Forum MenuForum NavigationForumMembersActivityLoginRegisterForum breadcrumbs - You are here:Rare is many — together strong through knowledge and connection.“Rare is many — together strong through knowledge and connection.”: "Small Talk" about all sorts of things related to rare diseasesPetra, 40 years old, has an unbel …Post ReplyPost Reply: Petra, 40 years old, has an unbelievable medical history <blockquote><div class="quotetitle">Quote from <a class="profile-link highlight-admin" href="https://rarediseaseslensmagic1974.net/forum/profile/daniel-kraus/">daniel.kraus</a> on March 27, 2026, 7:27 am</div><strong>Petra, 40 years old, has an unbelievable medical history</strong> <em>By daniel.kraus – March 26, 2026</em> Petra is 40 years old and has a daughter. Since the birth of her daughter, Petra has been suffering from unbelievable pain. It started in her left ankle and has gradually moved upward, now reaching into her abdomen. On top of this, she is experiencing severe gastrointestinal problems, which have also led to significant weight loss. Diagnostically, Petra has gone through a marathon of testing. She has had CT scans, multiple MRIs, as well as several gastroscopies and colonoscopies. All without any diagnosis. Multiple blood tests have also been unremarkable. Petra is now completely at a loss, something we Fabry patients understand all too well. Petra herself wrote a text out of sheer desperation. I am publishing it here exactly as she wrote it because it moved me deeply. Perhaps someone reading this might have an idea that could help her. <hr /> <h2>Petra’s text</h2> <strong>Course of illness:</strong> Dear team, I am describing my medical history here in the hope that you might be able to help me. It all started last year in July. Before that, I had occasionally experienced an elevated pulse without a clear cause (resting pulse while sitting sometimes up to 115). A cardiac ultrasound and multiple ECGs were done and everything was fine. I attributed it to stress. It came and went and is still present today. I also sometimes had dizziness, which I currently no longer have. At the beginning of July, I had a small injury on my left ankle (I probably scraped it on a wooden board that was slightly infected, but it healed well). Shortly afterward, my left ankle became slightly swollen, but without pain. Then the swelling seemed to move upward, and I developed swelling behind my left knee. I was checked for thrombosis in the leg, but everything was fine. A week later, my entire left leg up into the groin became extremely painful—so painful that I went to the emergency department. They also could not determine the cause (all blood values normal, no thrombosis). This lasted about three weeks. Standing and sitting were especially bad. Then it subsided again, but my lymph nodes in the groin were somewhat swollen and I developed mouth ulcers (aphthae). I felt exhausted all the time. I was tested twice for Lyme disease (although I had no tick bite). Both tests were negative. Then the pain moved further upward into the left pelvis and flank. I often felt nauseous, sometimes with vomiting, and this was followed by diarrhea that lasted for months and continues to this day. I lost 6 kg and have been underweight since then (before about 59 kg at 175 cm, afterwards about 53 kg). Despite eating, I cannot gain weight. The diarrhea lasted more than four weeks. I had a gastroscopy, colonoscopy, and capsule endoscopy. Everything was more or less unremarkable. I had the feeling of a foreign body or pressure on the left side where the ureter roughly runs, and the same sensation in my back on the left side. I was treated with Novalgin (no effect) and after five days of severe pain, ongoing nausea, weakness, and diarrhea, I was discharged. I have spent about €3,500 on private treatments (various alternative practitioners, vitamin infusions, blood tests, stool analyses, physiotherapy, IUD removal, osteopathy, etc.). No one has really been able to help me. I wondered whether it might be an autoimmune disease, as I have had Graves’ disease for about 11 years since my pregnancy (my thyroid has since been removed). However, I am currently not well adjusted. My last TSH was 13. Many blood tests were done without any meaningful findings. I was diagnosed with “leaky gut,” meaning an absorption disorder. I was advised to strictly avoid gluten for three weeks, but there was no improvement. I still eat largely gluten-reduced, but my pain is independent of food and present 24 hours a day. In between, I was treated psychosomatically in a clinic for two weeks. I continued to lose weight despite eating, with no improvement. I also took antidepressants for four weeks and then stopped them in consultation because they did not help. Since then, I have tried almost every pain medication: paracetamol, opioids, tilidine, Novalgin, ibuprofen, and others. I have severe pain on the left side, mainly in the flank, both front and back, only on the left side, roughly where the tail of the pancreas is located, and in the back in the area of the left kidney and pelvis. The pain is gradually getting worse, and I feel like I can’t go on much longer. My family is suffering tremendously, and I don’t want to live like this. There must be a cause. Since yesterday, I have been taking medical cannabis and hope that it will help. Maybe someone has an idea, a thought that could help.</blockquote><br> Cancel Share this: Share on Facebook (Opens in new window) Facebook Share on X (Opens in new window) X Like this:Like Loading...