Tag Archives: diagnosis

Diagnosis story – Coeliac Disease

Coeliac disease is an auto-immune condition where the immune system reacts to gluten in the foods we eat, causing inflammation in the digestive tract. There is no known cure, and the main treatment is a strict gluten free diet.

I was diagnosed with Coeliac disease after a couple of years of vague symptoms, this is my diagnosis story.

When I was around 12 years old, I began suffering from pain in my shoulders. I regularly suffered with pain in various joints, especially my wrists, and we usually thought I had just injured myself. The shoulder pain was different though, and wouldn’t ease up.

We went to my GP, who did an examination and gave me some pain killers and anti-inflammatory medications, telling us to go back if symptoms didn’t improve.

While the pain killers helped, my symptoms didn’t go away, so we returned and some blood tests were ordered. They found out I was anaemic, and I was given iron tablets. I was also sent for xrays which showed some form of abnormality, but we weren’t told what the abnormality was.

I was eventually sent for physio, and for a while my symptoms did improve a little, but unfortunately this didn’t last. We went back to the doctors and I was anaemic again. This time a locum doctor decided to try and figure out why I was so anaemic, especially after multiple courses of iron supplements.

She ran a blood test for TTG, which is the antibody made by the body when you have coeliac disease. This is what attacks the enzyme in the intestines, causing damage. My levels came back so high that the lab thought it was an error, and we had to repeat the test. When it came back just as high again, I was referred to a paediatric gastroenterologist.

When I met the GI, he was very surprised that I was relatively healthy, he said that my levels of TTG were so high, he expected me to be extremely sick. My only symptoms were the shoulder pain, anaemia and low energy, which we had put down to the anaemia. It turns out my TTG levels were so high the lab actually stopped counting at 250. I was sent for an upper endoscopy with biopsies to confirm the diagnosis.

Strangely, the endoscopy and the biopsies came back normal, which no one was expecting. The GI speculated that possibly they had just biopsied the wrong spot, or, more unlikely, there had been some sort of lab error.

At the time I was tested it was usual to go off the biopsy results, but my blood levels were so extraordinarily high that they decided to go ahead and treat me for coeliac anyway and I started a complete gluten free diet.

I have now been on a gluten free diet longer than I was on a gluten containing one. We now know for absolute certain I have coeliac, as my TTG levels went down drastically once I stopped eating gluten, and I now get severe symptoms if I accidentally consume even a minute level of gluten. It also turned out that I did have more symptoms than we thought, I was just so used to feeling crummy I thought it was normal. Once I switched to the GF diet I had much more energy, a better appetite, I didn’t feel constantly sick in the morning and I was generally just much happier.

If I accidentally get glutened now, I get severe stomach pain, flushing of the face, swelling of the lips, extreme nausea and vomitting, headaches and general muscle and body aches. While at the time of diagnosis my symptoms weren’t that noticeable, I can only imagine how bad they would have got if I wasn’t diagnosed when I was.

If you think you might have coeliac disease or of the symptoms, please speak to your doctor.

Diagnosis story – Crohn’s disease

Crohns disease is a type of Inflammatory Bowel Disease (IBD) which a can affect anywhere in the digestive system. Common symptoms include stomach pain, nausea, vomiting, weight loss, bleeding from the bowel, loose stools and extreme fatigue. These symptoms are also common in many other diseases and this means that people with IBD often face months or even years of symptoms, testing and misdiagnoses before finally being diagnosed with IBD. I hope that by sharing my diagnosis story I can help raise awareness and hope during the diagnosis journey.

Part one – First symptoms and initial investigations.

The first indication that something wasn’t quite right came in the form of mild to moderate abdominal pain. At the time I was already under a paediatric gastroenterologist for coeliac disease so we told them about my symptoms and we did some basic testing. We started with some blood tests and moved on to x-rays, an ultra-sound and a barium follow through where I swallowed a barium drink and multiple X-rays were taken as the barium went through my digestive tract. We were told there was nothing significant on the tests but that we should closely monitor my weight and pain levels to make sure I didn’t deteriorate. We later found out that there were slight changes on the barium follow that could have indicated crohn’s but because of the newly diagnosed coeliac no one really thought much of it. We were told that the symptoms were possibly from my body recovering from the damage related to the coeliac disease and the big change in my diet.

Part two – watching, waiting, anticipating

After the initial tests were inconclusive, we decided that a watch and wait as my consultant didn’t want to put me through any more invasive testing as he felt I had already been through enough. Over the years the pain never really went away, and I began to slowly loose weight. My paeds consultant was concerned about the weight loss as I was already underweight for my height and it was beginning to become dangerous. Unfortunately at this point I aged out of paediatric care and had to be moved to the adult department and a new consultant. My paeds consultant had written to the adult gastro stating his concerns and advising close monitoring but unfortunately this was ignored. It took several strongly worded letters for me to finally be seen in clinic, and my concerns were totally dismissed because my blood tests were “ok”. I was told that my symptoms were possibly “functional” or that maybe my coeliac wasn’t being properly controlled and dismissed.

Part three – Begging for tests and worsening symptoms

Around 4-5 months after my 19th birthday my pain began to get significantly worse and was having major impacts on my day to day life. I was also continuing to loose weight despite eating as much as I could. At this point I knew something needed to change so I insisted on an appointment with my consultant and essentially begged him to do more testing. I eventually managed to convince him to organise an MRI scan. The scan took place in early August and I was told I would get the results within four weeks. Four weeks came and went but there was no sign of the results so I assumed there wasn’t anything important on the scan and tried to carry on with life.

Part four – Hospital trips and final diagnosis

After receiving no update about the MRI scan for 6 weeks I went off to Uni thinking it must have been OK. We don’t know if it was the stress of moving to a new city, starting a nursing course and being away from my family for the first real time or if it was just a coincidence but this is when things really went downhill. I lost a large amount of weight in a very short amount of time, my stomach pain became unbearable and I was struggling to eat or even drink enough. I was suffering severe nausea and vomiting and couldn’t even keep water in. At this point I decided I needed real medical help and went to the A&E at the nearby hospital where I was kept over night. This was the first of three admissions where they gave me pain relief and re-hydrated me. During the third admission they were discussing exploratory surgery to try and find out what was happening, but the consultant who came in the next day decided that this wasn’t necessary. Instead they diagnosed me with a ruptured ovarian cyst and instructed me to take a week off uni and go home with my parents to rest and be looked after.

While this was unfolding, I decided to try and contact my gastro consultant back in Wales to see if he could tell me if anything came up on the MRI scan. When I eventually got hold of him and told him what was happening, he told me that the MRI had shown narrowing in the bowel indicative of Crohn’s disease. He told me I would need further testing to make a definitive diagnosis. In November 2012 I had a colonoscopy with biopsies which found a narrowing called a stricture as well as active inflammation in the form of ulceration and redness. This confirmed the diagnosis of inflammatory bowel disease and because of the location (end of the small bowel) it was decided that I did indeed have Crohn’s disease.