a nasojejunal tube, with which I received nutritional bags for the whole day when I could again take a break from oral intake, which is very difficult for me due to pain and reflux.
I am very grateful for my team of doctors who are currently taking care of me. And I am also very grateful to myself that I never gave up. This is just a very brief story of my 4-year journey to diagnosis, but more importantly what I want to tell you. It is not easy to prove to doctors that they believe us, but it is even more difficult to continue to believe in ourselves when we are told that it is all in our heads.
But I want to advise you on the things that helped me on this journey and they were: my hobbies, which are reading books, writing, painting, and playing the guitar – in my worst period, the most beautiful thing for me during the day was that I sang while strumming chords, also it helped me a lot to visualize myself when I’m better at listening to music – a fantasy that we develop as children. And it helped me the most to be in contact with people who understood me and they are other zebras like me 🙂 You have to believe and keep a positive attitude, even if it would be easier to give up because the right path is the hard one!
And for that, you only need to be resourceful, not strong. Because life is beautiful and full of colours.